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hATTR amyloidosis

My hATTR Amyloidosis Story: A Diagnosis Leads to Advocacy

Jean Williams, 65, has been seeing the same primary care physician for years. Perhaps this familiarity afforded her the ease with which to openly discuss her care.

A veteran traveler, Jean had experienced symptoms of hereditary ATTR (hATTR) amyloidosis, a rare disease characterized by the buildup of misfolded transthyretin proteins (known as amyloid deposits) in the body, for a long time. The symptoms of hATTR amyloidosis can vary widely and affect several parts of the body, including the peripheral nervous system, cardiac system and autonomic nervous system. 

“My symptoms had been coming for years, decades,” she said. “We weren’t sure how or if they fit together.” 

Doctors checked her heart, liver and kidneys. The tests showed nothing, but Jean added walking to her daily routine in the hopes that it would help. It didn’t. Instead, her symptoms continued, and later a few new ones cropped up.

“My wrists started to hurt,” she said. “The doctor said, ‘Oh, that’s carpal tunnel.’ After doing six nerve conduction tests, he recommended surgery, which I had on my right wrist.”

The pain stopped, but her fingers were numb.

This was followed by dramatic weight loss. “Folks said, ‘You look so great! What are you doing?’ I wasn’t doing anything,” she said. Though her doctor said her weight loss was a good thing, it bothered her, so she asked him to check her for cancer. Fortunately, she didn’t have cancer.

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But it was a fall—on the stairs of a restaurant—that led to answers. The fall itself was unremarkable, but it was the sign to Jean that she needed serious medical help.

Around this same time, Jean’s niece called her to say her mother (Jean’s younger sister) had passed out during a colonoscopy. Doctors discovered her sister’s heart was functioning at only 25 percent, necessitating a heart transplant. Her sister got a new heart—and an hATTR amyloidosis diagnosis. 

After learning that hATTR amyloidosis is passed down through families, the sisters put their heads together and realized they both shared symptoms with their late mother, who passed away 20 years ago, in 2000. 

“By the time [she passed], she was bedridden,” Jean said. “She didn’t know the cause of her demise, what her diagnosis was.”

Though Jean at first thought there was no way she had a genetic disease, her sister convinced her to be checked. “I made contact with my sister’s doctor,” she said. “Then my doctor had me tested for hereditary amyloidosis. I tested positive last year.”

Her experience with hATTR amyloidosis has been eye opening, she said. “I used to be on top of everything I did—from painting my house to painting pictures. I used to dance, play field hockey. Now I was not able to go up my stairs.”

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She has started treatment and she’s getting stronger. “I’m now taking it a day at a time. I’m feeling much better, and thinking within a couple of months, I’ll be able to go up my stairs again and be the person I used to be.”

Jean has also become somewhat of an advocate. “One of my brothers said he’s feeling a little numb in his hands and legs. My uncle died before my mother with similar symptoms. There’s a lot of people on my grandfather’s side of the family; that’s where it seems to have come from. I have to find all of them and make them aware,” she said with a sense of urgency. “They need to see their doctor. They need to move fast because this disease can progress rapidly. They need to seek medical consultation at the first sign of symptoms and get tested.”

Jean isn’t the only one pushed by her diagnosis to get the word out about this disease. Her doctor is now more aware of signs of hATTR amyloidosis. “He’d heard of it, but because it is so rare, he didn’t think that was what was happening to me,” she said. “He told me he’s now looking out for other people who have similar symptoms. That is a good thing. I’d love everybody to know what to look out for.”

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