Students with rare diseases talk experience and allyship

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You don’t know what it is, but something doesn’t feel right. The pain and difficulties partaking in your daily schedule seem to increase or go away for a few days and then come back. When you reach out to doctors, they don’t have the answers either. They refer you to specialist after specialist, test after test, but they can’t seem to figure it out.  

Undergraduate Student Government (USG) and Diversability, a club focused on accessibility and disability awareness, hosted “Aware about Rare: Student panel on rare diseases,” a virtual event discussing the experiences of University of Connecticut students with rare diseases and ways to be an ally for people with rare disabilities. The WebEx meeting was hosted by Christine Jorquera, the Student Development Advocacy Director at USG and joined by panelists Kavya Ganugapati, Sarah Hill and Angela Su.  

Kavya Ganugapati, a sixth-semester allied health sciences major, has a working diagnosis of an autoimmune neuromuscular disease that first showed symptoms after her freshman year at UConn. Her autoimmune disease causes weakness and pain in the muscles of her arms and hands. Ganugapati explained that it took a while for her to finally get treatment, but hopes she will get a more specific diagnosis of the autoimmune disease that she is living with. She shared how her experience has made her realize how inaccessible healthcare can be. 

“I’m not sure what the rest of my life will look like in terms of treatment and whatnot and I hope I get a diagnosis but that’s where I’m at right now.”

“I’m not sure what the rest of my life will look like in terms of treatment and whatnot and I hope I get a diagnosis but that’s where I’m at right now,” Ganugapati said. “In terms of mentally, it has also been really hard, like especially because the piano has been such a big part of my life and now the one thing I relied on my whole life for some reason it’s what’s wrong with me. So, that’s been hard but I have all the support of all my family and friends and I am so privileged and fortunate to be able to get this treatment if anything all of these moments has shown me how inaccessible our health system is. There are so many communities of lower socioeconomic status communities of color and other marginalized communities that just aren’t able to get treatment.” 

Hill, a former College of Agriculture Health and Natural Resources senator at USG was diagnosed with Wolfram syndrome, also known as diabetes insipidus, diabetes mellitus, optic atrophy, deafness (DIDMOAD). Hill explained that Wolfram syndrome is a genetic disease causing the body to process water abnormally so there is an overproduction of urine (diabetes insipidus), type one or type two diabetes (diabetes mellitus), damage to the optic nerve and sometimes blindness (optic atrophy) and hearing loss (deafness). Hill said it is a neurodegenerative disease that is expected to progress. They said that growing up, doctors and family often had a hard time determining what type of disease it was. Hill said their parents kept their diagnosis a secret until they were 16. Hill said their parents feared telling Hill about Wolfram syndrome would discourage them. After Hill’s parents told them, Hill felt relieved and started to learn more about it and connect with people who have the disease. 

“There was one doctor’s appointment that I had, pretty close to them telling me where the doctor said something about Wolfram syndrome and they quickly diverted the conversation,” Hill said. “I went on a hike with my dog at the time and that was when they told me and I was like oh ok, honestly, it was sort of relieving because I didn’t have to worry about getting diagnosed with more things, it had always just been a part of my life and so I had a name to put to it and I knew a little bit more.” 

Growing up, Angela Su, an eighth-semester pharmacy student, always thought her joint pains were just growing pains and disregarded it. However, last year Su said while yawning she dislocated her jaw for eight hours and had to go to the emergency room. Her specific diagnosis is still unknown, but Su says it’s an undiagnosed form of Hypermobility where the joints are more mobile than normal. Su said for a long time she didn’t validate the disease she lived with. 

“Even coming here I was like I don’t even have a diagnosis…”

“Even coming here I was like I don’t even have a diagnosis, like am I okay to talk at something like this but I’m like no, my jaw was stuck open, not normal, many many other things not normal, being able to stump specialists in their area of specialty, not normal.” 

With the support of Jorquera, Hill mentioned that they were proud to help pass a bill regarding rare diseases in USG last year. The bill not only recognized Rare Disease Day but also showed support for research in rare diseases.  

“As someone who is an ally, this is probably the biggest takeaway that I’ve taken in supporting those that I know and love with a rare disease,” Jorquera said. “Spreading awareness, understanding and education. It’s important to be educated on the topic of rare diseases though they are obviously rare, if someone close or near to you has a rare disease be educated on it and ask questions, ask how you can be their biggest support and come from a place of understanding.”  

Learn more about rare diseases: https://rarediseases.org 

This article was updated at 12:06 p.m. on March 18, 2021.

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