The family that I spoke of in earlier posts wanted to share their story with all of you, and so they’re a mystery no more – they’re Katy and her family! Katy was just diagnosed with Hermansky-Pudlak Syndrome and I’m sure is probably still a bit in shock about it. Katy’s had a rough couple of weeks! But, as you’ll soon learn, she seems to take everything in stride with the help of her faith in God.
Her story, unfortunately, is also all too common when it comes to getting an HPS diagnosis. No one was ever aware Katy had this type of albinism until she started to exhibit symptoms just recently. It’s yet another story that illustrates why we need to advocate for more awareness of HPS in the medical community as well as for screening of children with albinism for HPS.
Katy’s blessed with a wonderful and supportive family and community of friends – all of whom chipped in to help find the diagnosis, find information about HPS, reach out to the HPS Network and in the end get Katy what she needs.
As Katy’s family requested, I’ll share her blog with you. You can read her story at www.katysblog.com. Katy could probably use some words of encouragement from other HPSers – but please know that Katy and her family are already well versed in all that HPS entails and that her doctors are consulting with Dr. Gahl’s team. So, everyone please let Dr. Gahl’s team and Katy’s doctors handle the medical advice, and don’t worry about educating Katy’s family about HPS. I can assure you – they get it and are being very pro-active. What they could probably benefit from most is prayer, positive support, words of encouragement, and from those of us that have been through bowel issues some assurance that it does get better and it can be managed.
Her story, unfortunately, is also all too common when it comes to getting an HPS diagnosis. No one was ever aware Katy had this type of albinism until she started to exhibit symptoms just recently. It’s yet another story that illustrates why we need to advocate for more awareness of HPS in the medical community as well as for screening of children with albinism for HPS.
Katy’s blessed with a wonderful and supportive family and community of friends – all of whom chipped in to help find the diagnosis, find information about HPS, reach out to the HPS Network and in the end get Katy what she needs.
As Katy’s family requested, I’ll share her blog with you. You can read her story at www.katysblog.com. Katy could probably use some words of encouragement from other HPSers – but please know that Katy and her family are already well versed in all that HPS entails and that her doctors are consulting with Dr. Gahl’s team. So, everyone please let Dr. Gahl’s team and Katy’s doctors handle the medical advice, and don’t worry about educating Katy’s family about HPS. I can assure you – they get it and are being very pro-active. What they could probably benefit from most is prayer, positive support, words of encouragement, and from those of us that have been through bowel issues some assurance that it does get better and it can be managed.
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