(BPT) – In 1982, Rosaline’s Aunt Polly passed away at age 58 from a rare disease called hereditary ATTR (hATTR) amyloidosis after enduring years of debilitating and progressive symptoms. Learning the disease was inherited, Rosaline and her family started researching hATTR amyloidosis and eventually traced the disease back to her great-grandmother, Annie, who came from Carrigart, Donegal – a town in Northwest Ireland.
Less than a decade after her aunt passed away, Rosaline watched hATTR amyloidosis claim her father, Hugh, after he spent the last 22 months of his life in hospice care. Rosaline recalls the disease progression she witnessed in her aunt and father as ‘relentless and merciless’ – the same words she used to describe the fear she and her siblings carried, wondering if they, too, would have the same fate.
hATTR amyloidosis: An Irish heritage connection
hATTR amyloidosis is caused by an inherited variant, or change, in the transthyretin (TTR) gene, which causes the TTR protein to take on an abnormal shape and misfold. This change in shape causes the protein to build up as amyloid deposits throughout parts of the body, including the nerves, heart and digestive system, causing symptoms of the disease. Inheriting the variant does not necessarily mean that someone will develop hATTR amyloidosis.
Symptoms of hATTR amyloidosis can occur in multiple parts of the body and vary from person to person – even among family members. Symptoms tend to worsen over time and may include numbness and tingling in the hands or feet, weakness, shortness of breath, diarrhea, dizziness and unintentional weight loss, although this is not a complete list of symptoms and people may experience other symptoms as well.
The condition is more prevalent among people of certain ethnicities. The T60A variant – one of more than 120 variants known to be associated with hATTR amyloidosis – is specifically linked to people of Irish descent and thought to originate from within a 15-mile stretch of coastline in Donegal. In Ireland, the disease is commonly referred to as ‘Donegal Amy’ and has been identified around the world in areas of high Irish immigration, including the United States.
In 2007, Rosaline decided to undergo genetic testing. She learned that she did, in fact, inherit the T60A variant associated with hATTR amyloidosis and was told it would be highly unlikely that she would ever see a treatment option in her lifetime.
‘I was absolutely devastated, in a state of shock and despair. I just wanted to lie down and scream. I had been living with this condition hanging over my head since finding out it was hereditary, and now my worst nightmare had come true. It influenced my decision to not have a family of my own, since I was scared I might pass it down,’ Rosaline said.
Several years later, as she was approaching the same age her father was when he first developed symptoms of hATTR amyloidosis, Rosaline decided to sell her house and quit her job to spend time traveling the world, certain that she would soon become debilitated by the disease. A few years into her travels, Rosaline was watching an English news program and saw that a treatment had been approved for hATTR amyloidosis. For the first time, Rosaline had hope.
When Rosaline eventually began to experience symptoms – the feeling of pins and needles in her arms, cold, heavy and numb hands, numbness in her feet – she met with her doctor to discuss a management plan. Today with treatment, Rosaline is able to manage her symptoms and now dedicates her time to advocating on behalf of others living with hATTR amyloidosis.
Discussing Your Family Health History
Because Rosaline knew hATTR amyloidosis ran in her family, she received a confirmed diagnosis early in her disease journey, unlike many who live in the dark for years before receiving a diagnosis. Rosaline’s biggest goal is to sound the alarm on hATTR amyloidosis and ensure that families who may be affected are aware. She stresses it is critical to discuss family health history with loved ones and recommends speaking to your doctor about any family records to help determine whether genetic testing may be right for you.
“We can’t be complacent about it. We don’t have time to slowly, incrementally increase awareness. It’s much more urgent than that. We need to be proactive. There are people out there who we know have this and are suffering in darkness,’ Rosaline said.
In addition to inspiring action among those impacted by hATTR amyloidosis, Rosaline wants those with the disease or who may be suffering in silence to know they are not alone. To learn more, find information and support groups, as well as connect with others in the community, visit hATTRBridge.com.
A message from Alnylam Pharmaceuticals, Inc.