Grateful family is a fundraising powerhouse for the UCSF Bone Marrow transplant unit

By Carol Hyman

WHAT: Presentation of $25,000 check to the UCSF Medical Center Bone Marrow
    Transplant Program

WHERE: UCSF Medical Center 505 Parnassus, San Francisco
    Media should come to main entrance to be escorted to the event

WHEN: Friday, April 8, 2005
    11 AM

In 1999, when Ron and Shawna Perkins’ infant was diagnosed with Hurler’s Syndrome, they were told his best hope was a bone marrow transplant.

Affecting one in 100,000 people, Hurler’s syndrome is a rare genetic disorder in which a key enzyme (alpha-L-iduronidase) is missing.  This enzyme normally breaks down storage material in the body, and its absence means the material (known as mucopolysaccharides) builds up in all tissues, causing progressive deterioration and eventual death.

Hurler’s syndrome babies often develop normally during the first year, but as the storage material starts to build up, the symptoms begin to appear. Hurler’s children will, without treatment, experience profound mental retardation, coarse facial features and excessive hair growth, vision problems (due to clouded cornea), and severe heart problems. Most patients die of heart failure between the ages of 5 and 10.

Not wanting this fate for their baby, Ron Perkins organized a golf tournament to raise money for bone marrow testing. Fortunately, the family found a match for Roman, and at 9-months old, he received a transplant.

The family spent eight months at the UCSF Children’s Hospital Bone Marrow Transplant (BMT) Unit.  When Roman was finally released, his physician and head of the UCSF Pediatric BMT program Morton Cowan, MD, declared he no longer suffered the ravages of Hurler’s.

After spending that much time at UCSF, the family wanted to do more for the UCSF Medical Center and Children’s Hospital and other families in the BMT unit, so they made the golf tournament an annual event. One year, they raised money for state-of-the-art computers for every BMT room.

Last year’s tournament, held in October, raised $25,000 for the unit. Shawna, Ron and Roman, who is now a healthy, inquisitive six-year-old, will be at UCSF Medical Center on Friday, April 8 to present a check to Dr. Cowan.

Family members and Dr. Cowan will be available for interviews.