Wednesday, December 20, 2006

Madison: ever changing love story




Those of you who know and love my sweet santa gal deserve a christmas update.
Madi was supposed to have The Big surgery on Dec. 28th...leaving town on 12/26. The Big Guy works in mysterious ways; her surgery was postponed last Friday because her General Surgeon would not be available.
All along, Madi has had "skin issues". Born with burn marks; cracked feet and hands, etc. Still, the scoliosis was most life threatening and thus received our greatest attention.
Until now. Mama-Me, always the inquisitive person, couldn't rest. What's up with the staph infections; cracked feet; incisions that won't heal???
Our last visit to Children's of Pitt. started me searching. I was approached by another mom who handed me a slip of paper for a parent support group for "kids like ours". Expecting a scoliosis site, I was shocked by a word never used in relation to Madi before: Ichthyosis.
She read my face and filled me in briefly; kids born with "scaly skin"...painful skin issues; easy infections. Ding ding ding.
I checked out some websites, concluded this was PART of Madi's story, but once again got caught up in her BACK pain and problems.
Well...here we are with a new hole in our incision. Madi is tired and "not herself". Has diarreah that is unexplained, fevers, ear pain. Me? Pretty much, terrified.
So, back to the internet I go. Browsing the scalyskin.org website, I start reviewing the subdivisions of ichthyosis. I note many types that have some symptoms that Madi has...then...Conradi Hunermann Syndrome. EVERY symptom matches Madi. She is a text book case. A genetic skin disorder caused by one extra X chromosome.
Cataracts; ear infections/hearing loss; hip dysplasia; high forehead; misshapen feet; cracked and sore skin; easily infected with disease and difficult to overcome any infections.
After a great deal of crying, anger and all around terror, the last twenty four hours has me focused and fighting.
With the help of Madi's Pitt. team and local Pediatrician, we are making every appointment under the sun in Syracuse asap...dermotologist, pulmonoligist, review with eye specialist; ENT; visit to her hip specialist.
Here's the thing; we have been gambling every time she has had one of her twenty six surgeries. Conradi Hunermann patients must ALWAYS be on a low dose antibiotic to help fight infection. They must be on HIGH doses prior to any medically invasive procedure. They lose muscle in the heart easily and lung function easily. They canNOT fight any infection.
So. We are incredibly lucky she is still with us.
This Christmas, that is all I will celebrate.
Everything else just doesn't seem to matter much right now.
-R