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hATTR amyloidosis

My hATTR Amyloidosis Story: Rare Disease Is Just a Bump in the Road for Wheeler

Fighting on the battlefields of the Korean War didn’t prepare Wheeler for a diagnosis of hereditary ATTR (hATTR) amyloidosis, a rare disease characterized by the buildup in the body of misfolded proteins called amyloid fibrils, and something he’d never heard of before being told he had it.

For years, Wheeler suffered mysterious falls, shortness of breath and lightheadedness, but doctors always said he was dehydrated. Then they said the collection of symptoms was due to him jumping out of planes during the war. Wheeler and Tina, his wife of 30 years, accepted this news and kept up their active, travel-filled lifestyle.

Then everything literally came crashing down one summer afternoon in 2017. 

“He just hit the floor, dropped like a sack of potatoes,” Tina said. “Thank goodness I’d decided to work from home that day. He was getting ready to go eat lunch with the fellas, when I heard this loud noise. He was flat on the floor!” 

He was raced by ambulance to the hospital, where doctors later informed the couple that Wheeler’s heart rate had been dangerously low when he arrived. An abundance of tests and procedures followed, including EKGs, a heart biopsy and having a defibrillator implanted.

But it wasn’t until November of that year, a full four months after his July collapse, that a cardiologist at the Medical University of South Carolina finally had the biopsy analyzed and diagnosed hATTR amyloidosis.

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“As he explained it to us, this is what’s been going on all these years,” Tina said.

The disease hasn’t slowed Wheeler—much. 

“I’m handling it well,” he said. “I exercise three times a week and follow the medication they give me.” Though he does admit it interferes a little with his social life. Wheeler is a member of three veterans’ organizations, and he relishes his role as treasurer for one of them.

“He loved to drive. This man used to jump in his car and drive 13 hours to New York,” Tina said. “He has done some settling down and accepting the fact that he can’t just jump up and go to these things.” 

His hATTR amyloidosis limits his time behind the wheel to local travel only. Now when the couple hits the road, Tina does the driving. 

Today, there are treatments available that address the underlying cause of hATTR amyloidosis and additional treatment options are being researched. 

In fact, the only tarnish on the couple’s glow is that their children and other family members haven’t taken the genetic test to see if they carry the mutation that causes hATTR amyloidosis. It’s a sore spot that has the long-time couple somewhat in their feelings.

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“I told them all,” Wheeler said. “But they haven’t followed through yet.”

“We’ve been kind of disappointed in that,” Tina said. “We’re trying to get everyone over 18 tested. I sent them the data where their doctors can order the kit for free because a patient’s family member has been diagnosed, but …”

“My youngest daughter, her doctor hasn’t gotten around to it,” Wheeler said, a hint of unhappiness creeping into his voice.

“They know all that’s going on,” Tina said. “We keep them abreast. They know it’s hereditary. We’re not really sure why they’re not jumping on this.”

“One of their doctors never heard of amyloidosis,” Wheeler said, the unhappiness expanding. But it’s the only sign of dismay over his diagnosis.

“Since he was diagnosed, he’s remained very positive and hasn’t missed a beat,” Tina said. “Keeping that positive mind is a big part of healing.”

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