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.

Symptoms
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.

Testing/Diagnosis
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.

Treatments
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.

Resources

22 thoughts on “Abby is 1 of 10 Children Living with Cerebrocostomandibular Syndrome”

  1. Ryan Arlet says:

    My name is Ryan- I have the same thing- i was born in 85- said i wasnt goin to live an hour after my bearth and hear iam. I am very smart- and well “normal”- and living a healthy life now. I’ve had about 20 some surgeys but i came through , and i’m fine.

  2. Hi Ryan! We are certainly glad you are here! Thank you for sharing your story with the rare community and especially to those who share your same diagnosis. Your words are encouraging and we are so glad you are living a healthy life now! Hope is in our Genes. Take Care.

    – Global Genes Team

  3. Merary says:

    My baby was born on 9-19-12 with the same syndrome CCMS. I’m want to contact Abby’s parents. Thanks God Bless You 🙂

  4. Nichole says:

    My son Ty was born 5/3/10. He was also diagnosed with CCMS. I would like to say thanks to Abby’s parents for sharing her story. There’s some relief in knowing there’s others out there with a face and a story rather than just 65 cases reported. I wish the best to all of you

  5. Nichole says:

    My son Ty was born 5/3/10 and was diagnosed with CCMS as well. I would like to thank Abby’s parents for sharing her story. There’s some relief in knowing there’s others out there with a face and a story. Rather than just 65 cases reported. I would like to wish all of you the best. Good luck and stay strong

  6. Sarah says:

    My daughter was born 12-13-2011 and was diagnosed with CCMS not long after. She is assumed to have inherited it from her father (who was also diagnosed with CCMS as an infant) which we were told by a geneticist is very rare. Thank you for sharing Abby’s story I always am looking for other families who have been affected by this syndrome to hear their stories.

  7. Leanne Dixon says:

    My son Matthew is now 13years old.He has CCMS and started high school this year 2014.Im so proud of how far he has come in life.Was suppose to never make past 2.He has had 51 operations since birth 26/4/01.He walks short distances before he gets tired and requires his wheelchair for support.He has restrictive lung disease and is on a bi-pap machine for night time to support his breathing.He beats or the odds that the doctors said he wouldn’t do.He is my miracle boy

  8. April says:

    My husband and our second child have it!

  9. charise says:

    My daughter has is also its so nice to see so much positives when all ive heard is negatives about this condition my older daughter has prs too if only someone had told me about the possibility of prs being linked to this i may have been prepared

  10. Patty Brand says:

    We are raising 1 of the 10 CCMS kids ourselves here in TX, and she is now 7 and thriving! Your story brought tears to my eyes as I read and realized how incredibly similar it is to our own. I would love to personally connect with other parents of CCMS kids, so please contact me through our LO’s website, http://www.jayleesjourney.net. Thank you so much for sharing Abby’s story! Patty Brand

  11. katie says:

    My daughter looks just like your daughter! We have been trying for 3 years to figure out what syndrome she has! I am going to talk to her genetics team about this! She has 23 different diagnosis and she see’s 8 different specialist and 3 therapist. She was born early with Micrognathia and she is missing a set of ribs. we spent 10 weeks in the NICU and she has had 7 surgeries. They look like twins!! Like I am literally sitting here in SHOCK! I went to your site and my daughter and yours have crazy similar stories! I would love to talk to you!

  12. Laura Singleton says:

    My son Grant, who will be 12 tomorrow, was born in 2003 and diagnosed early on with CCMS. He is post trach and feeding tube! He’s well rounded in school and sports. He has had numerous surgeries and also has a Cochlear implant…the BaHa. He is experiencing back pain now due to scoliosis. He is my miracle baby as well! We are from Alabama and no known family member ever having this before. It’s interesting to read everyone’s story 🙂

  13. Hi ryan I am.So happy you are doing great. I was wondering if you can share a bit of your journeys ccms. If you don’t mind to share it. I have a son of 2 month old. Please contact me prisms173@Hotmail.com
    Best regards for you
    Bless you.

  14. Oriana says:

    Hi
    My name is Oriana I have a 2 year old boy and my 2 months old boy with ccms. He has a trachy, nasal g_tube, and he recently had a bilateral mandibular distraction, I would like to chat with you and if you can share with me your story. Best regards

  15. Oriana says:

    Hi
    My name is Oriana I have a 2 year old boy and my 2 months old boy with ccms. He has a trachy, nasal g_tube, and he recently had a bilateral mandibular distraction, I would like to chat with you and if you can share with me your story. Best regards

  16. anu says:

    Hi Ryan,
    We just found out that my 12 yrs old has same syndrome. I am crying right now and need guidence. Can you please email me or share me your email address? Mine is anu_shah@hotmail.com

  17. Charlotte says:

    Hello, I wanted to reach out and let you know that I have a grandson diagnosed with this syndrome. He turned 2 in February 2016…a true miracle. I would love to chat more with you regarding your daughter’s journey.

  18. Oriana says:

    Hi I also have a baby boy who has this syndrome and I know 5 other families with kids with same syndrome . You are welcome to contact me if you like. All the best
    Oriana173@Hotmail.com

  19. Oriana says:

    May ask how are they know ?. I also have a baby boy with this syndrome. All the best
    Oriana173@Hotmail.com

  20. Hi Laura I would like to chat with you. My son has this syndrome too.
    Oriana173@hotmail.com
    Please contact me
    I would love to know about your son journey

  21. du says:

    Hey! I’m a 18 year old boy and I was born with CCM Sydrome. I’m healthy and I’m “normal”. Sometimes it’s hard to accept yourself but what can we do? I’m living my life like anyone else. I had 4 surgeries but I’m fine.

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