Hope for people suffering rare diseases

Today is rare disease day and I’ve decided to finally write about my illness and also speak up for other sufferers.

4 years ago on the 3rd of May 2015, I started to get

  1. An intense and constant burning pain all over my body and my forearms out of nowhere, accompanied by stinging shooting pains 30-100 times a day
  2. 100-1,000 muscle twitches a day all over my body.
  3. Those symptoms worsen for weeks and months with only mild exercise for a few minutes, constraining me to staying inside the house since it all started. Researching and writing about crypto a few hours a day is pretty much the only thing I can do for that reason

Besides the standard blood tests, I’ve also had

  1. Brain and spine MRI
  2. EMG
  3. Vitamin D, B12
  4. Folic Acid
  5. Lumbar Puncture
  6. CRP

but nothing was abnormal, except elevated S100B and MDA-LDL.

Since then I visited 50 different doctors, who did a few tests and then said I should go home and that I have nothing, because they couldn’t find anything.

This happens to EVERYONE who has a rare disease, which is 4 million people in Germany and around 300 million people worldwide (6-8% of the population). The average time to get a diagnosis is 5-10 years, filled with years of rejection and the occasional harassment from doctors.

Every second doctor will also tell you it’s all in your head and that you probably have a mental illness. A decade ago, mental illnesses were very underemphasized and no one took them seriously. Today, everything is a mental illness and people don’t take physical illnesses seriously if a couple doctors who have done some tests didn’t find anything, ignoring the fact that rare diseases are only diagnosed after dozens of doctor visits on average.

Accompanied by that is that almost everyone around you gives up on you and becomes angry at you that you don’t accept that it’s a mental illness and the ones you care about the most, become the most angry, so you are all on your own.

In the end 70% of people with a rare disease finally get a diagnosis, but until this happens you face constant rejection, accusations, emotional outbursts.

I’ve long struggled to write about this, because of getting shamed for it by many people and I didn’t want to be seen as someone ill, but it’s just not about me, but about all sufferers. Maybe I can help shine a light on this on awareness day.

Maybe in 10 years, rare illnesses are known and understood by the public and doctors as much as mental illnesses. People with rare illnesses are in the same rough spot as people with mental illnesses 20 years ago. Nobody takes you seriously, it’s all your fault and you don’t get any support.

I’m still suffering from the same symptoms and am still looking for a treatment.

If you or someone close to you ever face a rare illness, I hope this posts helps you to keep an overview of the situation and knowing that the person has not changed, is not insane. They just have an illness that cannot be found easily like the 8,000 rare diseases that we currently know of.

This is the point of #rarediseaseday, raising awareness about rare diseases and their numerous stigmas that come with them. Share this post to spread awareness on rare disease day and maybe we find someone who has seen my symptoms before.

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