Living with hemophilia

Living with Hemophilia: Nick’s Story

Nick Carebetta is an active 31 year old.  When he’s not busy managing a restaurant, he’s surfing, running or hiking.  The athlete has completed numerous half marathons and three Spartan races.  To friends and family, he’s the picture of perfect health.  In fact, people may be surprised to know Nick has hemophilia A.

A disease that prevents blood from clotting properly, hemophilia A is caused by a deficiency of a clotting protein called factor VIII.  Nick’s case is considered severe.  Patients like Nick bleed longer after an injury, and may have frequent spontaneous internal bleeding episodes in their joints and muscles.

Diagnosed with the disease when he was 3 months old, Nick experienced several bleeding episodes in his left ankle.  The pain and inflammation impacted his mobility, which left him dependent on crutches for much of his childhood.

When he was 13, he underwent a procedure called radioactive synovectomy. A small amount of Yttrium, a radioactive material, was injected into Nick’s ankle to reduce the number of cells in the joint lining.  This reduction leads to decreased inflammation, and hopefully less pain and more movement.  Yttrium is used due to its low radioactive energy levels and its ability to leave the body quickly. Nick had the procedure performed twice.  About four months after the second injection, Nick’s bleeds stopped; his pain dissipated; and his mobility returned.

Today, Nick manages his disease with help from CHOC Children’s hematology team.  During his annual check-ups, he meets with a physician, physical therapist, psychologist and nurse coordinator.

“I am so impressed with the compassionate and comprehensive care I receive at CHOC.  From the physicians, who are highly regarded in their field, to the psychologists, who care about my mental well-being, the entire team is dedicated to making sure their patients live happy, healthy and fulfilling lives, despite their disease,” says Nick.

Living with hemophilia

There is currently no cure for hemophilia.  Treatment includes clotting factor replacement therapy.  Nick gives himself shots of a clotting factor, called factor VIII, three times a week.  Depending on his level of activity, he may adjust his dose.  He also follows instructions from his CHOC care team to preserve his joint mobility and core muscle strength.  He doesn’t let his treatment or his disease interfere with his life.

“Nick is setting an example for all of our patients that hemophilia does not define who he is.  He chooses to be more,” says Dr. Amit Soni, CHOC hematologist.  “In addition to his active lifestyle, he is passionate about theater and the arts, and is leading the restoration effort of a historic theater.  He’s also incredibly altruistic in his efforts to give back to the community, whether through participating in clinical trials to advance hemophilia care for the next generation to raising money by joining in the CHOC Walk.”

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