Twenty years ago Maureen Smith’s optimism and hopeful outlook was starting to wane. Her body was deteriorating and everyday activities were a struggle. A rare hormonal disorder continued to wreak havoc on her body – as it had since she was born.
Maureen has congenital panhypopituitarism. Diagnosed at age 8, doctors discovered Maureen’s body didn’t produce growth hormone and there was no stimulation to her endocrine glands. Her growth was stunted and she had the skeletal composition of a four year-old. But as a child Maureen had hope. She was enrolled in a clinical trial for human growth hormone in Montreal that would replace what her body could not produce.
“I received the drug for six months at a time. For six months I would feel sluggish and ill but then I would get the drug and for the next six months I would feel normal,” says Maureen. “The trial worked very well and I grew to just over five feet.”
But the trial was for children and at age 18 Maureen withdrew herself to allow another child to take her place. Years later a synthetic version of the growth hormone was developed but it was again only approved for use in children. Over the next 20 years Maureen began to deteriorate. She fractured her back and had to begin using a walker, fat began to encase her heart and she was in and out of the hospital. Maureen was determined not to let her disease dictate her life. She began searching for a way to gain access to the new synthetic hormone, and she needed a doctor who was willing to help.
“When you’re very ill all you concentrate on is getting better.”
After years of letter writing and fighting for access to the medicine she so desperately needed, at age 38, Maureen was admitted to a new clinical trial providing the synthetic hormone to adults. It was instant relief.
“It changed my life. I threw away my walker, began riding a bike and laced up my skates,” says Maureen. It took seven years for her doctor to find the right dose but now Maureen’s condition is under control. “I’m healthier now at 53 than I was at 25. I have a quality of life now that I never dreamed of in my 30’s.”
That new quality of life includes her recent marriage to Jim McQuaid. “It’s difficult to meet people when you have an illness,” says Maureen. “When I got better I was able to find a wonderful man and we have a terrific life together. I wouldn’t have any of this without my new medication.”
There are good days and there are some bad but Jim takes them in stride and is thankful for the new life they have together. “There are some stresses but for the most part she functions very well. I’m always amazed at how a handful of pills can change a person in a couple of hours,” says Jim.
Maureen now focuses her attention on the needs of others, working for the Canadian Organization for Rare Disorders (CORD), a national network for organizations representing all those with rare disorders. CORD is currently advocating for a national orphan drug policy for the treatment of rare disorders. “I’m very passionate of the work I do with CORD,” says Maureen. “Only fifty percent of the medications available for rare diseases are available in Canada. I know first-hand what it’s like not to have access to a drug.”
“Without her medicine, I presume she would be lying in a bed somewhere and I wouldn’t have met her,” says Jim.
Maureen also takes the time to share her story with others and using opportunities to meet with researchers to thank them for the daunting work they do. “I always say thank you and to please continue working. I am the embodiment of what they do and I am standing here today because of their research.”
There is a lot of work to be done but Maureen is hopeful for the future. “I always had hope, I didn’t give up but it was very difficult. Now all I see is the future and I take care of myself so I can make the most of it.”