Celebrating Life and the Patient
By Meaghan Casey
Diagnosed with Pompe disease as a young mother of three active children, Deb Beaudette was originally told she would never live long enough to meet her grandchildren. That was 20 years ago. Today, she has a granddaughter who is nearly 2 years old and is treasuring every moment she has.
“The disease doesn't define who you are or what you can or cannot do,” said Beaudette. “You define who you are. You are in control of your quality of life. You can choose to feel sorry for yourself and sit quietly in a corner, or can choose to use the help and options around you and get up and enjoy everything before you can't get up anymore.”
Affecting about one in every 40,000 people in the U.S., Pompe disease is a rare, inherited disorder that disables the heart and skeletal muscles. Beaudette began noticing symptoms such as fatigue and the inability to move her legs. She described the feeling as “having heavy weights on her feet.” As her symptoms progressed, her primary care doctor tested her muscle enzymes, which were in the 1,000s, when they should have been in the 60s. From there she was sent to UMass Memorial Medical Center in Worcester and began the nine-month process towards diagnosis.
. After finally identifying a specialist, through his recommended regimen of diet and metabolic exercise, she was able to maintain her mobility and care for her children.
“I told him death wasn’t an option for me,” said Beaudette. “He saved my life.”
In 2010, when Genzyme began its trial for a medication that replaces a missing or deficient enzyme in people with late-onset Pompe disease, Beaudette was eager to participate.
“I thought, why not be a guinea pig and give my life some meaning,” she said.
The clinical trial was a randomized double-blind study and Beaudette had a 50-percent of being a test subject. Fortunately for her, she received the drug, not the placebo. By the third month, she reports that she was climbing hills without needing to rest, her lung capacity improved tremendously and the feeling of weights in her feet was gone.
Because of Genzyme’s trial – of which total of 81 of 90 patients completed – Beaudette also discovered a network of other Pompe patients, who have made an effort to remain connected.
“Genzyme gave me a community,” said Beaudette, who continues to remain vocal as a patient rights advocate.
That sense of support has fueled Beaudette in her journey. She still maintains an active life, with the help of a walker, and credits the combination of water therapy and Genzyme’s enzyme replacement therapy, which she has continued.
“Don’t settle; don’t accept that you’re disabled,” she said. “If you want to learn something or do something, do it. You have to keep moving.”
Beaudette served as a panelist at the 2013 BIO International Convention. She joined multiple sclerosis patient Ron Banks and moderator Kathleen Coolidge, Associate Director, Patient Advocacy – Rare Diseases for Genzyme in the Massachusetts Pavilion for a welcome session entitled “Celebrate the Patient.”