“People who are living with a rare disease are fighting something that few people understand,” Nora R. says of her late husband Andy’s (dx 2018) battle with scleroderma. “It’s an invisible illness, and people outside the community have no idea what it’s like to fight it.”
In honor of Rare Disease Day on February 28, Nora is sharing her family’s story to raise awareness and ensure that Andy’s experience helps others better recognize the hidden challenges of rare diseases.
Looking back, the earliest warning signs were easy to dismiss, as they were not clear indications of a more severe condition. “One of his first symptoms, which we didn’t know was a symptom at the time, was knee pain,” Nora explains. “Andy had mentioned that his knees would hurt when he bent down, but we didn’t think it was serious.”
In the months following, he later experienced swollen hands, extreme fatigue, weight loss, and skin spots. “Andy was in pain for 6 months without any answers as to what was causing it. We went to numerous doctors and specialist appointments trying to figure out was wrong with him and getting nothing,” she describes.
By the time he finally received a diagnosis, scleroderma had already taken a profound toll on Andy’s daily life. “After he was diagnosed, Andy’s life was forever changed,” she says. “This disease took his ability to enjoy his life and do what he loved, like hunting and fishing and being outdoors. It robbed him of everything. The smallest things from tying his shoe laces to bending over were now almost impossible.”
While dealing with a rare disease like scleroderma, advocating for Andy’s care often meant navigating a healthcare system that wasn’t always familiar with the condition. “A lot of healthcare workers have never heard of scleroderma because it is so rare,” she says. “And so you have to explain to them what it is. That was one of the most frustrating things we had to go through.”
“When you are supporting a loved one battling scleroderma, you need to never give up hope,” Nora says. “Be their voice, their advocate—especially when it comes to the doctors and specialists that are caring for your loved one.”
Outside medical settings, Andy also faced misconceptions about what disability can look like. “People often didn’t think he looked disabled, because some people only consider it as being elderly, or being in a wheelchair,” Nora explains. “But that isn’t the case for everyone.”
Today, Nora channels her grief into spreading the word about scleroderma, determined to help Andy’s story make a difference for others. “He was my husband, my best friend, my rock, my world,” she says. “My passion for supporting scleroderma research is that so my Andy can have a voice, and so that others do not have do go through what he endured.”
Nora hopes that greater attention to rare diseases will accelerate the search for better treatments. “Rare disease awareness is so important because early diagnosis and proper treatment is key to helping people deal with diseases like scleroderma,” she says. “I hope and pray that someday there will be a cure for this awful disease.”
We are deeply grateful to Nora for sharing Andy’s story in honor of Rare Disease Day and for helping raise awareness of the urgent need for rare disease research. On February 28, we invite the community to join us in amplifying these voices and highlighting why research matters for people living with scleroderma and other rare conditions.
