One of the most frustrating parts of having a rare disease is getting the dang diagnosis in the first place.

We’ve all heard the garbage excuses before:

• “It’s all in your head.”
• “You might need to see a psychiatrist.”
• “Are you just looking for drugs?”
• “Your blood work is fine. There’s nothing wrong with you.”

Suddenly, it seems like your body has conspired with your doctors on a long term gaslighting campaign! You start to think maybe it is all in your head, maybe you don’t feel that bad, maybe it’s just nothing…

Unfortunately, so many rare diseases are incredibly difficult to diagnose. They are often the “last resort” diagnoses, or the ones that your doctor’s give you “if that will make you feel better” while refusing to acknowledge that that’s what you actually have.

Doctors like tests that can concretely confirm or deny that you have disease X, but many autoimmune and autoinflammatory diseases don’t work like that. Sure, a fair number of them have a genetic component, so that’s one way to predict if these particular disease in your future.

But what about the mutants? The people who have no family history of a particular illness, but their bodies create a sudden change in gene expression?

Enter this scientist and researcher from Oklahoma. While his current claim to fame is partnering with a small India man to run a clinical trial on an herbal ointment for certain skin conditions like psoriasis.

While essential oils and being “natural” has become a popular life style, many herbal remedies have been known for years to be effective. But this is the first time a clinical trial has been used to prove it.

By that’s not the only reason this man is worthy of your notice.

He was also part of the NIH team that created a method for the gene sequencing of people with Familial Mediterranean Fever (FMF).

This method helped scientists and doctors get an accurate diagnosis of FMF earlier in the progression of the disease. Deaths from FMF rise significantly if the person is not quickly put on treatment.

Not only that, he also studied over 20,000 parameters which exist withing blood to find a set of parameters which could help diagnosis autoimmuune and autoinflammatory conditions.

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