Broken Femur!

Rebekah has been doing great physically and we had her doing sit to stand with support and standing against a couch with minimal support. My dreams of her walking one day are getting closer and closer!  We've been coordinating with her therapists to maximize efforts to train her body towards this goal - weight shifting, stomping one foot at a time, and learning to use both sides independently. Things were looking good until...

Rebekah with a broken femur, in a half-spica cast (over one leg only and around the hips).

We never thought Rebekah had an issue with her bones! Yet here we are with a broken femur derived from her daily regiment of calf and hamstring stretches. And having a broken femur is not taken lightly. Her break, which occurred about 1/4 of the way from the top of the femur (at groin level), was considered a "trauma fracture". The immediate response is to look for child abuse, so they ordered a bone scan and a vitamin D test to determine if Rebekah has any signs of previous breaks. There were none, of course.  Even a forensic radiologist/pediatrician was called in to look at the "evidence".  The final report was "hypodense and gracile bones" and that it was very probable that this break did occur as reported.

Here is some information about osteoporosis and general statistics.  And here is a good reminder for anyone taking medications, especially our kids whose chromosomal abnormalities often exacerbate the potential side effects of those meds: Don't Take That Drug Without the Right Supplement.

I kept asking the doctors about a bone density test (BMD - Bone Mineral Denisty), but they did not do one because they said the numbers are not accurate for pediatric patients. Bone density tests are special x-rays that measure calcium and minerals.  The most commonly used BMD test is called a DEXA scan. The BMD is reported in terms of a T-score. A normal T-score is anything better than -1, osteopenia starts with a T-score of -1, and osteoporosis starts at -2.5. However, these numbers refer to adults, and there aren't really comparable numbers for toddlers.  According to a conversation with Dr. John C. Carey (Professor, Geneticist, Author of hundreds of medical papers, Medical Advisor for SOFT - Support Organization for Trisomy 18, 13, and Related Disorders, and a great friend/advocate to the trisomy community!), many trisomy 18 kids have been reported to have BMD  T-scores of -3.


So I kept digging for more information. Commonly listed characteristics or health problems of trisomy 18 children include reflux, weak muscle tone, heart defects, kidney defects, neurological issues, among many other things. Even if health is great, diet is great, and bones appear to be developing normally, children who are nonambulatory have weaker bones and lower tone than typical kids. Also, what the lists don't tell you is that there are additional risks associated with the treatment of these health issues. Many of the medications given to address these health issues can affect other parts of the body.  For example, throw in proton pump inhibitor meds for reflux, and guess what... you have a potential recipe for brittle bones!  (In 2011 & 2012, the FDA issues some warnings regarding PPIs and the potential for bone fractures and breaks.) I did not really connect the dots to any of this until we experienced a broken femur and started researching different reasons why trisomy kids' bones seem to break easily.

• http://www.fda.gov/Safety/MedWatch/SafetyInformation/SafetyAlertsforHumanMedicalProducts/ucm213321.htm
• http://www.fda.gov/Drugs/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders/ucm213206.htm
• http://www.aafp.org/online/en/home/publications/news/news-now/clinical-care-research/20100601ppifracture.html

A few days after Rebekah was casted, I spoke with our nursing agency's nurse supervisor about Rebekah's care in the spica cast. She reminded me about changing positions every 2 hours. I remembered reading that in the pamphlet, and figured it was to prevent sores, issues with pressure points, etc. She said to make sure some of those positions are sitting up as best as we can do (which is very difficult since they casted her leg with two angles - one at the hip and one at the knee. Best we can do is about a 45 degree sitting angle.)  Anyway, she told me the positioning change is to PREVENT PNEUMONIA. I didn't realize that. She suggested CPT too. Well, got me thinking... so many of our little ones are prone to pneumonia. I wonder if it is partially because they are lying down too much and not getting moved into different positions? Plus, maybe every little one should get CPT as just general care early on?  

Anyway, I see trends and correlations between all these things! I hope passing along this info helps other families as they face different health issues and risks associated with trisomy 18.