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Rare Disease Day 2019: My Reflection

Rare Disease Day is always a day of reflection for me.

It’s a time for me to look back on the last 9+ years since my Postural Orthostatic Tachycardia Syndrome (POTS) diagnosis. It’s a time to be grateful for all that’s happened and for all the lessons I’ve learned in the process.

POTS Before

I will forever remember the day that my POTS hit me for the first time in the fall of 2009. I remember being a freshman at BL and being in my first 2 classes of the day. Suddenly, I felt as though I’d been thrown into a blender put on the highest setting. The immediate onset of extreme dizziness and vertigo was very scary. But I didn’t really begin to panic until 2nd period when my legs suddenly began going numb below my knees. I remember spending that entire class wondering if I’d physically be able to run to the nurse’s office once the bell rang. Luckily my legs still worked and it wasn’t actually as bad as it felt.

POTS Diagnosis

That day was the start of the next several months worth of regular doctors appointments and trying to figure out what was wrong. Most people with POTS fight for an average of 5-7 years for an accurate diagnosis. It only took me 4-5 months before I saw a pediatric neurologist who diagnosed me with POTS. It took him a mere 20 minutes after I walked into his exam room to make the diagnosis.

I will forever remember him saying “I know what you have” before he went on to explain POTS to my mom and I. I remember looking at him when he finished and remarking “so I’m not crazy?” before turning to my mom, pointing my finger in her face, and saying emphatically “I told you I wasn’t crazy!”. Not that I or my parents ever doubted that something was actually seriously wrong with me. But when symptoms appear so mysteriously and tests come back inconclusive for months, sometimes it’s hard to keep your faith.

POTS After

Unfortunately, it took another 7.5 years to get my Ehlers Danlos Syndrome (EDS) diagnosis. EDS, we learned, is the root cause of my POTS. It is also the root cause of my Gastroparesis and my Mast Cell Activation Syndrome.

Looking back, my family and I can see evidence of my POTS and EDS throughout my life. From my hip dysplasia and breech birth, scoliosis and flat feet, to my mysterious and unexplained pains growing up. Even not being able to tolerate the up-down-up-down physicality of Catholic Mass. Evidence of my chronic illnesses is all over my childhood and adolescence. Unfortunately, it took until my 20’s to really get a good understanding of all that I’m dealing with. 


Today, I have 4 physical chronic illness diagnoses that I include when I talk about Rare Disease Day: Ehlers Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), Gastroparesis (GP), and Mast Cell Activation Syndrome (MCAS).

Gastroparesis and Mast Cell Activation Syndrome, by the numbers, are rare. POTS and the subtype of EDS that they suspect I have (there are over 13 subtypes) are not. However, POTS and EDS are included in Rare Disease Day because they are so rarely known about and because there is currently no FDA-approved treatments for either of them. The medications I take for POTS are not FDA-approved specifically for POTS.

Bottom Line

The bottom line is this: currently, there is no cure for any of the rare diseases that I have. Also, Ehlers Danlos Syndrome is a genetic disorder. I inherited it from my parents. EDS is interwoven into every cell in my body. Like I mentioned earlier, my doctors have all said that Ehlers Danlos Syndrome is the root cause of my other 3 disorders (other 4 if you count my Polycystic Ovarian Syndrome). These health conditions are chronic. They will never just go away. I am stuck with them in some capacity for the rest of my life. However, I do have hope for continued improvement and for further scientific advances that will lead to better treatments for myself and millions of others.

I Have Hope

I am rare. But I now have a solid support community of fellow rare warriors who “get it”. I have friends and family who are not rare who support me. Science, medicine, and genetics continue to make solid advances toward treatments of rare diseases, discoveries of new subtypes of EDS, and hopefully, one day, cures for us all. Not that I’m naive. Do I really believe we’ll ever be able to “cure” a genetic disorder? Not really. But I don’t know that for sure. So I’ll keep hoping. I’ll keep advocating. And I’ll keep fighting.

Learn More

Learn more about Postural Orthostatic Tachycardia Syndrome (POTS) here and here.

Learn more about Ehlers Danlos Syndrome (EDS) here.

Learn more about Mast Cell Activation Syndrome (MCAS) here.

Learn more about Gastroparesis (GP) here.

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