Grafton Man In Hunt To Cure Daughter Of Rare Disorder

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Paul Ignatius and his daughter, Athena. Photo Credit: Richard Price
Photo Credit: Richard Price

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.

For more information, please visit dpddeficiency.com or the DPD Deficiency Facebook page.

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Comments (5)

pappykkuttan:

Often the cancer patients and their families face grave consequences to administration of popular Chemotherapy drugs and do not know what to do. Support group currently fills this void in addition to fostering research.

miller_robbin:

It is also important to seek out support from friends, family, and counselors if needed. Also, to work with several resources such as Family Ties that provide support to parents. I refer parents out who have children with disabilities as part of my counseling responsibilities.

pappykkuttan:

Indeed. any information you can send out about family ties will be a great help

pappykkuttan:

Thank you Mr Price for covering our foundation's mission.

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