Progress Report on the Princess

Progress Report on the Princess

It's been a few months since I've updated the blog. If you're on Facebook, I give frequent updates about Elizabeth on her page, which is called Team Elizabeth Jeanne. Be sure to follow us on Facebook, and to share the page, and this blog, with your friends. We always welcome new members to our team. 

Elizabeth has been relatively health over the past few months EXCEPT for a nasty set of recurrent ear infections. In fact, just yesterday I took her to the pediatrician.  She has had a cold since Saturday, and it landed us in the ER with her at Children's on Sunday. She was having a lot of difficulty breathing, and her pulse oxygen kept dipping into the 80's and low 90's. I have oxygen here at home. I also have a cough assist machine, nebulizers, and inhalers, but she was scaring me, so we went to the ER. Fortunately, her lungs were clear. She just picked up another upper respiratory virus. Yesterday, she started with this tight cough, and I felt the doctor should listen to her lungs, etc. Well, her lungs sound clear, but her right ear in infected. This marks the fourth ear infection that she has had since mid-April.  The oral antibiotics are proving ineffective, and they are wrecking her already poorly functioning GI tract. So, the doctor and I agreed yesterday that our next step were a dose of antibiotic via a shot.  Elizabeth received a shot in each leg yesterday of an antibiotic, and she goes back in on Friday (tomorrow) for a follow-up and a second dose of the shots. Hopefully this will do the trick. I certainly was being given the princess stink eye while I was helping to hold her down for the shots, and for a while after while they watched her for a reaction. Thankfully, she was very cuddly last night and today, so I can say that she has forgiven me.

As for the ear infections, Elizabeth has struggled with ear infections all of her life, from the time she was an infant. Part of this could be just her immune system, and the fact that her brother also had frequent ear infections. They both had surgery to have ear tubes placed right around their first birthdays. However, Elizabeth's major contributing factors to the frequent ear infections lie in the anatomical issues caused by her sub-mucous cleft palate, and also due to her aspiration, weak and unproductive cough due to pulmonary issues, and the fact that she frequently gets upper respiratory infections that she cannot fight easily like you or I could do. She has been on three different oral regimens of antibiotics since mid-April, which caused rampant diarrhea, which caused terrible diaper rashes.  She has been battling fevers with these ear infections, and she truly has just felt miserable with them.  She has already had ear tubes placed in her ears on two separate occasions, but with the havoc the antibiotics wreak on her digestive system, we have to consider other options. When her ear tubes are in place, and are functioning properly, then she has little to no ear infections.  The current set of tubes have been in quite some time. Actually, they have been in her ears longer than they are typically expected to last, so a switch for new tubes is long overdue. So, her ENT (Dr. Jabbour) is going to surgically place a new set of ear tubes on June 24th. We are hoping this puts an end to the ear infections for some time. 

Elizabeth has been taking Reglan since December in an attempt to kickstart her gut into tolerating feeds again. The medicine is continuing to work. We know it can cause nasty side effects. It works in the brain as opposed to working in the gut. We are constantly watching her for the neurological side effects caused by the drug. She has been on the medication way longer than you're supposed to be on the drug. However, it has been working for her. I have my own pharmacological theory why it is working, and the doctor's believe my theory is plausible. I won't bore you with the details. Anyway, we have agreed to keep her on it, at least for a while longer. She currently is tolerating bolus G-Tube feeds. That means that she get 3 feeds per day delivered via a pump to her g-tube. These feeds are a special type of formula, and each feed lasts about 2.5 hours. Then, she gets a break between feeds. I have always felt that the formula that she is on is very harsh, and that she does not tolerate it super well. So, I spoke with the Intestinal Care (i-Care) team at CHP about this. I asked if I could move her to a blenderized diet now that she is tolerating bolus feeds. They agreed, and we have an upcoming appointment with Nutrition to enroll her in a clinical trial for a new type of pre-made blenderized formula. I can also prepare blenderized meals for her that will be administered via her g tube to help feed her.  It is a much more natural way to feed and get food into her system than formula in a can. We are hoping the transition from blenderized to formula goes smoothly. She has been doing so much better from an intestinal standpoint, that we are only going to be seeing I-care every two months instead of monthly. Things have been looking up from a GI perspective, except the rampant diarrhea caused by the ear infections and oral antibiotics. 

We have had over 35 appointments in the past two months. It's really quite crazy. All of the driving back and forth, the traffic, the diarrhea explosions in the car, the pump beeping when I'm rolling down the highway, all make the trips entertaining to say the least. Last week, we had appointments every day at Children's in Pittsburgh. Some weeks are like that. Some weeks we are lucky, and we have no appointments. Some weeks we think we won't have any appointments, and then something comes up and we have to get in to see this doctor or that doctor. It is very unpredictable, and VERY costly with gas. I drive a minivan. Those things are not fuel efficient. We are fortunate to have an excellent team of doctors and departments caring for our Elizabeth.

We have had follow ups in pulmonology, hematology, urology, ENT (which I already discussed), and added a new department Pediatric Gynecology. Yes, that's a thing. Dr. Chan, the Pediatric Gynecologist, is amazing and was lucky doctor #13 to be added to Elizabeth's team.

As for pulmonology, things are remaining the same. They advised not pulling her off of her inhalers at this time. She's only a few months out from being cleared to eat by mouth again. She has days when she eats better than others, and she still struggles with many issues with eating. So, it is still entirely possible that on those days when she is struggling with eating that she is aspirating. The inhalers help to keep her airway flowing nicely. She has had fewer respiratory infections than in past periods, which is great. At some point, they want to do a bronchoscopy to get a baseline on the health of her lungs. They advised to to do cough assist whenever she is sick, and even after she eats when she is healthy to help her to ensure that she clears her airway. The honest and truth is that she has a neuro-muscular disease that is progressive and it progressively impacts lung function. So, we may be able to some day pull her inhalers for a while, or not have to have oxygen and cough assist on stand by, and we also may never get to that point. We also may need to up our game on respiratory assistance for her at some point. There's no way to predict, so we just watch her, closely. We monitor her pulse oxygen several times a day. We keep track of trends in her pulse oxygen. We check blood work frequently that tells us how healthy her lungs are and how well they are working. Right now, that is all we can do, so we do it. 

Hematology feels that her iron deficiency anemia is going to be resolved now that she is tolerating g-tube feeds. Now her body has extra pathways to absorb iron as food enters her body than it did before when she was being fed directly into her intestine. However, she has some other issues with red blood cell size, wavering hemoglobin counts, and has needed blood transfusions in the past. They still suspect she could have a bleed that they have not found. They also suspect that her genetic disorders could be at play with her blood issues. At this time, we are not going to do anything but watch her biweekly lab work, and we will follow with hematology every 4-5 months. 

Urology is also keeping status quo with their care of Elizabeth. It has been suspected since January that she has a rectovaginal fistula. Now, a popular theory is that this fistula is the culprit behind her frequent UTIs, and played more of a role in her frequent UTIs than her mild level of bladder reflux. Despite having several imaging and scoping studies done, we have not seen the fistula or found it's exact location. However, since starting the Bactrim that Urology put Elizabeth on for the frequent UTIs, she has not had a UTI. It is also interesting to note that the Bactrim would kill the same bacteria that would cause UTIs because of the fistula. So, we are keeping her on the Bactrim until we find the fistula, or we feel she is reasonably healthy enough that the UTIs won't throw her over the edge in regards to health. 

We recently added Dr. Chan from Pediatric Gynecology to our team to help us find the fistula. She is amazing, and I am so glad that she was able to see Elizabeth.  She suggested a few tests that we have not done yet. One of the tests she is going to perform while Elizabeth is under for her ear tube surgery on the 24th. We are still waiting to hear when the second test she suggested can be scheduled. These recto-vaginal fistulas can be very hard to find, but we are hopeful that one day we will figure out why this problem is ongoing. 

In other news, Elizabeth started school at the Western PA school for Blind Children on her birthday, May 10th. She finished up on June 3rd, and she will attend for two weeks in July as part of an extended school year program. Then, she will start school again full time at the end of August. She really loves it, and the staff and her teacher are amazing.  Elizabeth has done amazing things in the few weeks she was there. For example, she stood several times on her own. It is an hour and fifteen minute bus ride from home each way, but she has really done well so far. It broke my heart quite a bit to put her on the bus, but that's the way it goes. I'm letting her spread her wings, show us all what she can do, and we have been more than impressed so far. 

Also, Elizabeth was granted a wish through Make a Wish. They are sending our little family to Disney in July, and we are all so excited. I know that she will love it. She and her brother are both HUGE Disney Fans. We even had a few special Disney character guests show up at their birthday party. Elizabeth was totally captivated by Elsa, and Celtan was super excited that Darth Vadar and Batman showed up. It was a wonderful day. I cannot thank my friend, Beth Taylor Ackelson, enough for putting that together, and the students who took time out of their day to dress up to make their birthday party so special also receive our deepest thanks. 

Thank you for all of the love, prayers and support. It truly means so very much to us. Thank you for being a part of Team Elizabeth Jeanne.

March Madness Elizabeth Jeanne Style

March Madness Elizabeth Jeanne Style

I haven't posted since the end of February, and that's because March seemed to end as quickly as it began for us.  It was a mad, swirling, whirlwind of activity for Elizabeth and for all of us. It was truly our very own version of March Madness. Speaking of that, I didn't catch a single game this year of the March Madness Tournament.  I didn't have time.  It's a shame, because I find it entertaining, and I usually draft a killer bracket. Anyway, it's for the best because we had more important things to tackle here. 

Inpatient Stay for Round Two of Sepsis/ Line Infection:

The first week of March, Elizabeth was admitted to Children's from the ER.  She has a central line in her upper right chest, and she receives her TPN/ fluids for nutrition via her central line.  There is a lot of care that is involved in taking proper care and using proper sterilization techniques when accessing, connecting a feed or medicine, disconnecting said items, etc. with her central line.  When we left the hospital in November with a central line, I was trained at that time on how to do all of the care, procedures, etc. involved for all things central line.  Yes, she qualifies for nursing, but most agencies only allow R.N.'s to access or perform any kind of central line care.  It is hard to find RN's to staff as many hours as Elizabeth needs to fulfill all of her line care duties.  Plus, what if someone calls off, and there there is her whole immune deficiency issue. With her immune deficiency, the less people accessing or doing line care on her the better, that way it is easier to maintain consistency with procedure. So, I decided at the start that I would be the one to do her line care, draw her blood work for labs each week, and change her central line dressing each week.  I learned how to do it all, and it has just become part of our routine.  I never imagined I would have to draw blood from my child, or have to learn how to put on sterile gloves like a pro, but I had to, and I did, and it is all working out pretty well. 

Aside from all of the line care and sterile precautions, one thing that you have to keep an eye on is any type of fever in Elizabeth, even a low grade fever. Any kind of fever, even if other symptoms are present that could explain a fever (i.e. cough, cold, congestion, etc.), is a serious issue when you have a central line, and it is something that you cannot ignore.  A central line is basically an open port into your body via a vein/ artery.  For example, Elizabeth's central line is tunneled into her upper right carotid artery.  It is very easy for bacteria to enter the blood stream when you have a central line for a number of reasons.  Most of the reasons why bacteria can enter the blood stream via a central line can be prevented by using proper sterile techniques, but sometimes bacteria can still get in no matter how careful, or sterile, you are when accessing the line.  Elizabeth can touch her central line. Celtan can touch it. A toy could touch it. Someone else could accidentally touch her line. Germs are everywhere. The possibilities are really endless.  A fever is one of the first warning signs that there is a possible line infection.  At the first sign of a fever, it is important to get her to the ER.  The earlier you catch a line infection, the better.  The longer the line infection sits, the greater the chances that the line infection can turn into full blown sepsis (a blood infection), because the line is a direct access to her blood supply.  

Every day, I take Elizabeth's temperature at least twice a day.  I also take her temperature any time she feels remotely warm to me.  I have thermometers everywhere: in the car, diaper bag, my purse, in several rooms in the house.  If I get a temperature of 100.5 degrees or greater, then that is an immediate trip to the ER to rule out a line infection.  Elizabeth's immune system issues make her more prone to line infections.  She has run a fever, and it was not related to a line infection, however, it isn't worth taking the risk. If the line infection develops into full blown sepsis with her, that is very serious, especially with her immune system.  The first week of March, I noticed for two days that her temperatures were hovering in the 99 degree range.  The first day they were 99.5, 99.7, and I went ahead and treated her with Tylenol.  The Tylenol didn't do anything to keep the fever at bay, and the next day, her temps continued to hover in the 99 degree range.  She seemed a little tired, and a little cranky, but she had no other symptoms. Typically, unless her temp reaches that magic number of 100.5, I do not need to call her doctor.  She sometimes runs fevers due to her many complex immunological and endocrine issues.  However, on the third day, her temp finally breached the 99 degree mark and was 100.4.  I called the doctors, and they consensus was that she needed to come in to the ER to be evaluated for a possible line infection. So, we packed up and went to the ER at Children's.  My dad came in and picked up Celtan, and Elizabeth and I headed to our home away from home.  

My van is always packed and ready to go for hospital trips.  It is like perpetually being ready to deliver a baby. I never know what each day will bring. I never know what will pop up any second with her, and it is always better to be cautious.  So, we always have to be ready to go. Seriously, I can't even put groceries in the back of my van due to all of the hospital gear. 

When you have a central line, and you develop a fever, it is an automatic 48 hour inpatient stay at the hospital.  This is because they won't release you until you have 48 hours of negative line cultures when a line infection is suspected.  By the time we got to the ER, her temp was already 102, and they started doing blood cultures on her.  They take a culture from each of the two lumens/ ports on her central line, and they also take a peripheral culture from another vein in order to determine if the infection has spread into her blood stream.  When the infection reaches your blood stream, it is no longer just a line infection, it is now a blood infection, which is called sepsis, which brings all kinds of nasty things with it. They also immediately start you on two big-gun antibiotics that are broad spectrum and basically cover all kinds of bacteria.  After the cultures tell them which specific bacteria is growing, then they can tailor the antibiotic regimen to suit the specific bacteria that is growing in her line/ blood stream. In case you are wondering, the two antibiotics that they start with are called Vancomycin and Zosyn. After the cultures were drawn and the antibiotics were started, we sat in the ER and waited for our room on our home floor 7B to be ready. At this point, we knew we would be there at least two days, because you have to stay until they get 48 hours of negative cultures.  Sometimes it takes a while for the cultures to show anything, which is the reasoning for the 48 hour rule.

About the time our room was ready, the Zosyn was finishing up, and it was time to start the Vancomycin. So, they started running the Vanc, and they sent us up to our room.  We were greeted in the room as usual by her nurse, and an intake nurse.  As I was going over her information with the nurses, which basically is me repeating the same things I say every time I'm there for the billionth time, I noticed that Elizabeth was pretty irritable, and Jason made a comment that she red.  It was dark in her room, and we turned on some lights, and when we did we knew that what we saw was an issue. She was bright, flaming, red all over her face, head, neck, shoulders, arms and torso. I had seen this before, and so had the nurses, and we knew this would complicate things.  The reaction we were seeing in Elizabeth is known as Red Man's syndrome.  It is a reaction that you can have to Vanc, which is technically an allergic reaction.  Unfortunately, Vanc is a type of antibiotic that is really useful in treating some pretty tough bacteria, and so having Red Man's as a reaction doesn't mean that they will not give you Vanc if a line infection is suspected. It isn't the same kind of allergic reaction as anaphylaxis, which is a serious life threatening allergic reaction.  Red Man's syndrome really is an infusion reaction, and when you have Red Man's syndrome the treatment is to give Benadryl and to slow the infusion rate of the Vanc.  They pretty much immediately gave Elizabeth Benadryl, which quickly helped to calm her itching and get rid of the rash.  This also meant that from this point forward, Elizabeth would have to be given a dose of Benadryl a half an hour prior to her scheduled dose of Vanc, and it also meant that her infusion rate would have to be slowed down and given over two hours instead of being given to her over only one hour.  I can tell you that Red Man's is very unpleasant, because I also have this reaction to Vanc, and so has my sister.  Elizabeth has had many times Vanc before, but this was the first time she had ever had a reaction to it.

Once the Red Man's was addressed, we finished doing intake with the nurses.  Jason went home, and Elizabeth and I settled in for the night.  It was very late, but we went through our usual bedtime ritual in the hospital.  We changed into pjs, put on Frozen, and we snuggled and watched the movie.  Before long, she was asleep.  So, I laid her down, and I laid down on my couch to try and get some sleep.

The thing about the hospital is that you don't get much sleep. In a few hours, I was woken up to the sound of Elizabeth vomiting and choking.  I jumped off of the couch and was holding her up with one hand while pressing the call button with the other hand.  Then, I started trying to help her clear her vomit.  She can't sit herself up when she is sleeping, it goes along with her neuromuscular disease.  So, when she gets sick while she is sleeping it can be very dangerous, because she can't sit herself up she can very easily choke and aspirate on her vomit. The nurse came in, and she helped me clean Elizabeth up.  They put her on continuous monitor at that point, and they also gave her a medicine to help her with nausea.  We were unsure if she was throwing up because of the infection, or as another reaction to the big-gun antibiotics.  In my gut, I knew that she was throwing up because she had a line infection and sepsis.  This echoed the last time she had a line infection/ sepsis at Christmas.  The sudden and quick onset of the vomiting and elevating temperature. Her temp went up to 104.5, and only a combination of IV Motrin and Tylenol were able to bring it down. We gave her a bed bath, and once her fever started to go down, then she fell back asleep.  By the time she fell back asleep, it was time for another blood pressure check, and then it was time for another dose of Benadryl and another dose of Vanc. So, neither of us got much sleep that first night.

We both got a little nap in the next morning.  When the doctor's came in for rounds, they said that both her line and peripheral cultures were positive for gram positive bacteria, so this meant that she had both a line infection and sepsis.  They were going to stop the Zosyn, but continue with the Vanc as it would be the antibiotic of choice to treat the type of bacteria present.  They were also continuing the Tylenol and Motrin to help keep her fever down. I went to lunch with my friend, Liz, and was gone from the room for about an hour. Elizabeth was sleeping, so I figured I was safe to go to the cafeteria.  When I got back to the floor, I knew there was trouble, as a nurse was standing in her door way intently watching her monitor.  She said she was just about to call me when she saw me round the corner.  Elizabeth's heart was racing, her respiration rate was rapid, her fever was spiking, and she started throwing up again.  She was closely being monitored.  Finally, after several medications to help stabilize her, her vitals returned to near normal.  She slept soundly as my gray hairs continued to sprout on my head.

The weekend went pretty smoothly.  They continued to do blood cultures, and by Saturday we had negative peripheral cultures.  This meant that the antibiotics were clearing the infection from her blood stream. We were admitted on a Wednesday.  On Sunday, we had negative line cultures, so the antibiotic was also clearing the infection in her line.  The Infectious Disease doctors felt it would be beneficial to use Ethanol Locks in Elizabeth's central line as a preventative measure for line and blood infections, so the nurses trained me on how to instill and remove Ethanol locks from her line.  We will continue the Ethanol locks indefinitely.

On Monday of the admission, they sent Elizabeth for a Barium Enema to further investigate the presence of a fistula that is connecting between her rectum and vagina/ uterus.  She was not at all happy during this test.  The test did not show where the fistula was located, which was frustrating to say the least.  However, she continues to have stool come from her vaginal area, so there's clearly a pathway, they just can't find it. At this point, she had also picked up a nasty respiratory virus.  Her nose was running and she had developed a cough requiring Albuterol.  She was scheduled to have her Botox injections in her salivary glands on Tuesday, but the Anesthesiologist would not clear her for the procedure due to her recent sepsis and the current respiratory infection.

They discharged us on Tuesday, but due to issues with delivering the Vanc to our home in time for her 4 pm dose, we had to stay in the hospital until her 4 pm dose was completed.  So, we were finally discharged around 7 pm. It was good to be home after being in the hospital for nearly a week. We were discharged and sent home on Vanc every 8 hours for the next 10 days, Ethanol locks in her lumens every day, and also changes to her feeding schedule. She had gained too much weight too quickly, and so they wanted to back off on her fluid intake.  When we went in to the hospital, she was on TPN 22 hours a day, and she was on G-Tube feeds for 20 hours a day. When we were discharged, she was now on G-Tube feeds for 18 hours a day, and TPN for 12 hours a day.  Between having to give the Benadryl a half an hour before each dose of Vanc, the Vanc running for two hours each time it was given and being time sensitive so it has to run at midnight, 8 am and 4 pm, establishing a schedule for Ethanol locks, and connecting/ disconnecting feeds, it was quite tedious. But, we managed and are still managing, without nursing.

MRI Results:

At the end of February, Elizabeth was scheduled to have a series of MRIs to look at her brain and her abdomen.  There was a scheduling issue, and they did not have time to complete all of the MRI's ordered, so they did the brain and a pelvic MRI.  We had the results the next day.  

The brain MRI showed that she still has several forms of congenital brain damage/ anomalies, which are unchanged since the MRI last fall. It is good that there have not been any changes in the damage already present, however the damage/ anomalies there are responsible for many of her health, developmental and growth issues. There is no way to fix or correct them.  They will always be there. They will never go away or get better.  We just have to hope that they don't get worse. Just to review, her brain MRI shows partial agenesis of the corpus callosum, white matter loss, undulating ventricles, small and cupped optic nerves, periventricular leukomalacia, asymmetrical ventricles, and thinning of the corpus callosum just to name a few.  She continues to be followed by Dr. Hoda Abel-Hamid in Neurology at CHP for these findings, as well as for her Congenital Myasthenic Syndrome. 

The pelvic MRI did not locate a recto-vaginal or recto-uterine fistula, however the radiologist noted that the MRI even with contrast is not sensitive enough to pick up a very tiny fistula.  So, they decided then to do the Barium Enema for another look, which they completed when she was inpatient for the sepsis. They are currently consulting a Pediatric Gynecologist to determine if there are any additional tests that may show the fistula.

The abdominal MRI and Enterography was not completed due to a scheduling issue.  We were in radiology for so long that day, because she had to be put under general anesthesia for the MRIs, that we missed our scheduled genetics appointment. So, we had to reschedule it.  The appointment with Genetics is actually today (March 29th), and we will discuss the recent Whole Exome Sequencing findings regarding her having a mutation of the SON-gene. 

The Freaking Flu

The night we were discharged from her inpatient stay with the sepsis, the flu struck our household.  At 4 am, I heard the horrendous sound of Celtan vomiting.  He threw up EVERYWHERE.  I did laundry for three days.  I scrubbed my whole house that next day from top to bottom with bleach.  You could smell the bleach from outside of my house, and I had to walk down my stairs sideways for three days, because my legs hurt so bad from stepping up and down off of the step ladder that day while disinfecting my house. I was just done with germs and wanted them gone.  Thankfully, neither Jason nor I got this flu, and it didn't seem to last long. Celtan was actually the only person who had it, and it was gone within 48 hours.  However, for those 48 hours it was violently coming out of both ends.  Elizabeth also had nasty diarrhea from the Vanc, and she also had thrown up, but it was because of the respiratory virus she picked up in the hospital, and she was coughing so hard it was making her throw up. Her diarrhea continued for another two weeks. For the next ten days, I was not only in the throws of an intense antibiotic regimen for Elizabeth, but every single day for ten days I had to strip one of my kids beds at least once a day due to a poop or puke incident.  To say I was "over it" was an understatement.  I don't for the life of me understand why it is so hard to get to a bathroom when you can walk and have to throw up, however, Celtan just can't seem to get there. Oh well, the flu is gone from here.  I think it got them message from the bleach attack.

Other Appointments:

Elizabeth did have her botox injections in her salivary glands last week.  While she was under anesthesia for the procedure, they also checked out her central line, as we were not getting any blood return from it.  They were not able to repair her line, it had clotted and crystallized, so they had to replace her central line.  She did well with both procedures.  She never even needed medicine for pain once we were discharged, which was awesome.  Elizabeth is super, super tough.  I will take out her stitches around her new line sometime next week.  

Elizabeth has also been going to "driving lessons" every Tuesday at the Children's Institute in Pittsburgh.  In February, we ordered her a Power Wheel Chair, and the insurance approved several weeks of lessons.  The thought process is that by attending the driving lessons, it will help her to be ready to maneuver around in her chair when it arrives.  She is doing fairly well with the lessons.  She knows how to use the joystick to move the chair, but it is very much when she wants to, and if she wants to, and what her attention is focused on.  I'm hopeful that she will improve as we continue lessons.  The power wheel chair will be a huge step in allowing her to be able to interact more in her environment. 

We also had her IU evaluation this month for her IEP for preschool.  An entire IU team came to our house to do her evaluation. It was very productive.  Elizabeth is waiting for the evaluation to be completed so that her IEP meeting can be scheduled, and she can begin preschool at the Western PA School for Blind Children in May when she turns three. She will not only attend preschool there, but she will also receive all of her therapy there as well. Right now, we have 10 hours of therapy each week in our home for her that is given by a team of six therapists. Some of these therapists have been with us for over two years when we started Early Intervention for Elizabeth.  It is sad to think that very soon, their work with Elizabeth will be done, because you can only receive EI services until the child is three. I will never be able to thank them enough for everything that they have done for Elizabeth and for our family. 

We also had an I-Care appointment in March that was super hopeful and productive.  The medicine that Elizabeth is on to help get her gut working again is working, and despite the potential for nasty side effects we aren't seeing any of those (so far) in Elizabeth.  Since she is on a super low dose, we are going to continue to give her the medicine, even though she has been on it for much longer that is typical for protocol.  When you have a child like Elizabeth, you are often faced with decisions where there is no win-win option.  Everything is truly a cost-benefit analysis.  Do the benefits of the medicine, procedure, etc. outweigh the costs? In this situation, the benefits that this drug has brought for Elizabeth have been overwhelming.  This medicine has stimulated her brain-gut connection, and her stomach and intestines are now tolerating feeds.  She also has passed a swallow study, is eating by mouth (small amounts) again, and is showing an interest in eating and progress as we train her to eat by mouth again. These are all great things.  This medicine gave us an enormous amount of hope when we had very little because she was in intestinal failure, was not gaining weight on the TPN, and was not tolerating the TPN very well. We know that she will not be able to be on this medicine forever.  We know that eventually the odds are not in her favor and eventually she will develop one of the nasty side effects, and we know that once she develops these side effects they are permanent and irreversible despite stopping the medication.  We know that when the time comes to take her off of the medicine that this brain-gut connection will likely not remain stable, and we will be back to where we started with little options at that point. Right now, we are grateful that it is working, and we will just enjoy the ride, enjoy the progress. 

Speaking of progress, she has gained weight so nicely, and has been maintaining her weight with the reduction of TPN from the inpatient stay for the sepsis, and her lab results have all been good, and the retraining her to eat and drink by mouth is coming along slowly but surely, and she has an pretty serious interest in wanting to eat by mouth, and because of all of these things she is no longer on TPN.  Instead, at our I-Care Clinic appointment, Dr. Al-Issa, who I adore, switched her off of TPN and now for eight hours a night she receives normal saline IV fluids with 5 % Dextrose (D5) via her central line, she also is connected to G-Tube feeds for 18 hours a day, and she we are continuing to advance her diet by mouth as tolerated.  They also took out her G/J Tube in clinic and put a G tube in it's place. We jokingly stated that now she is a "Straight Up G" again, with the change in the G-Tube.  My need to find humor in all things is overwhelming, and the straight up G thing is funny.  In fact, a friend, Megan Guntrum, made a hilarious pic about it.  Elizabeth has been able to maintain her weight these past few weeks on just the normal saline with D5 in lieu of the TPN, and I am waiting to hear from her doctor, but this could me big things for Elizabeth.  Like, that maybe she won't need any kind of IV fluids to help her maintain her weight and stay healthy and hydrated, and this means that we may be able to pull her central line.  There are always a lot of unknowns, but there is always a lot of hope.  This medicine has given us hope.

Let me be clear, that just because she is tolerating feeds now does not mean that she will forever and always tolerate feeds by mouth or into her gut.  This in no way means that she does not have intestinal failure or continued gut motility issues. This in no way means that she will never be on TPN again, nor does it mean that she will never need a central line or a port again once the decision is made to pull her current one, nor does it mean that we are out of the woods in terms of intestinal functioning.  This also does not mean that she is anywhere near the point of not needing a feeding tube, and truthfully it is highly unlikely that she will ever have her feeding tube removed.  This is just current progress, the current state of affairs, and it can change at any moment, without warning, so we are left with no choice but to continue to hope that this progress continues as long as it possibly can continue. We see I-Care every month, so we will be seeing them again in April. 

Good and Fun Things

We were treated to tickets to Frozen on Ice from the Izzie's Gifts of Hope Foundation.  We had a great time, and Elizabeth of course loved the show.  So did Celtan. We all enjoyed it.  We are huge Disney fans!  We have received tickets for several events through Izzie's Gifts of Hope.  It is an amazing organization, and if you're ever looking for an organization to donate to, I can tell you that they do amazing things for special needs families, and it would be a worthwhile donation. We cannot thank Izzie's Gifts of Hope enough for all of their generosity. 

Also, we were recently notified that Elizabeth was nominated and will be granted a wish from Make-A-Wish. We are very excited about this. Right now, they are assembling a team of volunteers that will handle all of the details of Elizabeth's wish.  Once the team is assembled, they will send the team of volunteers to meet Elizabeth, and so that she can make her wish.  Stay tuned for more details. 

 

Some Things I Need to Say

First, let me say again that we are super grateful for all of the kindness and generosity that people in our families and community continue to extend to us on this journey.  You have no idea how much the kind words, messages, cards, gifts for the kids, gifts for the family, little anonymous surprises, the continued financial support from a few of the local churches and some local individuals, all of it means to us. I've been writing thank you notes for over a year now.  I know I'm missing someone, missing groups, missing individuals, missing families that have been generous to us. It's not intentional. The generosity has been so overwhelming, and it has been very difficult to keep track of among everything else.  We do what we can to pay all of this forward.  Please know that you have lifted us up when we are weary, have helped us to go on when we think we can't, and have helped us to continue to hope when we felt there was none.  Your prayers have truly helped Elizabeth out of many scary things, and they continue to help her.  We truly, truly, truly appreciate it. 

While so many have been so supportive to us, I still maintain that you cannot truly understand the joy and the sorrow this type of journey brings unless you live it every day.  No matter how hard I try, no matter how "good" I am at telling you her story, no matter how many questions I answer, there is just no way to adequately describe this life.  We wouldn't trade it for the world.  We don't know how we do it, but we also don't know any other way.  We are just doing what needs to be done to care for our daughter, and our son who has also suffered in many ways because of this. 

In many ways, I don't want you to understand.  While I wouldn't trade Elizabeth and all of her problems for the world, I also wouldn't wish this kind of life, this kind of heartache, this kind of journey on even my worst enemy.  It is hard. It ages you. It ruins relationships with family and friends. It destroys marriages. I destroys you financially. It shatters dreams. It breaks your heart in more ways than you can count. It brings you sadness and feelings of hopelessness and helplessness beyond your wildest dreams. 

There are many joys that it brings to you, as well.  Joys that I cannot describe you in words.  The littlest bits of progress are exciting in a mind-blowing way. The things you take for granted in your typically developing children mean so much more with a child like Elizabeth.  The way this journey changes your perspective on life is nothing short of amazing.  It has changed me, it has changed us, in many ways for better.  I see the world differently. I see life differently.  I see friends and family differently.  It makes you appreciate things big and small even more. It makes you love a little deeper, smile a little brighter, find humor where there shouldn't be any, play a little harder, and just live every moment for what it is worth.  We are blessed because of this. The blessings outweigh the burdens.

In saying that, Elizabeth has been making progress lately. She looks better than she has in a long time. These are all things that we are over the moon about.  However, this is just a phase we are in. We know that even though we want desperately for all of her health issues to be a thing of the past, we wish that it didn't have to be her, that will never be the case for Elizabeth. I every day ask for God to take this from her and give it to me. Let me be the one to suffer, not her. It just isn't fair. It isn't right. It isn't that we have lost faith. It isn't at all that we have lost hope. It is just simply the reality of the situation. 

Elizabeth doesn't have a disease that you can medicate or cure.  The root of all of her health and developmental issues lie in things that cannot be corrected, or changed, or made to work no matter how hard you hope, no matter what kind of medicines or procedures you trial, no matter how good your doctors are, no matter how strong your faith is, nothing can fix what has caused all of these issues. Nothing. That's the hard truth of it. We know that. We accept it.  We delight in the good periods of health and progress, and we face the periods of unknowns and uncertainty and sickness and decline as bravely as we can. We continue to give her the best care, get her to the best doctors, we continue to hope when we are told there is not hope, we continue to enjoy this blessing that we have been given.  There is no other way.

Even though she is making progress now, she looks good, and all of those things, she still has many health issues, many developmental issues, and we are no where near out of the woods with Elizabeth. Things change and can change quickly.  She has not been cured. This is not the end of the journey. There is no clear end in sight, except for an end that we can't fathom right now. I am to blame for this false perception that many people seem to have about her well being. I'm just as guilty as everyone else about posting "ideal" pictures of her where she looks great, or writing posts that lean on the positive side instead of writing the bitter truth all of the time.  These things can easily bring false hope, incorrect impressions of her well being, and I apologize for that.  I also am not saying that I have lost hope, or that I don't believe in miracles.  I do. I live with a miracle every day. I will always hope. I will always pray. I will always believe that some doctor, some day will find some say to stop the mutations that plague my sweet girl in their tracks.  However, you can't survive a journey like this without being realistic. 

The reality is that Elizabeth has a series of genetic mutations that are responsible for her many complex medical and developmental issues.  Her genes are mutated. Her DNA isn't coded correctly.  This has caused major issues with Elizabeth's major body systems, down to the cellular level, and there is no way to fix that, or unmutate the mutation, or whatever.  As much as we want and hope for it to be that simple, for it to be curable or fixable, it just simply is not. That is the reality.  There are medicines that can help ease and manage some of the issues. There are doctors that know some of what to anticipate and what to expect and how to treat things as they come up with Elizabeth.  But, more often than not, they don't know exactly what is going on, or how to explain what is happening, and this is mostly because the genetic mutations that she has are extremely rare. She doesn't have a common disease, or even an uncommon disease that can be treated and cured and healed by medicine or a procedure. 

This is our reality. No matter how good she looks. No matter how much progress she is making.  This is our reality. There is no way to cure this. There is no way to fix it. There is no way to end it.  There is no way to stop the progression, although we can slow it in some ways temporarily.  I don't talk about this often, because I don't want the focus on Elizabeth to be sadness or pity.  I want her to be seen as the beautiful, sweet, miracle that she is every single day.  We live this reality every day. The balance between knowing the reality and cherishing the blessing is delicate, but it is possible. The good days and the bad, they're all worth it. She makes it worth it.  Elizabeth has more strength in her tiny body that almost all of the grown adults I know.  She is the most amazing human I know.  She is our blessing that outweighs any burden. No matter what the outcome, no matter what comes next, no matter what the next minute or hour or day or year brings, she makes it all worth it. I continue to be amazed by her, and I continue to maintain that her journey has a story to tell.

 So, we tell her story, as we live it.  We could choose to focus on all of the negative things, but we don't. We choose to know the reality of her situation, of her mutations, but we choose to operate with hope.  We follow this path with her knowing that when you're the 5th known case in the world with your specific mutation/ genetic disorder that even the most highly trained professionals don't have all of the answers. We know that we don't have all of the answers. We know that we probably never will. What we do know is that we have been given a great blessing. We have the rare opportunity of watching a miracle unfold, beat odds, and bring beautiful surprises to our lives every day. She is our blessing, our miracle, our princess.  The blessings on this journey always outweigh the burdens.  Always, always, always.Thank you for following, praying, and for supporting our Warrior Princess. It means so much to us!

New Hope and A New Set of Wheels

New Hope and A New Set of Wheels

Here are the updates on Elizabeth for the past week.  We have some newly hopeful news about her blood counts, a new mode of transportation, and some other positives to report. This was all good news in the midst of a horrific week. We unexpectedly lost our dear nephew, Chase, on Sunday.  He was a bright, talented, loving, kind, amazing young man, and his loss was devastating news to all who knew and loved him. Elizabeth has a big day of appointments on Monday, the 29th, at Children's, and that also happens to be Rare Disease Day. So, I will post an update later next week about the results from the appointments and tests on Monday, as well as why we celebrate Rare Disease Day, and what that means for our "Rare" Warrior Princess Elizabeth. 

Hematology and New Hope:

Elizabeth started receiving Iron Sucrose infusions earlier this month.  These infusions are to help to keep her iron levels within normal ranges, and to also help keep her hemoglobin levels up.  Her doctors suspect that she has an internal bleed, which is responsible for the dropping and unstable hemoglobin levels. They doctors were concerned last week about her hemoglobin counts being too low, and they were suspecting that she may have needed a blood transfusion this past week.  However, we are happy to report that on Monday in the Hematology/ Oncology Infusion Center that her Hemoglobin counts were within normal limits, and this meant that she would not need a blood transfusion.  This was very exciting news, not only because she didn't need a transfusion, but it was also an indication that the Iron Sucrose Infusions were working to keep her iron and blood counts up and within normal limits.  So, Elizabeth had her second Iron Sucrose infusion at Children's on Monday (Feb 22), and she did great.  Once again, she had no reactions, and so we will return on the 29th for her third Iron Sucrose infusion. She is scheduled for a fourth infusion, and after that how many or how often she will be getting the iron infusions will depend on her lab work and blood counts.  It is possible that I can do the iron infusions here at home, since I do all of her other meds/ central line care.  So, in the future if she needs additional or frequent iron infusions, then I will at some point be doing them here at home.

A New Set of Wheels:

After leaving Children's, Elizabeth had a second appointment at The Children's Institute in Squirrel Hill. This appointment was for an equipment evaluation for Elizabeth to determine which adaptive equipment would help her become more mobilized in her environment.  She is starting to walk and take steps with the assistance of a forward rolling walker, but she gets tired very easily.  She also gets more fatigued as the day goes on, which is common with individuals with Congenital Myasthenic Syndrome. She so badly wants to follow her brother around, and to be more involved in our daily activities, but it is very hard to carry her everywhere when she is too tired to walk or crawl.  We use a stroller in our house quite often, and we push Elizabeth around to where we are in the house. We had an equipment evaluation for Elizabeth last fall at the Children's Institute, and it was very helpful.  At the visit last fall, we decided that a gait trainer would be beneficial to help Elizabeth learn to walk and take steps.  The gait trainer helped tremendously, and she now is ready for the next step.  

The evaluation was very productive and helpful. I love the Children's Institute.  It is an amazing place.  The staff is always so helpful, and kind, and they have been a huge help in getting Elizabeth the equipment that she needs to be engaged in her environment in the best way possible.  Elizabeth's PT, Jenna, also attended the evaluation with her student.  My mom was also there, and we met with Miss Terri and the representative from Blackburn, which is a company that sells adaptive equipment. We discussed Elizabeth and her needs, and then we were able to try out different types of equipment for Elizabeth.  The evaluation resulted in us choosing a power wheel chair for Elizabeth, and we choose hot pink, of course!  We took her out in the hallway, and she immediately picked up on how to use the joy stick.  She practiced driving to my mom and I, and the look on Elizabeth's face was priceless. She was so excited to be able to move around and get to where she wanted with such ease.  Although we ultimately want her to walk as much as possible, it is not possible at this time for her to walk everywhere she wants to go.  It also may be a very long time before she has the strength to do so.  The power wheel chair will not prohibit her from walking.  In fact, she can get out of the chair and walk, with the assistance of her walker, anywhere she wants to or is able to walk.  The nice thing about the wheel chair is that when she is tired from walking, is too weak to walk, or when she just needs a break, she can sit and still be able to move around. It will be great for her to have in school, and at home, and it will be a huge help for us becoming more active in the community with Elizabeth.  So, our warrior princess has a new set of wheels on the way!  

The power wheel chair will take about 90 days to get here.  This is how long it takes for the insurance to get on board with paying for it, and then for the manufacturer to make one for Elizabeth according to her specifications.  The chair that we chose is made in the USA, actually right here in PA, so it shouldn't take long to get it once it is completed.  I will need to get a ramp for my van to load and unload her chair, which is not covered by insurance, but our van can easily haul her chair.  Right now, we are not going to have our van adapted, but in the future, we can have our van modified so that she would be able to use her wheelchair as a car seat by having the seat lock into our van.  In fact, she will be transported to and from The Western PA School for Blind Children each day in her wheelchair, as their buses and vans are modified to be able to do so.  We are really excited for all of the possibilities that Elizabeth's new set of wheels will provide for her.  I envision her chasing her brother through the house, and I sincerely hope that happens. 

What's Next?

On Monday the 29th (Leap Day AND Rare Disease Day), Elizabeth has a very long day at Children's in Pittsburgh.  She will start her morning off with an Iron Sucrose infusion in the Hematology/ Oncology Outpatient Infusion Center on the 9th floor.  Then, we will check into Radiology on the second floor.  There, she will be prepped to be put under general anesthesia.  Once she is under and sleeping, then she will have an MRI of her brain and an MRI of her abdomen.  Her doctors would like her brain MRI repeated to see if any of the congenital brain damage they observed on her initial brain MRI has changed or gotten worse in any way.  They are also looking for any new changes in her brain that could be explaining some of the new muscular and neurological symptoms that we are seeing in Elizabeth.  The MRI of her abdomen is to look for Crohn's Disease, a fistula that is connecting from the intestines/ rectum to the uterus/ vagina in order to explain why she has stool exiting from her vaginal area, and to also look to see if they can identify where she is bleeding from internally.  We are hoping the MRIs provide answers for her and for us, and that whatever they see, if it is able to be corrected, that it can be corrected with minimal risk to Elizabeth. We will finish up at Children's that day with an appointment in the Genetics Department to discuss the recent findings on her Exome Sequencing that revealed a genetic disorder caused by a mutation of the SON-Gene.  Elizabeth is reported to be the 5th case in the world with this genetic mutation, but we are hoping to learn what we can so we know how to best help her. I will update next week on what we find out. Thank you for reading, following, and for praying for our sweet girl. It means so much to us all. 

Blood, Gut, Hormones and Teeth: These are the updates for this week!

Blood, Gut, Hormones and Teeth: These are the updates for this week!

Disclaimer:  Unfortunately, this post has NOTHING to do with zombies.  Disappointing, I know.  

However, this post has everything to do with updates from Elizabeth's appointment this week!  

Hematology (Blood):

Elizabeth had her first Iron Sucrose infusion at the Outpatient Chemo Infusion Center at the Hematology Department at Children's on Monday (2/15).  She will have these infusions for the next three weeks on Monday, and after that we will take a look and determine how often, or for how long, she will need to continue getting the Iron Sucrose infusions. Her doctors determined that these infusions would be helpful to help to keep her hemoglobin counts stable. Recently, her hemoglobin counts have been dropping, and she also has iron deficiency, and both of these are occurring, because she has a bleed somewhere, we just don't know where she is bleeding from since it is internal. The hope is that these infusions will keep her hemoglobin counts stable and high enough that she won't need blood transfusions at all or as often. 

Her first infusion on Monday went really well.  The nurses in the Infusion Suite are all very nice and friendly.  They blew bubbles, sang, gave her a present, acted silly, and basically did whatever it took to help me keep Elizabeth happy during the infusion. Elizabeth tolerated the infusion very well, and she had no adverse reactions, which is wonderful. So, we will return next Monday (2/22) for her next infusion at Children's Hematology/ Oncology Unit.  

The only bad news is that her hemoglobin did drop this week, and it dropped from 9.7 (Feb 8th)  to 7.8 (Feb 15th).  This is just further evidence that she does indeed have a bleed somewhere. The lab work was drawn and processed before she had the Iron Sucrose infusion on 2/15, so we are waiting her blood results this coming week (2/22). If her hemoglobin counts are still low, then she will need a blood transfusion next week, as well as her Iron Sucrose infusion.  

I-Care (Gut):

The I-Care division at Children's is the Intestinal Care and Transplant team in the GI division at Children's in Pittsburgh.  They see Elizabeth due to her intestinal failure, GI motility issues, and need for TPN feeding via her Central Line. I love Dr. Alissa in I-Care.  He and his staff are simply amazing.  We have lots of good news about her gut to report.  

As I explained in my previous post, we started a new drug with Elizabeth in December called Reglan. It helped to kickstart her gut to get it to work!  This was nothing short of amazing.  Even Dr. Alissa is super pleased, and quite a bit surprised, that it did actually work.  As of right now, she is up to 40 ml/ hour/ 24 hours in her G-Tube, and just two months ago, she was not tolerating anything into her gut.  

Since her gut seems to be working, we are going to relish and cherish this progress.  This means that we can start to wean her body off of the TPN feeds, which is great.  She is doing so well with G-Tube feeds that she technically no longer needs the calories from the lipids that she receives 4 days a week in her TPN. So, we are going to pull the lipids from her TPN.  This is excellent, because the lipids in her TPN really cause the most damage to her liver, and by eliminating the lipids it will give her liver a much needed break.  She is also going to be receiving a reduced volume of TPN throughout the day, and she will only be infusing her TPN for 20 hours instead of 24 hours a day, which gives her entire body a break!  

As far as her g-tube feeds, she is also receiving a high enough volume to receive a daily break from g-tube feeds!  So, starting this week, she will work up to a 4 hour break each day from her g-tube feeds.  As we increase her daily break from her g-tube feeds, we will also be increasing her rate of feeds each day by 1 ml, just as we have been doing.  So, this means that today, for example, her rate for g-tube feeds is 39 ml per hour, and tomorrow her rate will be 40 ml per hour, and so on.  As long as she can maintain her blood sugars within normal levels during her breaks from TPN and her g-tube feeds, then we can continue to give her daily breaks from feeds.  It will be true freedom for her to have, even a little, time each day that she will be disconnected from lines and tubes and pumps!  

The breaks from TPN and g-tube feeds will occur simultaneously.  So, each day, she will not be receiving her TPN or g-tube feeds for the same 2 or 4 hours each day.  If during those breaks we have a blood sugar drop/ hypoglycemic episode, then I will treat her as recommended by her doctors.  I can either treat her using a medication called Glucagon to bring up her blood sugar, or I can simply restart g-tube feeds.  Hopefully, she can tolerate the breaks, and experience freedom from being connected, and even for a few hours have a taste of that freedom.  I can't even begin to tell you how exciting and hopeful this all is for all of us. We will see I-Care next month, and hopefully we have only more good news to report. 

Oh, one more thing, Elizabeth's growth chart looks incredible!  She currently weighs a little over 31 pounds, yes, 31 pounds.  We finally have broken an all time weight record.  She now weighs 10 times as much as she did when she was born, which is amazing!

Endocrinology (Hormones):

We have been following with Dr. Sorkin in Endocrinology for over a year due to suspected growth hormone issues, as evidenced by changes in her brain MRI to the corpus callosum and pituitary gland. We also follow with Endocrinology due to her Ketonic Hypoglycemia for treatment and monitoring.  Since Elizabeth is growing, and her Ketonic Hypoglycemic is being well managed by closely monitoring her blood sugar, and treating episodes with Glucagon, it may be possible to follow with Endocrinology once per year, or as needed, instead of every 6 months.  We won't be able to know for sure if this will be possible just yet, but it may be quite possible.  Currently, we have to wait for some labs that she will have drawn on Monday at Children's regarding growth hormone, pituitary and adrenal gland function, as well as her brain MRI on the 29th before we can know for sure if we can change how frequently she is monitored by Endocrinology. So, we will keep you updated on that!

Dentist (Teeth):

Celtan and Elizabeth had dentist appointments today.  We see Dr. Kobil in Butler, and their staff is amazing.  Our friend, Janet Peters, is a hygienist there, and it is always nice to see her when we are there.  I think she is Elizabeth's favorite, especially after today, because today she gave Elizabeth a Princess Wand after her dental exam.  Elizabeth really loved it.  Elizabeth and Celtan both were given excellent reports from the Dentist: no cavities and praise for clean teeth.  So, we are good in that department!  

 

What's Next:

This coming week, we have some additional appointments. Next Monday (2/22), Elizabeth has her second Iron Sucrose infusion at Children's, and then she has an equipment evaluation at the Children's Institute later that afternoon.  We need to determine if a new adaptive stroller or wheelchair will be the best next step for her.  So, we will be sure to update you on that, as well. 

Team Elizabeth Jeanne is also excited to give back this week.  On Saturday, I am helping to serve at a dinner for the families at the Ronald McDonald House at Children's.  My friend, Meghan, is hosting the dinner, and asked me if I wanted to help about a month ago. I absolutely said, yes! We don't qualify to stay at the Ronald McDonald House when Elizabeth is at Children's, because our address is about a mile too close for their distance requirements.  However, I have met many families during our stays at Children's who stay there, and I know what a wonderful service the Ronald McDonald House at CHP is for those families.  So, my sister Holly, Jason, Celtan and I put together 65 toiletry bags and 65 sibling activity kits to give to the families who attend the dinner from Team Elizabeth Jeanne. A special thank you to my cousin, Ashley Ciafre for ordering the bags and sunshine tags, and to Holly, my parents, Gram and Pap Kepple, and Aunt Debbie for helping to gather up items to put into the bags.  I'm so excited to be able to help out with the dinner, and to be able to give back.  It's such a great feeling to donate, give back, especially when so many people have been so generous and kind to us.  Elizabeth watched us with a clear look of sassy disapproval as we stuffed bags.  We must not have been working to her liking, but I think deep down she was just as excited as we were.  At least, that is what I'm telling myself. 

 If you like these updates, or the way that I write, I recently started a personal blog called "A Love Spiced Life." If you're interested, you can find it at www.alovespicedlife.com. 

Just for cuteness factor, here's a picture of Elizabeth looking at the Valentine that her brother made her, and cute pic of our growing princess!  We hope you have a wonderful day! Until next week, thank you for being a part of Team Elizabeth Jeanne. 

It's Been a While, So Much Has Happened, but We're Back!

 It's Been a While, So Much Has Happened, but We're Back

It has been so long, way too long, since I have written a blog post about Elizabeth.  In many ways, I don't even know where to begin.  Part of the reason why I haven't posted is because we had a lot of "shit hit the fan," excuse my language, with her very quickly this fall.  At one point we had spent 74 days of a 100 day period at Children's in Pittsburgh.  When you live at the hospital, its hard to update as often as I would like.  Also, let's be honest, their wifi sucks.  She gets world class, excellent care there, but their wifi is terrible. Another reason for lack of updates is that sometimes there are no words.  My family and I have to process things ourselves before we know how to share the information with others. Often times, we weren't getting clear answers about what was going on, and we were being given really bad news, and we just didn't know what to say.  One other overarching reason is that I've been super busy. Between managing Elizabeth's care, being a full time stay-at-home mom to Celtan and Elizabeth, and adding full time housewife duties in there, most days I don't know which end is up, and I often feel like Medusa by the end of the day. I feel like my looks would turn you to stone and my hair is all crazy. Anyway, we are back.  Disclaimer: this update will be lengthy, so read what you want, and leave the rest.  

Let's start with the good!

I tend to be an optimist, always looking at the bright side of things, or at least trying to.  For me, it's a survival tactic on this journey.  Laugh and love as often as you can is my motto. It keeps me sane.  Even though we have been through a rough, crazy, whirlwind with Elizabeth the past few months, we have also had many bright spots along the way.  I'd like to kick off this update by sharing some of them with you. We have been truly blessed by our family, friends and community. We have received so many acts of kindness and generosity in many different ways.  I'm sure I'll forget something, and I apologize for that. Please know that we sincerely appreciate every card, phone call, text message, facebook post, prayer, gift, generosity, and the many other ways that you have all blessed, and continue to bless, our lives. We will truly never be able to thank you enough. 

During our frequent and extended hospital stays from October until January, we were blessed with many people checking in, sending cards and other gifts to the hospital,  sending gift cards and food, and just coming to visit us.  We had so many people offer to help out with Celtan, and it was comforting to know that he was so well cared for while I was in the hospital with Elizabeth.  It is hard for both Jason and I to stay in the hospital with her.  Often, we end up there unexpectedly, and we often are not sure exactly how long we will be there.  Sometimes we are there overnight, sometimes we are there for over a month.  It just depends on what is going on with Elizabeth.  It's hard for Jason to be there all of the time, even though he wants to, because he works and doesn't have unlimited days off.  So, he comes down when he is able to.  It's also difficult, because I miss Celtan like crazy when I'm there at the hospital with Elizabeth.  It is truly terrible to have your heart torn in different directions, and when I'm there with her, my heart wants to be home with Celtan, and I'm in a state of nearly constant heartbreak, because I know that she needs me to be there with her. When you're 2 and you are in the hospital, you want your mamma to be there day or night.  "Mama" is one of the only words that Elizabeth says, and when she wakes up at night and calls out for me, like she regularly does, I whisper that "mamma's here," and she needs that reassurance.  Our time there is brightened by the generosity and kindness that people send our way during those hospital stays.  We sincerely appreciate it, and it means so much to us. 

In early December, a Paddle Party Auction was held for Elizabeth by some of our dear friends.  A huge thank you to Heather Hobaugh, Wendy Taylor, and Amy Price for all of their hard work in putting the benefit together.  Also, thank you to the community members, small business owners, and others who donated time, efforts, baskets and items to the auction.  We truly appreciated it all.  We came home from the hospital that day, and we were not able to attend to thank everyone personally, but it was a great feeling that there were so many people out there supporting us and our sweet Elizabeth.

Our Christmas this year was nothing short of magical.  I don't really have the words to express the efforts of everyone involved in putting Christmas together for our family.  I will never forget everything that was done to make our holiday so wonderful by so many people.  We were honored to have been chosen as Gap's Adopt-A-Family this Christmas.  I will never be able to thank Heather Hobaugh, her Gap and affiliate stores and employees, her many other elves along the way, and especially Santa for making our Christmas beyond words amazing. The fulfilled Christmas wish lists for our whole family, and Santa and his special elves delivered it right to our door.  Santa came a few days early, but he explained that sometimes he picks a special family to bring Christmas to early, and this year it was our family.  I thought Celtan's jaw as going to hit the floor when he opened the door and Santa was standing there.  Celtan was all about Santa this year, and a special appearance of him at our own house was an out of this world experience for him.  He STILL talks about it, and he asks me if I remember the time that Santa came right to our house.  Even Elizabeth was excited by her gifts, which is out of the ordinary for her, and Celtan got everything he wished for and more.  There were even gifts for Jason and I.  The work that Heather and her elves put in to making Christmas amazing for our family was truly unbelievable, and they are all angels in my book.  Here are some pics from our special Christmas: 

The link below is to the Flip A Gram Video of the Paddle Auction and our Christmas:

https://www.facebook.com/l.php?u=https%3A%2F%2Fflipagram.com%2Ff%2FhD5Qt7VKvL&h=HAQHL7Hyh&s=1

It turns out that it was a good thing that we had Christmas a few days early, because we ended up being in Children's over Christmas.  On December 23rd,  Jason and I loaded the kids in the car and were going to go and look at Christmas lights.  We weren't even in the car for five minutes when Elizabeth started projectile vomiting, and as I rushed to get her out of her car seat, she was burning up.  It was an immediate trip the ER.  Thanks to Aunt Debbie for meeting us and grabbing Celtan. We ended up coming home the day after Christmas, but she did have a central line infection, and she became sick very quickly, and it was very scary.  Jason spent Christmas Eve night at the hospital with Elizabeth, and Celtan and I stayed at the Family Neville House in Oakland nearby.  The next morning, we all spent Christmas together in the hospital.  We were surprised by what was in store for us there. We were given free vouchers to eat in the cafeteria pretty much all day, and there were gifts in the room for both Celtan and Elizabeth.  It was amazing.  Our Christmas was also complete, not only because we were together, but also because we had our very own Christmas tree in our room. Elizabeth loved the tree, because it was very sparkly and had lots of glitter.  Celtan just thought it was cool that we had our very own Christmas tree.  We were very thankful to the Giammatteo family for our Christmas tree, to the Sichler Family for the delicious cookies and other treats, and to the many others who sent food, cards and other items to make our Christmas in the hospital more happy and bright than we could have imagined.  We were also very grateful to all of the individuals and organizations who donated toys to Children's Hospital, so that all of the kids who spent Christmas there had plenty to open from Santa on Christmas Day.  It truly is an amazing place.

I'd also like to take a few moments to thank Bobbi Steele and her two beautiful daughters, Christine Steele and Chasity King. They were responsible for two acts of generosity and kindness to help out our family and sweet Elizabeth.  They put together a raffle in partnership with the St. Cloud, and they also put together a Paint Party Benefit for Elizabeth that was held in January.  Thank you to everyone involved, who bought tickets, donated time, and attended the paint party.  Also, thank you to Renee Patton and the St. Cloud for participating in and sponsoring the raffle! We love you all.

Lastly, a huge thank you to the Karns City National Honor Society for the sale of the "Team Elizabeth Jeanne" wristbands.  They are adorable, and we are totally amazed at the pictures of people wearing them in support of our princess, and the amount of people we have seen wearing them, and asking where they can get one.  There is a lot of good in this world, and there are so many young people with kind and generous hearts in our community. 

I'm sure that I'll miss or have missed someone that I should have thanked.  Just know that we appreciate all of it. All of it!  I've been writing thank you notes, finally, like a fiend lately.  I fill them out, and then I have Jason mail them.  I'm pretty sure by the time I'm done, and if I can get everyone's address, pretty much everyone in the KC School District will get one.  At least that's what I feel I need to do, because we are so very grateful for everything.

Oh, one more bit of good, we have been asked to be the 2017  March of Dimes Ambassador Family for the Western Pennsylvania Region.  I am very excited about the opportunity for several reasons.  First, the March of Dimes is an amazing organization that provides financial, research, and other support to help the lives of miracle babies and preemies just like Elizabeth.  Second, this will be an amazing opportunity to share Elizabeth's story with many, many, many more people.  She will be the poster child for their 2017 regional walks, and we will have the opportunity to speak at meetings, corporate events, and in many other capacities to spread awareness not only about Elizabeth and her story, but also about preemies, premature birth, and the precious nature of life for these miracle children.  We are going to be participating in the Butler County March of Dimes walk this year, and will be having a team for Elizabeth, and we will post updates on how to participate with us/ donate if you are interested in joining us. We are beyond ecstatic for this opportunity to share our story, journey, and to be able to be the face that helps the March of Dimes to help others.

Now for the Updates:

There's honestly so much to update, I'm not even sure where to begin.  Some of this is great news, and some of it isn't, but in the end we will continue to push forward. So, here we go, department by department:

Neurology:

In August, we had our first appointment with Dr. Abdel-Hamid, the lead neuromuscular disease doctor at the Children's Hopsital of Pittsburgh.  We transferred to her from our beloved Dr. Goldstein when the genetic testing revealed that Elizabeth had mutation of the AGRN gene and was diagnosed with Congenital Myasthenic Syndrome (CMS). Her mutation is very rare. In fact, she is one of only a few (less than 10) known cases in the world with this mutation.  Dr. Abdel-Hamid has been an excellent resource for us regarding Elizabeth's CMS, and she has also be consulting with Dr. Engel at the Mayo Clinic who is the leading world expert on CMS.  As of right now, she is taking Albuterol syrup for her CMS.  We have seen significant improvement in her muscle tone, and also in her endurance for physical activity, and although it has not helped her to begin speaking, the albuterol syrup has helped to improve her swallowing, which is amazing in and of itself.  We registered Elizabeth with the Muscular Dystrophy Association (MDA), as per Dr. Abdel-Hamid's suggestion.  CMS is housed under the MDA for research and treatment purposes.  We actually have created a team for the MDA Muscle Walk, which be be held in Pittsburgh, and we will be posting information on how to register or support Elizabeth's team for the walk.   We had Elizabeth fitted for special leg braces this winter called AFOs, and they have also helped tremendously to help keep her legs and ankles stable. Recently, she has been walking with the assistance of a walker, which is pretty amazing to see.  At this time, she can't walk around continuously, but she gets stronger and stronger every day.  Her CMS makes her more tired as the day goes on, and so sometimes by the end of the day, she can or will not stand at all, and she sometimes won't even sit by the end of the day.  It's just par for the course for CMS.  We are going to the Children's Institute in Pittsburgh in a few weeks for an equipment evaluation to determine if an adaptive stroller, wheelchair, or other type of equipment may benefit Elizabeth.  She has a walker right now that we are borrowing from her PT, and she also has a gait trainer, but her skills have, finally, surpassed the gait trainer.  We have plans to donate the gait trainer to a local family or agency since we are no longer using it. Paying it forward is always the way to go.  Dr. Abdel-Hamid is continuing to follow up with Elizabeth every 3-4 months in the MDA clinic at Children's.  We are also seeing major neurological development like increased alertness, better control over involuntary arm and leg movements, and increased cognitive function.  Elizabeth has recently started making progress in the use of sign language, and she is currently using about five signs.  She is also saying "mama," "Yellow," "hi," "more," "wow," and occasionally "dada."   She has been using eye contact more, playing with dolls and other toys appropriately, and she has been showing more social interaction.  She has even started waiving hello and goodbye, and she has started to pucker up to give kisses instead of just licking the side of your face.  All of these new developments are encouraging to see, and we are so proud of her as she continues to show neurological progress and development. 

There are some other neurological things that we are seeing that are not so good.  At this time, since it has been over a year since her brain MRI has been repeated, Dr. Hamid and her other providers feel that it is time to repeat her brain MRI to look for changes to the already known congenital brain damage that she has, and to also look for any new changes that may be responsible for the new and concerning behaviors that we are seeing in Elizabeth.  For example, she has recently had a lot of shaking and twitching of her hands and legs, especially upon waking up.  Elizabeth has also had major issues with her blood sugar, which could be a signal of impaired function in her pituitary gland.  She also has had some stiffening in her legs, and excessive blinking behaviors.  The brain MRI will be helpful in assessing changes in the brain that may be responsible.  She is scheduled for the brain MRI on February 29th, and it will be done using general anesthesia, because she will have to remain completely still for the test to be accurate. 

Immunology:

We are still waiting for the results from the radioactive assay test that is being conducted at UCLA to determine officially if Elizabeth has Nijmegen Breakage Syndrome.  As of right now, the only thing that the test has revealed is that Elizabeth does not have Ataxia Telangectasia, which she was once assumed to have by many of her physicians.  We maintain in close contact with Dr. Larkin at Children's in the Immunology Department.  She is continuing to monitor Elizabeth's Immunoglobulin deficiencies.  As of right now, she still has a IGA deficiency, and sometimes her IgG is low as well.  These are important for the proper functioning of her immune system, which explains why she has a reduced immune response, and gets sick more easily and frequently than other children.  We take many precautions to help avoid infections like frequent hand washing, wearing masks when she is sick or in public places or when we are sick, and a disinfectant station as you enter our house for the therapists and other visitors to disinfect their hands, etc. It seems to be working well, as she has had hardly any respiratory infections this year compared to previous years. 

Pulmonology:

Elizabeth has had a drastically reduced amount of respiratory infections this winter, and she has not had pneumonia at all.  So, Dr. Forno said to just keep up what we are doing.  She currently uses Flovent twice a day, and an Albuterol inhaler as needed for wheezing and when she is sick and coughing a lot.  She still has an unproductive cough due to the muscle weakness in her chest, but we now have a cough assist machine at home that we can use to help her cough out any mucous before it settles in her chest.  She continues to have some low pulse oxygen levels at night, and so we also have oxygen to use when needed.  Dr. Forno ordered a swallow study in the fall, and it revealed that Elizabeth now has mild sleep apnea, which is commonly found in individuals with CMS.  They are not going to treat her at this time as the oxygen and helping her to adjust her position in her sleep are enough to return her pulse oxygen levels to normal.  Elizabeth is monitored at night by a pulse oximeter, and her night nurses watch her levels and take appropriate actions if she has an alarm.  

Hematology:

Elizabeth was hospitalized at the beginning of January for a GI related issue.  Since October, we have noticed a declining trend in Elizabeth's hemoglobin counts, and they have been steadily dropping, or remaining stable (but low) since that time. In the early January admission to Children's her hemoglobin was in the 7s, which is low.  It was low enough that she needed a blood transfusion, and so she was given a blood transfusion in the hospital.  Since then, it has helped to bring her hemoglobin counts to normal levels. However, the reason for the continued drop in hemoglobin is cause for concern.  I have discussed this with Dr. Zitelli, her Hematologist Dr. Cooper, and the GI team in length.  There are many different theories, but Dr. Cooper and Dr. Zittelli believe that the true source of the dropping hemoglobin is that she has a bleed somewhere internally.  We just don't know where the bleed is, and its not showing up in the usual sources like urine, stool or gastric contents. Unfortunately, you can't go on a witch hunt for a bleed, especially in a child like Elizabeth, so we have to hope that it either stops or it shows itself one day.  Until then, we will monitor her hemoglobin counts, give transfusions when necessary, and all of that.  Her low/ unstable hemoglobin counts have caused an iron deficiency, and so Dr. Cooper has recommended that we begin iron infusions with Elizabeth.  By replenishing the depleted iron in her system, it should help us to avoid having infusions as frequently. The level of iron deficiency that she has isn't the type that can be corrected by diet or supplements, she needs something more, and this is where the iron infusions come in.  So, we will be taking her to Children's to the Hematology/ Oncology Unit for the next four Mondays (2/15, 2/22, 2/29 and 3/7) to receive infusions of Iron Sucrose.  We are hoping she tolerates them, and that it helps replenish her iron and maintain stability of her hemoglobin counts.  It is unclear at this point how often she will need these infusions or for how long she will need them, so as always we will just go with the flow and take her lead.

Endocrinology:

The Endocrinology team is pretty much stumped as to why Elizabeth has so much trouble maintaining her blood sugar, especially when she has to be disconnected to feeds via g/j tube or TPN. They also are stumped as to why she drops so quickly.  Hypoglycemia is very dangerous, and it can be very damaging to your body and tissues, and so you want to prevent hypoglycemia from occurring, especially in a medically fragile child like Elizabeth. In October, we were admitted, because she seemed very sleepy to me one particular day. She had no other symptoms. She was not shaky, sweaty, clammy, vomiting, nothing of the sort. She was just very sleepy.  She was currently on gut rest for feed intolerance, and she was getting Pedialyte instead of Pediasure through her g/j tube.  She had been fed this way and put on gut rest before, but something seemed very odd.  So, I took her to the ER, and I've never been so glad that I followed my gut.  After some initial tests, we were getting an ultrasound when her nurse (who by the way looked like a cross between Josh Hartnett and Freddy Prinze, Jr.) got a phone call, and I could tell by the look on his face something was wrong.  He hung up the phone and asked me how low her blood sugars have been in the past, and I told him they have been in the 50's before, which is very low. He immediately told the ultrasound tech that we would have to stop the procedure, and he rushed Elizabeth and I back to the ER. There were four nurses in the room waiting for us, and Elizabeth was becoming harder and harder to wake up.  The four nurses told me to stand at her head and try to keep her awake.  So, I did. I talked to her, sang, whispered, did everything I could.  They were busy sticking IVs in her to get fluids running, and to get what they call critical lab work.  I tried to keep her awake, as I watched four nurses rotate around her taking turns, and trying to literally milk blood out of her body that was shutting down. After a few minutes of everyone watching her intently, and myself feeling like time had stopped, she started to move around a show signs of waking up.  I later found out that her blood sugar was 23.  Most people would have had a seizure by then, or gone into a coma, but not Elizabeth. Again, she showed zero symptoms except for extreme sleepiness. We were in the hospital for a few days after that, and we left with no clear answers as to what had happened.  The Pedialyte has enough sugar that it should not have caused her to have hypoglycemia.  We did learn that she has a condition known as Ketonic Hypoglycemia, and they also suspected a Mitochondrial disease related to a defect in her Krebs Cycle function.  So, they reopened her exome sequencing with genetics to look for genetic mutations and mitochondrial disease that causes severe hypoglycemia. We now check her blood sugar at least three times a day, and on some days more often if there is an interruption in her feeds, she seems sleepy or is having other symptoms. If her blood sugar is below 70, we treat her with a medication called glucagon, which we can give her in a gel or as an injection. If that does not bring her blood sugar up reasonably quickly, then we head to the ER. So far, thankfully, we have not had to do that. 

Cleft/ Crainofacial:

Since Elizabeth isn't having much progress in the way of speech development, we don't know how her cleft is impacting her ability to make speech sounds.  So, we are only going to follow up as needed with Matt Ford, or when she begins to develop more speech sounds.  If it is determined that her cleft palate is impacting her speech, then she will likely require surgery. If her cleft palate does not seem to impact her speech, then she won't require any surgery.

Ophthalmology:

Elizabeth continues to make progress using the functional vision that she has, but she still has low vision, vision loss, and struggles with her Coritcal Visual Impairment (CVI) on a daily basis. She currently is seeing Dr. Nischal at Children's, and he is their lead genetic/ ophthalmologist.  She still has blue sclera, and always will, which means that the whites of her eyes have a blue tint.  This baffles Dr. Nischal, and he is on the hunt for the reason behind this.  She also is very close to needing bifocals, and Dr. Nischal suspects that he will transition her to bifocals at her appointment in April.  He has plans to discuss Elizabeth's case at a genetic conference at Children's in Pittsburgh, and also at his second practice in England at the University of Oxford.  He's a well published, and pretty incredible doctor.  He is very on top of Elizabeth's case, and it's pretty cool that she's being discussed around the world.  We still go visit our girls at Dittman Eye Care for glasses, and we love them. Elizabeth recently got new baby Ray-Bans. She's super adorable in them, well, at least I think so!

Genetics:

After the many hospitalizations and the new symptoms arising in the fall, several of her doctors requested that the Genetics Team reopen her exome sequencing.  This proved beneficial as they did find another mutation/ explanation for many of Elizabeth's presenting symptoms.  The testing revealed that she has a mutation of the SON gene.  The SON gene encodes the SON protein, which basically encodes and manages things on a RNA and m-RNA level in your body, which basically means that her cells don't know how to talk to each other, or cooperate, which explains why her bodily systems don't seem to cooperate with each other or work like they are supposed to.  She is one of five cases, ever, in the world, that they have found with a mutation of the SON gene. So, although it give us an answer, we don't know a lot about this mutation, or what it means for Elizabeth.  Genetics is working on getting me more information, and we see them in two weeks.  I also am doing my own research, because when you have a one-in-a-billion princess, well, that's what you have to do.  Hopefully, this new genetic diagnosis sheds more light than darkness in the end. 

ENT:

We continue to follow with Dr. Jabbour in ENT for Elizabeth's laryngomalacia, larygeal cleft, swallowing, and ear issues.  We saw Dr. Jabbour in September, and we were concerned by Elizabeth's inability to swallow her own saliva. Dr. Jabbour felt that Elizabeth would be a good candidate for Botox injections in her salivary glands to help reduce saliva production.  She had this procedure done this fall, and it has helped tremendously.  We see Dr. Jabbour again in March. 

Urology:

Elizabeth continues to show no signs of kidney scarring or enlargement due to her bladder reflux, which is mild.  She is currently continuing to take the Bactrim, because it seems to be working to prevent her from having UTIs.  The Bactrim is a daily antibiotic.  We will continue to follow up with Urology every 6 months to monitor her kidney function and effectiveness of the Bactrim.

Diagnostic Referral Group:

We see Dr. Zitelli in DRG, and he is the man, simply put.  If you google him, you'll find that he is a world famous pediatrician who has pretty much written the book on pediatrics.  I'm so thankful to have him on Elizabeth's case.  He helps me to manage all of the different departments in making sure they are communicating with each other about Elizabeth.  He also helps me get the ball rolling, as he presents with some authority given his stature, when I feel like her doctors aren't listening, aren't doing enough, or just when I have concerns and I want to pick his brain.  He's a diagnostic genius.  He has been very influential on getting to the bottom of the dropping hemoglobin, and also in getting some further investigation into an unfortunately bizarre GI situation that Elizabeth has going on. I just love him, and he's awesome. 

GI/ I-Care Team:

I feel like we are frequent flyers in the GI department and on the GI floors at Children's.  Long story short, almost all of our hospitalizations from this fall through January 2016 have been for some kind of underlying GI reason.  In October, after having a GI bleed, of which the source was never discovered, and surgery to do a Nissen Fundoplication on Elizabeth's stomach/ esophagus to help with her reflux, and a surgery for suspected malrotation of her intestines, she basically went into intestinal failure.  The cause of this is still up for debate and unknown at this time. However, we went into the hospital tolerating 24 hour j tube feeds, and we left the hospital with a much sicker little girl who was in intestinal failure and on 24 hour TPN through a central line inserted into her carotid artery in the upper right side of her chest. It was heartbreaking to say the least.  I have since become a full time nurse via trial by fire, if I wasn't already before, and I learned to do all of her central line care including changing and hooking up her TPN, changing her central line dressing, and drawing her weekly labs from her central line.  After many dismal conversations with doctors, and watching her tolerate the TPN less and less, it was heartbreaking to say the least.  Your body is simply not designed to tolerate TPN 24 hours a day.  They had tried to send her home with a daily break from TPN, but when the TPN rate was reduced or the TPN was stopped,  then her blood sugars would drop, and often dangerously low, so she was not able to tolerate a break from the TPN. We were officially transferred from the GI service to the I-Care (Intestinal Care) division at Children's in early December.  At our clinic appointment in December, Dr. Alissa decided to try to give Elizabeth a medication called Reglan to try and kick start her GI system.  Reglan truly is a nasty drug that comes with many nasty side effects.  In fact, from your very first dose, it can cause serious neurological side effects that once they begin to present cannot be reversed.  So, it was with caution that we decided to even attempt this medication.  We just simply felt it was a last resort, and that with the current state of affairs, we weren't out anything to try it.  You cannot be on Reglan long term, because after about 12 weeks of taking the medication, you're pretty much guaranteed to develop neurological symptoms known as Tardive Dyskenesia, which mimic Parkinson's symptoms. So, armed with a list of neurological symptoms to keep an eye out for, we started her on the Reglan, and hoped for the best. Reglan creates a brain to gut connection, by acting as a dopamine antagonist.  It has also been proven effective in stimulating hunger while reducing symptoms of nausea.  After starting the Reglan, and watching her like a hawk, I started noticing positive things.  For example, she was watching people eat, mimicking chewing motions, seemed interested in food, which are all things that even when she was eating by mouth that she never did before.  I knew that the Reglan was doing what it was supposed to do. It was creating a brain to gut connection to make Elizabeth's failure to thrive brain that never previously understood hunger, or had an interest in eating, to understand hunger and want to eat. I knew she had been made NPO (nothing by mouth) in May due to swallowing safety reasons, but my mom gut told me that she was ready to eat.  I went to sleep one night, and I had a dream that she was eating. It was beautiful.  I woke up so convinced that she was ready to eat, that I was ready to get up and go to Wal Mart at 3 am to buy baby food and cereal.  I just knew that was it and that she was ready. The very next morning, I started to run Pediasure through her g tube, because her j-tube drainage that had persisted for months has suddenly dried up. That day, she began tolerating G -tube feeds for the first time since she was labeled with intestinal failure in early November. We had an appointment that week with Dr. Alissa in I-care, and he could not believe that she was up to 12 ml/ hr for 24 hours a day through her g-tube.  I also told him about my observations of her interest in eating, etc. and I asked to have a swallow study done to see if her swallowing was safe. We agreed to proceed in a cautiously optimistic fashion, but secretly I was jumping up and down inside.  The plan was to increase her G-tube feeds by 1 ml per hour per day, and if she continued to tolerate g-tube feeds, and could get up to a rate of 25/ml/hour, then they would begin discussing giving her a break from the TPN, and he also ordered a swallow study.  I was to call in two weeks with a progress report.  In two weeks, I called to report that she was up to 25 ml/ hour, and that she had passed a swallow study with an open cup, thin liquids, and all kinds of textures for the first time in over a year.  It was nothing short of miraculous. She showed no signs of aspiration during the swallow study. She showed no signs of penetration into the airway during her swallow study.  These are both things that we have never seen before on any of her swallow studies.  She displayed rotary chewing, which is how humans chew.  Keep in mind, this child has been NPO, nothing by mouth since last May!  We weren't working on it in therapy. I will admit that once I knew she was tolerating Pediasure into her g tube that I began to give her small bites of baby food by spoon, carefully watching for any sign of distress or aspiration, to give her some practice before sending her for a swallow study for the first time in over a year, but she amazed even me.  I cried as I watched her swallow normally, beautifully, on the screen.  She truly is a miracle.  So, now she is allowed to begin a progression to eating by mouth, and she is continuing to tolerate g-tube feeds.  In fact, as of today (2/14), she is up to 34/ml/hr through her g tube.  On top of that, she is currently getting a reduced volume of TPN, and has a one hour ramp up, a one hour ramp down, and is only infused TPN for 22 hours instead of 24.  The even better part is that she is keeping her blood sugars up! The target is 50/ml/ hr of g tube feeds of pediasure 24 hours a day in order for her to have adequate calorie and fluid intake through her g tube. At that point, we can consider getting her off of TPN all together.  What a glorious day that will be.  I remain cautiously optimistic. I know there will be set backs.  I know that no matter what I do know that I never know what each day will bring, but I also know that I have been given a miracle to watch unfold before my eyes, and what greater blessing could I possibly ask for than that. So, here's to Elizabeth. In 16 days, she will reach her target goal of 50 ml/hour if she continues to tolerate on her current path.  She also has been eating by mouth like a normal two year old.  She gobbled up my homemade Chicken Noodle Soup the other night. I'm happy with this progress.  I'm so proud its intoxicating.  We see I-Care again on this Thursday.  Oh, and guess what, she's finally up to the 30 pound mark!  

Other Updates:

Elizabeth is still currently receiving Early Intervention services, but we are in the process of transitioning her out of EI as she approaches her third birthday.  She still receives 2 hours of PT, OT, Speech, and Vision each week, as well as 1 hour of DV and 1 hour of Nutrition each week.  The current plan is to transition her from EI to the Western PA School for Blind Children's Preschool in Oakland.  They have an amazing program, and her doctor's feel that this will be an excellent fit for her.  I am nervous for her to start school, but I think she will love it. Elizabeth is very smart and motivated, and I only see good things coming from this transition.  We love our EI team, and they are a huge part of our lives, and we will miss them like crazy, but I'm excited to see what comes next for Elizabeth when she starts school. 

We, knock on wood, have not been an inpatient or to the ER since early January.  It would be great to keep up this trend for at least a little while. The truth is that with a child like Elizabeth with rare genetic and medical disorders, you just never know.  So, I keep my van packed full of clothes and other gear to survive hospital stays. 

Well, that's all I have for now.  We have fourteen scheduled appointments between now and early June, and I'm sure that number will only expand.  I'm beginning to embrace the stay-at-home mom life, even though it is by far the toughest job I've ever had, and I've had a lot of different jobs.  I recently realized that I'm kind of crafty, and I've started painting and crocheting.  I'm planning to at some point open an Etsy shop.  I've also recently realized my love of cooking and baking. It's become a game of sorts for me to see how efficiently I can run this ship while wearing the hats of mom, wife, sister, friend, daughter, nurse, pharmacist, respiratory therapist, housewife all simultaneously most days.  I'm not complaining.  I love it. I'm up for the challenge.  In fact, I recently started a blog called "A Love Spiced Life" where I share recipes, mom/ housewife hacks/ tips, crafting ideas, and discuss surviving motherhood. It's a great outlet for me, and I hope you'll stop over and check out the page some day. You can find the blog at www.alovespicedlife.com, links to blog posts on Facebook at https://www.facebook.com/A-Love-Spiced-Life-229151344091964/?ref=hl or follow me on Twitter and Instagram at @alovespicedlife.  I also recently started a Facebook page for Elizabeth, if you haven't already liked it, and you're on Facebook, you should check it out.  I frequently update with info on Elizabeth, and I also post links to blog updates for her on the page.  Please share it with your friends, and like it yourself if you haven't already done so. You can find her page at: https://www.facebook.com/teamelizabethjeanne/?ref=hl

Thank you, as always, for being a part of Team Elizabeth Jeanne. We love you. We appreciate you, and we simply don't know what we would do without all of your love, support and prayers.