Tuesday, October 25, 2011

Cleidocranial Dysplasia: A Rare Genetic Birth Defect That Touches My Heart--Because My Oldest Daughter Has it



I was a teenager when I had my first child. I had an ultrasound at 13 weeks and the physician didn't see anything abnormal with my pregnancy. I was still stunned at that point that I was pregnant at all. I did not have a follow-up ultrasound as my pregnancy progressed, so when I delivered I had no idea whether I was expecting a boy or a girl--as a matter of fact, I thought I was having a boy (this was my killer instinct telling me what was up. I even brought a BLUE outfit to the hospital to take her home in).

After I delivered her I immediately heard whispering. I didn't know what was going on. She looked perfect to me. 5 pounds, 9.5 ounces, 19.5 inches long...of sheer perfection. Although, I was still STUNNED that she was a girl. Her newborn APGAR scores were 9 and 10. There was no indication to me that anything was "wrong". However, the hospital staff kept saying, "Well, we just want to have her looked at a little further...".

I still didn't notice anything was wrong with my daughter. She responded just like a newborn would to everything. The hospital staff and doctors said they were concerned with the size of her head relative to her body. She passed all of their tests with flying colors. They wanted me to follow up with genetic testing at Children's Hospital when she was three months old. I thought they were crazy--How could they not see that there was nothing wrong with this baby? I thought they were all hallucinating. She still looked perfect to me. However, she did have a bit of a big head. I took her in for the genetic testing they suggested.

We were at Children's Hospital in Denver for about 20 minutes before a physician sat my baby up on a table and said, "I think I know what's wrong with her!" She took my daughter's arms, crossed them over one another, and her shoulders touched together at midline. They took her off to X-ray. It was confirmed--my child had no collarbones. Zero. Zip. Zilch. There was nothing there.

Cleidocranial Dysplasia is an autosomal dominant genetic birth defect that only about 500 people in the entire world have. By being "autosomal dominant" it means that my daughter has a 50% chance of passing it on to her offspring. When I researched it, it turns out that the documented origin was in Africa--and it was perpetuated by a guy who was born with it, but who also had like 50 wives and passed it on through them to his children. This is not something you can "catch". It is either something that is passed on through genetics, or it shows up as a new genetic mutation in pregnancy (AKA--a fluke). It is VERY RARE.

"Cleidocranial Dysplasia" literally means, "Abnormal formation of the bones of the head, and the collarbones". When the nurses in the hospital suspected my child was "abnormal" after delivery it was because her head was BIG. And there was a reason for that. NONE of the bones in her head were as close together as they were supposed to be. Her "soft spot" was the entire top of her head. It took 8 years to close.


This picture shows the abnormally large cranium of Cleidocranial Dysplasia. There are no mental deficits in people who have CCD--they just end up with larger-than-normal foreheads and a "soft spot" that may or may not ever close. Thankfully--Paige's did.


This X-ray in a CCD child shows the partial collarbones. There can be partial collarbones in some cases, or "stubs". My daughter did not have any evidence of clavicles.


There are a few other things that go along with Cleidocranial Dysplasia. These people have an abnormally narrow pelvis--and they are "SMALL". My daughter is nearly 20 years old. She is 4'11" tall, and she weighs 80 lbs. I am 5'8" tall, and so is her father. Neither of us have CCD in our history. This was either a "new mutation" in pregnancy, or it is also possible that it is a result of many X-rays I had taken after a car accident I got into prior to learning that I was pregnant. I will never know. Regardless, because of her small pelvis, she will have to deliver any children she has via C-Section.


Another thing that goes along with Cleidocranial Dysplasia is having extra sets of teeth, or missing teeth. My daughter was born with one set of baby teeth, and two sets of adult teeth--at one point she had three front teeth as a child. She had to have them removed, chained, and braced. She ended up with a normal set of teeth, but she had to have all her teeth removed at one point in order to chain the embedded adult teeth and bring down into her mouth.


This picture illustrates the large head, and lack of collarbones that accompany CCD.


My daughter also has an enlarged rib cage, and slight scoliosis that are part of the CCD. You can see her small frame--again, she is 80 lbs. To put it into perspective, my 9 year old twins wear the same size clothing, and weigh nearly the same as she does.


This picture shows the super narrow pelvic region and the wider rib region that my daughter has because of CCD. The only other minor things that she has "rounded" fingernails (not that you can tell by her acrylics here), and a signature "nostril flare" that is characteristic of CCD. Mentally, and physically she is completely intact. She can do anything anyone else can do.


There was an incident years ago where a CCD person was the only one who could fit down a well to rescue a child who had fallen down there--nobody else could make themselves small enough to fit down the well, but the lack of collarbones allowed for it.


This is my baby girl at Homecoming during her senior year. She is now a sophomore in college--and still the same size. Her CCD does not slow her down at all. She is "petite", and she shops accordingly. She is a pistol--like her momma. When I told her that she has a 50% chance of passing this on to her children her exact quote was, "Meh, they can just SUCK IT UP!"

I wrote this blog to give you all a little insight into my world. I also wanted to post this because people from around the world read my blog--and information on CCD is hard to come by. Especially personal stories. People with CCD can lead VERY NORMAL LIVES.She embraces her differences and wants people to be educated about CCD--she is actually posting my blog entry on her blog to educate people. My daughter is beautiful, and perfect in EVERY way. I couldn't have made her better myself. ;)

26 comments:

  1. this is really touching for me, i 've been living all my life with cleidocranial dysplasia , but just found out about it a few months ago. It didn't change they way i live in any sense, the only difference now, is that I know why I am like I am.

    It feels nice to know there are other people out there with the same condition, it makes me feel less lonely, after all this is a 1 in a million condition.

    greetings to you and your daughter from mexico city

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  2. btw....i'm exactly the same age your daughter is!...how awesome is that!

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  3. Wow! I am so happy that this blog reached you! We feel the same way...no one really knows a whole lot about it, and it can make you feel "alone", but rest assured, you are not! As soon as I posted this, my coworker from the Philippines saw it and said, "all my cousins have this, but nobody knew what It was!" Her uncle had it and passed it on to all his female children (all his male children were normal size). My daughter would probably like to speak to you about it. Are you on Facebook? I am thrilled you found this! :)

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  4. Yes, I´m on facebook, you can find me with this username. It would be fantastic to have another person's point of view about life with CCD.

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  5. I think it would be great if you two could be in touch. I'll look you up on there, too. :)

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  6. I looked for you on Facebook, Ignacio, but didn't know who to look for, picture-wise. You can find me on there under Whitney Madison with the same picture of me that's on my blog. Hope to see you on there. :)

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  7. I looked for you as well, but apparently there are many Whitney Madisons out there,and I couldn´t find your picture on any of the profiles. so here´s my e-mail address, nachitox24@hotmail.com I think it's the easiest way to find my profile.

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  8. I was very moved by this story. I found out that my daughter has CCD but not until see was 3 years old. I would love to chat with you if you have time to email. Its very new to me and I do feel very alone in what to is going to happen with my child.

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  9. Absoultely! I'd love to chat with you about it! Please don't be afraid of CCD. Although there are genetic malformations involved, these children are totally normal cognitively, and even above and beyond! They are VERY intelligent. Please contact me at whitney_madison@hotmail.com and we'll chat. :)

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  10. I LOVE your surfer art! Anywho, this post caught my eye! My bro, my sis, and I all have CCD in different manifestations. We've known about it since forever, which was nice because when my son was born and the NICU doc was reluctant to release him because of his gigantic soft spot, I was able to inform him of our little genetic disorder. My mom has it and my great-grandma had it. I guess we've taken for granted the fact that we've always known what it was and there was not really any doctor-sitting-us-down moment. In my son's case, at five days old, it was an "awe crap, now I have to save some serious moola for braces and oral surgery!" Boo! No biggy. My sibs and I all are average height despite the doc telling my mom, after x-raying my brother's hands, that he would only be 5'1" tops. He's 5'10". So you never really know which things will show up because all three of us have different "symptoms". It's a trip to see pics of your daughter because we so rarely see anyone who has our same features!

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  11. That is too funny! Yes, in the big grand scheme of things, CCD is not the worst thing you could be born with. I always tell my daughter that if she's going to have children she needs to marry a dentist. I'm glad you like my surf paintings! :)

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  12. Hi.I am from India ..glad to see your blog and wondered that someone is out there who enjoys the CCD like me. I have been living with it all my life (now 27) and diagnosed some 15 years ago as non-hereditary occurrence . Like your daughter I am perfectly normal working as an Engineer except I had to undergo a prolonged dental treatment for about 6 years and still have to do its Repairs and Maintenance.I was told I would grow "dwarf" . But fortunately it turned for good only, I am now 5'5" tall. Like you mentioned ,it is so rare that I was only case in our state of 10 Million people. Docs advised me very costly genetic treatments but I m not sure about its possible outcome and probability of passing it on to next gen. I will be very glad to hear more from you. All the best !

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  13. Thank you for sharing your story! I am sure my daughter would love to read this and learn more about your situation. Are you on Facebook?

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  14. I'm so glad to read your story! Your daughter is absolutely beautiful!
    I was recently diagnosed with Ehlers-Danlos (a genetic disorder that effects connective tissue and cartilage development), and I'm currently taking a Molecular Genetics class, so I've been doing a lot of research on genetic disorders. As I'm sure you know, CCD is a defect in the "runt" gene in humans; the RUNX2 gene, specifically. It's generally autosomal dominant, but so is Ehlers-Danlos, and just like your family, nobody in my family has the same issues I do. When the body is developing in the womb, the replication of genetic information is rapid, and can sometimes induce errors. This can be just a natural replication mistake, a transposable element that wiggled its way in, or from a mutagen (like x-rays).

    Just as Tiger brought up, when you're diagnosed with a genetic disorder, you worry about the probability of passing it to your offspring. In the case of CCD, it's a 50% chance because each affected individual has 2 copies of the gene. One copy is "bad" and the other copy is "good." Should the individual have a child, they have a 50% chance of giving the child the "bad" copy.

    Like your daughter, I'm really short, too. Ehlers-Danlos tends to make people shorter. I'm only 4'9", while my family members are all 5 or more inches taller than me. LOL It makes it really hard to reach things on the top shelves of cabinets! :)

    I'm so very glad to hear that you all are doing great in life, given your circumstances. I'm so proud of each of you! As for Blah-dee-blah, I'm so glad to hear how great of a mother you are. You're educated on the condition, you're supportive, and you encourage your child to live a normal life. THAT alone takes courage beyond imagination. You should be very proud of yourself for making such a beautiful daughter who is so strong.

    Many blessings to you all!

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  15. I loved your blog my daughter tagged me in because she is almost 30 and she has CCD she was in and out of the children's hospital for the first two years of her life. Finally her doctor called me up and asked me to bring her in and I did and the week before another women brought her daughter in and he linked the two of them because of the facial features and shortness, My daughter was actually 6 week premature and had very little active growth hormones which just made the CCD worst because we already new she was very petite. She weighed 4.9 and was only 12 in long at birth. They started her on growth hormones when she was about 6 yrs. old so she did grow to be 4.8 my daughter had her son almost 5 yrs. ago and they started measuring him in by ultra sounds but he is not showing in signs of CCD and now she just told me she is pregnant again so she knows there is a 50% chance of having a CCD baby but we will take it one day at a time. My family passes my grandfather was only 5 2, my mother is only 4 9, I am only 4 11, and my brother was 5 4, it is really funny because we just thought we were short did not find out that it was CCD until my daughter because she had the large head and her soft spot did not close until she was close to 6 yrs. old. Thank you so much for this blog.

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  16. Sonja, what an amazing story! I'm so glad that you found my blog, and that you can compare stories with what my daughter has been through, and some of the similarities between CCD kiddos! It is so rare, but it is nice to know that you are not alone :)

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  17. Danielle, I am so glad that you are doing ok (minus the high kitchen cabinet thing! ;) I am glad that you found my blog helpful, and thank you for your sweet words :)

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  19. this inspires me, because i also have CCD and to know that others are living normal just like me just is awesome! Being with so many doctors, its kind of just a pain in the butt!

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  20. Hi..My name is Yahima Brotons. I also have a daughter who has CCD. We live in Florida. She's 14 years old and I've been finding it so difficult to find a orthodontist for her. If you know of any organization that would be willing to help me out please let me know. Thank you so much!

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  21. Hello, glad I found your blog while doing some pregnancy research, nice to connect with others who actually understand CCD. I'm 33 and have CCD and just wanted to pass on some experience I have learned on this journey that doesn't seem to be common knowledge in all the websites .. or not emphasized enough. Just let your daughter know that she may run into bone density issues and should manage her calcium and bones seriously. I had a bone density test a couple years ago and found out that I surprisingly have osteopenia, the stage before osteoporosis. Just wanted to pass that along, thanks for the beautiful blog :)

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  22. Hi from London UK. Ccd run x2 mother here. My 9 yr old boy has had several operations and awaiting more. Would love to keep in contact

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  23. I was rather happy to see this blog as my son was diagnosed with CCD 41 years ago and was closely followed through what was then, Crippled Children's in Tempe AZ. He received services and was a research participant until the age of 18.
    At this stage of the game, I should be curled up on a couch, eating bonbons, and administering bengay, but instead I am now raising his five children, four of which have varying degrees of cliedocrainal dysostosis. My days are spent hauling kids to doctors, therapy, counselors, and activities such as Karate and swimming to build upper body strength. Although the hearing, orthopedic, fine and gross motor skills, and sinuses are issues, for both my son and his children, the dental, teasing, and the list of things they shouldn't do have been the hardest for them. In terms of the dental, things have changed quite a bit over the years whereas surgery was recommended to alien the jaw and improve the facial contour, this is now being achieved with spacer bars, braces, and head gear at a much younger age. The children receive services through Children's Rehabilitation Services and were also referred to Barrows Facial Cranial Team, both in Phoenix AZ. Dr Glick is part of this team and is the periodontist who works with all types of deformities. I noticed that someone was trying to find an orthodontist in an earlier post and I would suggest looking for someone specializing in cleft pallet.
    The one thing these kids are missing is a place to find each other. No matter how many specialist offices we visit, the kids never see anyone in the waiting rooms that are just like them. Our kids are not exactly standing alone as there are four siblings in our home, but I realized the need for them to know that there are others out there with CCD when the pediatrician show the kids that there was a young man on a Netflix series called Stranger Things (Gaten Matarazzo) whose real life condition has been written into his script. The kids were so excited to see that he looked like he could have been their brother that they tried to reach out to him via Facebook, but never received a reply.
    Margaret Quintero
    Apache Junction, AZ

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    1. My son and I have CCD and I could relate to many things you said. We both have never met anyone else with this condition and the idea of organizing a CCD meet up so our children could meet other children with the same condition.

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    2. A social worker from Childrens Rehabilitation Services suggested looking on ccakids.com and watching for their summer retreats. They hold them yearly and alternate between east and west. This year it is the eastern U.S. She said that we could make a plan to attend the same retreat thus having our CCD kids meet each other. The site also has listings for possible funding assistance in each state.

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  24. So glad you wrote this. Blogs like yours and the CCD Facebook group are so helpful! Didn't have this 26 years ago when my daughter was born.

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