We Are the Parents of the Undiagnosed

We are the parents of the undiagnosed: the rare, the one-of-a-kind.

We are challenging science, writing the medical books, forging our own paths.

Our challenges may begin in the womb, at birth or many years later. We may remain undiagnosed for a short time, a long time or forever. Even if we get a diagnosis it may be so rare that it adds little to our knowledge.

We know every department of every hospital, we have stayed on every ward; we are welcomed as an old friend each time we visit.

We worry at every new symptom but have become adept at downplaying our problems.

We struggle to access the health, educational and social care services, funding and benefits we need; even simple things like travel insurance are difficult to get. We desperately need co-ordinated care and support; usually it is up to us to coordinate our own care and support.

We are sick of having to list all our symptoms on every form, sick of invasive and non-invasive testing, sick of not being taken seriously at all.

We have no idea what the future holds: will they walk? Will they talk? How long might they live? We must plan for outliving our children and prepare our children to outlive us.

We don’t fit into the usual support groups. We feel we don’t belong anywhere, but together we support each other, and we are thousands more each year. We each have different symptoms; we each face different challenges. We all share the experience, the highs, the lows, the despair and the humor, of being the parents of the undiagnosed.

If you, or someone you love, is one of the undiagnosed, welcome! Be strong in the knowledge that you are unique, you are the expert on your condition.

You can also join us in SWAN UK — the only specialist support in the U.K. for families of children with undiagnosed genetic conditions.

The Mighty is asking the following: Describe your experience of not quite fitting under one specific diagnosis or a label your community identifies with. Check out our Submit a Story page for more about our submission guidelines.

Find this story helpful? Share it with someone you care about.

Related to Undiagnosed

Betsy and her daughter smiling

I’m Afraid to Treat the Symptoms of My Undiagnosed Illness

Are there steps I could take right now, this minute, and this second? Sure. After all, there has been plenty to read. Some elimination diets are heralded to stop inflammation, which is the precursor to any autoimmune disease, and therefore can help stop the progression of the disease. But the next website says if you [...]
Doctor explaining something to patient

To the Doctor Who Didn't Give Me False Hope About My Diagnosis

I waited patiently in a small cubical down a long hallway of the pulmonary clinic. I overheard another patient in the other room. I waited for the crease of light at the bottom of the door to go dark as I waited for a knock on the door. I searched through the outdated “People” and “Good Housekeeping” magazines on [...]
Businessman looking through a magnifying glass to documents

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), [...]
Margaret's son.

Why I Don’t Have to Wait for My Son’s Diagnosis to Become an Advocate

“The quality of your life is in direct proportion to the amount of uncertainty you can comfortably deal with.” —Tony Robbins Margaret’s son, Joseph. When my son’s doctor called me on March 19, 2013 with results to a recent blood test, I wasn’t too shocked to hear that he was anemic. At 18 months old, Joseph had [...]