Cerebrocostomandibular Syndrome...ever heard of it?! Neither had we until our lives changed forever on October 22, 2010. The prognosis may be grim, but we serve a God who is SO much bigger than a syndrome no one has ever heard of! Here is our story...
We found out at 20 weeks that Abigail had a small jaw. After getting a level two sonogram done at University of Maryland Medical Center, she was diagnosed with micrognathia and Pierre Robin's Sequence. I was closely monitored and hospitalized for 5 weeks before Abby literally flew into this world at 12:12 a.m. on October 22nd, 2010 weighing 4 lbs and measuring 17 inches long. They took her immediately to begin working on her, but we were able to see her very briefly before they took her downstairs.
The NICU staff took an xray and found that her ribs were in multiple pieces. It honestly looked like someone took a hammer to them. They hung a "Fragile" sign above her bassinet and we weren't allowed to hold her. Later that morning, we met with the geneticist who gave us the difficult news of Abby's diagnosis: Cerebrocostomandibular Syndrome. This incredibly rare syndrome affects the brain, ribs, and lower jaw. There have been only 75 confirmed cases, and there are currently 10 children living with it.
No one knew what was going to happen, and the doctors really didn't have much hope. Abby spent the first five days of her life struggling to breath until she had an emergency tracheostomy on October 27th after a failed intubation and was placed on a ventilator. She had a g-tube placed on November 16th so that she could get the nutrition she needs without a tube in her nose.
Abby moved from the NICU to a pediatric rehabilitation hospital on December 2nd, 2010 and finally came home on January 18th, 2011. It was one of the happiest days of our lives and a huge answer to prayer!
Although it has been a long, sometimes very challenging, road, we have also had many many miracles occur in the life of our girl.
We were told she wouldn't see--she wears glasses for a strabismus and can see just fine!
We were told she wouldn't hear--although she does have some hearing loss, it's nothing her hearing aids can't take care of!
We were told she wouldn't speak--she can talk your ear off! Although we are still working on her articulation, her expressive language is wonderful!
We were told she would never walk--she walked and ran all in one day at 19 months and hasn't stopped!
We were told that Abby would be trach and ventilator dependent for life--in June of 2011, we began ventilator weaning. When I pushed to start it, Abby's pulmonologist told me, "I'm not sure that Abby will be able to do this...but Abby is doing a lot of things we didn't think she'd do, so let's go for it!" She was off of the vent while awake by September 2011, and completely vent free in June of 2012!
The even BIGGER miracle is that Abby had her trach removed on September 6, 2012, less than 3 months after getting off of her vent!!! She's been doing great and has proven that she can handle illnesses well. We have some safety measures in place because of her small airway, but I've been thrilled with her medical progress! We're all also enjoying the freedom of not having home nursing! :)
The first few months of Abby's life, we really weren't sure about her brain development. The doctors were not very optimistic and we were told that she wouldn't be much more than a vegetable. It was a "wait and see" game that I really didn't want to play. I'm happy to say that Abby has NO cognitive delays! She walks, runs, skips, and jumps, and she LOVES to wrestle with her daddy and Caleb! She does wonderfully in school and amazes us with the way she loves to learn.
In August 2014, Abby began a new journey as a VEPTR (Vertical Expandable Prosthetic Titanium Rib) was attempted to be implanted to reconstruct her chest wall. Unfortunately, her ribs are a ribbon consistency and couldn't hold the VEPTR. Thankfully, the bone grafts took and the VEPTR was successfully inserted in April 2015 (right side) and August 2015 (left side). In May 2016, two more long rods were inserted from her rib to her pelvis to stabilize her kyphosis. By the time her chest wall stops growing, she will have had approximately 40 surgeries to correct her ribs and spine. While we were hoping to avoid these major surgeries, Abby's scoliosis and kyphosis are progressing because her ribs are unable to properly support her spine. Her rib pieces are overlapping each other and constricting lung development. This is causing her right lung to be significantly smaller than normal and her lung functioning is only about 40% of what it should be. The VEPTR is our only option.
We get asked all of the time what Abby's prognosis is. The answer: we don't know! Abby is paving her own way at this point, and it's hard to compare her to the few older CCMS kids we do know because each child has his or her own set of issues. But we do know that Abby is doing REALLY well right now, and we are thankful for every minute.
This has been quite a journey, but we are so thankful to God for giving Abby a fighting spirit. That spunkiness has helped her to make it this far and has been such an encouragement to us! We love our little girl unconditionally and will do anything we can to help her and support her development.
We have been amazed again and again by God's grace and faithfulness to us. He has provided in ways we never could have imagined, and we know that He has chosen us to be Abby's parents. It is not our job to question why He gave her CCMS; our job is to love Abby and raise her to love God!
Thank you for joining us on our journey. We know that God will continue to give us enough grace for the moment!