Tomorrow will be two weeks since getting the phone call about Leighton’s genetic testing. It’s been a relief. It’s been emotional. It’s been frustrating. I have the ability to go from feeling hopeful to feeling hopeless within a matter of minutes. Here’s the information I’ve been given and what I’ve found. It’s not much, and yet it’s so much. It’s pretty complex, so hopefully I can explain it well. Remember folks, I’m no doctor (I know, seriously?), so I’m going too explain to the best of my knowledge.
Initially, the Dr. overseeing Leighton’s case at Wascana and I both thought that Leighton had William’s Syndrome. She was so certain, that when the testing came back negative to William’s, she called the lab in B.C. and asked them to check again. I’m guessing that’s what took so long for me to get results. So Leighton does NOT have William’s.
Leighton also does NOT have “Chromosome 12p Deletion Syndrome”, which is the deletion of the entire short arm of chromosome 12.
Everyone has 22 chromosomes. 2 copies of each (one from mom, one from dad), and each one has a short arm (“p”) and a long arm (“q”). The “Y” and “X” are the sex chromosomes, as in gender chromosomes. Anyone else already feeling overwhelmed?? Stay with me!
Ok, here’s a picture of one copy of chromosome 12. You can see the short arm at the top and the long arm at the bottom. Leighton is missing the section on the short arm from 12.3 – 13.1. Interesting side note: just a few years ago, genetic testing could only show a deletion of 5 megabases. (Megabases is how they measure the amount missing. Kind of like centimeters, ounces, inches, etc.) Leighton has 4.4. megabases missing. A few years ago, genetic testing would not have shown anything was missing, which would have been incredibly frustrating.
From what I understand, 13.1 is the gene called “GRIN2B”. In the research the doctor had done for us, she couldn’t find anyone with the exact same section deleted as Leighton, but she did find some recorded cases of people missing a section that also included the GRIN2B gene. They all had speech delays, friendly personalities, and basically “seem like Leighton”.
There’s no name for her deletion. Leighton’s Dr. joked that maybe in a few years it will be given the name “Dr. Soper Syndrome”, although I like “Leighton Syndrome” better. 🙂
We’ll be meeting with a genetic counselor in Saskatoon, but he won’t have any new information about Leighton’s deletion. It was just as new to him as it was to Dr. Soper. Meeting with him will be to test David and myself to see whether we’re carriers or if this is de novo. Dr. Soper said deletion, duplications and mutations in chromosome 12 are rarely inherited, it’s usually de novo. Which means the chances of it happening again would be as slim as it happening in the first place. Which is INCREDIBLY slim.
There are definitely positives and negatives to not having much information on Leighton’s deletion. It means we don’t have anyone to compare her to, so we don’t know what to expect, which is terrifying. But it also means we won’t put limitations on Leighton, since we don’t know what she’ll be able to accomplish. Like Dr. Soper said, Leighton is the boss. We will do for Leighton what Leighton needs. For now that means speech therapy every 2 weeks. Physio/occupational therapy was happening every 4 weeks, but we’re starting every 6 weeks now. She has the gross and fine motor skills that she needs, it’s her attention span that we need to work on. Now it’s about finding out what Leighton needs to bring her attention back. That way, when she starts school in September, when she gets distracted and loses focus, the assistant in her class can take her aside and help get her focus. Some kids need to spin around in circles for a while to get energy out, some kids go play at a water table because it soothes them. We will focus on doing what we need to do for Leighton to help her thrive.
Thanks for the thoughts, prayers, kind words and support during this time. I feel so blessed to have so many people in my life who care and ask about Leighton. And please feel free to ask questions. I may not always know the answer, but I don’t mind talking about it. But consider yourselves warned: the tears are flowing freely these days. 🙂