Living Without a Cure for Gaucher Disease, Stella Grace Remains Happy

Story Hero: Stella Grace
Location: Rochester, NY
RARE Condition: Gaucher disease, type 2
Fewer than 1 in 100,000 are affected by Gaucher disease type 2, a rapidly progressive disease.
Fewer than 1 in 100,000 are affected by Gaucher disease type 2, a rapidly progressive disease.

My daughter, Stella Grace, was diagnosed at five months old with a very rare genetic disease.

She was first noted to have difficulty with her eating and showed some signs of reflux. Her pediatrician had come across a large mass in her abdomen. After several doctor’s appointments and tests, we found out her diagnosis. She had Gaucher disease, type 2.

This disease affects her sucking and swallowing abilities and also her respiratory system. She had to receive a tracheostomy in October 2011 to help her breathe. She can not eat or drink anything by mouth and is currently fed through her central line by TPN (total parental nutrition).

This disease affects her organs, such as her spleen and liver, and it also attacks her brain. Right now there is no cure for this disease. According to the literature, children with her type do not live past age 2.

We can only pray for a miracle for our little girl, and in the meantime we keep her as happy and comfortable as possible.

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