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Why Rare Disease Day Means So Much to Me

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This year, Rare Disease Day is on February 29, 2020. The goal of this day is to spread awareness on different rare diseases and medical conditions. This is my story as to why I care so much about Rare Disease Day.

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

24 years, and 25 years is why I care so much about this day. It took 24 years for me to receive my diagnosis of a primary immune deficiency (primary hypogammaglobulinemia — IgG deficiency) that I was born with, and that newborns are now screened for at birth. It took 25 years for me to receive my diagnosis of kyphoscoliosis type Ehlers-danlos syndrome (kEDS) which was previously known as type VI Ehlers-Danlos Syndrome. kEDS is another condition I was born with. As much as I hate how long it took me to get diagnosed, I am also lucky because I know others who went 40+ years before finally getting a diagnosis.

You see, doctors are taught a saying in medical school that leads to the difficulty of rare cases receiving diagnosis. The saying goes, “when you hear hoofbeats, think horses, not zebras.” I work in the medical field, so I can understand why this saying came about. It’s geared towards saving time and money and preventing patients from undergoing unneeded tests, but it also leads to many patients being told that their very real medical condition is in their head. Doctors also are only truly educated on “common” medical conditions, which leaves many patients receiving care without their condition being recognized. I myself have experienced this, and even though I now have a diagnosis I still run into the issue that providers have no clue what kEDS is, and as a result they act like my diagnosis isn’t even there. With my conditions, this could lead to very serious consequences.

For the doctors that did maybe receive an hour of lecture on Ehlers-Danlos syndrome (EDS), or even read a paragraph on it, they probably still know nothing about the disorder other than its name. It’s not uncommon for these providers to automatically think it is the same thing as benign joint hypermobility. They don’t realize that there are 13 types of EDS, that they are a result of genetic mutations and that some of them can be life threatening. I have a rare form of the disorder, and these kinds of providers don’t understand that I have over 20 dislocations in one day, that I am at risk for a spontaneous aortic dissection or organ rupture. They don’t understand that my retina could detach and that I have to be followed very closely for these potential complications. They don’t understand that my skin following surgery will not heal the same as a “normal” person or that hypotonia makes it very difficult to regain atrophied muscle. This just barely touches the surface. An hour of education, or a paragraph they are assigned to read is nowhere near enough education to properly/safely treat me. However, these doctors are the ones that I am grateful for (usually it’s students/interns though) because they have heard of it and take what little they know and link it to my medical case. Thanks to one of these doctors who mentioned it and recommended genetic testing, I was able to finally receive a diagnosis.

Then there are the doctors who know a lot about the condition and are able to effectively treat my disorders. I owe my life to these doctors; I just wish there were more of them. Currently, I receive care from doctors in Rhode Island, Indiana, Maryland, Colorado, Missouri and Kansas. This is how few of these doctors exist. I live in Kansas, but have to travel around the country to be treated appropriately. Nothing is more taxing on a patient with a chronic illness than having to travel across the country for surgery. I wish there were more of these doctors. Creating more of these doctors is why Rare Disease Day is so important. The first step is to create awareness and make the disease known.

If you have a rare disease, share your story and create awareness. Embrace your zebra on this special day for us.

“I’m Rare and I Care!!!!”

Getty image via Chinnapong.

Originally published: February 26, 2020
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