Pictured here are Julia and Tommy Molter, two kids with HPS. Their local TV station, WANE News Channel 15, in Fort Wayne, IN did a story on them and their family's HPS fundraiser. They are our superstar fundraisers! The story is below. Two Fort Wayne Children Help Raise Money for Rare Genetic Disorder
May 11, 2006, 06:15 PM
(WANE) Hermansky-Pudlak Syndrome (HPS) is a rare form of albinism affecting only about 300 people in the United States, and two children in Fort Wayne have it.
Albinism causes people to lack pigment in their skin, hair and eyes, but not all people who have albinism have HPS. HPS causes vision impairment, a bleeding disorder and can cause the development of deadly disorders later in life. Namely, some people with HPS can get scarring of the lungs called pulmonary fibrosis.
Julia, 8, and Tommy, 6, both have HPS, and are legally blind, but that’s not stopping them from being fun-loving kids. Julia’s at the top of her class, plays the piano and wants to be a singer. Tommy loves Legos and building things out of clay; all good practice because he wants to be a builder when he grows up.
“They are great kids. They have an amazing spirit and nothing can hold them back,” Becky Molter said.
She and her husband, Tim, are both carriers of the recessive mutated gene that causes HPS. When two carriers have children there’s a 25% chance the children will have HPS, a 25% chance the children will be normal, and a 50% chance the children will be carriers.
“That’s one thing we tell parents is that it’s not their fault,” Kevin O’Brien, a Nurse Practitioner for the National Institutes of Health (NIH) said. “There’s no way to know that a person is a carrier.”
Because HPS is so rare, there’s not much doctors can do and there’s no cure. Right now the NIH is working on a three year study to test a new drug for pulmonary fibrosis treatment. That study alone costs about a million dollars and is government-funded, but O’Brien said other doctors and universities run studies and tests in effort to find a cure for HPS.
The Molter family hopes with more research, a solution can come along, and to help fund it, they are working with the HPS Network and holding a fundraiser Friday, May 12th at the Pine Valley Country Club. Tickets are $60 at the door and everyone is invited to come. There will be gambling with Little Vegas casino, a silent auction, live entertainment, open bar and hors d’oeuvres.
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