Family seeks to help others while coping with daughter's incurable diagnosis
Family tries to help others while coping with daughter's incurable diagnosis
A young family received a heartbreaking diagnosis for their 1-year-old daughter and as they struggle to work through the difficulties of managing treatments, knowing there isn’t a cure, they are trying to help other families facing the same diagnosis.
PHILADELPHIA - A young Philly family received a heartbreaking diagnosis for their 1-year-old daughter and as they struggle to work through the difficulties of managing treatments and appointments, knowing there isn’t a cure, they are trying to help other families facing the same diagnosis.
15-month-old Lucy Campbell is in her second session of physical therapy this week. She also has occupational and speech therapy among other regular developmental milestones. Everyone is hoping Lucy will be able to crawl. She has a neurodegenerative mitochondrial disorder for which there is no cure.
Her mom, Sarah Campbell, stated, "They say 90 percent of children with PDCD don’t make it to their fourth birthday."
After over 100 visits to doctors and specialists over the past year, the Campbell's received a definitive diagnosis of Private Dehydrogenase Complex Deficiency days after Lucy turned one.
"Lucy’s body has a difficult time processing, metabolizing carbohydrates at the cellular level," Sarah said.
There are no pharmaceuticals developed to deal with the rare disorder. Doctors at Children's Hospital of Philadelphia put Lucy on a special measured, ketogenic diet and recommended physical therapies. But the Campbell's know Lucy’s prognosis is not positive. Still they are pursuing research for gene therapies that might be helpful.
Sarah continued, "This isn’t something we see as an effective cure for Lucy, but medicine moves fast and we’d love to be able to make a dent in the game for other families."
As they hold on to hope for Lucy, the Campbell's are trying to raise awareness about a new foundation, started by another family whose child has PDCD.
"It’s one of those diseases where we don’t hear much about because it’s not like breast cancer," Dr. Mike Cirigliano explained. "The bottom line is we need more research. The one resource we have is funding for things like this."
The Campbell's are grateful for all of the doctors at CHOP who’ve helped Lucy. Again, they realize a cure is not around the corner to help Lucy, but would love people to make a donation to the Hope for PDCD Foundation for other children now and in the future. Find more information and a way to make a donation at their website, here.