Grayson’s genetics appointment was this morning. We’ve had this appointment for months and months, and were anxiously waiting to finally talk to the doctor about all his issues. The past few weeks I’d been worried that we’d come out of the appointment underwhelmed and disappointed with a lack of answers. Well, fortunately that wasn’t the case. We have a LOT of information to process, both intellectually and emotionally.
We liked the doctor a lot. He presented a lot of complicated medical information in a way that we could (mostly) understand and answered my questions and patiently repeated and clarified anything I asked him to. He was sweet and personable with G-Man (which I have come to realize is very important to me). And he seems to be aggressive and interested in figuring out the cause and treatment for G’s condition.
We started with a complete medical history, both for Grayson and Ryan and me. It always catches me off guard when I give a summary of all we are dealing with- in everyday life, I rarely focus on all of his issues at once, but it tends to overwhelm me when I talk about all of them: developmental delay, failure to thrive, vision impairment, seizures, low muscle tone, eating issues, gastric emptying delay, and possible hearing and speech problems. It’s a lot.
He also did a physical exam and made a lot of notes. Several things he pointed out: G’s reflexes aren’t normal (you know, when they tap your knees), he still has the Babinski response- his big toe goes up when you stroke the bottom of his foot (babies usually lose this reflex at about 6 months), and he has Clonus. I had never heard of Clonus, but he showed me what it was- when he flexed G’s ankle, it almost looked like it was vibrating- the doctor said he counted 25 movements before it stopped (less than 5 is normal). All of these indicate that his central nervous system isn’t firing correctly, which we knew.
So, after reviewing the bloodwork we’d had drawn previously, his symptoms, and the physical exam, the doctor told us he suspects Grayson has one of two disorders: Mitochondrial disease or Congenital Disorder of Glycosylation. I know quite a bit about Mito, since that’s what his neurologist has brought up before, but I had never heard of CDG. I still know almost nothing about it, and am in no mood to consult Dr. Google tonight. But apparently there are several types of CDG and only one is treatable and it’s highly unlikely G has that type, since it’s usually marked by constant diarrhea (which G does NOT have). G also does not have 2 physical characteristics of CDG- inverted nipples and fat pads on his butt, but this does not exclude him from having it. Thankfully, for this disorder, it’s a simple blood test to diagnose, which we did today. We should know if he has CDG in about a week.
If Grayson tests negative for CDG, which is likely, he will be tested for Mitochondrial disease. Mito is a little trickier- it’s very difficult to diagnose, and it’s not just a simple bloodtest. He will have to have a muscle biopsy, which is a surgery, under general anestheisa. The doctor was honest- it’s invasive, will leave a scar (on his thigh or calf) and is a tough recovery. They will test the muscle for a lot of things which will take about 10 weeks. IF the biopsy comes back showing mito, then we have to narrow it down to which gene(s) are affected. Here’s the kicker- there is a blood test for that which identifies the defective gene out of MILLIONS and MILLIONS, but it’s only been out for ONE WEEK and costs $25,000. Yes, your read that right. Twenty five THOUSAND dollars. Insurance, are you listening? Oy. The doctor said he’s done this test in clinical trials and has diagnosed a number of children with it.
Of course we are sad, anxious and scared that G will probably have to have the biopsy. And to make matters worse, he may have to have 2 surgeries in the coming months if he ends up needing a G-tube. But, we have to do everything we can to learn the cause of his problems, so we know how best to help him. I almost cried at one point during the appointment- he was talking to us about having a child with special needs and how we need to prepare for this to be a lifelong journey. He was absolutely upfront and honest- Grayson will most likely have significant learning disabilities and may not walk or talk for quite some time. Of course I already knew this, but hearing a doctor say it was different. Tough.
I debated whether or not to write about this next issue, but I’m an open book and it helps me to write and just get it out. Both CDG and Mito are usually inherited. Usually, not always. I don’t completely understand the complexities of how, and in what combinations, but what I do understand is that there is a definite possibility that any of our future children could be affected by the same disorder. If whatever he has did come from us, at best, we would have a 25% chance of passing it on again, at worst, 100%. If and when Grayson is diagnosed, Ryan and I will be tested. The doctor talked to us about several options- an amniocentesis during pregnancy, which really won’t be an option for us because we would not terminate a pregnancy, or IVF with genetic testing of the embryos before implantation. And of course there is adoption, which we do have a heart for.
But for now, we need to focus all our attention, energies, resources, and love on Grayson. He’s amazing- with all he goes through every day, he still manages to give us that heart-melting smile and silly giggle. I am determined to give him the best possible life- whatever it takes.
And now, just because, here’s a couple pictures of our cutie-pie little trooper.