Living with Hemophilia

Eleven-year-old and his family find ways to help others

By Jeanne Bellezzo

Henry and his family raise funds to help pay for expensive blood-clotting treatments.

For most kids, a tonsillectomy means a day in the hospital and lots of soft food. For Henry Reif and his family, it would change their lives.

Following the procedure, Henry had profuse bleeding and needed emergency surgery. He would then learn to live with a very rare blood disorder – and help other children get the treatment they need. Henry’s tonsillectomy at Rady Children’s Hospital-San Diego in 2010 went perfectly, and his recovery seemed routine – until he began coughing up large amounts of blood six days later. He was immediately rushed back to Rady Children’s, where surgeons cauterized the bleeding site.

Doctors kept the 8-year-old overnight in the Hospital’s Peckham Center for Cancer and Blood Disorders until they were sure the bleeding was under control, and they ran a battery of tests to identify its cause. Three weeks later, test results confirmed that Henry had hemophilia B, a rare form of hemophilia diagnosed in only 3,300 people in the United States.

Managing Hemophilia B

Also known as factor IX deficiency because it is caused by a lack of blood clotting factor IX, hemophilia B hinders the blood’s ability to clot properly, resulting in prolonged bleeding following an injury or surgery, which may be life-threatening. If blood gets into the joints, muscles, brain or internal organs, serious complications may result. In severe cases of hemophilia, heavy bleeding may occur after minor injuries or even spontaneously. Fortunately, Henry was diagnosed with a milder form, which may explain how the active, sports-loving boy made it halfway through childhood without having a bleeding problem.

“It’s funny that it didn’t show up until I was 8,” Henry says. “I never got badly injured before the surgery. I hit my head several times and sprained my ankle, but luckily it was mild enough to not cause a problem.”

“Boys like Henry who have mild hemophilia may have relatively few bleeding symptoms unless they have an injury or surgery,” explains Amy Geddis, M.D. Ph.D., co-director of the Hemophilia/ Thrombosis Research Program at the Peckham Center and an associate clinical professor of pediatrics at UC San Diego. “Since hemophilia is rare, subtle symptoms such as easy bruising or nosebleeds can be overlooked because they are relatively common.”

To avoid injuries, Henry can’t play contact sports like football or hockey, but he’s still quite active. He has been on the swim team at the Boys and Girls Club in Solana Beach and currently plays on the water polo team. He also always wears a helmet when riding his bike or scooter, a safety rule his mother, Tracy Reif Spiegel, requires his friends to follow at her house, as well.

“It’s a good idea for everyone, but it’s much more risky for Henry,” says Tracy. “He needs to be much more cautious with injuries that most kids wouldn’t be concerned about.”

Because Henry’s condition is mild, he does not have to receive the blood-clotting factor as a protective measure. But if he does get injured, he goes to the Hospital right away to get the factor, which is given intravenously. For a severe injury, daily doses might be required.

Giving Back

The treatment is expensive — about $5,000 per 5,000 units of factor, which is typically what Henry receives. Traditional medical insurance doesn’t cover hemophilia as a standard prescription and the cost can be prohibitive, especially for severe cases where patients need prophylactic doses several times a week or more.

Henry and his family saw this as an opportunity to help patients pay for the treatment, and they began raising funds. “Instead of feeling sorry for ourselves, we realized how fortunate we are to be able to afford the treatment and for my case to be mild,” explains Henry. “So we started raising money for people who need the treatment and may not be able to afford it.”

For the past three years, Henry has put together a team for Rady Children’s annual Shamu & You Family Walk in October. Every year, his team has raised the most money: $47,000 in 2011, $42,000 in 2012, and nearly $42,000 in 2013.

In addition, the family participated in the 2011 Holiday of Miracles Radiothon as one of the featured Adopt-A-Families and partnered with the Rancho Santa Fe Auxiliary to support the Peckham Center. The money goes to Henry’s Fund at Rady Children’s to help patients with hemophilia and other blood disorders and funds a hemophilia fellowship in conjunction with UC San Diego.

In July, the Peckham Center unveiled the Henry’s Fund Infusion Suites, and Henry received a Miracle Maker award from Rady Children’s.

“I think it is admirable and impressive that Henry has taken such an active role in helping others with hemophilia,” says Dr. Geddis. “The family has been very generous to the Hospital and to other families.”

Henry adds, “I signed a pledge not too long ago to raise $1 million before I turn 16.” And he’s well on his way. To date, the 11- year-old has raised approximately $665,000 and inspired others to raise funds as well.

“At last year’s walk, a father came over. His son had been hit by a garbage truck on the way home from school,” Henry recalls. “He told me that what I’d said about not feeling sorry for ourselves and my story about raising money inspired him to start a walk team.”

Research to Improve Lives

While some people with mild hemophilia A have the option of using a nasal spray to bring their clotting factor up, the only treatment currently available for hemophilia B must be given intravenously. Most children with severe hemophilia B require preventive treatment with factor IX infusions at least twice weekly.

Researchers are now working on the development of factor IX products that would last longer in the bloodstream, thereby enabling patients to receive less frequent infusions, according to Amy Geddis, M.D., Ph.D., co-director of the Hemophilia/Thrombosis Research Program at Rady Children’s Hospital-San Diego. For example, a child who would typically require injections twice a week might be able to inject only once a week.

In addition, gene therapy holds the promise of turning severe hemophilia into a milder form. Hemophilia B is caused by a defect in the gene for factor IX. In a landmark study published in The New England Journal of Medicine in 2011, researchers found that injecting a properly functioning gene in men who had severe hemophilia B raised their factor IX levels to the point where they no longer needed prophylactic treatments. Studies are ongoing and researchers are also working on a gene therapy to help patients’ blood clot more effectively.

At Rady Children’s, researchers are conducting a treatment study on long-acting factor VIII in hemophilia A patients. The Hemophilia and Thrombosis Treatment Center is also participating in the Centers for Disease Control and Prevention’s American Thrombosis and Hemostasis Network, which is producing standardized data needed to better understand bleeding and blood clotting disorders and improve standards of care.

Originally published in U-T San Diego, October 2013