Rare Disease Day 2025
Rare Disease Day is the globally-coordinated movement working towards equity in social opportunity, healthcare, and access to diagnosis and treatment for people living with a rare disease.
To mark Rare Disease Day 2025, members of the Genomics Partnership Wales Patient and Public Sounding Board have spoken of their experience of living with rare conditions. This is in the hope that others will feel more empowered to tell their own story and to persevere in gaining a diagnosis and the appropriate support.
Nat's Story
Melanie's Story
“I’d like to think my story will encourage others to keep going and not give up, that would be my wish”
In 2025, Melanie was diagnosed with a rare autoimmune disease called Myasthenia Gravis, a chronic neuromuscular condition with complex symptoms. To mark Rare Disease Day 2025, Melanie has kindly shared her story, in the hope that by shining a light on her condition, others may feel more encouraged to do the same, and that those still awaiting diagnosis may feel more empowered and informed in seeking the appropriate treatment.
For Melanie, the journey to her diagnosis was a lengthy and confusing process. It all started in 2022, when she noticed her eyelid beginning to droop, a condition known as ptosis. To get to the bottom of this, Melanie visited an optometrist at Specsavers and after an examination, they referred her to the hospital for an appointment with an ophthalmologist.
While waiting for an appointment, ptosis was now not the only symptom Melanie was experiencing. Soon, she had noticed weakness in her arms and legs, double vision, and difficulty swallowing. “I started realising that I had other symptoms going on that I didn't realise were related,” Melanie explains.
The ophthalmologist Melanie saw quickly referred her to a neurology consultant, where the word "myasthenia" was first mentioned. “I remember the consultant looking at me and saying, ‘It could be Myasthenia Gravis, but we don’t know yet.’” Those words hit Melanie hard. “It's a really scary illness, I really didn't realise how many things can go wrong.” This initial appointment was the catalyst for Melanie having to have multiple blood tests over a number of years, in an effort to confirm the consultant’s suspicions and provide her with an official diagnosis.
Myasthenia Gravis is an autoimmune disease that causes weakness in the muscles that are needed for functions such as breathing, speaking, moving, eating and vision. This condition, while treatable, often goes undiagnosed for months or even years, much like in Melanie's case.
Treatment for Myasthenia Gravis often involves a combination of medications that improve communication between nerves and muscles, and managing this effectively can take time. Melanie had to develop an understanding of how to correctly time her medication, “It only works for a few hours, so you have to understand when you need it and then take it a certain number of times a day. It was really unclear to me at first”. She describes seeking advice online to help her understand the treatment better, “I had to find a Myasthenia group on Facebook to find out more.”
On Raising Awareness of Rare Diseases…"It Could Inspire Empathy"
For Melanie, the importance of raising awareness about rare diseases like Myasthenia Gravis lies primarily in giving patients the information they need. "A lot of it is for patients themselves, honestly," she explains. "There's really not anywhere to get information.” She believes that by talking more openly about symptoms, people will be able to recognize potential signs in themselves or others. "If you hear certain symptoms in a context that you haven't considered before, you might start to think, ‘Maybe I have a rare disease,’" Melanie says. She points out that without this knowledge, people often don’t have the right prompts to investigate further.
Melanie also emphasizes that a better understanding of conditions helps patients advocate for themselves during doctor visits. "With raised awareness, patients can have a better idea of the types of conversations they want to have when they do get the doctor's appointment," she says. Melanie added that she feels she could have benefited from more frank discussions with her doctors whilst her symptoms were still being investigated. “Being aware of what the doctors were actually testing me for at the time could have led me to discovering the supportive community I now have access to, much earlier in my journey”. Melanie has found comfort in engaging with this community, Myaware, and encourages others in similar circumstances to do the same.
Moreover, awareness isn't just crucial for the patients—it’s also important for their loved ones. "Carers and family could spot the changes and symptoms if there was more understanding," Melanie adds. In her case, a drooping eyelid, one of the more common signs of her condition, could have been caught earlier with the right knowledge. “That should have been a sign, but symptoms are unfamiliar to most people,” she reflects.
By improving wider knowledge, Melanie believes that patients and their families are empowered to seek the right treatment sooner. “It can be inspiring for people in general,” she says, explaining that sharing her experience helps others feel less alone. "You can use your voice to try to empower people," Melanie insists. "And I think it’s important to get our voices heard." Melanie hopes that in using her voice to demonstrate how she and others can live with diseases like Myasthenia Gravis, more people will feel inclined to persevere themselves. “I’d like to think my story will encourage others to keep going and not give up, that would be my wish”
If you would like to find out more about the supportive community that Melanie is a part of, you can visit their website