In the world of parenting a children with disabilities I have always considered myself fairly lucky in regards to our diagnosis. Both in the sense that our diagnosis does not affect the expected lifespan of our son and also in the fact we received a firm diagnosis before Timothy was even 1. I didn’t even realize how lucky that second one was until I started talking with parents who were still awaiting diagnosis at 2 and 3 years old.
LCA seemed like our best case scenario when we went through testing because it wasn’t life threatening. Sure, Timothy’s condition was causing some other developmental delays but that’s to be expected…right? I mean if you can’t see it is pretty scary to let go and take steps on your own, and how can you learn the words for cup or bowl or spoon or fork when they all feel similar to each other. Not to mention the absolute lack in therapies for most of Timothy’s life in the times of Covid.
I’d say I have felt pretty secure in our trajectory and what the future held since getting the results. But maybe I was too comfortable, maybe I was missing something, or there was something I just didn’t want to face. At least that’s what one of my son’s doctors thought.
So when I sat in front of a doctor in April for the first time and was told they would like to run a chromosomal array, well I wasn’t happy to say the least. I thought you don’t know Timothy, you just met him. How could this doctor sit there and question his diagnosis, it made no sense. And as I left that meeting with the words “he doesn’t look like he has a syndrome but we might as well check” ringing in my ears I started to feel a little off balance.
There was no way he didn’t have LCA. I mean we were all genetically tested. That can’t be wrong can it? It wasn’t. So after sending in our full retinal genetic report and finding out nothing came back on the chromosomal array I thought “Ha!” I won this round.
Unfortunately that was only round one. And this doctor was still not comfortable to say that his developmental delay was caused by LCA or at least not entirely. So when we spoke over the summer I was told that yes Timothy does have LCA…but (oh no) that doesn’t mean he can’t also have another condition affecting development.
Another condition? On top of LCA? I wasn’t ready for that. We got our answer a long time ago. We have accepted it (for the most part). Living with LCA is our life now. I’m not ready to go through another diagnosis.
Our next appointment to further discuss the testing and to possibly perform the test was scheduled for October. The reason we had to wait so long was because it is a BIG test and they had to apply for approval to fund it. It’s a test called Whole Exome Sequencing (WES) and it goes through about 20,000 genes, it can tell us a lot of information about Timothy’s genetic make up. So for the 3 months leading up to the appointment I went back and forth in my head about whether or not I felt another test was worth it.
Most of the time I landed on NO. I know my kid. I know him. I’ve watched him struggle and I’ve watched him learn. Yeah maybe he isn’t where we thought he would be, even with the LCA, but he’s making progress…isn’t he?
But as we got closer to the appointment I started to question myself more and more. Is he making progress? His speech has improved for sure but physically has he changed much this year?
I started to think about the disability funding we get and how they wouldn’t pay for therapies because he’s “just blind”. I started to think about the fact he will be in preschool next year and being able to access the appropriate amount of help for him. And I started to think of myself at the beginning of this journey. I started to think of the endless hours I spent trying to get Timothy to look at me, trying to convince myself it wasn’t what they thought it was.
And so I decided to do the test. Because not doing the test was for me. Because I’m not ready to have another diagnosis thrown at us. Because I’m scared of what could come back. Because I’m comfortable with how things are.
But doing the test is for Timothy. Because if something comes back we can manage it, we can access the appropriate help, we can learn about it and what it means for his future. And then we can begin to accept it.
So here we are 2 years later almost to the day sending blood work to Finland and beginning our wait…again.
Thank you for reading and continuing to support our journey.