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Why We Continue to Fight for Our CHAMP1 'Champs'

After searching for answers for seven years, we finally a diagnosis. I truly appreciate what living as undiagnosed means for a family. However, I want to let people know that even when you get that diagnosis — especially an ultra rare one — it doesn’t stop there. We are one of only 41 families (that we know of) with a child affected with a de novo mutation of the CHAMP1 gene.

the author's son smiling

We no longer live in the world of being undiagnosed, and for that I am truly grateful. We have our support network, those who were there before our diagnosis and remain beside us on our new journey. We now have all of our other “CHAMP” families who are walking on the same path as us, our champions guiding the way. With the diagnosis comes a whole new set of questions that unfortunately don’t have many answers. So we continue on our new journey doing the best we can with the information we have.

We continue to fight — fight for services our children need and deserve. But as always, I ask myself, “Why? Why is it always a fight with the professionals for us to get what our children need?” I have a meeting next week to ask (again) why my nonverbal child doesn’t receive speech therapy. He uses an AAC device which, again, I had to fight for him to try. He uses this device well, however technology shouldn’t be the only answer. He uses some of his own versions of makaton (a language program). This allows him to have some words, though not many, and not all are clear. As the years have passed, he has added more sounds/words to his vocabulary (no thanks to any therapist I’d like to add). A short while after he was given his AAC device, he was discharged from a service that should have continued to support us. We were told he wasn’t completely discharged and we could always ask to be reassessed. I’ve had several discussions with them and have asked for this to be looked at again. I didn’t get the outcome I wanted. I have yet again another meeting and this time I’m not taking no for an answer.

We are told we are now the “experts” on this diagnosis by our geneticist, as we have our support group. We hold the knowledge within our “CHAMP” community and we are seeing progress with the right intervention. They say knowledge is power, and in a world of so many unknowns, we know our kids inside and out and we need to be heard. Listen when we tell you that we know what they need.

So, although they are true champs, the fight still goes on.

the author and her son smiling

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