Rare Disease Day

February 29th is Rare Disease Day! Five Percent of the world has a rare disease of some kind. We are the zebras, so to speak. There is a saying in the medical community that says when you hear hoofbeats think horses not zebras. This tells the professionals think of the “normal” patient, course of treatment, etc. Those of us with a rare disease do not fall under the normal realm. So we are given the term Zebra. It is important to understand what this means given your, your friend, or your family member’s illness.

The rare disease that I have is called a primary immunodeficiency. This means that I was born without part of my immune system. Particulary the part that protects the sinsuses, lungs, ears, and digestive system. There are over 350 different kinds of Immunodeficiencies. So these chronic illnesses can rang in severity from people living their entire lives not seeing any side effects. On the other hand it can be severe enough people end up on disability and their lives are completely changed.

It is sad to say that many people, however, have to live many years without a diagnosis. This can be due to many factors including the not fully understanding the warning signs of the disease. The main warning sign is the inability to recover from “simple” infections such as ear or sinus infections. This was the biggest red flag for me before I received a diagnosis. I was in the doctor’s office every six to eight weeks for most of my childhood for either a sinus infection or bronchitis. It was very difficult to constantly feel sick. When someone has that many infections it means they are not responding to antibiotics. If someone has chronic infections, it can leave them susceptible to other illnesses as well.

What Does Diagnosis Look Like?

Diagnosis can look a bit easier for those that have a family member with Immunodeficiency. Certain ones are hereditary or passed down through family members. Typically, to try to find out if someone has it requires a “Vaccine Challenge.” This means the doctors test the person’s immune system, to see if it responds.

Treatment for These Rare Diseases

Finally, Treatment can look different depending on what type of “PI” it is. For some, it is taking antibiotics every day to keep them from getting sick. Others, it looks like taking a product that is part blood plasma. This is to replace the important things they do not make in their own body. As well as taking rest when they need it, and good handwashing.

I hope this has provided some insight into just a small part of the many rare diseases that some people have. For any more information about Primary Immunodeficiencies: https://primaryimmune.org/ or http://www.info4pi.org/

~All the love