Special needs baby

ckcshumphrey · February 2016

Hi! Wondering if anyone else is expecting a baby with special needs?

We went to Fetal Foto at 18 weeks for a gender scan and the tech mentioned that our baby girls shins seemed shorter than normal and that her feet seemed to be positioned awkwardly. Then, at our 21 week anatomy scan they confirmed that legs were measuring short and feet seemed to be positioned strange and we were referred to Maternal Fetal Medicine.

We met with them at 22 weeks and we were hit wit news that was much more troubling than we had expected. Our baby girl's legs were measuring 4+ weeks behind and also appeared to be bowed, possibly fractured, along with seeing some lower vertebrae that were only partially formed, among a few other things.
At that point the Dr. told us that our daughter likely has a skeletal dysplasia, which is the umbrella term, and possibly (more specifically) osteogenesis imperfecta "OI" or brittle bone disease, though it causes issues with much more than just bones.

We chose not to do an amniocentesis to see if it is OI because you can't even determine what type from an amnio and it really doesn't make a difference to us. So, now we monitor things and see if anything changes or they can close in on a more firm diagnosis.

I'm happy to discuss more if anyone would like

and would love to know what anyone else is experiencing.
Thanks!

doozer1345 · February 2016

I don't have any experience with this but wanted to send hugs your way!!! I know it's nerve racking for sure.

Merciel · February 2016

No firsthand experience, but I have a pretty good friend with osteogenesis imperfecta and he's a really nice, smart, funny guy, one of the best people I know. He works two jobs, one of them pretty physically demanding (he's in the service industry, which is much more physically intensive than a lot of people realize), and is completely independent and helps his relatives out a lot too. I guess maybe that's just saying the obvious, but I wanted to mention it because I don't know how common OI is or how many people have lived with it.

The main thing for my friend is that he has to be really careful in the winters (he lives near Chicago so there's a lot of snow/ice and wind) and wears YakTrax on his shoes and carries around a coffee can of salt or gravel to help with especially bad footing in slippery areas. I think that's the biggest adjustment he's had to make to accommodate his condition. I won't lie, he's had more than his share of broken bones, but he is an admirably resilient person and he hasn't let it hold him back.

mrstmoose · February 2016

I have no experience but wanted to suggest possibly seeking out a support group/Facebook group of parents that have children with the same diagnosis? I have some friends that have kiddos with special needs and they've found a great community by joining something like that. Sorry for such nerve wracking news but it sounds like you guys are doing everything you can for your LO!

gemini2005 · February 2016

I started talking to a random stranger at the grocery store a few months ago and I remember her mentioning that her two grandchildren had OI. She said they are leading mostly normal lives with minimal problems. The one boy had it a little bit more severe than the girl.
I hope your LO has a mild form and everything is okay. Please update when you have news on the specific diagnosis. T & P to you guys!!

JoMunson · February 2016

I'd start reading up now all you can on IEP and 504 plans in your state. If you don't know, these are education plans for children who need academic/physical accommodations to be able to access public education. Look at what a common plan would look like for a child with your LO's condition, what kind of accommodations the school is required to provide, and what you might have to negotiate on. Special needs parents need to be advocates for their kids in terms of education and access. Become an expert on your child's condition and you'll do amazing!