WASHINGTON (WUSA9) -- Withabetter understanding of the human genome, more treatments are beingcreated to fight rare diseases. A local family is benefiting from these developments and they hope more children can do the same.
7 year-old Anabelle Bozarth is learning how to ride a horse and play the piano. She now participates in many of the activities that most children enjoy. But 2 years ago, that was not the case.
Annabelle's mother Stephanie Bozarth says, "The process started when she was about 4 months old, we noticed some differences in her bones."
She has a rare disease called Morquio A. She is missing an enzyme that is responsible for clearing cellular waste from her body.
Dr. Marshall Summer ofChildren's National Health System says, "It affects a lot of tissue. It affects the skeleton mostly in Morquio's which is why Annabelle's height is a bit smaller than everybody else."
She is enrolled in a clinical trial where she gets enzyme replacement therapy through weekly transfusions. The treatment allows her cells to perform normal functions.
Dr. Summer says, "They are doing things they're supposed to be doing like growing the skeleton and forming bones and joints."
This is considered a golden era or genetic research. Rare diseases like Morquio A were once considered untreatable.
"We have so much information about the human genome. We'restarting to understand things about patients that before we just didn't know," adds Dr. Summer
AnFDA advisory committee is meeting this week to review the treatment for Morquio A. Annabelle's mother, Stephanie, is going to share her families' experience with the treatment. She is hoping that it will eventually be approved.
Stephanie Bozarth says, "Before getting this ERT, Annabelle was going through a downward spiral. She already had several surgeries for surgical decompression, her hips had to be reconstructed. It's giving her a better quality of life. She has the energy to go to school and be a part of that and engage and socialize like kids her age want to do."
Stephanie is a member of the National MPSSociety. An organization that raises funds to go towards research for Murquio syndrome and other rare diseases.