Articles
Bc.
Mississauga News Wednesday February 28 2007
Health
Lisgar resident helps open door to new drug
By John Stewart
staff
For years, Guy Ashford-Smith wondered what was wrong with him because he seemed to catch pneumonia every winter and had no energy.
"I beat up on myself , thinking I was just lazy, " the 50 year-old Lisgar resident recalled . He'd go to the doctor each time he fell
ill, but he never sought out the underlying cause; he was just glad to get past the temporary illness.
That is until his doctor took
his blood pressure during a 2001 visit and told Ashford-smith to go immediately to emergency at Credit Valley Hospital(CVH).
He knew
something was terribly wrong whenthe eyes of the nurse became big as balloons after taking his pressure. He lay down to take oxgen,
and woke up three weeks later.
Thus began a process of diagnosis that eventually determined Ashford-Smith has an extremely rare condition
knwn as Pompe disease, a degenerative neuromuscular condition related to muscular dystrophy (MD). It leads to respiratory difficulties
and muscle weakness, especially in the upper legs.
Ashford-Smith, president of the recently formed Canadian Asssociation of Pompe,
knows of only a dozen others in Canada who have the disease.
"I guess that's my lottery ticket," the father of three joked
Life expectancy for Pompe patients, especially babies, who used to die
within a year of birth from the condition known as "floppy baby "syndrome, has risen dramatically because of a pharmaceutical breakthrough
at Mississauga company Genzyme.
The drug, called Myozyme, means Pompe disease is no longer a death sentence for its infant victums.
All of those treated with the drug have survived beyond 18 months.
A juvenile strain of the disease usually attacks children at about
10 years of age and a lateonset condition often hits adluts out the blue.
Ashford-Smith had only seven per cent lung function at the
time of his diagnosis, when doctors told his wife, Heather Anne, to expect the worst.
The drug, called Myozyme, means Pompe disease is no longer a death sentence for its infant victums. All of those treated with the
drug have survived beyond 18 months.
A juvenile strain of the disease usually attacks children at about 10 years of age and a late
onset condition often hits adults out of the blue.
Ashford-Smith had only seven per cent lung functionat the time of his diagnosis,
when doctors told his wife, Heather Anne, to expect the worst.
The Mississauga resident is not a candidate for Myozyme because he's
not on a 24-hour-a-day respirator, or in a wheelchair. Still, he's at the forefront of the effort to have the drug approved for government
funding.
Ashford-Smith met in January with Ontario government officals to explain the benefits of the drug , which costs about $400,000-$500,000
a year per patient.
It's available on an experimental basis for seriously ill patients.
"As the first treatment for this rare and deadly
form of muscular dystophy, Myozyme is opening a door to a new era in treatment for patients,"said Dr. Robin Casey, of Alberta Children's
Hospital . " Prior to Mysome, as physicians we were only able to offer our patients palliative care to treat the symptoms of Pompe,
a disease that takes a terrible roll on patients and their families. "
Helping Others-
Guy Ashford-Smith
President of the recently-formed Canadian Association of Pompe