Underdiagnosed? Fight For a More Complete Diagnosis

April 27, 2023

by Effie Parks

Note: this article first appeared on Global Genes’ RARE Portal

You or a loved one has been diagnosed with Autism. Cerebral Palsy. Epilepsy. Before this, all you had was a list of symptoms. Now, the veil is removed and you are able to see the picture a little clearer. You are grounded by a category of symptoms instead of floating in a scatterplot of unconnected data. No doubt, this is a forward step. However, for most families this should not be the only step. We now know that a good portion of patients in these umbrella categories actually have a more specific diagnosis. Families need to keep digging for these more specific diagnoses as they provide access to more informed medical care, a community that fully understands what your family is going through, and the opportunity to be part of big impacts.

Stories I have from families who kept digging when they were given an umbrella/descriptive diagnosis fill my inbox. They kept looking and they found the accurate diagnosis. They found their people. There are established and mighty patient advocacy groups who provide resources and who fund research to help find and create therapies for these disorders. They provide community for families to relate with, bounce ideas off of, brainstorm home hacks to best take care of their kids with, share drug side effects on how the heck to get their kids to sleep at night with. The experience of the everyday existence of a rare family isn’t as visible all the time. You don’t think about things such as how it dictates the kind of house you can live in, the one and only kind of car you will be driving, which cabinets in the kitchen don’t have dishes in them but are instead stuffed full of medical supplies. Here are some examples:

 “We have believed that for three years our baby was born and suffered a Hie Event – we then went on to fall pregnant with our second and were assured by the hospital that our daughter’s condition was due to lack of oxygen at birth – diving into her diagnosis ourselves we contacted a geneticist who requested her files from the hospital, all along was a file sitting there, unopened and it was the results from her genetics taken in the NICU. It turns out she has KCNQ2. The geneticist then went on to tell us that if someone would have looked at her MRI from a point of genetics we would have seen it wasn’t a hypoxic event it was actually genetics. Turns out there could have been a big chance that our second daughter could have been exactly the same.”

“We were lucky that the neurologist that we went to for a second opinion recognized the symptoms as being linked to neurotransmitter dysfunctions and not just cerebral palsy. The neurologists suggested that we do a lumbar puncture and then if the results came back supporting her hypothesis, we could run the genetic test for it. Being the mama bear that I am, I asked why we didn’t just run the genetic test first, instead of doing an invasive procedure on a 20 month old. Since I resisted, she agreed to only do the genetic testing and 4 months later we had a diagnosis. Had we accepted the CP diagnosis, I wouldn’t know that there is a high probability that my daughter will die in late childhood.”

“My daughter had a stroke (brain hemorrhage) in the NICU. Early on she was diagnosed with Ataxic Cerebral Palsy and failure to thrive. Our diagnostic odyssey lasted seven years. When she was age 7 I finally got the phone call from neurology that she wasn’t just “recovering from a stroke” – she had a deletion of 40 genes – three of those genes were causing her medical issues. STXBP1 and SPTAN1 both cause hard-to-treat epilepsy, global delays, movement disorder, tremors/ataxia, etc… Her deletion of the ENG gene causes a vascular/bleeding disorder called HHT (Hereditary Hemorrhagic Telangiectasia).”

“His scans were clear. We were being told he has CP and that CP falls into “two buckets” – the bucket with a clear injury to the brain and the bucket our son fell into that was a clinical diagnosis based on symptoms. Luckily, his neurologist disagreed and searched for further answers. He was diagnosed with KIF1A. While many of the symptoms of CP are similar to those of KIF1A, this is a neurodegenerative disorder with a progressive course, unlike the stagnant nature of CP. Without this diagnosis, we’d never truly know the nuisances of his disease and we could have chosen surgeries, treatments, or interventions based on a diagnosis of CP that would be detrimental to his long-term prognosis. Thank God our neurologist knew to push and get genetic testing.”

In the end these stories are mostly victorious. They got the answer and they could now set out with an even clearer picture and do something about it. They have an idea of family planning and the future. But I think about those families who don’t know they can and should seek out genetic testing. If you spend any time scrolling in disability or cerebral palsy Facebook groups, you will see how lost so many of these families are. How they think they have “done all the tests” but when asked don’t know which one they had and that they most likely had a simple one off panel.

I urge anyone with an umbrella diagnosis to consider that you may be underdiagnosed and to get a genetic test and get an accurate diagnosis and to not simply be thrown in this bucket. You deserve to find where you fit. You deserve to get the most individualized medical care possible, to contribute to research and to find the families that KNOW your disease. Don’t be tossed in a bucket and don’t stand under the umbrella. Keep digging.

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Effie Parks is a RARE Parent to Ford, hosts the Once Upon A Gene Podcast, and is the Community Engagement Coordinator at Global Genes.

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