Life as a professional football player can be hard on the body. Players often refer to playing on Sunday as equivalent to being in a major car accident once a week. For Art Still, playing in the league for over 10 years was an absolute pleasure, but also a nightmare for his body. For Still, it was not just the pain of battling in the trenches that harmed his body; he also had an underlying illness that increased his risk for heart failure.
Still was diagnosed with ATTR-CM. ATTR refers to Transthyretin Amyloidosis, a progressive and often fatal disease caused by the buildup of misfolded transthyretin (TTR) proteins in organs, including the heart, nerves, and kidneys. This protein buildup, known as amyloid deposits, interferes with organ function, leading to symptoms like heart failure (transthyretin-mediated amyloid cardiomyopathy or ATTR-CM) or nerve damage (transthyretin-mediated amyloid polyneuropathy or ATTR-PN), and can be caused by inherited genetic mutations or changes that occur with aging.
“I have always watched what I ate and lived a pretty healthy life, but I also noticed that I had several symptoms that led me to believe that something was going on,” Still said. His symptoms started right after he retired. He thought playing football caused some of the numbness in his legs, but after he spoke to his brother, he realized that they both shared the same issues.
Some of the symptoms of ATTR are:
- Cardiomyopathy (ATTR-CM): Stiffening of the heart muscle, leading to heart failure symptoms such as shortness of breath, fatigue, and swelling in the legs and feet. Other symptoms outside the heart often appear several years in advance, including carpal tunnel, bicep tendon rupture and numbness or pain in the lower back (spinal stenosis).
- Polyneuropathy (ATTR-PN): Damage to the peripheral nervous system, causing nerve pain and dysfunction.
- Other Organ Involvement: Amyloid deposits can also affect the kidneys, brain, and other systems.
There are two different types of ATTR:
- Variant/Hereditary ATTR (ATTRv): Caused by a mutation in the TTR gene that results in unstable TTR proteins.
- Wild-type ATTR (ATTRwt): Occurs due to age-related changes in the TTR protein, typically affecting older adults.
Still has the hereditary type, and so far, over four members of his family have the traits for the disease. Two of his brothers and two of his kids carry the variant trait of ATTR. Still travels the country to educate people about early detection and how modern medicines can reduce the impact of the disease.
“Right now, I feel amazing, because I am taking the right medications to combat my illness. I also work hard to live the right way. But the medications I take really help me be able to reduce the symptoms of ATTR and thrive,” Still said.
Approved medicines that treat ATTR-CM include stabilizers that reduce disease progression by stabilizing the unstable TTR proteins to limit the misfolding into amyloid. Gene silencer therapies work to reduce the amount of TTR protein produced in the body.
Dr. Hansie Mathelier, a Clinical Assistant Professor of Medicine at the University of Pennsylvania in Philadelphia, Pennsylvania, is a heart failure cardiologist who explains how proteins work in the body.
“The body makes DNA, and the body also makes protein. And the protein in our body needs to fold in a certain way. Sometimes something can happen where proteins misfold and the body does not know how to process it,” Dr. Mathelier said.
Because the body does not know how to process the misfolded protein, it starts to deposit in certain parts of the body. It deposits in the nerves, the GI system, and the heart.
“It’s kind of like a conveyor belt, the body is busy transporting things around inside, but if something is wrong with a cell, the body does not know what to do with it, so the body will begin to deposit the misfolded proteins in areas of the body, unknowingly causing the body harm,” Dr. Mathelier said.
AWARENESS IS THE KEY
With a disease as difficult to understand as ATTR, early detection and treatments are the key to fighting the symptoms of the illness. Specialists suggest a three-pronged approach to discovering if you have ATTR. It is suggested that you consult with doctors who specialize in:
- Cardiology
- Neurology
- Orthopedics
Because the symptoms of ATTR can be present in several different areas of the body, at different times, those who fear having the disease need to work with all three specialists to compare and share any data that will aid in the early detection and treatment of the disease.
“The earlier we detect TTR, the faster we can reduce the side effects of it, and the damage it causes the body.” Dr. Mathelier continued, “Because treatment doesn’t rid the body of bad proteins, early treatments help to curb the issues that arise from having the body deposit the misfolded protein in areas of the body that cause either illness or death.”
You can manage some ATTR-CM symptoms naturally by reducing salt intake, staying hydrated, getting regular, light-to-moderate exercise, and focusing on a heart-healthy diet rich in fruits, vegetables, and lean proteins like fish. However, these methods do not prevent or treat ATTR-CM and should always complement, not replace, medical treatment prescribed by a healthcare provider.
Until six years ago, there were no approved treatments or medications to curb ATTR-CM. Today, with the advancements in medicine from the pharmaceutical industry, patients are getting the help they need to live productive lives.
JeShaune Jackson, the director of Strategic Alliances and Patient Advocacy for BridgeBio, works to pair the knowledge of the medical industry with the current patient population so people are aware of the disease and how to access the care they need to treat ATTR-CM.
“Three of the most exciting things in the TTR-Cardiac Amyloidosis field for me are;
1) We know that TTR (prealbumin) is an important protein that transports thyroxine and vitamin A, supporting memory, neuroprotection, and cognitive function.
2) ATTR-CM awareness continues to be needed so that patients can be diagnosed sooner and start treatments as early as possible for the best outcomes.
3) We have a global clinical study, ACT-EARLY, to evaluate whether our TTR stabilizer can prevent or delay the onset of disease in individuals with hereditary ATTR and who have not yet developed symptoms,” Jackson said.
If Jackson had his way, he would spread the word to as many families and friends about ATTR-CM and how it disproportionately affects the communities that many people call home.
Jackson is speaking about the Black community. There are numerous ATTR-CM mutations, and they impact communities differently. For the Black community, about four percent of African Americans carry the genetic trait of the disease, which can lead to heart failure.
Of that four percent, the consequences are devastating for those who carry the V122i variant because many Blacks do not know they have the genetic trait. So there is a long period before attempting to treat the disease. No treatment often leads to serious illness or death.
For Gesna Clarke, detection equaled a second chance in life. Her story is not unlike many Blacks who live day to day with the symptoms but brush them off to a harsh life, or they simply ignore the signs.
For her, the detection and treatment curbed her side effects and allowed her to resume the life she once loved, and has given her the courage to become an advocate for early detection.
“I know how bad it was for me, so I now do whatever I can to help those who may not know that they have it, get the proper care that they need,” Clarke said.
The beautiful thing about life is that it is never too late to get it right. The proof is in those who are beating ATTR-CM with the best treatments in business. With advocates like Art Still, Dr. Hansie Mathelier, Patient Advocate JeShaune Jackson, and Gensa Clarke covering it from all angles, the disease does not stand a chance for those who want help.
So, no matter if you are a former professional football player, a doctor, a patient advocate, or a loving mother, your future is back in your hands, and that is all anyone should ever want.
World Amyloidosis Day 2025 will be observed this month on October 26, 2025.
