Telephone Support Group for Hermansky-Pudlak Syndrome

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Today we are featuring another telephone support group provided by the Lighthouse Guild's NAPVI program.

My name is Lilly Jackanin. I am the Group Facilitator for a Parent Tele-Support Group for parents of children afflicted with a condition known as Hermansky-Pudlak Syndrome. I would like to share information about our group that has been established to address this genetic disorder. This condition is highly prevalent on the island of Puerto Rico; however, it has been found in many other countries, including China, the UK, and numerous South American nations.

What is HPS?

Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism and can also cause visual impairment and a platelet dysfunction with prolonged bleeding. In some genetic types of HPS there occurs a lysosomal accumulation of ceroid lipofusion. In other words, there is accumulation in the cells of a substance presently known as “ceroid”; this name is given to this substance because it means “waxlike”. In some individuals with HPS, ceroid accumulation may be associated with inflammatory bowel disease, pulmonary fibrosis, and kidney disease.

The severity of HPS ranges from quite mild with few symptoms to severe and disabling. Since HPS is an autosomal recessive disorder, both parents are carriers of the abnormal gene. To learn more about HPS visit www.hpsnetwork.org/

I would like to invite any parent having a child with HPS to join us in our discussion via telephone. Our groups are conducted in both English and Spanish. These groups enable parents to connect with one another and share thoughts and ideas about how to manage children with this chronic condition. Our Spanish group meets on a weekly basis on Monday evening between 8:30 and 10:00. Our English-speaking group meets on the second Tuesday of every month, also between 8:30 and 10:00 P.M. Whenever possible, we invite guest speakers to take part in our discussion groups and provide us with their knowledge about the topics being discussed.

Please join us on March 4th 5th and 6th for our annual conference at the Uniondale Marriot Hotel. For more information on this even please visit www.hpsnetwork.org.

If you would like to join us, feel free to contact Lighthouse Guild at #212 769-7819 and speak with Susan LaVenture, Executive Director of NAPVI – or you can contact me at liljack@nyc.rr.com. I may also be reached by phone at 718 781-7775.

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