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.
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| Elizabeth on the first day of school ! |
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| 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.
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.
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.
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.
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.
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.
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| Celtan pointing at Elizabeth's star. |
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.
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| All smiles at a pit stop. |
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| Our "SON" family |
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| 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.
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| 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.
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| 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.
