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20161110  Cheryl  Bob Sachs Fabys Story 2572 1200x630

A Life-Changing Diagnosis Solves Years of Medical Mysteries

After years of health trouble, Cheryl finally gets answers with the help of her Baystate team.

Category: Genetics

Cheryl Sacks of Springfield has battled challenging health adversities for almost her entire life. “I would faint without warning and they weren’t sure what is was,” Sacks says. “Eventually I developed serious cardiac problems.”

Over the years, Sacks had many heart-related health issues, which led to pacemakers, countless tests, and many confusing doctor appointments. No doctor could identify the cause of her problems. Sacks had extensive testing by a range of specialists across the country, from Mass General Hospital to Brigham and Women’s Hospital to the Mayo Clinic, and others in between.

“None of them got the diagnosis—outside of a diagnosis of congestive heart failure,” explains Sacks.

That was until Dr. Mary-Alice Abbott, chief of Genetics at Baystate Medical Center, got involved. Finally, at 53 years old, Sacks received a diagnosis.


“Fabry disease is a rare genetic condition,” Abbott explains. “It is often thought of as a disease that affects only men. However women can also have it. Fabry is diagnosed in about 1 in every 50,000 men, and it is unclear how many women may have it. Often, women who have Fabry disease have significant medical problems for a long time before the diagnosis is made.”

According to the National Fabry Disease Foundation, it is a rare genetic disorder caused by a defective GLA gene in the body. This faulty gene typically causes a deficient quantity of the enzyme needed to break down a specific lipid (a fatty substance) in the body. When this lipid and other similar ones are not broken down, they build up in the body and cause cell damage.

This leads to a wide range of mild to severe effects on multiple bodily systems, including life-threatening consequences such as heart attacks and strokes.

“It’s an extremely rare genetic disease that is passed along on the X chromosome, so if your father has it, his daughters will have it, but not his sons,” Sacks explains. “It affects the lysosomes of your cells and it affects every cell of your body, which is why it can be so destructive. I’m very grateful to Dr. Abbott and her team for correctly diagnosing my condition.”


In Sacks’ case, it became clear that Fabry Disease had not only caused her cardiac issues all of her life, but several other medical concerns as well, including chronic kidney disease, lung complications, gastrointestinal issues, and neuropathy (weakness or pain from nerve damage).

“They asked me if I ever experienced symptoms of neuropathy, which I did,” she says. “But I’d had them since childhood, so I thought they were normal. It was interesting to realize that healthy people don’t share these aches and pains.”

Dr. David Desilets, a gastroenterologist at Baystate, gives Sacks a lot of credit. “My impression of her as a patient is that she is very courageous. She does not give up. She is very compliant with recommendations, never deviating without a good reason, and if so she tells you. I am also struck by how supportive her husband is. He comes to every visit, dotes on her, and is a rock that helps her cope with her myriad health problems.”

Abbot agrees. “Ms. Sacks has endured years of complex debilitating medical conditions and a prolonged diagnostic odyssey. Nonetheless, she has maintained a positive presence and has emerged as a fierce patient advocate.”


Since her diagnosis, Sacks has been on a journey to find the correct medication to treat Fabry.

“One of the most difficult things about Fabry is the lack of treatment,” says Sacks. “There is only one drug in the United States approved for use. I was on it for a few years. But I didn’t do well, and I was somewhat allergic to it. They then fought to get another drug from Europe. I did very well on it, and then the drug company pulled it out of the country.”

That was not a situation Dr. Gregory Braden, chief of Nephrology at Baystate Medical Center, was going to accept. “I am a voracious patient advocate who became interested in Fabry Disease in 1990,” Braden explains. “Cheryl is a wonderful person and it is a privilege to assist her in her fight to stave off the ravages of this disease.”

Sacks appreciates his tenacity. “It was Dr. Braden who was a fierce advocate for me. He fought tooth and nail and got the medication back, even when we were told that there was no one who would ever get it back in the United States,” Sacks says.


Despite Braden’s success in getting the medication Sacks needed, her body began fighting the medication and she developed an allergy to it.

Once again, Braden would not give up. “I had Baystate become an approved site for the use of migalastat, an oral drug that her gene mutation allows us to give to enhance her own endogenous enzymes,” Braden explains.

“Cheryl is doing much, much better on this drug. Her renal disease is in complete remission and her gastrointestinal obstipation is much better.”

"We call Dr. Braden our 'superdoc,’” Sacks says. “Now I’m on a clinical trial drug that Dr. Braden went to bat for, and many things are improving, except for my heart, which has been a problem for 15 years. I have a huge team at Baystate, and I’m very grateful to that team. Without that constant teamwork and support, I’m sure that I would not have survived this long.”


Sacks is hoping that she can get placed on a list to receive a heart transplant, which congestive heart failure has made necessary. At one point her life expectancy was age 40. She has already surpassed that by 21 years, and plans to keep breaking records.

“The issue is not just quantity of life but quality of life. That’s the key: Focus on what you can do, and not what you can’t do. That is what gets me up in the morning and gets me moving forward. I think a lot of people when they get sick focus on that.”

She adds, “My favorite word, and the core of my life, is the word ‘resilience.’ No matter what gets thrown at you, you can bounce back and bounce back and bounce back.”

Especially with her team at Baystate always by her side. “People don’t always realize the quality of care that is here,” Sacks says. “You have some incredible doctors, but not only their brains and training. Most are also really skilled in patient care and listening to patients, and had that not happened, my diagnosis never would have been discovered.”