So if you haven’t read my previous post, you should do that first. Just click here.
I left you with my lifechanging perspective and baby Clark’s amazing progress. We were initially told it would take 6-8 weeks for the WES test results to be available. The WES test results actually took 15 weeks. I really think people thought we were lying when we said that the test results weren’t back yet, but seriously they weren’t. We started calling the geneticist’s office about 8 weeks after the appointment, and we were told that it would be 2 more weeks. Two more weeks would pass, and we would call and they would say, “One more week” or “Two more weeks” ad nauseum. 🙄 I called this past Tuesday morning, and to my surprise the nurse told me that the test results were back, that she had placed them on the physician’s desk, and that I could expect a call later that day. Yikes.
I immediately became anxious and stress-cleaned my entire house which is honestly much more productive than
stress eating raw cookie dough my usual methods. Around noon, the geneticist called. Immediately he told me that we had an answer for Clark’s issues. Cue the relief. He then explained that Clark has TMCO1 gene mutation or Cerebro-facio-thoracic Dysplasia. I know, I know. It’s a big word. And you will probably want to google it, so I’ll save you the trouble. Here. So, Basically, Clark has a syndrome that affects brain development, facial features, and thoracic/spine development. This explains his hypotonia, some facial features, spine and rib abnormalities and delayed development. This syndrome is officially classified as a mental retardation syndrome and has been associated with eye and cardiac disorders as well as severe intellectual disability and global developmental delay.
The long-term prognosis? Actually, okay as long as he is monitored for eye, cardiac, and neuro development, which he is. There are statistics listed that say things like “Half of diagnosed individuals never walk” and “A quarter of affected individuals never speak” blah, blah, blah. There are only about 15 or 16 confirmed cases worldwide. WORLDWIDE! That means that the prevalence of this disorder is <1/1,000,000. Far less than 1 in a million. More along the lines of 1 in half a billion. Now the interesting thing is that there are all these aforementioned statistics concerning patient outcomes, but they are based off these very few individuals. So, I’m going to take them with a grain a salt.
So, what did I feel when Dr. S told me the diagnosis and explained that my child would have severe intellectual disability? Honestly, I felt relieved. We have an answer, y’ all. My son does not have major medical issues, and I am so glad that his diagnosis is not life-limiting. Clark is healthy, happy, and so very loved. We have been doing everything right with specialist follow-ups and early-intervention intensive therapies. There is nothing we could have done to prevent this, and Team Clark is doing everything we can to help him reach his fullest potential. His therapists give us life and are the sweetest, most encouraging humans ever.
To the family and friends who have shown up, packed up, and traveled on this diagnostic journey with us: We love you more than words can say. Readers, you may or may not have reached your terrifying, life-defining moments yet. If you haven’t had the privilege, let me let you in on something both extremely true and extremely cliché: you will find out who your friends are. Some friends and family members will suck it up tremendously. They will. They’ll say “Oh, I’m here for you,” while remaining curiously absent. They will act disinterested because they are. It might sting, because they *should* be there, but don’t worry about them. Because your people will show up. I mean it, yo. Out of nowhere, you will be hit with genuine love bombs. These special souls will listen to you cry, let you barge into their homes, drink the 4th glass of wine with you, lay on rugs, play ridiculous card games, and patiently sit there listening to you tell them again that you can’t possibly do this. Hold these people close because they are the real deal. The other friends and family members? Eh, not everyone is meant for you and that’s okay. Also, you have my permission to eliminate them from your circle. They can belong someone else’s circle of crappy friends. Bye Felecia👋
The more shit life has thrown my way, the more my perspective has evolved. This past week was huge for a lot of families. We finally got our diagnosis. Sweet William with cerebral palsy, who has had multiple surgeries and years of physical therapy, took his first unassisted steps this week! The video is just incredible, and I could barely hold it together. I know his mama was wrecked in the best possible way. Another college friend gave birth to a precious, tiny baby girl. She and her family have experienced true heartache with two stillborn daughters, and this sweet angel may have arrived a little early, but her safe arrival has been celebrated by all. My heart could have burst from joy for these families! On the other end of the spectrum, I have been shocked at a dear friend’s very serious cancer diagnosis. My heart has just ached over it. Life has a way of presenting us with a strange and constant dichotomy of both joy and sorrow. I was amazed at my ability to feel both so profoundly.
If I can impart any wisdom at all in my rambling, I want you to realize that while you might be having a normal day, or even a great day, others are having their worst. Sometimes even days that have victories can also be bittersweet. Please, please be kinder and gentler than necessary. My new goal in this life is to recognize and celebrate the victories as they come and to aggressively love on people who are in those dark trenches. And y’all, the Rayners are not in the trenches. Please, don’t feel sorry for us. We are happy and laughing and thankful for this incredible life, wretched moments and all.
If you’ve made it through this journey with me, thank you. Love to all.
*To any and all PTs, OTs, and STs out there: you have no idea the impact you have on your patients and their families. What you do is vital, and without intervention, Clark would not be where he is today. Thank you, thank you, thank you.