Patient Voice: Join us in making the voice of rare disease heard!!

The last day of February is a day set aside to help raise awareness of rare diseases.* There are nearly 7000 different rare diseases identified, with new disorders being discovered every year.  The largest obstacle a patient of a rare disease must overcome is lack of knowledge, especially with doctors.  It can take years to find a doctor to diagnosis the condition, and even longer to find a treatment.

Funding for research and treatment is limited; the diseases impacting the most people will get the most funding.  However, this leaves many devastating disorders with no funding, education, or treatment.  Rare Disease Awareness Day was created to educate about the diseases, from the people who live with them daily.

I have two rare diseases, Ehlers-Danlos Syndrome (which includes POTS)  as well as Hemicrania Continua.  Ehlers-Danlos Syndrome is a condition affecting the connective tissue of the body. Hypermobility Syndrome and Post Orthostatic Tachycardia are my most debilitating symptoms of Ehlers-Danlos Syndrome.  I have difficulty with my joints, any joint I have ever injured will never heal properly, causing pain in my hips and shoulders daily.

Hemicrania Continua is a primary headache (meaning it is not caused by another disorder) that causes severe pain on one side of the face.  It is a constant pain, with no cure.  There is relief with certain medications, including Indomethicin.  For me, the medication works for a few hours at a time giving me hours of relief.  Having a diagnosis and treatment has been a huge blessing for me. There is still little known about the headache since it is so rare.  Research is the only way to find a cure.

The best way to support someone with a Rare Disease? Ask them about their condition and their struggles.  Too many people, doctors, and family members tell us we are crazy, that it is all in our heads.  We just want to be understood. So spread the word!

*NOTE:  I know February 29th was Monday.  One fun fact of having a Rare Disease, your body decides when you can get out of bed and when you can’t. Yea!!