TOPEKA, Kan. (KSNT) — April 6 is Hermansky Pudlak Syndrome Awareness Day, and you may be asking yourself what that is.
Bethany Walter and her family are raising awareness about the rare disease that has hit close to home, after her son, William, was diagnosed with the syndrome.
William Walter is almost one year old and is doing things most kids do at his age. But, he is different from others, starting with the fact that he’s living with a rare disease.
“In the first week, we noticed that his pupil in his right eye is not centered,” Bethany Walter said.
Of course, she became concerned about his eyes. So she and her husband took him to the doctor, but they weren’t getting the answers they needed, mostly because doctors didn’t know what the problem was.
“Through genetics, we learned he has a rare genetic disorder called Hermansky Pudlak Syndrome (HPS),” Walter said.
The HPS Network states it is a, “genetic metabolic disorder, characterized by albinism, visual impairment and a platelet dysfunction that results in prolonged bleeding.”
“It’s not anything as severe as hemophilia would be,” she said. “But, when he bleeds, he bleeds longer. If he were to have surgery or a major accident, we would have to give him platelets to help him stop the bleeding.”
It’s also an autosomal recessive disorder, meaning both parents are carriers. On top of that, people with William’s type of HPS will have pulmonary fibrosis. This is a lung disease that happens when lung tissue becomes damaged and scarred, which could lead to a double lung transplant for William as an adult.
Only one in 500,000 to one million people in the world have it. William being one in a million.
“It’s hard to think of your child as really having something truly wrong because his personality is perfect,” she said.
As William makes his big milestones ahead of his one year, his family waits as more research is being done on Hermansky Pudlak Syndrome, not letting it take over this baby’s life and future.
Bethany Walter has been working closely with the Hermansky Pudlak Syndrome Network in raising money for awareness of the syndrome. There are ways you can help as well, and you can even donate in William’s name.