Several months ago, we were in a really rough space with Matt. We were seeing so many signs of regression in his speech, potty training, behaviors, and other areas. It was hard not to feel depressed and it was overwhelming to deal with on the daily. We sought the help of a developmental pediatrician (getting in to see her was a miracle in and of itself--I think the fact that I cried on the phone with her office manager may have helped us bypass the extensive waiting list and sneak past rules related to Matt's age).
During one of our meetings with her, she encouraged us to pursue genetic testing. We had done some in the past, but it had not yielded much. I realized that I didn't really understand the point of it, and this incredible woman, who is so good and explaining things, walked me through the reasons. She suggested that the research has improved dramatically since we last did testing and the chances of finding something are much higher than they were before. The geneticist from years ago said doing further testing would be like searching for a needle in a haystack--and even if we did find a variation, the chances of that variation actually explaining anything were even slimmer. However, she said that any results might help us better understand Matt's prognosis and guide his current therapies and treatments.
We had to fight for awhile to get a visit to the geneticist approved. We met with him and he encouraged us to move forward with a very specific type of test that went quite a bit deeper than the one we had done previously. It was a very expensive test and the battle with insurance began at that point. He noted several visible things that he said could be related to a genetic variation or specific, known disorders and that helped us make the argument with insurance that this might yield something. He also talked about the fact that learning more about Matt's diagnosis would help guide therapeutic planning for his future and rule out the need for additional tests and therapies (which means less $ from the insurance companies). Regardless, they still denied this test over and over.
February 1st, we switched insurance providers so the genetics team at OHSU got back to work, trying to get this test approved. About 2 months ago, they called me with that approval and a genetic counselor got on the phone with me to talk about possibilities from this test. I was so impressed by the amount of information these tests have the potential to yield and realized that there are some pretty dramatic psychological impacts of having that kind of information about Matt or either of us (Todd or I). In the process of trying to find things out about him, we also had the potential to learn things about ourselves. We decided that we wanted to know everything we possibly could from the testing and signed our life away accordingly.
The test was a nose-swab for Matt and saliva for Todd and I. We sent it in and within just a couple of weeks had results. I got the call from them to go over those results and she started the conversation with "we have a diagnosis for Matt!" I was shocked. I literally had zero expectations and almost no hope!
Matt has a mutation on the Shank 3 chromosome which causes something called Phelan-MeDermid Syndrome (PMS for short). A syndrome is basically a collection of symptoms and those that go along with this describe Matt to a tea. Profound intellectual disability, moderate to severe speech delay, autism, epilepsy, GI issues (both poop issues and reflux--explains Matt's burping), funky toes (his toes are a bit weird), fluctuation in skills (what I had called regression might just be fluctuation), psychiatric issues (anxiety, ADHD, bi-polar disorder, OCD, etc.), behavioral challenges (impulsivity, aggression), and so many other things.
Why do we even care? This changes nothing... FALSE. It changes the lens...the paradigm...the window through which we are looking at our son. Having this type of information has done two dramatic things for Todd and I. First, we know it is not our fault. You can't help but question whether there is something you could have or should have done differently when your child has a disability like Matt. Each of us had our own questions--Todd wondered if it had to do with a vaccine he had given him against swine flu when I was super sick in the basement with it. I wondered if I had fried his little egg by going in the hot tub before I knew I was prego. Second, we can stop searching for the next thing to help "cure" him. His whole life, people have suggested treatments, both medicinal and natural, to help treat autism, from diets, to stem cells, to brain mapping to thermal pods, to vitamins, to therapies...and the list literally goes on and on. I cannot tell you the guilt associated with the things you aren't doing when the list is so long and it is so dang exhausting, time consuming and often financially burdensome to understand and try them. There isn't something we are going to fix...and while to some that might feel like a reason to lose hope, to me it feels like a reason to embrace it. We now know what to hope for.
The other thing that is really hard is planning for an unknown future. Being able to connect with other families who have kids with PMS will help us better understand what to expect for Matt's future. I have always looked at kinds with autism and wondered if that was what Matt will be like when he is older. Candidly, I have never resonated with the autism diagnosis as the main explanation for Matt. Some of the things that he has dealt with do not fall under that umbrella at all. Getting a new umbrella that feels more comprehensive and true to Matt is a beautiful blessing.
So what now? The is a foundation called PMSF.org and we can find information and research. We can connect with other families. We are going to need to do some additional testing because often this comes kidney issues and we want to rule that out. We are waiting for our appointment with the geneticist to talk next steps...and I'm sure there will be some. But now it doesn't feel like we are barking up a tree that will likely be unproductive. Instead, we have a map of the forest and can pick which trees we are going to climb based on science and research and experience.
This feels like a miracle to us! We are SO grateful!
