Reese just turned 2 on June 14, 2006. She is the youngest of our three children (Riley 6 & Ryan 3).

We started getting worried about Reese last year when she did not walk after she turned 1. She never was able to put her heels down to the ground. She was like a little ballerina. She could pull herself up and cruise a little, but never took off on her own.

We were referred to a pediatric orthopedic and neurologist and was diagnosed with Idiopathic Toe walking. She was casted at first. Then was braced. Eventually after Christmas, she stopped pulling up and standing. Finally when all else failed, we were referred to Early Intervention.

It was the evaluation team from Early Intervention that referred us to DuPont Children's Hospital 2 months ago.

There they diagnosed her with Diapolegic Cerebral Palsy and ordered an MRI.

The MRI showed signs of white matter changes and she was ordered a second MRI with contrast and blood work.

On September 1, 2006, we were told she has MLD.

(MLD) Metachromatic Leukodystrophy is a rare genetic disease. She is missing an enzyme (ASA). Without this enzyme sulfatides (fatty substance) will build up. When there is too much fatty substance, the myelin shaft is destroyed. Think of the myelin shaft like a electrical wire. The outside coating of the wire holds the electrical signals. Without it, the signals can not get to the proper destination.