More than two dozen members of a New Hampshire family afflicted by a rare genetic disease embraced the miracle workers behind their life-saving treatment yesterday.
“My husband watched two of his uncles die,” Renee Kuusisto, 36, tearfully told employees at Genzyme’s new Framingham, Mass., plant. “When he was diagnosed, I thought: My husband’s going to die before he’s 41 (the average life expectancy for Fabry disease patients without treatment). Genzyme gave us hope.”
By the time the drug Fabrazyme went on the market in 2003, for some of the family, it was too late.
Ron Hill died in 1994 at the age of 34; his brother, Steve, died seven years later at 39. Two other brothers suffered kidney failure, but survived after transplants — all before any of them had ever heard of Fabry disease, a disorder that globally affects some 6,000 people who lack an enzyme needed to metabolize fat-like substances called lipids.
It was a bittersweet moment, then, when surviving members of the family — 46 of whom have been diagnosed with the disease — met with employees at the plant that manufactures the drug that came too late for some, but has saved so many others.
“When you’re working hard every day with your head down, you’re so focused on your work that it’s easy to forget who’s using the drug,” said Genzyme worker Jason Dunklee. “It’s really refreshing to have the opportunity to meet real people who need it.”
Kuusisto’s father was working at a construction site more than a decade ago when his wife called to tell him that five of their nine children who had been tested had inherited the disease, which, if untreated, can lead to organ failure and strokes.
“I went and sat in my truck and cried,” said Dan Kuusisto, 59, of New Ipswich.
Since then, seven of the couple’s 15 grandchildren also have been diagnosed with Fabry disease.
One of the disorder’s symptoms is a burning sensation in the extremities so Renee Kuusisto’s three daughters, ages 3 to 8, never wear socks because their feet burn, and her husband used to have to put his hands in ice.
A 2009 virus contamination at Genzyme’s Allston manufacturing plant led to a shortage of Fabrazyme, the only federally approved treatment for Fabry disease, forcing patients to scale back on their twice-monthly treatment, which costs about $200,000 annually but is covered by health insurance.
Genzyme’s troubles sparked lawsuits over the Fabrazyme shortage and weakened the Cambridge-based company, helping to make it a takeover target for now-parent Sanofi.
“I didn’t realize how bad the pain was until we had no more treatment,” said Dan Kuusisto’s other daughter, Sandra Stenersen, 31, of Rindge, N.H.
Genzyme resumed shipping the drug this year after the Food and Drug Administration in January approved the new Framingham plant, which is dedicated solely to the production of Fabrazyme. For patients, it meant a return to full dosing and some semblance of peace.
“When I found out the FDA approved the plant, my heart skipped a beat, knowing there was an end to this,” said Stenersen, who passed the disease on to her children, Ty, 8, and Desiree, 11.
Ty’s hockey coach used to admonish him for not playing hard enough, she said, because he never worked up a sweat, one of the disease’s symptoms. Her son actually envied his teammates because they could perspire. But on Monday night, after he finished hockey practice, Stenersen said, he took off his helmet and said, “Mom, feel my forehead! I think I’m sweating!”
At moments like that and like yesterday, when dozens of the people involved in making the drug came to meet the family, her heart swells, and she said she can find hope for the future.
“There’s so many people working toward making our life better,” Stenersen said.
© 2012 the Boston Herald
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