Push for Alpha-1 screenings helps to deter misdiagnoses
Helen “Cathy” Gould, 70, of Shelocta can finally take a deep breath after a lifetime of struggling to do just that.
Gould, who was born and raised in Ford City, lived most of her life dealing with fatigue and chronic breathing problems — which, in her case, was a combination of symptoms misdiagnosed as asthma.
As a registered nurse working in the oncology and hospice unit at Citizens General Hospital in New Kensington, Gould suspected her loss of appetite, nagging cough, breathing difficulties and low immunity might be due to something other than asthma.
It turns out she was right.
At the age of 55, Gould went to the Cleveland Clinic and was diagnosed with Antitrypsin Deficiency (Alpha-1), a hereditary disorder affecting the lungs and liver.
And she is concerned that many suffering from this chronic disorder are being misdiagnosed as she had been.
She is teaming up with a pulmonologist from Indiana County, Dr. Imran Bajwa, to help educate people about the disease and organize Alpha-1 screening sites.
The test, she said, is a simple finger prick.
According to Bob Campbell, communications director of the Alpha-1 Foundation, screening programs are important because less than 10 percent of people with Alpha-1 have been identified.
Campbell said that guidelines from the American Thoracic Society and the European Respiratory Society recommend screening people suffering from chronic obstructive pulmonary disease (COPD).
There are at least 100,000 people identified as having Alpha-1 in the United States.
Four people were recently found to have Alpha-1 in the Indiana County area following the screening program, said Gould.
“It's so insidious,” said Gould. “It's the number one reason for a liver transplant in a child and the third foremost reason for a lung transplant in an adult.”
According to Alpha-1 Association literature, the disorder is genetically passed down from parents to children. People are considered carriers if they have one normal gene and one defective gene. That means it is possible to pass the defective gene on to their children.
An estimated 20 million people nationwide are undetected carriers.
Gould's parents and two of her siblings died from Alpha-1: Her brother at age 42; her sister at 68; her mother at 79, and her father at 56.
“My daughter Patti is a carrier,” Gould said. “You don't know how nerve-wracking it is. I never want her to live this.”
In Gould's case, her symptoms became apparent when she was 30. In 1987 she weighed only 89 pounds.
Campbell, who has Alpha-1, said people like him have very low levels of the alpha-1 antitrypsin (AAT) protein which is made in the liver.
“That protein is a major protector of the lungs,” he said. “But we (those with Alpha-1) don't have that natural protection, so we need to have augmentation therapy.”
Augmentation therapy is the process by which purified alpha-1 protein is administered to a patient through an IV.
Gould was lucky to receive a double lung transplant in October 2011 when she was found to be a perfect match for a set of lungs belonging to a Vietnam veteran donor.
Incredibly, she was called in for surgery at a Pittsburgh hospital after being on the transplant list for only 45 minutes.
Her old set of lungs were only functioning at 21 percent, she said.
After her surgery, she started to feel better instantly.
And that first deep breath?
“It was the most beautiful feeling,” she said.
Now she must take anti-rejection medication for the remainder of her life and she receives augmentation therapy in her home once a week.
The total cost of her therapy and medication is $27,000 every three months, she said.
But she is grateful that with her insurance, she only has to pay $200 a month out of pocket for her treatment and is able to receive her therapy at home.
Both Gould and Campbell noted that home-based therapy is unavailable to patients with Medicare. Those patients are required to get treatment at hospitals or medical centers where the risk of exposure to germs and infections is higher.
That's why Gould continues to advocate for the right of Medicare beneficiaries to have access to the same therapeutic options, like the in-home augmentation therapy that she receives.
Brigid Beatty is a staff writer for Trib Total Media. She can be reached at 724-543-1303 or firstname.lastname@example.org.