Today I had a long talk with Donna, President of the HPS Network, mostly getting caught up on what’s going on, what projects need priority attention etc. In the midst of preparations for fundraisers, budgets, and preparing for an upcoming trip to Washington to speak to Congressional representatives – Donna happened to mention that a family had called in seeking more information. (I never know who these families are – they’re just “a family”).
The thing that made this particular call miraculous was that they’d been referred for HPS testing by their doctor! And, even more amazing, not because their child was dripping head to toe with mysterious bruises, not because there’d been a minor surgical procedure turned scary because of excessive bleeding and not because their child was doubled over in pain from GI problems – they were referred for testing just because their child has albinism! That’s it! The doctor was actually screening for Hermansky-Pudlak Syndrome “just to be sure to rule it out.” Wow! Who is this amazing doctor??? Who ever they are, they deserve the gold star prize for the day! I’d love to know where this doctor learned about HPS? And how is it that they “get it” about the need to screen – this never happens!!!
To the family the whole thing might have seemed excessive and silly – but if they’d seen the world from our vantage point, they’d know what a gem of a doctor they’ve found! It’s very likely their child will test negative and this whole thing will be just a little irritating blip in their lives – but for us it was a small victory in a big war. And, heaven forbid, should their child test positive, they’ll be able to avoid some of the traumas so many other HPS families have experienced.
The thing that made this particular call miraculous was that they’d been referred for HPS testing by their doctor! And, even more amazing, not because their child was dripping head to toe with mysterious bruises, not because there’d been a minor surgical procedure turned scary because of excessive bleeding and not because their child was doubled over in pain from GI problems – they were referred for testing just because their child has albinism! That’s it! The doctor was actually screening for Hermansky-Pudlak Syndrome “just to be sure to rule it out.” Wow! Who is this amazing doctor??? Who ever they are, they deserve the gold star prize for the day! I’d love to know where this doctor learned about HPS? And how is it that they “get it” about the need to screen – this never happens!!!
To the family the whole thing might have seemed excessive and silly – but if they’d seen the world from our vantage point, they’d know what a gem of a doctor they’ve found! It’s very likely their child will test negative and this whole thing will be just a little irritating blip in their lives – but for us it was a small victory in a big war. And, heaven forbid, should their child test positive, they’ll be able to avoid some of the traumas so many other HPS families have experienced.
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Love,
The Campbell Family