Enzyme Replacement Therapy helped our daughter be more comfortable.
Parents of a little girl with Gaucher Type 2 talk about how her doctor explained that ERT couldn't save their daughter but would likely help her be more comfortable with no drawbacks. As quality of life was the goal, they elected ERT to reduce the size of her liver and spleen and the infusions were not a big deal.
Sanfilippo/MPS: We hoped she would live to see a cure.
The mom of a child with Sanfilippo describes how they thought about experimental trials -- Our goal was always quality of life, but if this prolonged her life by some years, then that would give more opportunity for a cure to be available. Her decline had been so slow. Eventually we probably realized it wasn't coming in time but there was always that hope.
When your child is in an experimental clinical trial ….
The mother and father of a 5-year old with Leigh's Disease, a mitochondrial condition, talk about how their daughter's positive response to an experimental study drug means she has more time but they don't know how much or what to expect. "When she gets sick, we don't know if this is going to be the one."
Finding an experimental trial, study drug.
The mother and father of a 5-year old with Leigh's Disease, a mitochondrial condition, talk about they did loads of research online, on their own, including Google Alerts, and learned about an experimental trial. "We had to educate ourselves in order to provide the best for our child."