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Siblings by genetics

You might think that having an ultra-rare genetic disorder that has the potential to be life threatening wouldn’t have an up side, but you’d be wrong. Don’t get me wrong. I’d love nothing better than a cure. But, this week I’ve been thinking a lot about how lucky those of us with HPS are to have one another.

I get a lot of calls from fellow HPS’ers and often it isn’t about a medical crisis or the need for information for a new doctor, or even just a need to vent. Often the calls are from one HPS’er whose worried about another HPS friend. These often put me in an odd position. I can’t share anything about how someone is doing without their express consent – and frankly much of the time I don’t know any more than the person calling to ask. For example, a lot of people follow Katy’s blog and call wanting to know if I know how she’s doing. What I know is on the blog, and if I knew anything more I wouldn’t share it anyway. Yet, I’m constantly impressed by how everyone worries and looks out for everyone else.

Another type of call I often get are what I call the “birdie” calls. Someone calls me because they were chatting with a fellow HPS’er and noticed a lot of coughing. They’ll say something like, “I thought I’d mention it to you. Maybe you could call and make sure they’re okay?” Or, “I was talking to so and so yesterday and they just seemed really down. Could you call and check up on them?”

You’d be surprised at the little things HPS’ers notice about each other. A few years ago a new HPS’er came to conference. The person had a cold and was using some inhalers. They were actually quite fine. But, I think I got nine calls from people just to tell me they’d noticed the inhalers and they wanted to make sure that someone had talked to this new person about the need to get pulmonary function tests done.

To some people this sort of observation might seem unnerving or nosy – but I find it quite comforting. It’s always genuine concern for one another. We may not be actual siblings, but we’re, in a sense, genetic siblings. We may be irritated with one another. We may fight or argue or disagree. But at the end of the day we all worry about and pray for one another. We share a unique bond which can be quite powerful sometimes.

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