Health Watch: Fairbanks resident shares personal experience for National Rare Disease Awareness Day

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Published: Mar. 2, 2022 at 4:58 PM AKST
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FAIRBANKS, Alaska (KTVF) - National Rare Disease Awareness Day took place this week, and a Fairbanks resident has shared her personal experience with her own disease.

According to Fairbanksan Nicole Welch, she was diagnosed with her condition after 11 months of tests from doctors in Seattle.

“I have a disease called Lambert Eaton syndrome,” Welch explained. “I was diagnosed back in 2004, after a very long year of symptoms coming on and us not being able to identify what was going on. My first symptoms started in March of 2003, and I was formally diagnosed out of Virginia Mason in Seattle in February of 2004. So quite a journey to get to a diagnosis point. That’s probably the worst thing I think about - having to remember your condition - and sometimes it can take time to get to a diagnosis to know what is going on and what the treatment options are. In that period, your life is very impacted. You’re scared, you’re nervous you know, you kind of expect to go to the doctor and get a quick diagnosis and that doesn’t always happen. So that journey for you personally, but also your family trying to support you, can be a long one.”

The awareness day was started with the goal of working towards equity in healthcare, and access to diagnosis and therapies for those with rare diseases. For Welch, finally getting diagnosed was a large relief.

“At the point of diagnosis there’s celebration really,” Welch elaborated, “even if you don’t know what the long term outcomes are gonna be, or how the treatments are going to impact you. You’re just excited to sort of know what’s going. I remember that day very vividly, going into the doctor’s office after a long year and him saying, ‘I think I know exactly what you have.’ A couple of days later after some more tests, he gave me a diagnosis and I am on some long term medication for that. That has allowed my life to have some good quality. There are bad seasons and good seasons, but in the main I live a quality life on medication.”

By spreading awareness to communities and policy makers, the hope is to create more accessibility for those affected.

“In my case, and in probably in many cases, my disease is invisible,” Welch continued. “If somebody saw me they would not know that I was ill. People struggle with things, health conditions and things that impact them on a daily basis that others may not know. So I think raising awareness from just a human being perspective of compassion and kindness to each other [matters]. I also think probably more tactile things of enough access to buildings, handicapped parking, and things for individuals who may have mobility issues which is what I have been challenged with.”

More information of Rare Disease Awareness Day can be found on their website.

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