Contact: Donna Appell, President and Founder, HPS Network, (516) 922-4022 or e-mail: dappell@hpsnetwork.org.
Date: Aug. 9, 2010
FOR IMMEDIATE RELEASE
Discovery Health’s “Mystery Diagnosis” will feature one of the most common genetic disorders in the Puerto Rican community
Oyster Bay, NY – The Discovery Health program “Mystery Diagnosis” will feature a rare form of albinism that is one of the most common genetic disorders among people of Puerto Rican background on Aug. 16th. The program documents the diagnosis story of Karen Tillman, a woman with HPS who lives in Greensboro, NC. HPS is frequently not diagnosed until a crisis event occurs – a reality that doesn’t need to happen since testing is relatively simple.
HPS involves albinism; however, the appearance of people with HPS varies widely from a very blonde and light complexion, to dark skin and hair with albinism only affecting the eyes. HPS also causes a bleeding disorder that varies from mild to severe and life threatening. This bleeding disorder is not picked up on standard tests for bleeding done in a physician’s office or emergency room. As a result, trauma or surgery could quickly become life threatening for someone unaware they have HPS.
Some genetic mutations cause other health problems such as a digestive problem very similar to Crohn’s Disease and/or pulmonary fibrosis, a scarring of the lungs that makes it difficult to breathe.
HPS occurs in all ethnic groups all over the world; however, it is most common on the island of Puerto Rice because of a genetic founder’s effect.
The HPS Network, a 501(c)3 organization based in Oyster Bay, N.Y. works to support families affected by HPS, support research and promote awareness.
“We are thrilled that Mystery Diagnosis is featuring a person with HPS” said HPS Network Vice President Heather Kirkwood, “We are hopeful that the exposure will make more people aware of the syndrome and urge more people to be tested.”
Karen Tillman, the patient featured on the program, is not of Puerto Rican heritage; however, she is very active in HPS Network outreach activities. “I was 38 years old before I was diagnosed and went through many scary medical events not knowing I had HPS,” says Tillman, “I agreed to be featured on Mystery Diagnosis in hopes that sharing my story would prevent someone else from having that experience.” Tillman says that now, because she knows she has HPS, she is able to take preventative measures to stay healthier.
The HPS Network has served families with HPS for 17 years. The Network maintains a patient registry, online community and toll-free number patients can access to ask questions and get support. The Network also conducts outreach to increase awareness of the syndrome both in the medical and patient community. It also advocates for, and supports, HPS research.
- 30 -
Date: Aug. 9, 2010
FOR IMMEDIATE RELEASE
Discovery Health’s “Mystery Diagnosis” will feature one of the most common genetic disorders in the Puerto Rican community
Oyster Bay, NY – The Discovery Health program “Mystery Diagnosis” will feature a rare form of albinism that is one of the most common genetic disorders among people of Puerto Rican background on Aug. 16th. The program documents the diagnosis story of Karen Tillman, a woman with HPS who lives in Greensboro, NC. HPS is frequently not diagnosed until a crisis event occurs – a reality that doesn’t need to happen since testing is relatively simple.
HPS involves albinism; however, the appearance of people with HPS varies widely from a very blonde and light complexion, to dark skin and hair with albinism only affecting the eyes. HPS also causes a bleeding disorder that varies from mild to severe and life threatening. This bleeding disorder is not picked up on standard tests for bleeding done in a physician’s office or emergency room. As a result, trauma or surgery could quickly become life threatening for someone unaware they have HPS.
Some genetic mutations cause other health problems such as a digestive problem very similar to Crohn’s Disease and/or pulmonary fibrosis, a scarring of the lungs that makes it difficult to breathe.
HPS occurs in all ethnic groups all over the world; however, it is most common on the island of Puerto Rice because of a genetic founder’s effect.
The HPS Network, a 501(c)3 organization based in Oyster Bay, N.Y. works to support families affected by HPS, support research and promote awareness.
“We are thrilled that Mystery Diagnosis is featuring a person with HPS” said HPS Network Vice President Heather Kirkwood, “We are hopeful that the exposure will make more people aware of the syndrome and urge more people to be tested.”
Karen Tillman, the patient featured on the program, is not of Puerto Rican heritage; however, she is very active in HPS Network outreach activities. “I was 38 years old before I was diagnosed and went through many scary medical events not knowing I had HPS,” says Tillman, “I agreed to be featured on Mystery Diagnosis in hopes that sharing my story would prevent someone else from having that experience.” Tillman says that now, because she knows she has HPS, she is able to take preventative measures to stay healthier.
The HPS Network has served families with HPS for 17 years. The Network maintains a patient registry, online community and toll-free number patients can access to ask questions and get support. The Network also conducts outreach to increase awareness of the syndrome both in the medical and patient community. It also advocates for, and supports, HPS research.
- 30 -
Comments