Why Is Your Rare Disease So Hard to Diagnose? Meet The Lucky and the Unlucky

August 15, 2015

If you have a diagnoses for a rare disease, you are unluckily lucky.

Obviously lucky, to have a name of the disease that you have.

Hopefully lucky enough to have a treatment, or if not a treatment, at least a clinical trial in a phase that you can participate safely in.

You may even have the great fortune of being in the position to be grateful to have a community that can support you and your caregivers on the journey that you are now going on.

This of course again, is if you are unluckily, lucky.

My Dad, who has been down the road of prostate cancer, lung cancer and heart disease is unluckily unlucky. The 2 uns’.

In the past few years he started to develop tumors all over his right foot. His big toe doubled in size. The tumors started spreading up both  his legs . Now each batch of tumors erupt from a rash. Doctors have tried a drug for leprosy to treat it. That didn’t work. He has been to the oncologist,  podiatrist,  hematologist, orthopedist, dermatologist…. You know , the normal route to discovery on the rare disease journey. The  Doctor at University of Miami, practically giggled with glee when he had the chance to see this anomaly that my father has become. And as the days pass, and no one can treat this, he is given percocets and hydrocodone to help him as the tumors grow and hit nerves randomly.

Random tumors have left my dad in a unlucky state.

Random tumors have left my dad in a unlucky state.

There is this world where over 7000 diseases exist that very few scientists are working on. One out of every ten people are sitting in this world wondering and waiting when their cure or treatment will come. Countless are sitting in the universe where my father is dwelling , drugged up and isolated in a no mans land called “undiagnosed.” A pioneer in an illness with no name.

We have so much information with gene sequencing that is available  today. I am trying to understand the logic of insurance companies that do not cover it as standard of care. If a patient has been to the doctor over five times for the same ailment with no answers and dozens of inconclusive tests, its time to bring in the big guns. What would it take to cover these tests and save money in the long run? Whats it going to take to change this situation so people that are stranded can have another possibility?

No, really, I’m asking–Who do we need to speak with to change this?


By Carri Levy

Carri Levy is the Senior Health Producer for National Morning Talk Shows, Behind the Mystery & The Balancing Act. Connect with her here on LinkedIn.

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