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.

3 thoughts on “Why Is Your Rare Disease So Hard to Diagnose? Meet The Lucky and the Unlucky”

  1. Robyn johansen says:

    I was so sick for 6yrs but my doctors were not even thinking that i had hypercalcemia and a benign tumor growing on my parathyroid instead i was tested for 11 months for cancers i did not have my gp didnt even think i was sick my hair was falling out my memory was so bad i stopped driving shopping i couldnt even say the word tomatoe in the supermarket i was so sick i evetually collapsed and went hospital where they diagnosed my illness

  2. paul says:

    No family wants to discover that they are at risk from a serious, possibly life limiting disease. For those who do find themselves in this situation there is an urgent need to be able to access information in order to understand what has happened, and to be able to plan for a future which may be radically different. It
    can be difficult enough to come to terms with the knowledge that there is a relatively common, chronic condition in your family. So if your condition is rare then this can be made much harder because of difficulties in getting an accurate diagnosis and then securing the help and support needed to understand and manage the condition affecting you, your child or a member of your family.

  3. Lori Scott says:

    Thank you for this post. Many of us out here with loved ones in the wait.

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