Falling Into Place

Falling Into Place

I would like to think that I could post updates on this blog for Elizabeth more regularly than every seven months, but it doesn't seem like that has been the case lately. I can say that we have been very busy here in our household with different things. We bought a house that needed quite a bit of remodeling in November, and we have been moving in and remodeling since then. Celtan started full day Kindergarten. Jason is working two jobs to help us keep afloat financially. I am now staying at home full time to manage the "Fort" and to manage all things "Team Elizabeth Jeanne." Elizabeth is now at school at the Western PA School for Blind Children in Oakland (Pittsburgh) and attends preschool there five days a week. Elizabeth and Celtan both love school. On top of our endless list of appointments, I pick Elizabeth up three days a week from school and take her to outpatient therapy. She gets therapy as part of her IEP at school, but she also needs the extra practice, especially in these early and critical years of development. Celtan started indoor soccer this week. It is essentially a revolving door in this home, and while we are crazy busy, we are happy to report to Elizabeth's followers that many things are falling into place.

Elizabeth on the first day of school !

Celtan on the first day of school!

 In previous blog posts from last year, I mentioned that after Elizabeth's close calls last fall and her repeated serious string of medical issues, the genetics team at CHP asked Baylor to take another look at her whole exome sequencing. This is a special and very detailed type of genetic testing that looks at the genetic code of an individual to check for deletions and duplication in their DNA that could be responsible to disease or developmental issues. We had already learned from the original whole exome sequencing results in the summer of 2015 that Elizabeth's DNA contained a few different genetic mutations that explained some of her symptoms. One of her mutations is responsible for her widespread immune deficiency; the RAD 50 gene. Another mutation, AGRN, that was found in Elizabeth's DNA is the cause of the neuromuscular disease, Congenital Myasthenic Syndrome (CMS), which explained many of her muscle control/ weakness and pulmonary issues. Elizabeth still had many diagnoses in other body systems, medical, and developmental issues that were not accounted for by the results of the whole exome sequencing at that time, but as science and medicine, and particularly genetics, are always growing and expanding, we held onto hope that we would get our complete answer one day. 

 Almost a year later in the Spring of 2016, we did get our answer from the genetics team. After her genetics team asked Baylor to reopen her whole exome sequencing in the fall of 2015, and they sent many new symptoms that were not sent with the original samples, Baylor told our genetics team at Pittsburgh that Elizabeth met the profile of a few other patients that were just identified as having a previously unknown genetic mutation, and they decided to check her DNA for his mutation. The mutation they were looking for was a mutation of the SON gene, and they soon discovered that her copy of the gene was also mutated. Baylor asked if we would be wiling to allow them access to Elizabeth's medical records to include her in the study and subsequent article that they would be publishing on the SON mutation. This article was one of the first articles published on this specific genetic mutation in medical literature, and we of course agreed to allow them to include her in the study. 

We met with our genetics team, and we were completely blown away by the similarities in Elizabeth's case and the other cases identified by Baylor who also had the SON mutation. The prenatal, birth, developmental, and medical histories of these other children were astoundingly similar, and we for the first time in almost three years felt as if we had an answer. The discovery of the SON mutation in Elizabeth explained many of her medical and developmental issues. We quickly asked our genetics team if there were other families that would want to get into contact with each other, and Baylor quickly gave us the names of two other families in TX. The other two mothers and I were in contact with each other within the next 24 hours, and we instantly formed incredible bonds. As we shared our stories over the phone, it was truly unbelievable, because for the first time ever I had found others who had the same stories about their daughters. Our stories almost 100% lined up on every detail from our pregnancies through their infant years, and as their girls are older than Elizabeth that gave me not only a support system that truly understood, but it gave me hope. Sure, our girls have differences about them and their medical and developmental histories, but they are eerily similar. In fact, one of the little girls (Kylie) and Elizabeth look like twins. We decided that we wanted to meet in person, and so we made plans to head to TX to meet them over the summer. One of the mother's from TX, my friend Kim, established a Facebook group for our "SON-shines," and our group has  recently been given the names of the other families in the studies by Alabama and Baylor regarding the SON mutation, as well as some other newly identified cases. I am really excited to learn about their stories, to welcome them as part of our "SON" family, and we are trying to plan a meeting this summer for any of the families that can make it.

We had an incredibly busy summer. Elizabeth was granted a Make a Wish, and we spent 7 magical days at Give Kids the World and at the Disney Parks. We also made stops at Universal Studios and Sea World during our stay. We had the best time, and while we had a great time at all of the parks, the best part of the trip was Give Kids the World. It is truly an amazing place. Elizabeth was given a star in the great hall. The kids rode the train, carousel, and other amusement park rides. We played mini golf and the kids went horseback riding. We went swimming. You could have ice cream all day long, even for breakfast. There were characters for the kids to meet each morning, and there was a party for the kids with a different theme each night. The mayor, a giant bunny named Mayor Clayton, even came to tuck the kids into bed one night. It was truly magical.

Celtan pointing at Elizabeth's star. 

Our visits to the Disney World Parks were also incredible. When you are at Disney with Make A Wish, to say that you get the royal treatment is a complete understatement. The kids loved seeing all of their favorite characters. Elizabeth's reactions to Elsa and Anna were priceless. She had breakfast with the princesses in Epcot. Celtan had a full blown Pirate makeover in the Magic Kingdom. We even met a family friend, Michelle, who was our tour guide for the day at Magic Kingdom. At Hollywood Studios, we got to sit in the front row for the Frozen show. Celtan got to meet his favorite Star Wars characters, and he witnessed a Storm Trooper parade up close. The highlight for Celtan at Hollywood Studios was being trained as a Jedi and learning to use "The Force." We also had an incredibly magical experience at Hollywood Studios when we met Mickey Mouse, and as we were exiting the park for the final time that night, the Star Wars themed fireworks were booming all around us. I will never forget the cherished memories made on this trip, and I will hold them dear to me for all of my days. I will always especially cherish Elizabeth's reaction when she saw Mickey Mouse, and Celtan's reaction to the Star Wars fireworks, as he declared that this was the "best day ever."

A few weeks after we returned home from Disney, we set out on a family trip across the U.S. We drove from PA to TX. There we finally got to meet our fellow "SON gene" families. The Jarrells graciously welcomed us into their home as their guests. We stayed with them and enjoyed Houston for a few days, then we headed off to San Antonio to meet the third family. All three of our families spent the day at Morgan's Wonderland, which is a special needs amusement park, and it was amazing. There were so many things for the kids to do there. Then, we all went to the River Walk in San Antonio, and we had dinner and walked around for a bit. We hit the road from San Antonio, and Jason and I took turns driving through the night. We made it to Tombstone, AZ by morning, and we stopped there. I have visited Tombstone before, and I loved it. I knew Jason would love it as well as a history teacher, and Celtan loved all of the cowboy stuff. We left Tombstone, and we headed to Williams, AZ where we met Elizabeth's runner through the IR4 program, Robyn,  and her family. We shared a cabin with them, and the next day we went to see the Grand Canyon. The Grand Canyon was spectacular as always, and Celtan earned his Junior Park Ranger badge. We left AZ, and we drove for several hours and stopped in Amarillo, TX. We stayed the night there, and then we hit the road the next morning. We stopped in Oklahoma City, and we ate lunch at Cattlemen's in the Stockyard. When we hit the road again, we drove to Springfield, MO and spent the night there. The next morning we started the final leg of our trip, and we stopped in St. Louis for some famous BBQ and to see the famed Children's Museum. We stopped in Indianapolis that night for some dinner, and then we drove the rest of the way home. It was a long trip, but it was so much fun. We spent countless hours in the car together, and we logged major miles, but we saw some amazing things and enjoyed the time together. We are looking forward to doing it again.

All smiles at a pit stop.

Our "SON" family

Jason and I on the corner in Winslow, AZ.

Jason had shoulder surgery shortly after our return home. He has an old football injury, no joke, which had done some damage to his shoulder, and it was time to have that taken care of. We were in the midst of selling our house, so as Jason was recovering, we were packing and moving in temporarily with my parents. Then, in no time it was time for school to start back up. Celtan started Kindergarten, and I have never seen a child so excited to go to school. Elizabeth started back up at the Western PA School for Blind Children. For several weeks, I cried all day long or most of the day, because I missed them. It was a terrible transition for me. We are all adjusted to our new all day school routines. Both Celtan and Elizabeth love school, and we are very proud of their accomplishments.

We have been in and out of the hospital with Elizabeth a few times this fall. She has been in for feeding tube issues. She also has been inpatient for respiratory issues related to her chronic upper respiratory infections that started in early October. Elizabeth was also inpatient for a 3 day EEG, which resulted in our learning that she has a seizure disorder. While it was obviously not the news we were hoping for, it was a relief to finally have seizures confirmed, as we had been suspecting them for some time. Overall, we have spent much less time in the hospital this fall/ winter than the previous year.

Elizabeth has several doctors appointments each month. My last count was that we are established patients with 21 different divisions. We currently see 15 of these divisions reguarly, meaning anywhere from monthly to every three or six months. The other departments we see "as needed" or sometimes just once a year. We also see her pediatrician as needed and for yearly check ups. Elizabeth also has outpatient therapy for PT/ OT/ Speech three days a week, and I pick her up from school on those days and take her to therapy. So, we are at Children's a lot between weekly therapy and her many doctors appointments. I am grateful that I am home, and that I can focus on managing all of the departments and therapies and other things that pop up for Elizabeth. It costs us a lot of money for gas and parking each week, especially when unexpected things happen that require extra trips to Pittsburgh. Many weeks, we are counting change to make sure we have enough for gas and parking until the next payday. Jason works two jobs to try and keep us above water, so to speak, but the life of raising a child with special needs who has a rare and complex set of diseases is very expensive. In addition to that, we also have our sweet, amazing, son Celtan who also has things that he is involved in. It is tough to balance it all, but Jason and I are a good team. We are grateful that my family is so helpful to us. My mom goes to appointments with me when she can and always offers to drive. My grandma often will watch Celtan the few days a week that I need help between me getting home from Pittsburgh and Jason leaving for work. We are surrounded by a community that has been incredibly supportive of Elizabeth and our family, and we are grateful for all of it.

I know, because I've heard about it, that some people think that we are crazy sending our three year old to a preschool that is more than an hour away from our home five days a week. I also know that some people think that we are equally as nuts for having her in additional outpatient therapies, especially when she gets them at school. Here's the thing: they can go on thinking that. We have seen so much improvement in Elizabeth since she started going to school at the Western PA School for Blind Children. They are amazing, and it has clearly shown through in the progress Elizabeth is making. Sure, she gets OT/ PT/ Speech on top of Vision Therapy at school, but does she need the extra practice? Yes. Is this a critical period of development for her that will set the stage for whatever future years she has ahead of her? Yes. We would do anything in our power to allow Celtan and Elizabeth to be the best that they can be, and right now this is the best thing for Elizabeth. They are long days for her, and I won't deny that. However, the progress that she has made since last year at this time speaks for itself. So, we are just going to keep up with what we are doing, because this is what she needs, and it is what is best for her. Whatever is best, we will always do, just as any parent would do for their child. No matter how far we have to travel...No matter how many weeks I have to count change to put gas in my van...No matter what, we will do what it takes to give her every advantage. The blessings outweigh the burdens, always.

Elizabeth is thriving and experiencing many areas of growth, and her doctors are overall very pleased. We enrolled Elizabeth in a clinical trial at CHP for a new type of blenderized diet called Nourish, and we saw remarkable results. After being started on this new diet, she had many positive changes in bowel movements, growth, and absorption. Her routine kidney, liver, metabolic, and normal blood counts have looked amazing, particularly since she has started being fed with Nourish. We were able to get the insurance to cover the Nourish since we were able to demonstrate the many benefits we saw during the clinical trial. Elizabeth has also been more alert, less fussy, had fewer hypoglycemic episodes, and has not required blood transfusions or iron infusions since beginning the Nourish.

While we have found a type of formula, finally, that is perfect for Elizabeth. She has still had some issues related to her failure to thrive. She has maintained a stable weight, but she has not demonstrated growth in terms of weight in several months. She is growing taller, and she is actually above average in height for her age. The Reglan (a medication that she takes for GI motility and to stimulate hunger) continues to help her have an appetite, and she is eating small amounts by mouth. We are hoping to get her to eat enough by mouth that we can wean her from some of her g-tube feedings during the day, but it is a slow process. We continue to move according to her cues and to her pace, and we remain hopeful. Currently, she gets 100% of her nutrition via g-tube feeds, and so anything that she eats or drinks by mouth is bonus. The fact that the little she does eat and drink by mouth is "extra" and is not helping her to gain weight is frustrating, but again we will continue to work with her and do what is best for her. We are just thankful that she does not need a central line anymore, and that she is able to be fed and sustained on g-tube and oral feedings.

Elizabeth's neuromuscular disease, Congenital Myasthenia, is showing greater impact in her eyes. We have known for sometime that she seems to be losing her vision, but it is hard for us or the doctors to determine how much vision she truly has, especially since she is non verbal. The results of her vision testing are basically subject to the mood that she is in at the given time of the testing and how well she participates and cooperates. We have noticed increased muscle weakness in her eyes. Elizabeth was discovered to have nystagmus, amblyopia, intermittent exotropia, and blue sclera in her eyes as an infant. In the past several months, we have noticed a worsening of the up and down muscle function in her eye, as well. In fact, she seems to have very little control some days with the left eye, and it can roll so far upwards that you only see the whites of her eyes. Dr. Nischal observed this in his last exam, and he wanted us to continue patching the opposite eye to increase strength in the weaker eye, but also said that if the up and down motion of the eye was not improving or well controlled by her next appointment, that he would recommend surgery to help correct the eye muscle causing those movements. Elizabeth sees Dr. Nischal next week, and the up and down eye motion is continuing, so we are expecting that she will need to have this surgically corrected. In the meantime, the progressive deterioration of muscle weakness is making it actually harder for her to see when she wears her glasses, so if you've noticed that she's not wearing her glasses, that is why. After surgery, she will likely continue to wear glasses again.

Elizabeth also has Cortical Visual Impairment (CVI). This is caused by congenital damage in her brain that has caused the inability of her brain to interpret visual input taken in by her eyes. I am happy to report that since starting school in May, Elizabeth has improved 2 points on the CVI range. This is a huge accomplishment in such a short period of time. This is a testament to her responsiveness at school, as well as the efforts of the amazing staff.

As I mentioned earlier in this post, Elizabeth was diagnosed with epilepsy, or a seizure disorder, in October 2016. We have long suspected that Elizabeth has had seizures, and it is common in individuals that have been identified like Elizabeth with the SON mutation. Elizabeth's seizures are mostly partial seizures, meaning that she will flop or slump to one side, usually her left. She will become very still for a few seconds, and then she recovers and will sit up. After these seizures, she is very tired and often very cranky. Elizabeth was also having repeated episodes where she would hold her head and repetitively scream at the top of her lungs as if she was having excruciating head pain. After the extended EEG confirmed seizure activity, her neurologist recommended and we decided to begin seizure medicines. So far, she has had a great response to the seizure medication,and overall she is a much happier little girl. She does not have the screaming episodes, and we also have not seen any of the partial seizures since starting the medication.

Elizabeth's team of therapists, both outpatient and school-based, are incredible. Her teacher at school, Ms. Allison, is amazing, and together they all have helped Elizabeth to make tremendous strides. Her PT at school was able to help us get a medical "big girl bed" for Elizabeth, so she no longer has to sleep in a crib. It is a deluxe model, and it has a pink polka dot skirt, and she loves the extra room. We can also now cuddle in bed with her on bad nights, which is a blessing to be able to have the space to do so. Elizabeth's outpatient OT was able to get a Theratog suit for us to trial, and we saw instant positive results when Elizabeth first put the suit on. A Theratog suit provides light compression to help the patient become more aware of movements and body location. She was able to get a Theratog suit for Elizabeth covered by the insurance, which is a very rare thing. Elizabeth's sitting, walking, and attention have all improved since she started wearing the Theratog suit. Also, Elizabeth's Speech Therapist and OTs at school and in outpatient therapy are jointly working on her feeding and helping her to self feed. We are making progress there as well. Her OTs at school and outpatient are working on sensory integration issues, which have helped us to see less of the biting and other self injury behaviors that Elizabeth was exhibiting. Elizabeth's Speech Therapists at school and in outpatient are continuing to help us with speech development, as well as to help find an assistive communication device to help Elizabeth have less frustration and to be able to communicate her wants and needs to us in a more effective way. Elizabeth's outpatient PT uses the Anat Baniel Method of Neuromovement, and we have seen a major increase in awareness and neurological function since she has started this therapy. We have an amazing team of therapists and teachers, and we look forward to Elizabeth's continued progress because of their efforts.

Elizabeth in her Theratog Suit

We also got a long awaited surprise for Team Elizabeth Jeanne in November: She started walking. We have had several doctors say that she would never walk. This was a moment three and a half years in the making, and we could not be more proud. We have been waiting, and we believed this day would come, but it was a long and hard road to get her to this point. She is not only walking around the house, up and down stairs, on and off of the van in the morning, but she is also running. Yes, running. She still has many issues with balance. She falls a lot, but she gets right back up. Elizabeth is one tough princess, and we have known that for some time. The gift of being able to see her walk, to see the look of pride on her face as she is walking toward you is simply amazing. Elizabeth is proof that miracles are real and that anything is possible. She continues to work hard every day despite her many obstacles, and she inspires us all daily.

As always, we have some things to watch for and to worry about:

The reglan that she currently takes is a nasty drug, and we are on high alert for the neurological side effects that it can cause. She has been on reglan for WAY longer than you are supposed to take that drug, but when we tried to wean her off of it briefly, she started to lose weight, was less tolerant of feedings, and had no appetite. The benefits of this drug for her are clear, but we always have hanging in our shadows the what ifs that will arise when she can no longer take the medicine due to the presence of side effects, or if the medicine stops working for her. It is scary, because we do not want to relive the fall and winter of 2015-2016, but it is never guaranteed that we won't be back in that same scary situation one day. The Intestinal Care (I-Care) Team continues to follow Elizabeth closely, and she is in very good hands.

The cold and flu season this year has been terrible for everyone, but it has especially been terrible for Elizabeth. She has had multiple upper respiratory infections requiring increased respiratory interventions, and she has also required multiple extended doses of antibiotics. Elizabeth's immune system and adrenal system cannot keep up with the repeated infections, and it takes a major toll on her. We see Immunology in a few weeks to see if they feel it is time to begin treatments for her selective immune deficiency. Endocrinology is continuing to evaluate Elizabeth for adrenal insufficiency, which could play a role in the repeated infections. While these new diagnoses and treatments may help her, it also adds to her already long and complicated list.

Elizabeth also continues to have issues with swallowing and saliva production. Nearly every meal we have to finger sweep her mouth or help to stop her from choking. Her swallowing is still very slow and uncoordinated. Elizabeth also for more than a year has been needed to have Botox injections in her salivary glands to help keep the saliva production at controlled levels for her. She has reached a point where her ENT feels that she should have a few of her salivary glands tied off. This would mean that she wouldn't need to have the Botox injections every three months, and it would also mean that she would not need to undergo general anesthesia every three months in order to have the injections. Anesthesia is a huge risk for Elizabeth for many reasons, so this would be a benefit to her in just that respect. We meet with ENT again in March, and we will further discuss a plan for the saliva and continued swallowing issues at that time.

Back to good news: We held a Team Elizabeth Jeanne Toy Drive for CHP at Christmas. I posted on her Facebook page, as well as on social media asking for donations. Our local school district and several local businesses participated in the toy drive. We were totally overwhelmed by the outpouring of support and response from the community to our toy drive. The Child Life Department at Children's was very grateful, and they were totally blown away by how Elizabeth's followers were able to generate such an incredible amount of donations. We were very humbled by the generosity of every one who donated in her honor to the toy drive. Once again, our community showed an overwhelming amount of support, and we were very grateful.

Elizabeth is still largely non-verbal. She says a few words: hi, up, mom, dada, wow. Sometimes out of the blue she will say a word like Celtan or yellow. She is mostly silent, except she sings. It is really remarkable, and her doctor's think that her ability to do this is amazing. Elizabeth can hear a song one time, and then she can accurately hum the tune back to you using perfect rhythm and very close pitch approximations. When she is angry or nervous, she has a tendency to sing very loud or fast. I often say, "Stop yelling at me in Mozart!," because she will sing her favorite Mozart song very loud and fast with angry undertones when she is upset, anxious, etc. She loves to hum "Eine Kleine Nachtmusik," Frosty the Snowman, and the song to her closing circle at preschool. She really loves music. Elizabeth loves to listen to recordings of her Aunt Becca singing opera, and she also loves classical music. Elizabeth went to the symphony on a field trip with her school recently, and her teacher sent videos of her clapping and dancing during the concert. Elizabeth also loves a variety of classic rock. A few of her favorites are When I Paint My Masterpiece by The Band, Don't Stop Me Now by Queen, and Sweet Child of Mine by Guns N' Roses. Elizabeth also loves to watch Little Einsteins and Fantasia. She definitely has an amazing connection to music.

We were also chosen as the Butler County March of Dimes Ambassador Family for 2017. Elizabeth is the face of the Butler County division of the walk this year. We were so honored to be asked to fulfill this role. The March of Dimes is a cause that is near and dear to our hearts, as it has done much of the research and provides funding for the intensive care for preemies like Elizabeth. We have attended a handful of events to help promote the walk and the March of Dimes, and earlier in the fall Elizabeth and I went to a March of Dimes regional meeting and I shared her story. It is always such an honor to be asked to share her story, because it gives us an opportunity to tell people that miracles are real and that they exist. Elizabeth is our miracle, and she has proven this time and time again. We are going to be forming a team, fundraising, and hosting a bowling event for our team for the walk. So, if you're interested in joining us, we would love to have you join us! The walk is in April, and I will be posting details on the blog and on her FB page on how to sign up, donate, and help us raise money for our team to support the March of Dimes.

Elizabeth and I after our March of Dimes presentation,

I think that pretty much catches any followers up to speed. There are things I'm leaving out for the sake of space and time, and also because there are some things we just don't always want to share. As always, if you have questions about Elizabeth, or her complex medical or special needs, please feel free to comment or send me an email. I am hoping to update more often as we continue to settle into our new house and our new routines. I also plan soon to write an updated detailed medical update for the followers who follow her story for that reason. If you want to follow Elizabeth on Facebook, her page is Team Elizabeth Jeanne. You can like her page and invite friends to do the same. I regularly post pictures and updates there, because it's less time consuming than sitting down to write a blog post.. haha. As always, thank you for the continued love, prayers, and support for our family and for our sweet Elizabeth. It truly means the world to us. We are so grateful to have Team Elizabeth Jeanne behind us, always, no matter how infrequently I get around to updating the blog. We wish you health, happiness and blessings.

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.