At the end of July, John and I noticed something peculiar about Tristan's hands. On one hand, he has 2 creases, like the rest of us. And on the other, he only has one. I remember in all of his specialist appointments at Phoenix Children's Hospital, they ALWAYS looked at his palms to see the creases in his hands. Nobody ever mentioned anything about why they did, so I didn't think much about it. Fast forward to July, and I was determined to find why he, of all people in our family, has different creases.
Side note: the more I learned about the creases in your palms, the more Tristan's limited dexterity and lack of appropriate-age pincer grasp made sense. The hand with only 1 crease doesn't allow his thumb to extent as much as the hand with 2 creases.
I digress.
Now I want to preface this by saying that I had all but given up on searching for what made Tristan special. It gets really tiring always being told that on paper, your son is fine, when clinically, he is not. We spent 4 and a half years looking for answers, but only found dead ends. It starts to mess with you mentally as a parent when nobody can tell you the "why" behind why your child can't talk, or has really low muscle tone for no apparent reason. You start to question your sanity.
Anywho, back to his palms. I started researching why people have 1 crease vs 2, and there were a lot of genetic conditions that contribute to the number of creases. Most of them were without a doubt not what Tristan has. There was one condition that Tristan marked almost all of the boxes for. The more research I did, the more sure of it I felt. I tried to keep my expectations low, because I knew the road of disappointment all too well. But I went ahead and made an appointment with his geneticist anyway because I just *knew* this had to be it.
By some miracle, she had a cancellation for the following week, the beginning of August. I knew this had to mean something huge because it usually takes at least 3 months to get in to see her. The appointment day came and I confidently went in and said that this is for sure what he has and we needed to push insurance to approve the genetic test to confirm it. To my dismay, we already had the test done 2 years ago and what do you know, it came back normal. I felt absolutely defeated and like all my somewhat-healed wounds of "rejection" were torn wide open again. Internally, I decided that this was for sure the end of the road for looking for answers. I couldn't handle going through this all over again.
She did say there was one final, end-all-be-all test that we could do. Whole Exome Sequencing. We tried getting it approved from insurance 2 years ago, but they denied it, claiming that it was too expensive and it wouldn't change our plan of care, so what's the use? But lately they have had some good success with insurance approving it. This test looks at ALL of your genes. There are roughly 20,000 genes (that we know of), and we only know what roughly 6,000 of them do (a few years ago, they only knew what 5,000 of them did). But she was confident that we would find something to give us a better direction. The test was a simple saliva swab and would take about 3 months to get the results.
Walking through Goodwill on September 10th, trying to pass some time before afternoon school pickup, Phoenix Children's Hospital called. They only call for 2 reasons; to remind me of an upcoming appointment, or to tell me that Tristan's test results were normal. I was starting to panic because I couldn't remember having an upcoming appointment, and it hadn't been 3 months yet to get anything good back from his test. When she said that she was with the genetics office to talk about some test results, my heart dropped to my stomach.
"We did find a likely answer for him."
Luckily, I record all my phone calls, because I had to go back and listen to it again because I don't remember a lot of what she said. I spaced out a bit because THEY FINALLY FOUND SOMETHING. What was this world I was living in? I didn't know that such a place existed, where someone could shed some light on Tristan. Every diagnosis we have been given, aside from Apraxia of Speech, has been a temporary diagnosis, something to really help Tristan receive the services he needs rather than giving us a definitive answer. She went on to explain that there was a mutation found in the Med13L gene. This was a new change in him; it wasn't something that he inherited.
According to Genetics Home Reference, "This gene provides instructions for making a protein that helps regulate gene activity; it is thought to play an essential role in development both before and after birth. The MED13L gene mutations that cause this condition alter the function of the MED13L protein or reduce the amount of protein present, impairing normal control of gene activity."
After 4 and a half years of searching and questioning and second guessing myself, we finally had a cause for why Tristan was, well, Tristan. The next few days I spent a lot of time researching what little information was available for Med13L. Unfortunately, not a whole lot is known. This mutation was only discovered within the last 5-10 years, so they don't know the long term effects that come with this condition. It is on the more rare side, only happening 1.6 times in every 100,000 births. We are truly blessed because a lot of kids who have this also suffer from epilepsy or heart defects, which Tristan does not have either. All of the kids that have been studied have developmental and intellectual delay, and most develop no language, while a few develop a small number of words. There is no cure or treatment, just therapies to help him continue developing.
At the end of the day, the insurance company was right. This doesn't change our plan of care whatsoever. We will continue to go to 6 therapies a week and see certain specialists a little less. But I cannot describe the weight that was lifted from our shoulders when we finally learned why this was happening. It has been a relief, now, to recognize and understand that Tristan might never speak. And it's not because of his hearing (again, I can't tell you how many times we have met with the audiologist to test his hearing), or because for a second I thought he might have autism. I hate saying this out loud, but this almost made me feel more "accepting" of Tristan's condition, because we can now definitively say that something changed in his body, and this was no longer a question of "well maybe he just doesn't want to talk" (which I have had people say...)
I am truly blessed to be Tristan's mom. As hard as life is between therapies and doctors appointments and trying to decipher what he wants, I truly can't imagine my life being anything better than what it is with him in it.
