Life as a Leach

I apologize for the lack of posting.  But...no news is good news in the medically fragile world!  Abby has been doing SO well and we are thankful for the many improvements to her health.  She had a touch of pneumonia in the beginning of February and stayed at home!  This is huge because pneumonia can be a beast for diseased lungs.  She did her breathing treatments like a champ and hung in there just fine.  The last few weeks, her school has been pretty germy.  We kept her out for a week and a half to protect her while the flu made its rounds.  Everything is looking much better now though, so she happily went back on Tuesday.  While she is the one of my kids who I could easily home school, she is also the one of my two who simply loves being around people! Today is Rare Disease Day, and I wanted to share what I have been posting on Facebook with you all here. Cerebrocostomandibular Syndrome, Abby’s primary diagnosis, is extremely rare. There are only an estimated 10 children livin

Cerebrocostomandibular Syndrome was the diagnosis given to Abby when she was less than 12 hours old.  We were hoping against hope that the geneticist was wrong, but she wasn't.  Some of you are relatively new to this blog, and it's been a while since I gave a big explanation of her entire complex syndrome.  Continuing with our countdown to #rarediseaseday, I thought it would be good to share the basics.  So what is CCMS? CCMS is an extremely rare inherited disorder with approximately 65 documented cases.  characterized by an abnormally small jaw, a cleft palate, improper positioning of the tongue, and abnormal development of the ribs.  One third of children also have very small heads (microcephaly).  In most cases, such abnormalities contribute to significant respiratory problems during early infancy.   Abby has all of these symptoms.  About half of her ribs are in multiple pieces.  On an xray, it looks like someone took a hammer to her ribs.  These rib gaps have kept her