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April 04, 2016

Spondyloepiphyseal Dysplasia Congenita - Furthering Aiden's Diagnosis

I dare you to say that 3 times fast, cause David and I sure can't! The geneticist told us to just remember SEDC Dysplasia.

The geneticist was able to get a few xrays done (hooray for Aiden tolerating that!), and based on those this is the diagnosis they are now leaning towards.

My head feels like it's swimming right now with so much new information. While I understand the diagnosis and why they are leaning to it, I find myself struggling to articulate it to anyone else. I feel as if I've been thrust into a very new world and it's going to take my brain a while to catch up.

They no longer think Aiden has Achondroplasia (most common form of dwarfism), and are now leaning towards
Spondyloepiphyseal Dysplasia Congenita. This isn't set in stone yet either, but it's definitely a step towards the right direction.

No longer think Peter Dinklage, and picture Warwick Davis (the movie Willow) or Kenny Baker.

Again I'm in no way qualified to be discussing medical terminology and diagnoses. This is coming from what the geneticist explained to us and how I understand it. 

Achondrogenesis and SEDC are both stemmed from the same gene mutation collagen type 2 alpha 1, or COL2A1 for technicality. Achondrogenesis is the possible diagnosis they gave us while he was in utero that is extremely dangerous to babies. They typically only live for 3 hours and is why we were expecting a funeral. And while I'm sure there are some significant differences along the genome, the main difference between the two is if the baby lives or not.

The physical pointers for this diagnosis are still within his skeletal structure. He will have normal intelligence, and can grow to be anywhere from 3 to 5 feet tall. His small chest and underdeveloped lungs are a big indicator. Kids with Achondroplasia  (most common form of dwarfism) don't typically have an issue with their lungs and chest. Aiden also has a short neck and pubic bones that aren't yet fully ossified (still soft bone, the cartilage hasn't fully hardened yet).

Another pointer to this type of skeletal dysplasia is that the discs in the bottom of his spine are thinner. This causes him to have a short trunk.

Some of the other problems individuals with SEDC dysplasia may have in their life are hearing loss, near-sided vision with a risk of detached retinas, and club feet. Aiden's feet turn in a little bit and will need to be put in a cast eventually. He already passed his vision test, and he responds to our voices so we aren't worried about his hearing right now. When he is no longer sedated they will give him his hearing test.

As we sat and talked to the geneticist I made the comment that it sounded like we would be in and out of lots of doctor appointments. His response surprised me! He said, "No, not really. The key is to get him past the newborn stage and get those lungs working. After that he can have a relatively normal life."

That was music to our ears.

His nurse was surprised to see how calm and happy David and I were after speaking with him. After we explained what we've gone through with him, she said, "Oh, well no wonder you are taking this so well!"

And calm is how I feel about this diagnosis. Sure I also feel overwhelmed, there is still a level of uncertainty. And this isn't a confirmed diagnosis for him just yet. But when it comes to actually taking care of him and having a child with this type of dwarfism, I feel honored to be his mom. This is so rare that they don't even have a set incident number for it. What a special kid I get to have.

4 comments:

  1. What a cutie! This is good news for sure. Love you guys.

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  2. So happy for you and that dang cute boy!

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  3. Thanks for sharing this great article.Great information thanks a lot for the detailed article. That is very interesting I love reading and I am always searching for informative information like this.
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  4. I've been diagnosed this year with this same condition--SEDC. It explains so much as an unusually small male (4'11"). Back in the late 80's my parents had me see growth doctors and take synthetic growth hormone...of course, now, I now it was a pointless venture. Please feel free to reach out. I'm a PT with 2 small kids, have run a marathon, climbed mountains and seen the world. Definitely one of the gentler genetic rare diseases--of course, I'm sure the spectrum is wider than just my own experience.

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