Today is Rare Disease Day- I should have done more to raise awareness, like change my FB profile picture or share facts about rare diseases all week. But, I didn’t, and my excuse is I’ve been slightly overwhelmed by the rare disease that we live with all 365 days of the year.
Ironically, this morning, on Rare Disease Day, we got some potentially huge news about Grayson and his disease.
Six years ago, in 2012, Grayson had a vial of blood drawn for a big genetic test. He was a year and a half old. At the time, we had no idea what Grayson “had” and all I wanted was for that test to give us answers. Tell me what to call it. Give me a name for the collection of symptoms my baby struggled with and a reason why he wasn’t meeting any milestones. It didn’t happen.
The results of that genetic test came back inconclusive. Grayson had some genetic variants (as do all of us) but none of them could specifically be labeled as disease causing. It was so disappointing at the time, but eventually we all but forgot about it. Grayson was clinically diagnosed with Mitochondrial Disease, and a few months later, after an MRI of his brain, with Leigh Syndrome. So we finally had a name.
At first, the diagnosis of Leigh Syndrome was horrifying- all I could focus on was the “terminal” label that comes with it. It took several years of processing and grief, but eventually I had peace, even comfortability, with the diagnosis. I made friends with other Leighs families, got involved in support groups, and formed excellent relationships with his doctors. And last year, 2017, Grayson had an amazing year. He went the entire year without a hospital admission except for a surgery he had in April. He was thriving in school, and making progress in therapy. We were coasting.
I’ve barely thought about genetics in several years. We had a diagnosis, Grayson was doing fantastic, so finding a genetic cause for his disease just wasn’t something I thought or really even cared about anymore.
A few weeks ago, all that changed. I had just dropped the little kids off at preschool and pulled out my phone. I had a text, email and voicemail from Grayson’s original neurologist that had ordered that genetic testing all those years ago. I hadn’t spoken to him since 2012 (we stopped seeing him when we started seeing the Mito specialist, who is a neurologist as well). The basic message was “New Findings on Gene Test- please call”.
I called his office and they immediately transferred me to talk to the doctor. If you are in the world of medically complex kids, this does not happen. You don’t just get put through directly to a doctor. But he had big news and wanted to be the one to tell me.
Basically, geneticists have reclassified one of Grayson’s gene variants. This variant was previously classified as benign, but has now been reclassified as disease-causing. So, this means that after 6 years, we finally have a genetic reason why Grayson is who he is.
This morning, we took Grayson to see the neurologist to go over the report and get a better understanding of what all this means. He used a lot of big words and it was hard to piece together some of what he was saying, but I think I have a basic understanding of the current findings. I googled the disease (Hypomyelinating Leukodystrophy Type 9) when I got home and the list of symptoms and the timeline when they show up is exactly what we’ve seen with Grayson. There are specific things like, “Spasticity, more apparent in the lower limbs” ,”nystagmus”, “onset in the first year of life”, and “thin corpus callosum”.
What I don’t know is what this means for what we call “it”. Does he still have Leigh Syndrome as well as this new diagnosis? I don’t know. We have an appointment with his Mito doctor next week so we will know more then. This will impact our other kids and their future reproductive decisions because there is a good chance they are carriers of this mutation. I also don’t know what this means for Grayson and possible treatments, or his life expectancy. I feel like this “answer” has now just flooded me with even more questions.
Regardless of what diagnostic label is on his medical chart, Grayson is still Grayson. Before anything else, he’s my son- my perfect 7 year old little boy who captures the heart of everyone he meets.