Posted By Cindy (Paradise, California, United States) on 10/28/2012

The following is a list of her symptoms in everyday language and "doctor speak" :
* Low muscle tone - hypotonia
* Downturned eyes and mouth (the opposite of Down's syndrome) - downward palpebral slant
* Congenital difficulty swallowing / now feeds with a g-tube
* Severely curved spine - scoliotic thoracic curve progression from 30^ to 60^ in less than a year, also mild but progressive lumbar curve
* Has muscle shakes- intention tremors from six months on (since 'cruising'), negative for brain involvement per/EEG at one year
* Learned to walk at 19 months with the aid of a walker and spinal bracing
* MRI at one year showed no chiari malformation or tumors on the spine
* muscle biopsy at two years negative for dystrophies or myopathies
* genetic assay normal, further gene analysis not possible until a precise gene/genes can be pinpointed as a likely cause (suggestions welcomed)

Genny walks, runs, hops and plays. She is strong and does not appear to be nemaline. She attends preschool and rides a bus, a fact she is quite proud of and willing to discuss at length. Her intelligence is low to average according to academic testing. She is able to read some words, knows shapes, counts to twelve and sings her ABC's and many other songs. Naturally, we think she is brilliant.

Her mind seems unaffected, but her body is suffering. Spinal surgery is now unavoidable and will happen soon. We are desperate for an answer.

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