Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects people from all races and nationalities. The HPS Network is a volunteer, non-profit organization that provides information and support to people with HPS and the medical professionals who treat them. The purpose of this post to help The HPS Network spread the word. Make sure you read all the way to the bottom for a little giveaway.
Imagine you have a beautiful baby. You are starting to suspect that she doesn’t see quite as well as she should. Like most babies learning to move through the world, she’s uncoordinated, but she also appears to have difficulty focusing on people or objects at distance. Her depth perception is off and she frequently bumps into things, perhaps more than the “average” child and she bruises easily.
When you take her for a check up, the doctor notices a bruise on her arm that looks like the imprint of your fingers. You explain she was about to go headlong down a set of stairs and you grabbed her arm to catch her. The next thing you know, Child Protective Services is at your door accusing you of abusing your daughter.
Sounds like an episode of Law and Order no? Sadly, it can be a reality for families of children with Hermansky Pudlak Syndrome (HPS). According to the HPS Network website, HPS is “is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.” People with certain types of HPS, also accumulate a waxy substance in their bowels, and/or their lungs or kidneys. The manifestation of HPS can be mild to debilitating.
Despite my work with albinism advocacy, I had never heard of HPS until my late teens when I met Donna Appell and her beautiful daughter Ashley. Donna is a force to be reckoned with. She founded the HPS Network in 1992 to educate those affected with the condition and the medical community as well as promoting research to improve treatments. She’ll kill me for even mentioning her here because she doesn’t want recognition, she’s too busy spreading the word about HPS, but the advances that have been made in identifying HPS patients, and improving treatments are due in no small part to Donna’s efforts. These days, she has a board of directors and a small but merry band of volunteers to support the efforts of the HPS Network. One of those volunteers is Heather Kirkwood. Aside from being skilled in all things communication and outreach, Heather is also a talented artist and sells some of her works to support the efforts of the HPS Network.
People with HPS albinism all suffer from problems with their blood clotting. It can be minor as in they just bleed a little longer than most, or it can be life altering as in minor dental work can require a hospital stay. I think it is important to note that despite these challenges, people with HPS can lead “normal” lives with simple precautions and connections to medical professionals who understand their special needs.
We take our good health for granted. The minor scrapes and cuts are easily forgotten, but for people with HPS, they can be life threatening. When I was twelve years old, I was out riding my bike with friends when another “friend” jumped in front me. I swerved to avoid her, but lost control of the bike and ended up slamming my head on the bumper of a car parked on the side of the road (these were the days pre-helemet). I don’t have HPS, so it only took five stitches to get me on the mend and back on my bike. How about you? What was your worst or most memorable childhood injury?
The HPS Network has produced as set of notecards featuring one of Heather’s paintings. I have a set of 10 notecards and envelopes to give away. To enter, just leave a comment telling me about your most memorable childhood accident. I will pick a random winner on Friday (12/10).