GRAFTON, Mass. — When Athena was 4 years old and in day care, she started to walk on her toes. Then a year later she began to fall down — a lot.
Her parents took her to the doctor, which led to more doctors, then specialists around the country. Athena was probed, scanned and jabbed with needles. No one knew for sure what to make of this bright girl with black hair and a passion for Adele's music. In the beginning Cerebral palsy was their best guess.
Finally, after three years, an accurate diagnosis was made.
Athena has severe DPD deficiency, a rare disorder caused by an inherited genetic mutation. Today, the 8-year-old has lost motor function and needs a wheelchair and an aide when she goes to school. Later in life she might experience epileptic-type seizures, developmental delays and growth retardation. No one knows for sure.
Only 72 children in the world are known to have the severe form of the condition, so medical research was nonexistent — until now. Athena’s father, Paul Ignatius, is in a race against time to raise $350,000 over three years to save Athena and, potentially, others.
He and his wife, Shibi Karukappily, have borrowed $100,000 on their home to fund the first year of research with two pharmaceutical companies: ProCrysta Biologix, Inc. based in Natick, and a small pharmaceutical company in New Jersey that, hopefully, will produce a drug.
Ignatius also started the DPD Deficiency Foundation, which has raised an additional $50,000 in donations and increased awareness about the rare condition. But he will need $124,000 in years one and two for research then the balance for year three.
Ignatius is optimistic that research on lab animals will begin next year, then on humans in two years.
During his quest, Ignatius discovered that finding a cure might help certain cancer patients. Even though severe DPD deficiency is extremely rare, almost 10 percent of adults possess the genetic mutation. It causes a deficiency of the enzyme dihydropyrimidine dehydrogenase, or DPD. Most people who have the condition show no symptoms, but when they take certain chemotherapy drugs to battle cancer, they can have a severe toxic reaction that can be fatal.
Ignatius knows the clock is ticking. Athena lost the use of her legs last summer, and doctors told him the condition could worsen, perhaps to the point where it could kill her if her lungs collapse. Fortunately, for now, she has no developmental delays, but her father said her condition is worse today than it has ever been.