Elle is a student at Calvin University. She has three older brothers and likes to draw, paint, bake, and watch Netflix (especially mystery shows). If she was an ice cream flavor she would be coffee because “coffee is consistently running through my veins!” While she has three rare diseases and is happy to talk about them, Elle really wants you to know that although she has a lot of limitations, she still has dreams and ambitions that she is eagerly pursuing. Her hope when she graduates from Calvin is to work in public relations for a non-profit like Be the Match or the National Organization for Rare Disorders to pursue her passion for rare disease and disability advocacy.
Q: Why did you agree to be a part of this project? Why is this important to you?
A: I think if you want people’s perceptions to change, then it’s important to share your story. I hope that by my continuing to share my story and experiences that it will help people to better understand rare disease and disability and hopefully be more compassionate to others like me in the future.
Q: How has the community or the church supported you? What could they do to better support you?
A: The biggest support I can ever receive is just people’s willingness to hear my story and to listen. All my rare diseases are considered “invisible diseases” in that you cannot tell that I am sick just by looking at me. Though most people who are disabled have “invisible illnesses” like cancer or diabetes, when someone has a condition that they’ve never heard of people still generally believe the myth that people have to “look” disabled to be disabled. I really appreciate it when people ask me questions and want to know my story rather than just assuming things about me.
Q: Tell me about your rare disease and how you would define it?
A: I have three rare diseases. The first is called Complex Regional Pain Syndrome (CRPS) which is a severe pain condition affecting my entire nervous system (and consequently whole body). This condition causes burning and stabbing pain, inflammation, and many other symptoms affecting the nervous system. The second rare disease is called Hypermobility Syndrome which many doctors synonymize with Ehlers-Danlos Syndrome Hypermobility Type (H-EDS). This syndrome is a connective tissue disorder affecting the collagen, primarily in my tendons, ligaments, and muscle. It results in very lose joints that frequently sub lux and dislocate. These lose joints also cause joint pain. My vital organs can be affected, causing GI problems and weaker cardiac muscle. The third disease is called Dysautonomia, particularly Postural Orthostatic Tachycardia Syndrome (POTS). My POTS is a comorbidity to H-EDS. The damage to my collagen results in more dilated veins making it harder for my body to pump blood to my brain. This causes me to become dizzy, my heart to race fast, and more adrenaline to be produced.
Q: What does daily life look like for you?
A: My conditions cause me a lot of fatigue and insomnia, so I have to be very careful how I spend my energy every day. I need to rest a lot more than others which can sometimes be difficult because it makes me feel embarrassed or lazy, even though I know that is not true. I am also a bit type A and I tend to push myself too much, causing me to “crash” and my symptoms to flare. I also deal with pain 24/7. Ever since I can remember I have had joint pain but did not develop CRPS until I was 16. I am much better in respect to my CRPS now, but it is still often a limiting factor in my life. Along with the joint pain I deal with many other symptoms daily and they affect my life in many ways.
Q: What was your diagnoses process like? Did you ever get misdiagnosed?
A: I was very fortunate that my first diagnoses (CRPS) was reached rather quickly considering that it usually takes on average of 7.5 years for rare diseases to be properly diagnosed. When I was 16 I had broken my ankle and was in immobilization for a total of 17 weeks without the pain subsiding (it was actually getting worse) and with discoloration and swelling getting worse. Because of this, my mom pushed for an MRI and the radiologist suggested that I might have CRPS. My doctor at the time did not do any clinical testing and barely looked at my ankle before dismissing it as a misdiagnosis and telling me that if I did indeed have it, that I’d “grow out of it.” Eventually, another doctor did confirm that I had CRPS and I began chasing different treatments for it, as there is no FDA-approved treatment for this disease and not much is known about the disorder. Along the way I was diagnosed with my other two diseases. I have also had a few misdiagnoses throughout the process, mostly because I have so many symptoms that it is hard to group any number of them into a particular disease or label. I still have a few undiagnosed symptoms, but at some point, you stop worrying about chasing labels and worry more about treating the symptoms.
Q: What kind of treatments are available for your rare diseases?
A: I have many different treatments including supplements, an electro-stimulus device called VECTTOR which is one of the main reasons my pain is a lot better, and ketogenic diet. These treatments take up a lot of time in my daily routine, but I have learned to be thankful that I have these treatments and are able to incorporate them into my life. I am also fortunate to have met some incredible people along the way in my journey who have helped me find my passion in rare disease and disability advocacy.
Q: What is the hardest part about your rare disease?
A: The hardest part is that it’s invisible and people never see what it’s like. They never see me at my worst because when I am, I want to be by myself in my room, so I don’t have to act like I’m okay. People only ever see the best side of me, so when I tell them about the things I’ve experienced or been through it’s hard for them to understand.