Sung in the words of my late Momma, let’s start at the very beginning, a very good place to start!
Isaac was born on July 19th 2012. We lived in New Mexico, I was in the Air Force and my (now) husband, Isaac’s father, worked in finance for the military. Besides a fast birth and meconium in the water, Isaac’s birth was uneventful. He was 7 lbs. 10 oz. and 21” long. Isaac started in a small, in home daycare and eventually moved to the daycare provided by the military. I exclusively breastfed Isaac and when I went back to work, I pumped (a lot) so his daycare provider could bottle feed him and I went to nurse him on my lunch break. At some point his weight gain began to slow. His pediatrician was ROUGH on me, making me believe it was somehow my fault, that I wasn’t making enough milk and was starving my son by breastfeeding him. Luckily, I had the support I needed to know that wasn’t the case. I WAS making enough milk. So I began to search for other answers. In the meantime, the Doctor had me start adding formula to his bottles with breast milk. That didn’t work and I would soon come to realize he was just going to be small. Little did I know, this was one of my first signs…
In the midst of our weight battles I began noticing some other things that were not quite right (he wasn’t rolling over well at 6 months); however I did not say anything because I thought maybe if I said something I would be to blame, or maybe if I didn’t say anything it would get better. By 8 months he was just beginning to sit on his own and by 9 months he still had not mastered it, although he was trying to scoot on his butt to get around. His day care provider called a meeting and expressed her concerns about his development. She suggested we get testing for delays and put him into early intervention. While I did listen, I just couldn’t/wouldn’t agree because I told her we would wait a little longer and see what happened.
I tried my best to believe everything was OK, but deep down I knew it wasn’t. At his 1 year well check I filled out that development form that all parents get then I expressed my concerns to his pediatrician. She agreed that he seemed to be developing a little slower than he should and suggested I call early intervention. I wondered/inquired about his weight being part of why he wasn’t hitting his milestones but she didn’t seem to think there was a correlation.
Isaac began early intervention therapy around age 1 and shortly after I began our search for answers. We saw a geneticist who did a bunch of blood tests, including a chromosomal microarray, that all came back normal. Over the years Isaac experienced: 2 EEGs (to test for seizures which only showed “abnormal/slowing of some brain waves,” but everyone seemed to gloss over that because they didn’t know what it meant) 2 MRIs Anti-seizure medication (nope, he did not have seizures) Was tested for a myriad of genetic syndromes, including Angelman Syndrome Was offered an Autism diagnosis, more than once Was screened for Autism, twice, and it was determined, both times, that he did not have it Orthotics Multiple hearing and eye tests Speech, occupational and physical therapy
We learned about a genetic test that was the most comprehensive at the time. It was called Whole Exome Sequencing, but insurance did not cover it and it would have been $15,000 to have done, it was out of the question. At some point we slowed down from seeing specialists and having tests. We didn’t seem to be getting any answers and hated putting Isaac through an endless cycle of tests. We treated his “symptoms” with therapy, a lot of it. I was constantly searching for answers. I vividly remember searching for two things in as many word combinations as I could think of: genetic condition with symptoms similar to Autism and genetic condition that affects the connections in your brain. I knew, deep in my heart that he did not have Autism. I also knew, from reading everything I could and seeing a good friend of mine recovering from a cerebellar stoke, that there was something missing in the connections in his brain. I couldn’t really put it into words well but the best I could describe is that I thought his cerebellum wasn’t talking to the rest of his brain the way it should be.
Fast-forward to 2018 and our move to Ohio: we started over with a new pediatrician and our hunt for specialists. It was quite a fight finding specialists that would see Isaac and getting referrals, however, we eventually made it to see a neurologist and then a geneticist. I asked the geneticist about Whole Exome Sequencing. He tried to convince us not to have it done since there was only a “15%” chance of finding an answer, but I was insistent (and I found out it was covered by insurance!!). At that point, there was no other place to go. If we didn’t do this test we definitely wouldn’t find any answers, so why not just try?!
SIX MONTHS after giving our DNA samples for the test, we got the phone call we had been waiting 6 YEARS for…..the test found something! It was a short and uninformative phone call, letting us know that Isaac had a mutation in his SOX5 gene which is related to something called Lamb-Shaffer syndrome. There were no other findings…..that is all I knew. But the second I hung up the phone, I cried so freaking hard. I was SO UNBELIEVABLY relieved and excited to have an answer. It was such a justification to know that everything we had fought for wasn’t for nothing!
If you have made it this far, THANK YOU! If you have any questions or are curious about our journey/Lamb-Shaffer Syndrome, please do not hesitate to reach out to me!! I will be posting more about LSS soon, so stay tuned!
Sharing this would be EXTREMELY appreciated so more people can see this story and know they are not alone in their genetic/special needs journey!!!