Dreaming of a Cure for Hemophilia

As a child, Dominic Piunno would say his prayers with his mother, Shelly, before bed. Night after night, he would bow his head and pray that doctors would find a cure for bleeding disorders, both for himself and all the other kids living with the same burden.

Born with hemophilia, Dominic’s blood lacks sufficient clotting proteins which prevents it from clotting normally. As a result, he is prone to excessive bleeding, particularly after an injury, bruises easily and has an increased risk of bleeding inside his joints or brain. Hemophilia is a genetic disorder and is quite rare, affecting approximately 1 in 10,000 births. There is no cure for hemophilia; the recommended standard of care is prophylaxis, a regular infusion of concentrated clotting factor.

Today, Dominic is a 15-year-old high school sophomore and has learned to live with his disorder. He and his family still dream of a day he might live without it, but the more attainable goal they hope for is better treatment.

“Despite the risks, Dominic lives a full life and is more active than most kids,” said Shelly who, as a registered nurse, administers Dominic’s frequent infusions.

“He is a born athlete and an avid baseball fan,” added his father, Dominic. “He plays for both his high school team and a traveling league, and plans to pursue baseball in college. His diagnosis has never held him back.”

"A cure may not be at hand right now, but how different would life be if Dominic could take a pill every day instead of an infusion?” asked Shelly. “Only research and awareness will get us there.”

Dominic and his physician, Sanjay P. Ahuja, MD, MSc, MBA, Director, Hemostasis & Thrombosis Center, UH Rainbow Babies & Children’s Hospital, clicked from day one.

“Rainbow has the only Hemophilia Treatment Center in the city of Cleveland and Dr. Ahuja has been Dominic’s doctor for years,” said Shelly. “He’s compassionate and kind. He and his team are amazing partners in this journey and, together, we do everything in our power to make sure Dominic can live the life he wants.”

In December, Dr. Ahuja was named the inaugural appointee to the Piunno Chair and joined a distinguished group of Rainbow Babies & Children’s Foundation Scholars who, like him, hold endowed chairs supported by the Foundation. The position to him is more than an honor. “Dominic is the ideal patient,” said Dr. Ahuja. “I’ve developed a bond with him and his family that I would never trade. I take the responsibility that comes with this chair seriously and hope to make them proud of their investment in me.”

Board certified in pediatrics and hematologyoncology, Dr. Ahuja is a nationally-recognized expert in bleeding and clotting disorders. Currently, he is Primary Investigator on a number of early phase trials for longer-acting clotting factors.

“Prophylaxis is effective in preventing bleeding episodes and can prevent joint damage if started at a young age,” said Dr. Ahuja. “But to be effective, frequent infusions are needed, which is particularly challenging for pediatric patients. Longer-acting concentrates would help sustain the level of clotting factor in the blood for extended lengths of time, requiring less frequent injections. This would greatly improve quality of life. Looking further out, a cure for hemophilia is not far away. We just opened gene therapy clinical trials for hemophilia patients at UH Rainbow in September. We are incredibly excited about the possibilities.” The Piunno Chair will provide Dr. Ahuja a perpetual funding source, helping to advance his work with longer-acting clotting factors as well as another area of interest – a point-of-care device designed for in-home use. Similar in concept to a glucose monitor for patients with diabetes, Dr. Ahuja describes a small, portable device that could potentially check the level of clotting factors in the blood.

“A device like this, combined with longer-acting concentrates, would be a game changer,” said Dr. Ahuja. “Managing bleeding disorders would become easier, less expensive and less stressful. We would have the flexibility to build a treatment plan that allows patients to be active while minimizing joint bleeds and injuries.”

This kind of innovative thinking gives the Piunno family every confidence that their time and efforts have been well spent. “We raised the money and now it’s up to Dr. Ahuja,” said Maria. “We believe he will do something to help patients with all types of bleeding disorders.”