Back in October we were with Ila in Cincinnati after her surgery when we received a phone call from the genetic counselor at Riley. Ila’s results had come back from her whole exome testing much earlier than expected. We have waited to post an official update until we had a meeting with the geneticist and confirmed a few things. We had that meeting today and are finally ready to share her test results.
Ila’s test came back positive. We were actually relieved by this because it could have come back negative or inconclusive and then we would continue to be caught in limbo with no answers. Her test came back positive for a misspelling of gene DDX3X, a deletion of an amino acid in a protein to be specific. They call it DDX3X syndrome and it was only discovered as recently as 2014. Since it was only just recently discovered, we have been told by our neurologist that Ila is one of the first 300 people diagnosed with this condition. There are many different mutations that can occur on this gene, Ila’s mutation is very novel and has only been seen in one other person before. DDX3X syndrome comes with a variety of symptoms including intellectual delays, motor delays, movement disorders, low tone, problems developing speech, abnormalities in MRI scans, small head size, behavioral concerns, epilepsy, hearing loss, vision problems, and a few other things. We don't see all of these symptoms in Ila, her speech is developing well and based on how attentive and alert she is we are assuming her cognitive effects will be mild. Her head size is normal, hearing and vision screenings both checked out, and she had an EEG a couple of weeks ago that came back clear. Right now the condition affects her physically the most and we will continue to work hard with her in PT once she is cleared by her surgeon.
If you recall, we were told by a neurologist at Riley that her condition was most likely progressive and fatal. We are shouting our praises to God because this diagnosis is not progressive and not fatal. The geneticist said that there are a very small number of children who show white matter loss with her same condition and that is most likely what we are seeing in her MRI scans. Ila will continue to have regular hearing and vision checks along with regular EEGs and MRIs to ensure there are no new developments over time. Our neurologist has told us that as long as we continue to do what we are doing and to provide Ila with all of the resources we can, that there is no ceiling to what she may be able to do someday.
To some people this diagnosis may seem bleak, but to us this is fantastic news. Our daughter was handed a death sentence by a neurologist at Riley. We spent three months wondering if every little hurdle was the beginning of her decline, three months of happiness being shrouded in confusion and fear. This is our answered prayer. Austin and I were talking the other day about how faithful God has been through everything. Our prayer when we first heard of her condition was "God please don't take our baby". God heard us. I asked God to fix her. God heard us and sent us a surgeon that may not have been able to heal her brain, but healed her spine and took away her pain. We asked God that she would sit up by Christmas. God heard us and even though she may not be able to sit up all on her own, she has a brace that allows her to be able to sit on my lap to open her Christmas presents. Thank you for praying for our girl, your prayers were powerful. We have a good, good father.
We are so thankful for all the support we have received spiritually and financially during the course of this time. We literally could not have done half of what we have done for Ila without your generosity. We have been able to travel for appointments without the fear of finances looming, I have been able to stay home with Ila to continue working with her at home as much as possible, and we have been able to sell my car and buy a minivan that has been one of the biggest blessings when we were three hours from home and living out of our car and a 10x12 hospital room and continues to be a blessing with every trip to Cincinnati. I literally sit back and think of all of the love, prayer, and blessings we have been surrounded with through this time and it brings me to tears to know that so many people care so much for our little family. Thank you all from the bottom of my heart. Please know I am trying to get thank you cards out to everyone but there are literally so many people to thank that it has gotten a bit overwhelming. We will continue to work on those so please don't think we have forgotten about you!
