Thursday, February 28, 2019

It's Rare Disease Day!

I apologize for the lack of posting.  But...no news is good news in the medically fragile world!  Abby has been doing SO well and we are thankful for the many improvements to her health.  She had a touch of pneumonia in the beginning of February and stayed at home!  This is huge because pneumonia can be a beast for diseased lungs.  She did her breathing treatments like a champ and hung in there just fine. 

The last few weeks, her school has been pretty germy.  We kept her out for a week and a half to protect her while the flu made its rounds.  Everything is looking much better now though, so she happily went back on Tuesday.  While she is the one of my kids who I could easily home school, she is also the one of my two who simply loves being around people!

Today is Rare Disease Day, and I wanted to share what I have been posting on Facebook with you all here.

Cerebrocostomandibular Syndrome, Abby’s primary diagnosis, is extremely rare. There are only an estimated 10 children living with it. We have no support organization, no research funding, and no specialists. The parents are the specialists!




Abby’s secondary diagnosis is Thoracic Insufficiency Syndrome. She has a rib-gap anomaly that caused about 1/2 of her ribs to be in multiple pieces. Those pieces are a ribbon consistency, which leaves most of her thoracic cavity unprotected. Her rib cage is unable to expand, keeping her lungs from being able to grow.
Because her ribs are so flimsy, her spine is unable to be supported. She has congenital scoliosis (thoracic spine) and early onset kyphosis (cervical and upper thoracic spine).
Abby has VEPTRS (Vertical Expandable Prosthetic Titanium Ribs) created by Dr. Robert Campbell. These VEPTRS manually expand her rib cage because they don’t do it on their own. This gives her lungs the room they need to grow.
Abby in Summer 2016 with 4 VEPTRS

To date, Abby has had 31 surgeries. Most of them have been to work on reconstructing her chest wall and address her kyphosis. Right now, her biggest chest wall concern is her kyphosis because cervical kyphosis is really difficult to correct. 2 years ago, it began to compromise her spinal cord. A surgery to correct it caused a spinal cord injury that resulted in nerve damage and a whole lot of PT!
You can see the severity of the Kyphosis here, and this was during the time that she was braced

She has been in multiple braces, including a pinless halo for 6 months. She developed a severe spinal infection, resulting in an open wound for 13 months and a severe sepsis that nearly killed her. Her team ended up removing the hardware in the right side to get rid of the infection. Abby has been on long-term antibiotics to keep the infection at bay, and will continue to be for as long as she has hardware.

The pinless halo

We have not found the magical cure, so we are just in a waiting game as long as it doesn’t begin to affect her spinal cord again.
The left picture is Abby in September 2018 and the right is Abby's most recent xray

Abby was diagnosed in utero with Pierre Robin Sequence, which is a tiny jaw and often a cleft palate. It was enough for us to switch my care to a specialist in Baltimore, but it really wasn’t anywhere near the concerns they found once she was born. The NICU did standard preemie xrays and discovered multiple rib gaps. They had no idea what this meant and hung a huge sign on her isolette that said “Fragile! Do not touch!”
Thankfully, a geneticist had seen a case of Cerebrocostomandibular Syndrome 30 years before during her residency. She conferred with another hospital that specializes in skeletal syndromes and Abby was diagnosed in the same day she was born.
We were fortunate to not have to hunt for a diagnosis. Because of research studies, we were also able to have a total genome sequencing done without cost. This gave us quite a bit of information and ruled out other syndromes. Most rare disease families aren’t that lucky.


We have often been asked about Abby’s long-term prognosis. The answer is that we are thankful for every day! Because CCMS is so incredibly rare, studies on long-term health haven’t been done. Most babies die in the NICU if they are not treated with aggressive respiratory care, like a trach and ventilator. We had to fight for that aggressive care and know all too well how a grim diagnosis can affect the doctor’s willingness to treat the child.
I now know of 3 adults with CCMS and that gives me so much hope!!! So while Abby is blazing her own trail, we know that there is hope and we will continue to treat each symptom that pops up. Sometimes I feel like we are playing Whack-A-Mole! Lungs...now palate...now eyes...ribs...lungs again...feeding...scoliosis...ribs...hearing...kyphosis...lungs...lungs...lungs...lungs again....eyes...kyphosis...oops eyes again...🤣
Our girl is a miracle and we are so thankful to God for choosing us to be her parents. We will continue to choose joy and be thankful for every day!

1 comment:

Mary Lou said...

Julie....
I do not want to freak your poor Mama's Heart out, but please read my latest Blog post!! :)
http://writing--projects.blogspot.com/
Peace out, Mary Lou