Diagnosing Joy: 25

A month after our courtroom victory, there had been no appeal. We seemed to be in the clear. It felt good to breathe. That stress had been removed. But it was settling in that Moriah had some big challenges. Her physical therapy was progressing well. She was doing exercises to strengthen her muscles. And she had gotten inserts for her shoes to help her keep her balance and was starting to walk. She was so happy to be on the move. Her feeding therapy, even as slow as it was, was helping her keep food down despite bouts of gagging. She was tolerating more foods and textures and the therapists were excellent about trying new tools and techniques. In addition, she had started speech therapy, with the understanding that it may be a long time before she uses words. The whole family was helping. The boys have been so proud to help her with her therapy at home. And her day caregivers were more than happy to help and tell me any progress throughout the day.

And then her genetic tests came back-by email-“abnormal”. There was a detailed explanation of her results in the report.  We had answers.

This is a blessing in itself.  I have met many families since the diagnosis that do not have the privilege of a diagnosis, but struggle with long term delays and many unanswered questions.  So we are very thankful to have some knowledge about the cause of her delays. However, the diagnosis is complex, even for this scientist. And rare. And has no pretty name or awareness events or walk for a cure. But there are a lot of positives despite this. She will live. She does not have a terminal diagnosis. And I know God has big plans for Moriah Joy (please know that I do not mean God does not have plans for those lives that leave this world before we are ready; I merely claim the victory of eternal life for us through Jesus and the promises God has for us and I claim every blessing over my family).

Moriah is missing 46 genes on one of her X chromosomes. This is called a deletion. Actually her literal diagnosis is “x chromosome microdeletion,” although 46 genes seems pretty not-micro to me. Most rare childhood disorders or diseases are caused by 1 gene mutation. 46 seems so daunting.

Here is some background. Girls have 2 x chromosomes and boys have 1x and 1Y. So the next test our geneticist wanted to do measured how much of her “good x” was present in her blood. He called me from vacationing to order those next tests. Turns out she is about 50:50. This means half of her cells make the needed proteins and half of her cells do not. Of the 46 proteins she could not make in those cells, 5 of them are associated with known syndromes and disorders, with mild to severe symptoms.  For example, one of her missing proteins FMR1, Fragile X Mental Retardation, is what is lacking in those with Fragile X Syndrome. While she does not have that diagnosis because she has half of that protein, she has several symptom similarities.  She is missing more than that one protein. It may be years before we know how some of these deleted genes affect Moriah. And in the meantime I am reading as much as I can.

In my reading, I have found that there are other kids that have deletions like Moriah’s, but maybe different genes are missing or a chunk of the same region but not exactly the same. I have been able to find journal publications on children and adults that have very similar deletions so I can gain an understanding to some degree. A publication in 2014 states that only seven girls plus the three girls in that research article had been reported. Again, some deletions included in the study are smaller than Moriah’s deletion and sometimes the X ratio is different for each child. In fact none of the 10 reported girls have the exact same genes missing but have the most similarity. Moriah may be the only girl with that exact deletion. Most studies note any physical anomalies and developmental delays that give me a place to start (mostly comparing and giving me a level of expectation. For instance, most of the girls did not have words until 4 or 5 years old and were delayed to sit, crawl and walk due to muscle weakness.) Others similarly reported gagging, vomitting and reflux among other feeding issues.  These things are helpful even though I understand there are differences.

Definitely the most information available is on the FMR1 gene but I am looking into every single gene. I have been reading anything I can get my hands on. Most things I find with my experience in scientific research. I am sure it is a blessing but some days I read some difficult material and am not sure I can handle it as a mama. Many of the deleted genes are needed to regulate tumor suppressors. Without that regulation, she may be more prone to irregular cell growth (the “c” word). Several of her missing genes (and their absence) are implicated in some organ difficulties, specifically ovary failure. As a mom, I feel heartbroken over the reports of infertility and premature ovarian loss, but also know now is not the time to focus on this. And lacking another of her missing genes has been theorized (but not proven) to be responsible for brain tumors and bipolar disorder. You bet I’m going to learn more about this( but there is next to nothing on it at this time).

So I stay plugged into her developmental delays. And I have joined about every online community I can and continue to advocate for therapy and developmental resources.

I am putting it all together right now. Four months after diagnosis, I am writing specialists and researchers for expertise and gathering as many facts as I can. There is some excitement in X chromosome research that I plan to follow and propel if I can. And there are some biological advances in understanding and possibly treating Fragile X I plan to stay on top of. In the meantime, therapy is the best support I can provide Moriah besides unconditional love and family and stability.

I am attending support groups for special needs families and learning so much about some of the commonalities. I am gaining insight into autism spectrum, sensory processing, apraxia, gastrointestinal issues, ear tube dysfunction, sleep difficulties, anxiety and other behavioral and developmental concerns we are already facing. And most days I get a healthy dose of perspective and gratitude. A lot of parents are going through some battles I just have never allowed my mind to go. But now I am awakened to so much more. I have always had a passion for mamas; I wanted to be an OBGYN or midwife for most of my life. But now I get to connect with mamas in a whole new way, praying for their unique needs and learning from the steps they have taken. I can see God’s blessings in this too. And I am in awe of how good He is.

He IS good. All the time. And I am leaning on Him for strength and wisdom and compassion to be the best mama I can be to all my children.