Abby was diagnosed prenatally with Pierre Robin’s Sequence, which is a small jaw and airway, as well as a cleft soft palate. We were concerned, but confident that we could handle the potential feeding and speech issues that would come with the syndrome. She was born at 34 weeks due to my fluid levels being too high.
Shortly after her birth, a routine preemie x-ray showed that about half of her ribs were in multiple pieces, her sternum was not intact, and her spine had a curvature and a hump. 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 65 confirmed cases, and there are currently only 10 children living with the condition.
A “Fragile: Do Not Handle” sign was tacked to her open air warmer and my baby girl struggled to breathe under an oxygen tent for the first five days of her life. The frequent beep of desaturations was always in the background, and she had one nurse assigned just to her because her condition was so serious. We had conversations about DNRs, fought with doctors about our decision to do a full code (read: save her life!), shed many tears, and prayed, prayed, prayed for our little girl.
On Abby’s 5th day of life, she had to have an emergency tracheostomy after a failed intubation and was placed on a ventilator. She had a g-tube placed at 3 weeks old, already surpassing me in number of surgeries!
Much to the surprise of some of her doctors, Abby steadily improved and was able to come home at three months old. What an incredible answer to prayer – and what a terrifying day! I don’t think I slept for a minute that first night, and I swore up and down that we would never leave the house again. Guess what? There really is life after a trach and a vent!
Since we’ve been home, we have learned a ton about the “joys” of home nursing, medical red tape, federal healthcare, and anatomy! We have also had many many miracles occur in the life of our girl. For one, Abby’s crooked and hunched spine is now completely straight! When one of the best pediatric spinal surgeons in the world gives you this news, you run with it!
Abby’s ribs are calcifying, and the gaps close to the sternum have closed up. This is allowing her rib cage to be much stronger than it was, which means it can also protect her heart and lungs better. We have been told by the thoracic specialist that she does not have any physical limitations – she can even play soccer!
Abby was 100% vent dependent until 11 months old, then used it at night until 19 months old. We finally kicked the vent to the curb once and for all last month, and celebrated with a NO MORE VENT party!
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 report that Abby is performing at the same cognitive level as her peers, and she is some kind of sassy! The delays she does have are physical, but she is crossing items off of the doctors’ “Things Abby Won’t Do” list, one small miracle at a time!
We were told she would be deaf – she hears perfectly fine with no significant hearing loss at all. We were told she would be blind – her optic nerves are now within normal limits. We were told she would never walk – she walks, runs, jumps, kicks, and hops her way around our house! We were told she would never eat by mouth – she is currently in feeding therapy and increasing her oral intake by the day. I can hardly keep her hands from stealing food off my plate! We were told she would never talk – her vocabulary is amazing and her articulation is really taking off now. We were told she would most likely be vent-dependent for life – that eyesore is gone!! We were told that she would never breathe without the aid of a trach – there is a very real possibility that Abby may be trach-free before the end of the year!
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!
I want people to know that there is always hope, and that sometimes miracles come out of even the darkest of situations. It may look grim, but there is always hope!
Cerebrocostomandibular Syndrome Overview
Cerebrocostomandibular Syndrome is an extremely rare inherited disorder characterized by an abnormally small jaw (micrognathia), malformations of the roof of the mouth (palate), improper positioning of the tongue (glossoptosis), and abnormal development of the ribs (rib dysplasia). There have been only between 60-75 cases diagnosed. In most cases, such abnormalities contribute to respiratory problems (insufficiency) during early infancy. Although some affected individuals have normal intelligence, others exhibit moderate to severe cognitive delays. Although research suggests that cerebrocostomandibular syndrome is usually inherited as an autosomal recessive genetic trait, some cases have also been documented in the medical literature that suggest autosomal dominant inheritance.
Micrognathia, cleft hard palate, rib gap anomalies (gaps or missing). Because of the rib anomalies, most children also have some form of scoliosis and/or kyphosis. Some children have hearing and vision problems. Despite the syndrome’s name, most cognitive delays are as a result of lack of oxygen due to respiratory distress.
Children with CCMS always have Pierre Robin’s Sequence (small jaw, cleft palate). What distinguishes CCMS from PRS is the rib gap anomaly.
Genetic testing with reports sent to large skeletal centers like Cedars Sinai in California. There is no known specialist because the syndrome is so rare.
Treat the symptoms, not the syndrome. Cleft palates are repaired around 12 months. Rib gaps can be left to calcify on their own, or additional bone grafts and rib implants can be done. Spinal fusion may be necessary to repair scoliosis or kyphosis. Tracheostomies are often necessary to ensure proper respiratory function.