Last month I took Abby to see a really well known and loved geneticist at National Children’s Medical center in D.C.
I know it sounds funny to take a child to see a geneticist, especially because we know what it is that is going on with her. But what he does is specialize in all things genetic and the issues or non issues that arise from having a genetic disorder.
His name is Dr. Rosenbaum and he’s FANTASTIC. I could not have loved him more. I was there by myself along with all of Abby’s gear and her stroller. When HE called us back (not a nurse) he picked up my stuff, and pushed my stroller for me. When I needed to use the restroom (should not have drank an entire big gulp on the way there…but it was early and I was tired) he held and played with Abby so I didn’t have to take her in with me.
It was neat seeing someone, too, who knows SO MUCH about Down syndrome. He’s truly an expert in the field. He could look at me and tell me the facial features that were mine and the one that were Lance’s. He talked about all of the things she COULD do and was doing well. He feels the way we do: that Down syndrome is a BLESSING.
He also gave us a roadmap for the next couple of months. Abby needs to see several specialists including: a gastroenterologist, a developmental pediatrician, ophthalmologist, pulmonologist, get a sleep study done, and an immunologist. Not that anything is wrong, they just keep tabs on all of the things that could be issues with a child with Down syndrome. They did her blood-work there and everything looks great.
Her breathing is still an issue and he threw out the term “Chronic Obstructive Pulmonary Disease” again. We’re seeing the pulmonologist to confirm this. We’re hoping it’s not, but we’ll see. Either way, her lungs kind of suck and have a lot of damage from the problems she had as an infant. As she gets bigger and her body gets stronger, she’ll be able to compensate for her misshapen diaphragm more, but the COPD, if it what it is, won’t ever really go away.
Developmentally, Abby is doing great. She has super low muscle tone, so she’s not crawling right and walking is a long way off, but she’s working REALLY hard and she’s really active. She’s smart. She picks things up really fast. She loves puzzles and getting into things- like cabinets and drawers, and that’s almost at an age appropriate level. She’s also tall for a child with Down syndrome. She’s at the top of the curve on the Down syndrome chart. Gets that from her Dad’s side.
Other things that were super interesting: He said that Casey’s autism (and all autism) is GENETIC. 100% He said that there was nothing that I did to cause it. It’s just like Down syndrome. There’s a gene. Or several genes. But it wasn’t my fault. That was something I think I always thought I knew, but it was nice to hear it from an expert. He also wants to see Casey sometime soon, too.
He also wants me and my siblings to get tested for the colon cancer gene. Given the fact that my father died so young from cancer he said it’s more than likely he had the gene (FAP). It costs A LOT of money so he said he’d look into getting me into a study that would cover the cost of the testing. I should be getting colonscopies every three years as it is, but I DON’T LIKE THEM SO I DON’T DO IT. Is that a good enough excuse? Ug. Want to hear the worst story? I WOKE UP during my last colonoscopy. It was the worst thing in the world. My dad had bowel issues before his cancer, though, so hopefully they were the product of those and not a gene.
So that’s it. If you have a child with Down syndrome, look into seeing a geneticist. It was SUPER helpful. I feel like we are on the right track with Abby. She’s so great.
(also, her aid started today. She comes four days a week. I love her to pieces)