4 Reasons I'm Pursuing a Rare Disease Diagnosis for My Child


Having an undiagnosed genetic condition sucks. Having a rare disease also sucks. So, why are we pursuing that elusive diagnosis that will ultimately be a rare disease?

We are not daft enough to think that after more than five years of searching, (including two and a half years on a groundbreaking international genetics research program), that a diagnosis will provide our child GG* with a known and understood diagnosis. However, we continue to seek the rare disease — or even genetic mutation that does not yet link to a known disease. There are many reasons why.

1. There is something to write in that small box usually marked “medical condition.” I have tried both “unknown” and “undiagnosed genetic condition,” neither of which satisfy the faceless individual assessing GG’s case. However, there is not room for “three types of epilepsy, low muscle tone, hyper mobility, severe learning disability, squints, misaligned bones, uneven leg length.” And the list goes on.

2. We will have an answer to “what’s wrong?” and “why?” Having an explanation is helpful in social interactions, which would be a start. However, what is even more impactful for us, is that a diagnosis will explain why. It is hoped the “why” will finally remove the never-ending soul searching question of “what did I do wrong?” Did I cause this by eating that piece of blue cheese before I knew I was pregnant? Ridiculous? Maybe, but very real.

3. We have a chance of understanding if this is a hereditary condition. Not for us, I hasten to add. After the arrival of GG’s little brother, we closed that chapter, agreeing we had rolled the dice one last time and been lucky. However, GG has two siblings who will undoubtedly in the future want to consider having a family—knowing if they carry a hereditary condition will be important.

4. Hope. Pure and simple. A rare disease diagnosis would give us hope that in GG’s lifetime there may be a treatment, even a cure. I know I am getting carried away now, but we cling to that hope.

Hats off to all those battling with rare diseases. We do not underestimate the challenges you face in finding and accessing the support you need. However, we do not wish to remain in the undiagnosed camp, and very much hope that one day we will join your ranks. We know we will be welcomed with open arms.

*Names have been changed to protect the author and family’s privacy.

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