Helen “Cathy” Gould has endured a lot.
An Alpha-1 antitrypsin deficiency patient, she had a successful double-lung transplant in 2011 and now undergoes weekly augmentation therapy sessions to prevent her body from rejecting the new lungs. Before being diagnosed with Alpha-1 in 1999, Gould saw eight different doctors over 11 years.
Gould, 70, of Shelocta, said that despite various tests, the physicians could not determine what was ailing her — the extreme fatigue, shortness of breath and numbness in her extremities that she first noticed in her 30s. For about 14 years, she required oxygen to breathe.
“I literally could not get off the couch sometimes,” she said.
Doctors often assumed it was chronic asthma, but as a former nurse, she knew it had to be something else because she had no allergies.
So Gould kept pushing for answers.
She was finally diagnosed with Alpha-1 at the Cleveland Clinic at age 55.
“That’s why I’m still alive; I took control,” she said.
After her double-lung transplant, Gould said she put a healthy amount of weight back on, her color returned and her lung capacity was enhanced tremendously. Before the transplant, her lung capacity was less than 40 percent. Because she received lungs from a man (a 60-year-old Vietnam veteran), her lung capacity is now technically 113 percent, she said.
“When I could take a deep breath, I felt so much joy. You have no idea.”
Though she said she feels like a different person and has shed the oxygen tank, Gould still must undergo intravenous treatments once a week for two hours.
Now, with proposed changes to the health care laws, Gould fears the price of the medication that helps keep her alive — and is paid for in full under a Highmark plan — may skyrocket to $7,000 per month, she said. For some Alpha-1 patients, the cost can exceed $100,000 a year.
So Gould is again trying to take control of the situation. She and many others with Alpha-1 are championing the Patients Access to Treatments Act (House Resolution 460), which would ensure insurance coverage for medication that falls under specialty tiers, Gould said. And they want legislators to oppose cuts to Medicare reimbursements.
Gould was one of several Alphas, as they call themselves, to testify in June on Capitol Hill about the importance of the issue.
“We got a really good reception,” she said.
She and other Alphas had a private meeting one day with the chief of staff for Sen. Bob Casey, D-Pa., and attended a congressional briefing the next day where John Walsh, director of the Alpha-1 Foundation, also testified.
Seeing fellow Alphas dragging oxygen tanks with them to the hearing brought tears to her eyes, Gould said. In many cases, she said, if insurance payments go up significantly, these same people will no longer be able to afford the oxygen they need to breathe.
Alpha-1 is a rare hereditary disorder that can result in life-threatening lung disease. It occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin, or AAT, which is produced by the liver. AAT protects the lungs from inflammation caused by infection and inhaled irritants. Abnormal AAT can build up in the liver, triggering liver disease. In a healthy person, white blood cells attack an infection, and the liver releases a protein to stop the cells, she explained. In Alphas, the liver is unable to release the protein, and the blood cells start to attack healthy tissue, eating away at the lungs.
Fewer than 10,000 people are currently diagnosed, and up to 3 percent of all people with COPD may be an undetected carrier of Alpha-1, according to the Alpha Registry.
Turns out the disorder is quite common in Gould’s family. She said she lost her father to the disorder at 56, her mother at 79, a sister at 68 and a brother at 42.
Because it is hereditary, Gould was able to deduce that her parents and brother were carriers. Her sister tested positive about a year before she died. Two other siblings are not carriers. And she wonders about her nieces and nephews.
“I lost too many people in my family,” she said. “I don’t want to hear it. We’re talking about life and death.”
Gould’s main emphasis is to spread awareness of the disorder. As a former nurse, she leads seminars and screenings at locations around the area three or four times a year. She does this with the help of her doctor in Indiana, Dr. Imran Bajwa.
Bajwa said he has a tremendous respect for Gould.
“She’s not a common person,” Bajwa said. “She came to me some time ago. Just the look in her eyes, the intensity. … After her transplant, I thought, ‘This is a new woman.’”
Bajwa, who said he has four Alpha patients, said they face an uphill battle when it comes to getting attention from the medical community because the disease is so rare. While he said he doesn’t think the disorder should be ignored, Bajwa said he also advocates the responsible use of research dollars.
The ideal solution is to develop a test at birth to detect the disorder. As it is now, by the time it is diagnosed, most people are 40 or older with significantly diminished lung capacity, Bajwa said.
Emphasizing the importance of using screenings that do exist, Gould said, “If you’re not diagnosed and treated, you will die from this.”