Medical Help for Our One in a Million

On July 22, 2020, in the middle of this Pandemic, my wife and I were blessed with fraternal twin girls, Alice and Danielle.That day, we were equally blessed by sharp doctors that noticed something a little different about Danielle and even a suspicion on what it might be.  They didn't give us any information at the time, but did suggest we get CAT scans and schedule a visit with a neurologist within the first week or so after her being able to come home -- born at 34 weeks, they spent the first week of life in NICU.

Per doctor's request, we did follow up with the neurologist that they recommended as well as completed a DNA scan to verify their suspicions.  We did not yet have the results back when we saw the Nero, but we did see by then what they had suspected and he agreed that it seemed likely.  Shortly after that (at around 3 weeks old) we got validation that Danielle had a mutation in the RUNX2 gene, resulting in a condition called Cleidocranial Dysplasia, or CCD for short. This disorder affects less than 1 in a million births world-wide.  More, neither her mother or I are carriers and her mutation is spontaneous, which happens only in 2% of those with this condition.


For now, this means that her "soft spot", common with all newborns, instead of being a ~ 2" circle in the top of her head, is instead the vast majority of the top of her skull, from the top of her occipital to just over her eyes and starting about halfway up from her ears -- the skull is simply not there.  Additionally, she has severely stunted or possibly missing clavicles (collar bones).  Later in life the additional challenges will be great: she will have issues with her teeth, require multiple surgeries for her head to infuse a titanium mesh to substitute for missing skull and a high probability of other spurs in various parts of her body, such as extra ribs that do not grow with the others that might need to be removed.

Today she is already wearing a helmet that will help try to shape her head.  Her excessively flat head is not incredibly uncommon in even "normal" infants, but with her it was a special challenge since the softness of her head would not allow for the use of normal helmet materials and causes her more discomfort than what most would have to endure.  More, where most infants usually on need to wear head-shaping helmets for 6-12 weeks or so, Danielle will be in one, for shaping or protection, for the majority of her young life, at least until she can have surgery to reinforce and protect her brain where the absent skull cannot.

Which brings us to where we are today.  We are struggling to not only take care of twin girls who are now just shy of 6 months old as of the time of this writing, but dealing with one that has unusual special needs, including extra out of pocket costs for doctor's visits since Danielle has to see several specialists including Neurology, ENT, Genetic Counseling and Orthopedics, but the massive costs that insurance won't cover including her future dental bills and surgeries, much of which the insurance company considers "cosmetic" so will not pay for at all. So here we are, hat in hand, hoping for yet more blessings.

Thank you for taking the time to read this.  We'll be sure to keep this updated as we progress through her treatments.  I also ask that, if interested, you take the time to read about this disorder.  A great resource is CCD Smiles -- founded by one of the actors from "Stranger Things" who also has the disorder, it's a great resource for finding out about it means to have and live with CCD.