On the Rare Disease Conference

By 21st February 2017 One Comment

Every year the University of Notre Dame in Indiana does a two day Rare Disease Conference, and one of the diseases they cover is NKH. Because of a tired Mama daze I missed the research talks (fail!) but I made the family segment which was nice. We video conferenced in from hospice and short spiel about Kai, and we ‘met’ a few other NKH families. Some we knew already, from the facebook group, but it was nice to see them, to hear them, to listen to their stories.

There’s something comforting about being in the company of others with the same rare genetic disorder. Most people won’t get it, they can’t really. NKH is such a beast.

When you’ve watched your child seize every 15 minutes, when you’re fighting doctors over treatment and being told ‘there’s no point because we can’t treat the underlying disorder’ (I might be a bit bitter at that neurologist. I’d like to go back and punch him in the face. In the nicest possible way, of course). When you’re watching your kid in intensive care in essentially a seizure coma… twice… when you’ve done all those things it changes you. It was nice to know there were people who got it. I’d never wish this story on anyone, but I’m very glad we’re not alone on this walk.

There is another NKH conference in the U.K. later this year. I’m so excited to go (assuming, touch wood, the stars all align, and we’re in a position to be able to go). I feel like this is our tribe, they get it. Their babies have been along the same path as ours. It’s just such a comfort to know others truly understand.

In saying that, it’s double edged sword, because when I hear about an NKH kid seizing and in hospital, I really struggle. Especially if it’s one of the kids that are Kai’s age. Because I know. We’ve been there.

Like I said, I’d never wish this on anyone, but selfishly I’m grateful we’re not alone in this.


Join the discussion One Comment

  • Mary Fitzpatrick says:

    We were one of the 3 NKH families in attendance at the ND RDD and it was most awesome to have you and 7 other NKH families video conference in. As you stated, it is so comforting knowing that there are other families out there that TOTALLY GET IT! They have gone through or are going through what you are….not that you wish it on anyone but at least there are others and you are not alone. It is amazing what Notre Dame is doing and the progress they have made in just 16 months! It is great to hear that there will be an upcoming conference in the UK! The more places that are doing research on NKH, the better!

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