Derry woman living with rare condition working to raise awareness! – Northern Ireland Rare Disease Partnership

The condition is more unusual as it is geographically specific; all those diagnosed have familial connection to NW Donegal

Derry woman, Rosaline Callaghan, was diagnosed in 2019, with the rare condition known as hereditary amyloidosis. It is a condition geographically specific to North West Donegal.

Rosaline chats to Derry News about her condition, the support she has received from The Northern Ireland Rare Disease Partnership (NIRDP) and living with a rare diagnosis.

“In the rare disease community; the names of the conditions are so unheard of and so complicated that it is often difficult for those living with rare conditions to really explain to people what their life is actually like,” Rosaline explained.

“If you say you have cancer, it is a well-known disease. It is awful but people know how to react. When you say you have a rare disease, people give you a blank look and rightly so; they don’t know what to say.

“Outside friends and family, you have the added challenge of explaining to the general population.”

Rosaline’s condition is called hereditary amyloidosis. The condition originates from a 15 mile coastline in Donegal. Rosaline desrcibes it as a “ravaging condition” and it is only in recent years that treatment has become available, “I am the first in my family to receive treatment due to incredible scientific breakthroughs,” Rosaline continued. “There is now medication that slows down the often rapid progression of the condition.”

Rosaline was diagnosed with hereditary amyloidosis – Donegal Amy for short- in October of 2019.

People with hereditary ATTR amyloidosis carry mutations in the TTR gene. This means their bodies produce abnormal TTR proteins throughout their lives, which can form amyloid deposits. These usually affect the nerves or the heart, or both.

Rosaline said: “When I was diagnosed, I just came home and held my head in my hands thinking, ‘What do I do?’ I had so many questions. My father sadly passed away from the condition and spent the last 22 months of his life in Foyle Hospice. He received tremendous care and we are forever grateful to them.

“Receiving a diagnosis, especially of a rare condition, can be so terrifying and exhausting, and quite stressful. You go from being a healthy person to navigating a whole new landscape.

“I am fortunate enough to have received incredible support from the NIRDP. There is also a Facebook Support Group which was an amazing help as when you are diagnosed it can be a very lonely place.

“When I found the NIRDP, it was the first glimmer of hope and light in the tunnel. I contacted Sandra and the rest is history.”

Rosaline now works for NIRDP part-time advocating for those who live with her condition and other rare diseases, “They do so much amazing work and we have lots of work still to do. We want to connect, educate and raise awareness for the rare disease community.

“With my condition, the dream and end goal is to continue to raise awareness of this condition and in turn- early diagnosis. I want to advocate for genetic testing. Currently, it takes around five years to be diagnosed. However, if people were diagnosed sooner and received treatment earlier on in the process; it would be so much better for their quality of life.”

Donegal Amy is all the more unusual as it is geographically specific; all of those diagnosed have familial connection to the North West of Donegal. People are diagnosed all across the world but whenever they trace their ancestors; they always have connections to the area. In the 1980s a cluster of people were diagnosed. Rosaline’s auntie was the first person to have a recorded diagnosis.

“Rosaline added: “My family throughout the years have been diagnosed. It is a late onset condition and people usually start to show signs around the age of 50. It has similar symptoms to Motor Neuron Disease (MND). It is slow, relentless and progressive. There are only a few thousand people in the world with this condition, but we are helping each other through it.

“It can be very isolating and confusing when a diagnosis of Amyloidosis is made within the family, especially for the first time- but there is support available.

“I will keep advocating for the community and all of those living with a rare condition. You are not alone.”

1 in 17 people in Northern Ireland are living with a rare disease with an estimated 110,000 diagnoses across the country.

If you, like Rosaline are living with hereditary amyloidosis, you can contact Rosaline via: irishrosaline@gmail.com

Rosaline also released a book about her condition called ‘Donegal Amy’ which is available via: https://wildstoryteller.com/product/donegal-amy

You can also join the support group via Facebook: ATTR Amyloidosis All Ireland Support Group

You can also contact Northern Ireland Rare Disease Partnership for support, information and advice.

Rosaline published a book about her condition.