The Big Send Off, A Breath of Fresh Air, and Lingering Questions

The Big Send Off, A Breath of Fresh Air, and Lingering Questions

Wednesday was a big, long day at CHP.  We had follow-up appointments in Pulmonology and in the Cerebral Palsy Clinic.  It was also the day that we were finally able to have our blood drawn for genetic testing and sent to Baylor College of Medicine.  Our first stop that day was to the lab at CHP. Elizabeth and I both had our blood drawn, and the tech packaged it up and sent it out for a Fed Ex Express Delivery.  So, now we wait, and hope and pray for answers and for the best. Elizabeth and I had matching "battle wounds" and proudly displayed them.

Our appointment with Pulmonology was with Dr. Forno.  He is really great, and we really like him.  He cleared Elizabeth for surgery, and he again put a plan in place should any breathing difficulties arise as a result of anesthesia during her G-Tube surgery.  It was a truly a breath of fresh air to hear Dr. Forno say that he also feels that the G-Tube is the best thing that we can do for Elizabeth to keep her well and to help her grow. He also said that he felt that it would improve her breathing, reduce coughing and that if that was the case we could consider reducing the use of her Flovent to only during cough and cold season. We will of course have to wait and see how things go after having the G-Tube placed in Elizabeth. It is possible that her coughing and breathing issues are related to her aspiration.  If that is the case, we should see her breathing easier and coughing less once she gets the G-Tube.  It is also entirely possible that her coughing and breathing difficulties are caused by her immune deficiencies and recurrent upper respiratory infections.  If that is the case, then the G-Tube will provide little aid for breathing and coughing.  So, we will watch and wait, as always.  Dr. Forno would like to see Elizabeth again in July to assess her breathing and coughing, as well as her progress on the G-Tube.  We may consider a special vest for Elizabeth in the future if the coughing persists in order to help her cough be more productive.  In the meantime, we will continue with the Flovent daily, the Albuterol as needed, and just to watch and see how her breathing and coughing changes in the next few months.  Hopefully, the change is for the better. 

We had a few hours to kill after the Pulmonology appointment, so mom and I went to the cafeteria to grab something to eat.  We were surprised when we left the cafeteria and headed back to the main lobby to find that the Disney Store had tables set up that were FULL of a wide variety of Disney toys. One of the volunteers saw Elizabeth and motioned us over to the table.  There was already a line of kids swarming around.  The volunteer said to choose a toy for Elizabeth, and that the toys were donated for the kids from the Disney Store.  I looked on the table and saw a Princess Sophia doll, and I picked it up for Elizabeth.  She LOVES Princess Sophia.  I showed her the box, and Elizabeth reached out for the doll and cracked a smile on her little face.  I took the doll out of the package and handed it to her.  She held onto it in her stroller. It is a beautiful doll, and it sings.  So, THANK YOU to the Disney Store for the awesome surprise.

Our last appointment was with the Cerebral Palsy Clinic.  These appointments are always so long, because you see multiple providers.  We saw a nurse, a social worker, the PT, the OT, two Speech and Language Therapists, a fellow and Dr. Patterson.  They all have good insight and suggestions, and we spent most of the appointment updating them about the numerous developments that have taken place since we first saw them in September.  If you've been following Elizabeth's story, you may remember that one of our first big visits was to this clinic.  In September, they had said that they did not feel that she had Cerebral Palsy, and they did not feel that she was a typical case. They said that they did want to follow up with her though and watch her progress, because sometimes it takes time to make an official diagnosis of Cerebral Palsy.  So, since September, we have continued to see delays despite growth in some areas of development, and we also know about her different forms of brain damage that were found on the October brain MRI.  We discussed all of these things and what that means for Elizabeth.  We also discussed our rehabilitative equipment needs, plans for services, etc.  At this time, the insurance won't approve any more adaptive/ rehabilitative equipment since we just got the gait trainer. The gain trainer is great, but Elizabeth has a fairly low tolerance because it is a lot of work for her.  So, we need a supportive stroller, but they are expensive, and again we've been denied by insurance because we just got a gait trainer.  (One a side note, I was put into contact with an amazing mom of a beautiful special needs girl named, Bella, by my new friend, Alisha Hoover Cooper--who you may know as the mom of the amazing Avery Sue.  Anyway, this mom is giving away Bella's Adaptive stroller, because she outgrew it. It is exactly like the one we were looking for to get for Elizabeth, so I am working on meeting up with her to get it and test it out.  We are truly surrounded by angels, as these strollers are very expensive. A prayer answered indeed!) We decided that our next piece of equipment for Elizabeth needs to be a supportive stroller or a wheelchair to increase her mobility.  We are hoping that the G-Tube makes her grow and makes her stronger so that she can increase her tolerance in the gait trainer.  The team also told us that since she was able to sit by age two that it dramatically increase the likelihood that she will walk someday, but we just don't know when.  In the meantime, until she is able to walk, or tolerate the gait trainer for long periods, a wheelchair may be our best option to allow her to be independent and have mobility.  So, we are going to revisit that idea as we follow up with the clinic and continue to monitor Elizabeth's progress. 

The big question that we talked about that day and that still lingers is this:  Does Elizabeth have Cerebral Palsy?  Dr. Patterson answered the question.  She said that Elizabeth meets all of the criteria for Cerebral Palsy. She has brain damage, developmental delay and speech delays.  However, they still do not view her as a typical case due to her many other medical issues.  Since the genetic testing has been ordered and approved and we are waiting for answers, the Cerebral Palsy clinic team is also waiting on those results before they formally diagnose Elizabeth with having Cerebral Palsy.  If the genetic testing reveals an overarching diagnosis for her brain damage, developmental delays, speech delays and other medical issues, then there really is no need to add Cerebral Palsy to the list, because the symptoms can be explained by something else.  However, if the genetic testing reveals a diagnosis that does not explain the three key diagnostic criteria, then they will formally diagnose her with Cerebral Palsy.  So, again we wait, and the question lingers, and we don't have a formal diagnosis even though she meets all of the criteria.  Sounds so familiar, and we have definitely heard that before.  We will follow up with the clinic in six months.

On Friday the 20th, we had our last visit with Elizabeth's pediatrician, Dr. Vigliotti.  He is sadly leaving the practice in  June, and we will be transitioning Elizabeth's care to Dr. Kisloff.  We love them both, but Dr. Vigliotti has been amazing.  We will be very sad to see him go.  He gave me a big hug before I left the office, and I will say that I am definitely going to miss him.  It was just a weight check, and her weight is the same as she was before she had pneumonia, which is good.  She lost several ounces when she was sick. She is still at the very bottom of the growth chart.  Dr. Vigliotti agrees that the G-Tube is a good decision for Elizabeth.

If you're looking for something to do this Sunday and you are in the area, the Team Elizabeth Jeanne committee has put together a benefit that will be this Sunday, March 22 from 1-7 p.m. at the Holy Trinity Lutheran Church in Chicora.  My cousins and family, as well as many friends and colleagues, have worked really hard to put it all together.  They have done everything to plan for this event, and we are grateful that they would want to do this for Elizabeth.  The only thing they have asked us to do is to show up, and so we will be there.  They are putting on a spaghetti dinner with raffle items and entertainment.  The cost is $10 for adults, $5 for kids, and there is take out available.  The generosity and angels surrounding our sweet girl is just amazing.  We are very grateful to all of you. 

Urology and the UTIs and Unexpectedly Soon News

Urology and the UTIs

Back in October, Elizabeth spiked a fever.  After a couple of weeks of visits to the pediatrician and being told it was "just another virus," I disagreed and demanded that we do some investigating and not assume that it was "just another virus."  The next day I received a phone call from the doctor that she had a UTI (Urinary Tract Infection).   In January, Elizabeth exhibited a similar array of symptoms, and after testing it was revealed that she again had another UTI. At this point, we were referred to Urology.  Her team of doctor's agreed that with all of her other complex medical symptoms that these two frequent UTIs needed further investigation. 

Our appointment with Urology was on March 11th.  After reviewing her medical history, various tests, urine cultures, etc., the Urologist decided that these two UTIs were close together and did warrant some additional investigation, especially with Elizabeth's complex medical history. Since we already know that she has a compromised immune system due to her IgA Deficiency and "unspecified immune deficiencies," and we know that she also has a lot of trouble fighting off infections, the Urologist decided to put her on a low dose of maintenance antibiotics.  This is routine for individuals with frequent UTIs, and it is also something that we have discussed with her Immunologist, Dr. Larkin.  It would be beneficial to Elizabeth with not only helping her already weak immune system to fight off UTIs, but it will also help to fight off the various other bacterial infections that she also seems to pick up easily and struggles to fight off. There are also some risks associated with a daily dose of antibiotic, like an increased risk for diarrhea and developing a tolerance for antibiotics, etc., but the benefits outweigh the risks for her. So, Elizabeth is now on a daily, low dose of the antibiotic Bactrim.  

The Urologist also explained that due to Elizabeth's hypotonia (low muscle tone) that she was in a group at higher risk for UTIs.  Her hypotonia could be preventing her from emptying her bladder effectively, and it could also be causing her to have a condition known as bladder/ urinary tract reflux. This reflux occurs when urine goes back up the ureters from the bladder to the kidneys, instead of going from the bladder out of the body. Her hypotonia could be making it harder for her body to effectively control how her urinary tract system functions, which could be causing the frequent UTIs.  Her urine often smells strong, and she has been prone to unexplained fevers, so it is highly probable that she has had more than two UTIs, but they were just chalked up to "another virus."  Since frequent UTIs, bladder/ urinary tract reflux, etc. can cause damage to her urinary tract, we need to find out what is causing the UTIs.  If it is simply her immune system, then the antibiotics will do the trick.  However, we need to know if it is bladder/ urinary tract reflux, and if that is the culprit, then we need to know how severe the reflux is so that we know how best to treat it.  Children with bladder/ urinary tract reflux most often grow out of it, but some do not. The antibiotics will help any infection that is caused by the reflux, but sometimes surgery and other procedures are done depending on the severity of the reflux. 

You've probably guessed it by now, and yes, this means another test.  The test to diagnose and investigate bladder/ urinary tract reflux is called a Voiding Cystourethrogram or a VCUG. Instead of going into details, let's just say that it doesn't sound like it will be pleasant.  I'm told that it is not painful, and she will be awake, but it will be uncomfortable to say the least.  The Urologist wanted to have the test done before her G-Tube surgery on March 30th, just in case they need to do something in surgery that day to help control her bladder reflux.  So, we are scheduled to have the VCUG on March 24th in the morning, and we are also having a follow up later that afternoon in Urology to go over the results and to create a plan. I am glad that they are working so well with us to try to coordinate this testing before her G-Tube surgery, just in case it means they need to do some other procedure while she is under anesthesia that day.  I'm a little frustrated that this hypotonia, which she has had since birth, has reared it's ugly head, yet again, and may be the culprit behind yet another medical issue for our sweet girl.  However, we need to know if this is the reason, and we need to do what we can for her to stop it, and so be it.  She is so tough. It won't even phase her.  Elizabeth really is amazing.  I'm sure people get tired of me repeating this, but she TRULY is a miracle.

On a more awesome note, I received word last week that the next level of genetic testing was APPROVED by our health insurance.  I seriously almost fell off of my chair when Katie Long from Genetics called to tell me that.  Katie was also surprised that it had been approved so quickly.  The Microarray testing took months to approve, which is the same testing that we were denied in November, had to appeal with the Insurance, and then they approved it and took 22 days to inform me that they approved it, which then resulted in me writing a letter detailing my disgust in their notification and appeal process, and how they wasted precious time in my daughter's life by being incompetent!  Anyway, the next step for genetic testing after the Microarray was the Exome Sequencing.  We all assumed it would be a similar story to get approved, but Katie Long called me just a week after the paperwork was sent to the insurance company to tell me that it was approved and we could proceed with the testing.  A WEEK!! That's it!!!  Katie jokingly said that I must have made quite an impression on the insurance company.  As in, "Oh, Geez, just approve this so this crazy Mamma will stop calling us and writing letters reminding us about how inept our processes are, blah, blah, blah."  Well, persistence pays off, and I'm proud to say that I'd do it all over again, and will continue to do that, to ensure that Elizabeth gets EXACTLY what she needs to help her. So, Jason, Elizabeth and I will all be having DNA samples collected and sent to the lab.  The test is done at Baylor College of Medicine's Lab in Texas.  It will take 14-15 weeks to get results.  We are having our testing done on the 18th (today), so we should be getting results sometime this summer.

We have been on a search for answers, and I'm grateful that the insurance company sees the necessity of the exome sequencing and the answers that it will provide for us and most importantly for Elizabeth. It is expensive testing, and I've talked to many families that have been denied this testing for a variety of reasons for their precious children.  I have talked to many other families who have had exome sequencing, and it has provided them with answers that have been both a blessing and a bit of a curse.  It seems unreasonable to think that when you're searching for answers that any answer could be both of those things, a blessing and a curse, but it is the reality of the situation.  I have said over and over again that sometimes the answers you seek are not the answers you want to hear.  An answer is an answer.  It is an explanation.  It gives us an idea of what the future will likely hold, what the progression of "this" is, and a name for "what" this is and "what" it means ultimately for Elizabeth.  As a parent in this situation, the prospect of these answers is both joyful and terrifying.  Joyful in the fact that you might finally be able to know what is behind all of these complex medical and developmental issues that your child deals with on a daily basis.  Terrifying in the fact that once you get to this stage of genetic testing, the answers are often rare, complex and sometimes unknown things that have no cure, that don't provide promising prognoses, and that quite possibly can change the course of everything you had planned and hoped for your child.  We want answers, so we seek them.  She continues to amaze doctors, and I have no doubt that whatever the diagnosis is in the end that she will continue to amaze and inspire.  We refuse to let her be pegged into a diagnostic hole and let it determine who she is and what she can and cannot do.  There is always hope.  Hope is what turns the terrifying into joyful.

Today, March 18th, Mom and I are headed to Children's to get some blood work drawn on Elizabeth and I for Genetic Testing and a research study that we are participating in.  Then, we have follow up appointments in Pulmonology and the Cerebral Palsy/ Rehabilitative Medicine Clinic.  Who knows what the day will bring?  I just know that at the end of the day, that it will still be hopeful.  When I see Elizabeth doing things like crawling and trying to stand, which we were not certain she would ever do, when I hear her infectious laugh and bright smile, when I twirl her curls around my fingers as she is looking up at me with those big, brown eyes behind pink glasses, I know that there is hope and lots and lots of love.

Speaking of love,  check out these pictures.  Elizabeth seriously adores her big brother.  She is constantly watching him, following him, and wants to be near to him.  Celtan just adores Elizabeth.  He is so good with her.  He is patient with her, and he loves to help her in therapy.  Here are some pictures of them on Sunday... just look at how much they love each other. :-)  Enjoy your day! I hope it is full of love and hope and laughter.

The Time Has Come

The Time Has Come

The old adage states, "If March comes in like a lion, then it will go out like a lamb."  This has certainly been the case for us.  March came in roaring like a lion for our family as we closed out February with illness, a trip to the ER, and appointments on March 2nd for Elizabeth.  We are hopeful that March will pass by and close out like a lamb as promised in the old proverb. 

As you may know if you read the previous post, Elizabeth became sick in mid-February with pneumonia.  Jason took off pretty much the entire week to stay home with her.  She was too sick to send to daycare.  Thankfully, my Aunt Lori helped us out and came in to our house to watch her one day so that Jason would not have to take off.  It did not seem that the antibiotic was working, and so we had a follow-up appointment with her pediatrician at the end of the week, on February 27th, and they changed up her antibiotic hoping for better results.

Elizabeth did not have much of an appetite during the week, and we attributed that to her having pneumonia and not feeling up to eating or drinking.  However, on Friday evening into Saturday we struggled even more to get her to eat or drink anything.  On Saturday morning, we decided that we needed to make a trip to the ER. She was not herself.  Elizabeth was very lethargic, cranky, and kept grunting and seemed very uncomfortable. So, my mom and I took Elizabeth to the ER at Children's Hospital while Jason stayed at home with Celtan.

The Children's Hospital ER very quickly took care of Elizabeth.  They checked her vitals, ordered some lab work, and decided that she needed IV fluids.  The labs revealed that she was dehydrated and her blood sugar was low. So, they continued giving her IV fluids, and we got her to drink a little bit of juice.  Within a few hours, she was perking up, and by the time we were discharged, she was a completely different little girl.  She was happy, playing with her IV lines, smiling, and I was relieved to see the transformation in her.  She really worried me earlier, and I knew that there was something wrong.  I was so glad that they were able to help her, and that it was a relatively easy and quick fix. The new antibiotic seems to have done the trick, too, and the pneumonia is gone.

We had a swallow study and an appointment with the Cleft/ Craniofacial Division and her ENT on Monday, March 2nd.  We have been waiting for this appointment, because the results of the swallow study were a big piece to the equation for Elizabeth having a G-Tube.  The original plan was to have a series of appointments during the month of March, and to reach a verdict on whether or not she needed a G-tube sometime at the end of the month.  The swallow study was being done as a follow up to her surgery in December for her swallowing issues. We were hoping to see much improved  results on the study.

The study showed that her swallowing was not showing much improvement since the previous swallow study that was done in September.  We did notice that she did not show any silent aspiration on the study, which was excellent news and evidence that filling her laryngeal cleft during the surgery in December was successful.  However, as the test continued, we noticed more evidence that she was still at a high risk for aspirating while eating and drinking.  We stopped her eating and drinking during the study as we saw deeper penetration of fluids into her lungs and heading towards going down the wrong pipe.  We did not want her to have a full aspiration, especially since she was recovering from having pneumonia.  The evidence was before us on the test, and it gave us a huge piece to the G-Tube equation.  We now knew that despite the surgery, that she was still at a very high risk for aspiration.  The main culprit:  her low muscle tone.   The longer she ate or drank during the study, the worse her swallowing appeared on the test.  The more prolonged the eating, the more likely she is to aspirate.  Her already weak muscles become tired, and she has progressively less control over her swallowing to prevent liquids and foods from going down the wrong pipe and leading to aspiration into her lungs.

We realized that once we found out that she had pneumonia, and then with the ER visit for dehydration, that the G-Tube was becoming more and more of a possibility.  When we left the swallow study, we knew that there was even a greater reason for Elizabeth getting a G-Tube.  If her swallowing is unsafe, then the G-Tube is vital for safety reasons and to prevent aspiration into her lungs due to her poor ability to swallow effectively. We headed to the appointment with Matt Ford in Cleft/ Craniofacial and to Dr. Jabbour the ENT to have them weigh in on the results and our next steps.

During our appointment with Matt Ford and Dr. Jabbour, we discussed a lot of the reasons why Elizabeth has difficulty swallowing and compared the two swallow studies. While the surgery seems successful in the fact that we did not see any silent aspirations, there are still major safety concerns related to her swallowing.  Her sub-mucous cleft palate is also likely contributing to her swallowing issues, because it prohibits her from having an effective latch, suck and swallow reflex.  However, we can't have her cleft palate repaired until we see how her speech develops, and right now we are not making much progress in the way of speech development.  The primary culprit for her unsafe swallowing is her low muscle tone.  She has low tone and muscle weakness all over her body, which is also one reason why she is so delayed in achieving gross motor milestones. Unfortunately, there is no surgery that can be done to correct or improve the muscle tone in her throat and airway.  At the end of the appointment, the verdict had been reached, and the time had come for us to get a G-Tube put in Elizabeth to provide a safe, efficient and effective means to keep her nourished, hydrated and give her a safer way to eat and drink.

The intent is for the G-Tube to be temporary, but time will tell.  We see Dr. Jabbour and Matt Ford in ENT/ Cleft and Craniofacial Division in 6 months.  We will repeat the swallow study around that time, or possibly later, to see if her increased nutrition has helped to further develop her muscle tone, which will further develop and improve her swallowing.  That is our hope.  If we can get her bulked up and growing from the nutrition from the G-Tube, then the theory is that as she grows and is better nourished, then her muscle tone will improve, and so will her swallowing.  If these things occur, then the G-Tube will be temporary.  If the muscle tone does not improve, then the G-Tube may become more of a permanent thing. Only time will tell.  In the meantime, we were referred to Pediatric Surgery to set up an appointment to have a G-Tube placed in Elizabeth.

Also, the plan will be for her to still eat by mouth, especially purees.  She has poor oral motor skills, and she does not bite or chew very well.  Her OT and Speech Therapist work on feeding therapy during their twice weekly sessions.  We don't want her to loose any of the feeding skills that has has now, and we also still want her to keep exercising her muscles in her mouth and throat.  If the G-Tube is going to be temporary, we especially do not want her to lose any feeding skills.  So, we will feed her what is safe and what we can by mouth.  The benefit is that on days when she doesn't want to eat, or only eats a little bit, by mouth, then we can supplement her diet by feeding her with the G-tube.  So, meal time and her poor appetite will no longer be a struggle.

I was naturally a little bit upset about the verdict being reached regarding the G-Tube.  We had all hoped that it could be avoided, and we were all expecting to make the decision at the end of the month.  However, the time has come for a variety of very valid reasons, due to recent issues with weight loss, dehydration, pneumonia and a swallow study that indicated that her swallowing is clearly still unsafe, it is for Elizabeth's well being that it is best that we do not wait any longer.  So,  I made an appointment with Pediatric Surgery for Friday, March 6th. The surgeon on Elizabeth's case will be Dr. Austin, and we have heard that she is wonderful.

Jason took off from work to attend the appointment with the surgeon with me.  We sent Celtan to the Lemieux Sibling Center at Children's Hospital while we were at our appointment.  We met with the surgeon and discussed the procedure, a little bit about what to expect after surgery, and we also discussed the necessity of the surgeon doing a procedure called a "Nissen Wrap" to Elizabeth to help make her G-Tube experience more successful.

A "Nissen Wrap" is done on many patients with G-Tubes who have a history of reflux and low muscle tone.  Although Elizabeth does not have reflux, she does have low muscle tone.  The "Nissen Wrap" would be beneficial to her to help prevent reflux that could be caused by her having low tone,  Kids with low muscle tone, like Elizabeth, are at a higher risk for experiencing reflux after a G-Tube is placed due to the fact that fluids and feed are directly being placed in their stomachs.  Sometimes, the body will push foods up through the esophagus (reflux) rather than have them go down the other natural direction through the small intestine, etc. This occurs in children with low muscle tone, because their low tone sometimes makes it difficult for their bodies to effectively stop the reflux.  So, at this time, we are planning to do the Nissen Wrap.  After talking with several doctors, parents of children with G-Tubes, nurses, etc., we feel it would be the best thing for Elizabeth to prevent reflux and to help her have a more successful experience with the G-Tube.  So, the day of her surgery, they will place a G-Tube into her stomach.  Then, they will perform the "Nissen Wrap" procedure, which will make a tighter seal around her esophagus to help prevent any reflux that may occur due to her low muscle tone.

We left the appointment, and we scheduled her surgery for March 30th. Then, we picked up Celtan at the Lemieux Sibling Center.  He played there while we were at the appointment, and he said that he had a great time.  He even made a craft!  Celtan asked when he could go back, so he has an appointment to go back and play at the center when I take Elizabeth to her Urology appointment on March 11th.

We had some time to kill between the surgery appointment and her Upper GI test in the Radiology Department.  I had made arrangements to have a meeting for Celtan with a Child Life Specialist.  I was grateful to Breanne Gray for helping to set up a session with herself and a Child Life Specialist, Maggie, to explain the G-Tube to Celtan.  Maggie brought a doll with a G-Tube and a bear with a G-Tube.  She explained to Celtan what that would look like, what it will do for Elizabeth and how it will help her.  Maggie told Celtan that we will feed Elizabeth through the tube to help her grow and be stronger.  He listened and then asked if he could keep the bear.  Celtan kept the bear with the G-Tube, and he will explain to anyone who asks that this is how his sister will eat to help her grow big and strong. He named the bear, Ted E. Bear, just in case you were wondering.

We finished up the day with Elizabeth's Upper GI test.  This test is standard procedure to have done prior to having a G-Tube placed just to look at the anatomy of the stomach and the esophagus prior to surgery. Elizabeth did very well during the test.  Her esophagus and stomach are the right size and shape and in the right place, which are all good things to hear and to know before they put the G-Tube into her stomach. Here are some pictures of our day at Children's.  Celtan loves the toy triceratops!

Since Elizabeth will require quite a bit of care, and there will be a lot to learn about the G-Tube (how to change it, clean it, amounts of feeds, etc.), her doctors, Jason and I agree that it would be best for her to be home.  Also, the first 12 weeks require trips to the hospital if anything out of the ordinary occurs with the G-tube.  So, my last day at Karns City for the year will be Friday, March 27th, and I will be taking unpaid leave for the remainder of the school year to be at home to care for her.  I am so appreciative for the administration at KC being so understanding about our situation.  While the prospect of not getting paid is going to impact us significantly, it will be the best thing for Elizabeth.  I will be returning to KC in the fall.  In the meantime, it will allow me to be at home and to focus on her and her care.  We will become experts on her feeding tube, and we will have time to figure out care for her in the fall when school starts back up.

We ended our day on Friday on a very high note, because we were informed that we were going to be given 4 tickets for our family through the "Izzie's Gifts of Hope" Foundation for Sunday evening. They were sponsoring this event as a night out for special needs children and their families.  We were thrilled about this news, especially Celtan.  Every time he saw the commercial on TV for Disney on Ice he asked if we could go. He loves Disney!  However, we would not have been able to afford to take him, so we were very grateful for the tickets.  I had found out in the meantime that my family was going to surprise us with tickets, but since we were given tickets it allowed my sisters, Holly and Becca, to attend as well.  So, Jason, Celtan, Elizabeth and I all had seats in the Izzie's Gifts section, and my parents, sisters, and my sister Emily's kids and her husband all had tickets in another section.  It was a really fun night.  I cannot begin to accurately describe the joy on Celtan's face as he saw all of his favorite characters come out onto the ice.  He sang along, danced and laughed, and it was evident that he was having an amazing and magical time.  Jason and I were pleased to see that even Elizabeth seemed to like the show. We were worried about the noise factor with her Sensory Processing Disorder.  However, on more than one occasion, we saw her kicking her legs, which is usually a sign that she is happy or excited.  We also swear we saw her try to clap at one point.  She only made it through the first half of the show.  Jason pushed her around Consol Energy Center for the second half.  We were impressed that she made it that long.  It was a night that we will always remember, and we cannot thank Izzie's Gifts enough for a night full of wonderful memories. Here are some pictures of the kids at the event.

Elizabeth also has been recently showing some interest in her Princess Sophia tea table.  She crawled over to it, turned and looked at me, and so I sat her up in the chair.  She sat there for about 5 minutes playing with her vanity set and tea toys.  I watched her and took pictures with tears in my eyes.  She only shows interest in a few specific toys, but you could see how happy she was to be sitting at that table.  I think the pictures say it all, so you can decide for yourself.

We have appointments this week with Urology, because the doctors are trying to figure out if there are any physiological reasons why she keeps having recurrent UTIs.  I'll be sure to update after the appointment.  Our secret angel has struck again, and it was a very pleasant surprise.  We are so grateful to all of the wonderful people who have sent us cards, because some have very generous surprises in them.  We are so incredibly humbled by the generosity that so many people have given to us throughout this journey.   From the cards, to the prayers, to people making food for us, to being given tickets to see Disney on Ice, we are so incredibly grateful.

Here are just some pictures of our two greatest blessings:

Our Sweet Girl is Sick

Our Sweet Girl is Sick

Well, I'm pretty sure I jinxed us when I wrote in the blog on Saturday saying that we were thankful that Elizabeth's continuous upper respiratory infection had not yet developed into pneumonia, because Elizabeth now has pneumonia. :-(  It was confirmed yesterday with a chest x-ray.  We started her on another dose of antibiotics and hoping that she can fight it off on her own so that we can avoid the hospital. So, she could use your prayers.  We will be following up with the doctor later this week, and if she gets worse or isn't much better in a few days then we will have to come up with another plan of action.

Celtan stayed with Aunt Holly yesterday while we took Elizabeth to the doctor to get checked out.  He loves spending time with his Aunt Holly.  While they were together, they built a snowman.  He was so proud, so I thought that I would share the picture with all of you.  For only being 4 years old, he is a super good sport about everything that goes on with Elizabeth.  He truly is an awesome big brother.

Benefit Updates

Benefit Updates:

As I posted a few weeks ago, my cousins and sisters are hosting a benefit for Elizabeth.  Everyone in our family are completely overwhelmed with the amount of support that has been shown for the benefit from people offering to donate, help that day, who are planning to attend, etc. Jason and I are not involved in planning the benefit, obviously, it was quite the surprise to us when the girls told us about it.  However, I do have a lot of people who have been contacting me asking how they can help.  So, I decided to post updates on the blog about the benefit and who to contact if you have questions or want to help.  

Recently, a friend of one of the girls offered to host a way to help out with the benefit through her photography business.  The contact information and details are on her flyer.  Thank you to Ashley Binus for offering to help out with the benefit.  We really appreciate it! 

A friend of Jason's cousin is offering to help Elizabeth  through her Premier Jewelry company.  We appreciate Terri offering to help, as well! Here is her flyer if you are interested in ordering. 

There is also a Go Fund Me site that has been set up by a colleague of Jason and I.  We are so grateful for Megan setting up the account.  It can be found at:  http://www.gofundme.com/kkrlog  

The girls in charge have set up a volunteer website to help with the benefit.  If you'd like to sign up to donate items for the benefit or to help on the day of the benefit, you can do so on this website.  If you would like help with signing up, you can contact one of the girls.  I'll post their contact info below.  The link to the volunteer website is:  http://www.volunteerspot.com/login/entry/9978464280103. 

The benefit will be held on Sunday, March 22nd from 1 p.m. to 7 p.m. at Holy Trinity Lutheran Church in Chicora.  There will be a spaghetti dinner with take-out available and all ages are welcome. Tickets will be $10 for adults and $5 for kids.  You can purchase tickets at the door. There will also be a Basket Raffle and Silent Auction Raffle Items.  Some bigger items that will be there will be a handmade rocking horse, Pens Tickets, and an IPad Mini.  There have been so many wonderful baskets and other items donated for the benefit.  Other details are on the benefit event flyer.  We will be there that day so that people can meet Elizabeth, and also so that we can thank people for their support. 

If you would like to contact one of the Team Elizabeth Jeanne Benefit Committee members, you can do so by contacting them via email.  Their email addresses are:

1.  Holly (Bly) Wilson: hollyjbly@gmail.com

2. Emily (Bly) Rekich:   emrekich516@yahoo.com 

3.  Kellie (Kepple) Johnston:  kckel134@aol.com

4. Katie (Kepple) Callihan:  KT.Callihan@aol.com

5. Ashley (Kepple) Ciafre:  ashleyciafre@gmail.com

6. Laura Kepple:   laurakepple@yahoo.com 

You can also let my parents (Jeff and Amy Bly) or any family member know if you're interested in helping, and they can fill you in on details.

We also received word that the Butler Lions Club is taking an active role in helping the girls with the benefit.  We truly appreciate their support of Elizabeth and the help that they have extended toward the benefit.  If you know a Butler Lions Member, please tell them thank you.  I cannot thank them enough for their support.

Seriously, thank you from the bottom of our hearts to everyone who reads this blog, who has offered to or already signed up to help with the benefit, and who support us in various other ways.  The prayers, donations, support are appreciated more than you can imagine.  We love you all!

Feeling the Love in February

Feeling the Love in February

Well, February has been cold, cold, cold here in PA.  Right now as I type this recent blog entry, it is snowing outside again. We are warm inside of our house, spending yet another day in our pajamas, and we have water now (thanks to my dad).  We couldn't ask for much more.  Truthfully, we are all a bit stir crazy.  School was only in session 3 days this week due to the extreme cold, but hopefully the weather will break soon. Until then, we are operating happily in the realm of super heroes, princesses, Hungry Hungry Hippos and the Teenage Mutant Ninja Turtles version of the game "Trouble."  I love to watch Celtan play, and lately Elizabeth has been really interested in watching him play, which is also simply incredible to see. 

We continue to be overwhelmed and filled with gratitude by the amazing amount of support that has been extended to us from our family, friends and community.  I will be adding another post today to discuss the upcoming benefit. I have had many people contact me and asking how they can help.  We still are humbled and very thankful for everything.  Our secret angels keep storming us with very generous gifts, inspirational notes and cards, and our prayer angels are keeping up the vigil sending prayers our way.  We appreciate it all more than you can imagine.  Thank you to our one secret angel for the continuing gifts of Wal Mart gift cards, which have been a tremendous help to us to get things for Elizabeth, groceries, etc.  Also, a big thank you to the lovely Valentine's themed card from another secret angel in disguise that provided us with kind words, a gift card to Wal Mart AND a gift card for us to have a date night.  We have yet to go out on our date night, but when we do, we will be sure to thank you again then.  The mystery of trying to figure out who these people are is actually a fun way for us to pass the time while we wait for answers and continue on the path.  I hope that one day I find out who all of you nameless angels are and can thank you properly, but part of me realizes that I may never know who you are and may have to continue to thank you regardless of knowing your identity. Celtan particularly enjoys the mail. Again, thank you to all of our supporters.  We truly and sincerely appreciate it.

Elizabeth has recently made some progress and has also been continuing to struggle with infections.  Since mid-January, she has had a recurrent respiratory infection, which has included an abundance of mucous, a cough, intermittent fevers, etc.  We have been using suction to clear out her snot, inhalers, cool mist, elevating her bed, and anything really to keep her comfortable.  We have also been keeping a close eye on her cough and have been to the Pediatrician's office several times in the past month to have her cough checked out. Thankfully, this upper respiratory thing has not spiraled into something worse, like pneumonia, but she still can't seem to fight it off. 

Last week, Elizabeth started spiking some higher-than-usual intermittent fevers. She was not her usual happy self, was refusing to eat, and seemed very lethargic.  So, I left school early one day to take her to the doctor.  They swabbed her for the Flu and for Strep Throat.  They also catheterized her and got a urine sample.  Thankfully, the Flu and Strep tests were negative.  However, the nurse called me the next day to tell me that Elizabeth's urine was again infected and showing growths of E.Coli. So, they started her on another antibiotic. The antibiotic seems to be helping her out.  However, this is her third UTI (Urinary Tract Infection) since November, and now we are being referred to Urology. Her team of doctors feel that a referral to Urology is warranted, because that is a high number of UTIs in a short amount of time.  They want to try to determine if there is something physically that is causing the frequent UTIs, like Bladder Reflux or some kind of malformation in her urinary tract.  So, we are scheduling an appointment in Urology.  

We had a nice, quiet Valentine's Day at home. Since Elizabeth was sick, and we had yet another snow storm that day, we stayed in.  We watched movies, played games and with toys.  Celtan kept giving Elizabeth hugs and trying to give her a kiss while telling her Happy Valentine's Day. At each attempt, Elizabeth would give her brother a dirty look, as if she was saying, "Leave me alone!"  It was rather entertaining, and we call that look, "The Princess Stink-Eye."  At least that is normal, she definitely lets you know when you're annoying her. Celtan really enjoys holidays.  He made up a song about love, and his family, and kept saying, "Happy Valentine's Day, I love you guys!" It was adorable, and I did get a video of it that I sent out to our family. 

On Monday, February 16th, we had several appointments scheduled at CHP and at the Children's Pine Center in Wexford.  I had scheduled the appointments on that day, because we were supposed to be off from school.  However, we were then scheduled to have school that day as a snow make-up day.  Then, that day we received a blessing that school was cancelled, which meant that I wouldn't be taking an unpaid day to take off for the appointments.  It also meant that Jason could bring Celtan home after his Dermatology appointment in the morning, and that I wouldn't have to manage Celtan and Elizabeth all day at CHP.  I knew that either my dear mom or my lovely Aunt Susie would be with me on that day to help, but it obviously is never ideal to have to entertain an energetic 4 year old boy at the hospital all day. Thankfully, we didn't have to.  Jason brought Celtan home with him after the Dermatology appointments, and Mom and I took Elizabeth to CHP for her remaining appointments. 

Our first appointments that day were at the Pine Center in Wexford at Children's Dermatology.  We saw Dr. Kress.  Elizabeth and Celtan both had appointments that day.  Celtan has been seeing Dermatology for his eczema since he was about a year old.  He is currently on a combination of allergy meds, anti-itch meds, steroid creams and moisturizers that are doing a remarkable job of keeping his eczema under control.  We had an appointment with Elizabeth that day about the ever present rash on her cheeks. She has had this rash on her cheeks since she was just a few months old.  It has continued to spread and grow, and it has never gotten better no matter what kind of cream or ointment we have used on it.  It also flares up whenever she is sick, and it even sometimes looks like it is blistered or ulcerated depending on the flare-up. Dr. Kress looked at her and said that what she had was called Keratosis Pilaris (KP), and it is a form of eczema.  It is known to be on your face, arms or butt, it runs in families, and it also is known to flare during illness.  There are creams to treat it, and so he gave us some samples.  So, now we know what the facial rash is on Elizabeth.  It is the only place that she has the rash, and hopefully we can find a cream that will treat it.  Elizabeth also has issues with sensitivity to sunlight.  When she is exposed to the sun, even a tiny amount, she develops red rings around her eyes that look like a severe sunburn.  Elizabeth's team of doctors wanted Dr. Kress to give his opinions on Elizabeth's skin and her sensitivity to sunlight. Dr. Kress agreed that her skin is very translucent and hyper-elastic, which means that her veins are very easy to see through her skin and that her skin is very stretchy. Dr. Kress also said that based on the appearance of her skin and other clinical symptoms that he would like to order a few blood/ urine tests to test Elizabeth for porphyrins, which are responsible for a series of disorders known to cause sun/ light sensitivity.  The issue is that we have to wait for the sun to come out again, and wait for her to have a reaction to sun/ light exposure, because the testing has to be done while she is having a reaction. So, Dr. Kress wanted to see her in two months to see how the treatment for her KP was coming along, and he will order the lab work at that time.  So, once we have the lab orders, and she has a reaction to sunlight, then we go straight to the lab and have them drawn or taken for the testing. We are going back to see him in April. 

We left Wexford and headed to our next appointment at CHP with the Developmental/ NICU Follow-up Clinic. Elizabeth has been seen by them every 6 months since she was born.  This division is provided partially through a grant, and it is intended to serve as a tool to monitor the development of NICU babies after they are discharged and sent home. It is very helpful, but this appointment is always very difficult for me.  Those of you who have been following since I started the blog may recall that it was at our NICU Developmental Eval appointment in August 2014 that recommended an appointment with the Cerebral Palsy Clinic for further evaluation.  At the eval, a team of Developmental Psychologists and a Pediatrician conduct an assessment on Elizabeth to assess her overall progress towards developmental milestones in the areas of cognitive development, receptive and expressive language, and gross and fine motor skills. While we cherish any accomplishment she makes, and we have come to terms with the fact that she accomplishes things on her own time, we do know that she is delayed. This is very clear to anyone, especially when she is around other kids her age and even younger than her.  Typical kids Elizabeth's age, and kids younger than Elizabeth, do a lot of things that she does not do, does not attempt to do, and that we aren't totally sure she will ever do.  That's ok, though, that's what makes her a miracle and makes her special. However, in these evaluations, as I watch her not be able to complete tasks over and over again, it is disheartening, and every single time this appointment ends with me being in tears.  The team always tries to comfort me, and then I feel totally lame and weak for crying in front of them. They always discuss the results with me, and this time Elizabeth's scores dropped in every category, except they remained the same in receptive language. The point is that although we see her making a lot of progress, and the clinic team even acknowledges they have seen amazing progress even since they saw her last in August, the test and skills required for her age keep growing while her skills in those areas are not necessarily growing at the same rate.  This is why her scores drop, remain the same and do not show growth, and it really boils down to the fact that she is severely developmentally delayed and is not developmentally close to her same age or adjusted age peers.  Deep down, we realize this.  I realize this.  It doesn't make it any easier to hear or cope with, but it also just makes us love our little miracle even more.  It makes us appreciate the hard work that she has to put in, the motivation she has, that enables her to accomplish any of her milestones.  She will be able to follow-up one more time in this clinic, and then her team will determine which clinic should continue to monitor her development.  NICU graduates can only be followed by this clinic until they are 2 years old, adjusted age, which is why her next appointment will be her last with this team.  The objective measurements of her development although heartbreaking and tear-jerking for me are actually a very helpful tool in monitoring her development.  Hopefully, in 6 months we see at least improvement on some scores, but if not we will keep plugging away and appreciating the achievements as they come.  

Our last appointment that day was with the amazing Dr. Amy Goldstein.  I affectionately call her, "The Brain," because she is our clinical brain, our neurologist, and she has been immensely helpful to us in a diagnostic sense.  Even though we don't have a diagnosis just yet, she has been a driving force in helping us to get there.  Dr. Goldstein is brilliant, compassionate, personable, and everything that you want as a doctor on your child's medical team.  I just love her.  Anyway, she checked her out.  We reviewed symptoms, recent appointments and developments. I told her about the benefit and all of the generosity that has made taking Elizabeth to Boston and UCSF possible. She is thrilled that we will be taking Elizabeth there this summer, especially to see Dr. Sherr at UCSF.  Then, we talked about the Microarray Genetic Testing, because the results were back.  Genetic Testing is a bit of a gamble, which is one reason why insurance companies are so reluctant to pay for it.  We have known all along that we would have to fight to get the insurance companies to pay for the test, and that even after the fight that these tests may not tell us anything. The reason is that the Microarry and Exome sequencing available only test for known variations that cause known genetic disorders.  The realm of genetics is constantly evolving, and geneticists are always finding new genes that do things that we never knew about before. This is one reason why we may not have answers any time soon. We have known this all along, and we are hoping that we get answers from this testing that we are fighting for with the insurance companies.  However, Elizabeth is a medically complex case, and although she has a variety of medical diagnoses, conditions, anomalies and many delays, the testing may not give us an answer or name a syndrome that will explain all of her symptoms and medical complexities.  It doesn't mean that she does not have a syndrome or a genetic condition, it just means that as of this time the doctors don't KNOW what it is and they don't have a NAME for it. There are thousands of families in this position.  There is clearly something wrong with their child, and the medical professionals all agree on that, just like they do with Elizabeth, however, at this time there is no answer for them, because medical research and technology and testing hasn't found or given a name to that answer yet.  So, families like that and like us are in a holding bay of sorts waiting for answers.  We are essentially waiting for medical knowledge and research to catch up with our mystery kids. It is no wonder why we call our kids who fit into these categories "special."  They are special indeed. So, the position that we are in now is one without answers, because the Microarray was negative.  We have known, and her team of doctor's have expected, that the Microarray was probably going to be negative and additional testing would have to be ordered for Elizabeth. Their predictions were correct, and now we are petitioning the insurance company to pay for a genetic test called "Exome Sequencing." This was actually always our plan, because even if the Microarray had come back with a positive result for some kind of genetic syndrome, the Genetics team wanted to order Exome Sequencing to learn more about the Microarray results.  Now that the Microarray was negative, we really need to have the exome sequencing done to have a chance for answers.  We also realize that even if we are granted the exome sequencing from the insurance company that we still may not have answers, because it is highly likely at this point that whatever syndrome Elizabeth has that it is either unknown at this time or it is very rare.  Dr. Goldstein has a really remarkable way of explaining things, and here is how she explained the difference between Microarray Testing and Exome Sequencing.  She uses an analogy about books.  Dr. Goldstein says that a Microarray is like taking a Harry Potter book off of the shelf and noticing that Chapter 7 is listed twice in the table of contents, or that there is not a Chapter 2 listed because it skips from Chapter 1 to Chapter 3.  It is a broad, quick glance at a person's chromosomal composition.  Are there too many of one chromosome or is one missing?  However, in some cases (like Elizabeth and other rare and complex kids), you look at the Table of Contents and the chapters are all listed in sequential order.  There are no missing or duplicated chapters.  However, when you go through the whole book, you may notice that pages are missing.  For example, as you are reading you realize that the book is missing pages 10 through 25 and later on is missing another 30 pages at the end of the book, despite the fact that the table of contents looked intact and correct. It is for these rare and complex kids that the Microarray is inadequate and often inaccurate, and it is also why for these kids exome sequencing is necessary.  So, Elizabeth's team of doctors at CHP has sent a request to the insurance company with medical documentation and reasoning as to why the Exome Sequencing is medically necessary. We now are waiting for their answer, and if they deny it, then we will appeal as we did before.  The test itself will take about 14 weeks to get results sent to us. Dr. Goldstein said that they wanted to know if I wanted a job there.  We won Elizabeth's Microarray on the first appeal, and according to the doctors this is a rare occurrence.  So, they asked me on my end to keep up whatever I did before to help with the Microarray appeal, and I fully intend to do that.  So, I will begin calling UPMC next week to check on the status of the Exome request. Hopefully, the exome sequencing brings us answers and a diagnosis.  However, if it does not, we will be like thousands of other families who will be waiting, waiting, waiting, and so we will wait along with them.  One day, we will know what this is, and what has caused all of these medical and developmental issues for our Elizabeth.  We wait in anticipation of that day. 

In other brighter and happier news, Elizabeth is continuing to progress with her crawling.  She has even been trying to pull herself up.  She is not steady enough to remain standing for long, and she often doesn't know how to get back down to a seated or crawling position safely, so we have to be close by to help her and make sure she doesn't get hurt.  It is really great to continue to see her make progress in this area. She also has been wanting to sit on the floor and play with toys lately, which is another development. 

Also, both Celtan and Elizabeth have been matched with runners/ athletes through IR4.  I Run 4 Michael  and I Run 4 Siblings the Unsung Heroes are organizations that assign athletes/ runners to special needs children and their siblings.  Their premise is to run for the people who can't, offer support to the siblings of special needs children who often get pushed to the side and are the unsung heroes, and to provide relationship building, inspiration and support to special needs children and families.  Their website is http://www.whoirun4.com/about-ir4/ if you want to read more about this wonderful organization. Celtan has been matched to Susan Osborn through the IR4 Siblings the Unsung Heroes Group, and Elizabeth has been matched to Robyn Oliver Cabaday through the IR4 Michael group. We have made contact through Facebook with both of these amazing women, and we are looking forward to building relationships with them.  I hope that you check out the IR4 website, because it is a really wonderful organization.  Celtan is very excited and had lots of questions for his match, Susan.  He truly is Elizabeth's unsung hero.  He loves and adores her.  He is always cheering her on, and truthfully he does get pushed aside sometimes due to the care and attention that she requires. We will keep you updated on our relationships with these two ladies. We graciously welcome them to our journey and to Team Elizabeth Jeanne. 

I'm also going to create an additional post with updates on the benefit. We have several appointment days in March, so I will update the blog after those appointment dates.  March will be a big month as a follow-up swallow study is scheduled, and the G-Tube verdict will likely be rendered at our GI appointment.  Thank you, as always, for reading and for being a part of our journey.  Elizabeth is stronger, we are stronger, and we are so grateful for all of you.  We love you all!!! Here are some pics of our Elizabeth!

News and other updates

News and Other Updates

Hello!  I hope that you're all enjoying this bleak and cold winter weather.  I do not like the cold, but I do love the sight of the snow.  I just don't really care to be out in it.  Celtan has really been enjoying all of the snow, and he and Jason built a snow castle and a snowman in our back yard.  We just have a few updates that we wanted to share with our followers.  I cannot believe that the blog has reached over 5000 page views.  It is amazing to me that we have so many people checking and rechecking the blog for updates and to learn more about our journey with Elizabeth. We appreciate all of you!



Insurance Company:

On January 28th, Dr. Vigliotti's office (Elizabeth's Pediatrician) called to let me know that they had received word that UPMC Health Plan had granted our First-Level Grievance and had agreed to pay for the Microarray Genetic Testing.  We were thrilled, because this testing is going to be really important for us to get answers regarding Elizabeth and her many medical and special needs.  So, I spent the afternoon calling and letting her team of doctors know that the testing had been approved.  Her DNA has been waiting in the lab since November when the test was ordered, and now Neurology could tell the lab to go ahead and perform the Microarray testing.  Her neurologist, Dr. Safier, ordered the testing, and so the lab would need for his office to notify them to go ahead even though it is a genetic test.  However, I received a call later that day from Dr. Safier's nurse.  She informed me that she could not contact the lab without written verification from the insurance company. 

I had to call UPMC Health Plan to get some kind of written verification about the testing.  So, I called and after being put on hold for approximately 30 minutes on and off, I was finally transferred to someone who could help.  I was very upset, and less than kind, because I found out that they had reached a decision on the Microarray Testing on January 6th.  It was the 28th of January.  I had called them at least a dozen times to check the status of the grievance between the 6th and the 28th, and each time I was told that they had not reached a decision yet.  Furthermore, my anger at the insurance company increased, as did my blood pressure, when no one could explain to me why I had not received notification from them in writing of a decision that was made by them 22 days earlier.  The customer service person also agreed that she could not understand why I had not been notified.  I told her that I needed verification today, and that she had five minutes to have a copy of the letter sent to my email or faxed to me, and that I would be on the phone with her until I received it.  I also said that I wanted a copy mailed to me.  She did email me a letter immediately.  I received a written letter from UPMC yesterday in the mail.  I printed the email copy of the letter and faxed it to Neurology.  They then sent the verification to the lab, and the testing is currently in the process of being done.

Their inefficient and inept handling of our grievance really upset me.  It takes a lot to make me as mad as I was at UPMC Health Plan.  However, as far as I'm concerned, their careless and inept handling of the notification process cost us weeks and precious time in regards to the medical care necessary for Elizabeth.  I don't mind waiting for them to make decisions about expensive testing, but I do mind them waiting three weeks to notify us about their decision.  Especially since if I had not called, and if the Pediatrician's Office had not notified me, then we STILL may not know that we had won the appeal. The other frustrating thing to us is that this Microarray testing will take 4-6 weeks for us to get back.  If they had notified us promptly when they had made their decision we would be getting results back any day now. There is really no excuse for them wasting precious time. 

I also recently found out that another local special needs parent also had a similar issue with UPMC Health Plan.  She was notified two weeks ago that her child's genetic testing had been approved in NOVEMBER!  That's right, in JANUARY she was sent a letter stating that they had made a decision in NOVEMBER.  This family has been waiting all of this time for notification, and again their inept handling of notification on grievances made a family needlessly wait and waste precious time for answers for their child.  So, I drafted and sent them a scathing letter about my disgust and recent experience. I encouraged this other mother to do the same as well. 

On a positive and happy note, we are getting closer to more answers for Elizabeth.  Also, I was informed by Genetics that it is rare to win a first-level grievance on genetic testing, and that we should be pleased.  I am pleased that the insurance company made the right decision.  I just wish they had been more timely in their notification.  The moral of the story is that persistence pays off!

Gastroenterology (GI)

We did receive more good news from her GI doctor, Dr. Lindblad.  He called me on Friday evening.  Dr. Lindblad reported that Elizabeth's remaining stool samples came back normal.  Also, he decided that we are going to push the scoping back at this time.  He had wanted to do an upper endoscopy and colonoscopy to check her digestive system for signs of inflammation and other abnormalities that may be causing the diarrhea and failure to thrive. He does want to do these tests in the future, but since she has again had so many viruses recently he wants to hold off until she has a period of good health.  Dr. Lindblad said that this would ensure that any abnormal findings would not be due to her digestive tract being irritated by a virus. It was so nice to receive a phone call from him, especially on a Friday night after 6 p.m.  It means a lot to us when the doctor's themselves take time to personally call us.

Hematology:

I did speak to Dr. Cooper, her Hematologist, last week as well.  Right now, we are not going to follow up with Hematology on a regular basis.  We will do so if her anemia becomes more frequent or other issues arise.  He did say that when she reaches adolescence/ adulthood that she should not have any products with estrogen due to her Factor V Leiden.  Estrogen produces increases chances of developing a blood clot, and so does her having Factor V Leiden, so it is recommended to avoid estrogen products. Dr. Cooper also reinforced a discussion that I had previously with Dr. Larkin (her Immunologist).  He said that they have marked in her permanent record that if Elizabeth should ever need to receive a blood product that it needs to be cleaned first.  Since she has low levels of IgA, which is an immunoglobulin, she is at a higher risk for adverse reactions to receiving blood products.  Cleaning the blood products first helps to reduce the risk of a severe reaction to receiving a blood product. So, hopefully she never needs a blood product, but if she does it is something that we will need to alert medical professionals to and remind them that it is in her chart, if they didn't already see it.

Consults and Trips Scheduled for this Summer:

Due to the recent and overwhelming flood of generosity, the amazing people who surround us (ALL OF YOU) have made it possible for us to take Elizabeth to some important consults at leading Children's Hospitals in the country at Boston and at San Francisco.  Her physicians at CHP have recommended consults with them due to their expertise in some of Elizabeth's areas of medical complexity.  I have been working on scheduling appointments in both locations. So far we will be seeing the following providers this summer:

Boston:

Dr. Janet Soul, Neurologist/ CVI/ White Matter Disorders in the Brain Specialist, June 17th

Dr. Andrew MacGinithe, Expert Immunologist, June 18th

San Francisco:

Dr. Elliott Sherr, Neurologist/ Corpus Callosum Deficits Expert,  June 22nd

Dr. William Good, CVI Expert/ Pediatric Ophthalmologist, June 24th

Dr. Morna Dorsey, Expert Immunologist, June 24th.

There may be additional providers added to those lists, especially as we learn more through the genetic testing. There may also be additional scanning or testing done at both locations.  Both locations have been so cooperative in helping us to coordinate multiple appointments over those dates.  We are looking forward to taking Elizabeth to these experts to gain their insight into her many issues.  We cannot thank you all enough for your love, support and prayers for making this all possible.  We truly, truly appreciate it. 

More Movement and Improvement:

Elizabeth received her Gait Trainer this fall.  We had an evaluation at the Children's Institute to get a gait trainer for Elizabeth to provide her necessary assistance with being upright and walking.  Her hypotonia and other neurological issues prohibit her from standing or walking on her own.  The gait trainer is like a scientific baby walker that gives Elizabeth support to gives her the ability to try to walk.  The insurance company did pay for the gait trainer, which was great.  It is clearly a piece of adaptive equipment that increases her quality of life and promotes her independence.  She does take steps in her gait trainer, has walked across our dining room floor in it, and she sometimes just likes to stand in it.  Jason and I love to see her face when she is in her gait trainer.  It is an incredible feeling to see how proud she is that she is standing and walking.  I've included some pictures below so you could see her in her gait trainer. 







Elizabeth has also been attempting to crawl on more occasions, which is great. The Periactin, which is the medication that the GI doctor gave her to stimulate and increase her appetite, seems to be working.  It definitely makes her sleepy, which is good for her.  She has never been a good sleeper, but has mostly been sleeping all night since we started the medicine.  Elizabeth also seems to have an increased appetite on most days.  There are some days when she has very little interest in eating, but on days when she is hungry she eats or wants to eat a healthy amount of food.  We are glad to be seeing this improvement in her appetite.

We are continuing to give her Pediasure to help her gain weight and to replace milk.  Elizabeth coughs and chokes while eating less with the Pediasure, because it is thicker than milk.  She cannot have any other liquids at this time, because until we have a second swallow study in March other liquids are still considered unsafe and an aspiration risk.  She also still only uses a bottle with a medium flow nipple.  Anything that flows faster, especially sippy cups, are a major aspiration risk for her.  So, the only thing she drinks from is a bottle, because nothing else is safe. The Pedisure does a good job of keeping her full, which is good.  We are seeing small gains in weight, but the doctor's and nutritionists would like to see bigger gains.  Right now, she is averaging around 3 ounces of gain per week.  It is better than 3 ounces of loss, but it would be even better if it were a greater gain than 3 ounces.  So, we have started adding a calorie supplement called "Duo-cal" to her foods.  This gives her approximately an extra 250 calories per day.  We can mix it into her food and liquid, and she seems to tolerate it well. Here is a picture of our princess in her princess slippers eating her favorite snack: Gerber Puffs.

We were also finally able to get her Pediasure covered by her Medical Assistance, which is great.  It is about $40/ case, and we go through about a case per week.  This is very helpful to us financially.  The insurance is covering it, because the Pediasure is considered to be medically necessary to help with her poor and slow weight gain and growth. There is a possibility that if the Duo-cal supplement helps with weight gain that we may be able to get it covered as well, which would help because it is also expensive. However, no matter how expensive, we will continue to give her whatever necessary and recommended to help her weight gain.  We want to avoid the G-Tube if at all possible, although some days it feels like a losing battle.

Thank you for reading, following, and for your thoughts and prayers.  I leave you with a few other pictures of sweet Elizabeth.  Enjoy your day!