My beautiful blessing is eight years old and for the largest majority of those years we have been looking for an answer. At around 18 months old, we were diagnosed with Hereditary Orotic Aciduria - which was even more rare, less than 20 diagnosed cases, ever (https://rarediseases.info.nih.gov/gard/5429/hereditary-orotic-aciduria/resources/1) . It explained many of issues, but not why he didn't react the same way as others to the medication and he had a few other issues that didn't fit: Hypotonia (low muscle tone), Cyclical Nutrapenia (low white blood cells), Hyperflexible joints.
Initially, when whole exome sequencing (https://en.wikipedia.org/wiki/Exome_sequencing) became available, it was very expensive and our geneticist at the time recommended waiting. It was likely that even if we got an answer, there wasn't going to be a treatment and it only served to satisfy our own curiosities. I was totally ok with that answer at the time. Plus, they were only doing the test for really sick kids at that time and we were never that sick.
In 2013 the company that had been making uridine (the medication to treat Hereditary Orotic Aciduria)decided they weren't going to make it any more. So, we stopped taking it for a while to see if we needed to figure out to use a nutritional supplement or how to proceed. We hadn't been off it very long, when a new study came up with a different drug company.
Our geneticist, Dr. Morgan decided to leave Vanderbilt to pursue research and no one one wanted to take on all the paperwork to get us into the study. However, Dr. Vockley at Children's Hospital at UPMC in Pittsburgh had a patient that was going to be participating in the study and was willing to take us on. After spending a lot of time with him over the course of a 2 year study, I saw a new perspective: what if there was something else we needed to be looking for - like cancer or heart defects?
So, back with our new geneticist at Vanderbilt, Dr. Hamid - we agreed to proceed with the exome sequence and on December 21, 2015 - Carter's 8th birthday - we had blood drawn and started waiting. A whole exome sequence is not a quick process.
In April the genetic counselor called and said she had the results and although she wanted to look at them more closely, it looked like we had a diagnosis. She was hesitant to give me the name, because Dr. Google can be very scary. Every looked up your symptoms online? You were most certainly dying. But with a little probing and a reassurance that I was able to be level headed, she shared: Cohen Syndrome. She also referred me here, as I will you:
http://cohen-syndrome.org/
https://ghr.nlm.nih.gov/condition/cohen-syndrome
http://rarediseases.org/rare-diseases/cohen-syndrome/
As I looked at the pictures and read the descriptions, this was my Carter. 100%. The part that really got me were the references to a happy disposition and friendliness. This was my Carter and this was our diagnosis. It's not all flowers and happiness though. There are some real concerns around vision issues and white blood cells. And, it was a confirmation of what I had pretty much already know: Carter was going to need support for the remainder of his life in some capacity.
It was a lot to swallow. Honestly, I am still processing it all and we don't have all the answers yet, but we are working through it. I have learned a lot since then, and I want to share that with you, but that will be for another post.
