Four-year-old Isabela Corstorphan was diagnosed at four months old with an extremely rare condition of dwarfism called Rhizomelic Chondrodysplasia Punctata or RCDP. RCDP causes growth deficiency, mental deficiency, seizures, stiff and painful joints, respiratory problems, cataracts, heart issues, and other symptoms. The main factor is low levels of plasmalogen, a fatty acid. Isabela was given just a year to live, but she’s fighting those odds.
“You’re very lucky to reach four or five years old,” Isabela’s mother Angelina Corstorphan told 7 News. “So I’m one of the lucky few who’s still got my angel here.”
Isabela is the only child known to have RCDP in Australia, and she’s one of less than 100 known cases in the world. In her four years of life, Isabela has endured over 10 surgeries including spinal surgery and eye surgery. She also undergoes countless tests, speech therapy, occupational and physical therapy, and round the clock care from her devoted mother who refused hospice for her daughter and instead chose to fight for Isabela’s life.
“It was a tough first few months. No one had ever seen this condition before. No one had ever heard of it,” Corstorphan said.
Despite the fact that there is no financial benefit for researchers and pharmaceutical companies to work towards finding a cure since the RCDP population is so small, one scientist, Dr. Nancy Braverman, has worked for decades studying RCDP. She recently convinced a biotech company from Canada, Phenomenome Discoveries, to take part in a clinical trial to increase plasmalogen levels in these children in hopes of improving symptoms and prolonging their lives. The trial is set to begin next year.
Despite her delayed development and the fact that she likely won’t ever sit on her own or learn to walk, Isabela has a beautiful, bright smile. And she loves music.
“I’m sure if she could, if she could stand, she would always be dancing,” said Corstorphan. “If she could talk, she’d always be singing.”