I am often surprised by my stoicism. And yet, when I randomly have an emotional moment I cannot – literally, cannot, for the life of me – control, I am even more surprised. This happened on Monday, when the genetic counselor called me to make sure they had all of Kiran’s updated info before our appointment with them on Tuesday. She asked a simple question – what is your biggest concern right now? – Well. Well.
I teared up immediately. And began apologizing even faster. It caught me completely off-guard, like the question “Do you have any siblings?” used to. I forget, sometimes – living inside stoicism, hiding behind anger, muscling through the daily routine – that I also haven’t grieved this yet.
I shared with someone, in a rare moment of transparent honesty, that I feel like this new cycle of grief hasn’t been faced yet. And when I get there, it will pull me under for awhile. I don’t have the luxury of living inside the grief, but I know – I know, from previous experience – at a certain point, it bubbles up inside to a point it cannot be ignored.
This isn’t what I came here to write about.
We saw genetics on Tuesday afternoon. This wasn’t so much an information-receiving appointment – more a next steps kind of appointment. We did talk through the MRI again. We heard the same things. Kiran’s brain is small. This is consistent with what we are seeing with his development. He is progressing, it is great – at some point, we don’t know when, he will reach the top of his skill level. But he is progressing.
He also has a small corpus callosum, apparently. That was new information. That is the part that connects the two brain hemispheres. The genetic doctor told us there are some people who don’t even have a corpus callosum and have no noticeable symptoms – so this may be insignificant, the fact Kiran’s is small.
We are being referred to a neurologist.
They do have a plan for genetic testing. My poor, sweet boy had to have blood taken – always, always a hard thing; one of the hardest for him, it seems. They will first do a screening for Congenital Disorders of Glycosylation.
I am not a geneticist. My very crude, basic understanding is this is an umbrella term covering several disorders involving proteins being sent to the wrong places in the body, causing multiple things to develop or function in abnormal ways.
I glanced through the informational packet on this. Briefly skimmed some of the specific syndromes. I don’t care to get too invested until I know this is what Kiran has. I hold so much in my brain already.
We will have the results in two to three weeks, which is also known as lightning speed in the genetic world. If the results are abnormal, we can do further testing to hopefully find a specific diagnosis within the disorders of glycosylation. If it comes back normal, the genetic doctor had some other ideas of paths of testing to follow.
Why do this? It’s simple. If we can find a diagnosis – pinpoint an underlying cause for the many conditions Kiran lives with – we can have a prognosis. We can have an idea of what his life might progress like – what kinds of services or equipment he may need – what we can do to help him live the best life he can live. A diagnosis would help us plan and prepare – two of my most favorite words. And it would help us understand.
Kiran is Kiran. A diagnosis wouldn’t define him or limit him, but it could help me help him. It could help me wrap my brain around the life he will have – the life we will build together and share.
We are taking steps in the right direction. Always. I can feel that truth.