A nightmare without a name

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A nightmare without a name

Fear strikes every parent with a seriously ill child. Imagine how much worse

the ordeal is when doctors don't know what's wrong

By ANNE McILROY

Friday, June 18, 2004 - Page A17

Eight-year-old Palmer was a toddler when he was diagnosed with a

life-threatening disorder so rare that only about 250 cases have been

identified worldwide.

Against unbelievable odds, both his parents, Randy and Kim, carry a copy of

an extremely rare recessive gene that causes Alström syndrome. Palmer

inherited both copies, and as a result he is prone to obesity and

susceptible to diabetes, heart and kidney failure and liver disease. Some

with this disease die in their teens or early adulthood; most progressively

lose their vision through their childhood.

Palmer is legally blind, although he can see the television up close, read

large print and manage a mean game of Go Fish with enlarged cards. He plays

on a weekly soccer team with the help of a volunteer.

" If he could work on his free kicks, he might score a goal this year, " says

Mr. , who has worked hard to make sure Palmer has as normal a

childhood as possible, as well getting him appropriate medical care.

It hasn't been easy. A significant number of the estimated 6,000 rare

diseases affect children, and many, like Alström syndrome, involve more than

one system in the body. Parents spend years going from specialist to

specialist who have never heard of their child's illness. While a seriously

ill child is every parent's nightmare, coping with a rare disease has unique

challenges.

" You are constantly being told people have never heard of it. You end up

teaching the physicians, " says Mr. .

The family was fortunate in that Palmer was diagnosed when he was

two, but they've met families who didn't know their children had Alström

syndrome until they were teenagers. (They had another child before they

found out they were carriers, but , now 7, didn't get the genes that

cause the disease.) But other families of children with rare diseases are in

limbo for years waiting for a diagnosis.

Kim Cornish, a McGill University researcher, is an expert in several rare

genetic disorders that cause mental retardation in children, including

fragile X syndrome. More than once, she has seen families that have had two

or three children with fragile X, an inherited form of mental retardation,

before a younger sibling is finally diagnosed. Yet early diagnosis can be

key in helping a child develop to his or her full potential. " When it comes

to less well-known syndromes, parents can get quite a raw deal, " she says.

Many rare disorders that affect children have their own behavioural quirks.

Children with Angelman syndrome, for example, have trouble talking and have

prolonged paroxysms of inappropriate laughter. Parents have to fight to get

the help their children need at school. At the same time, they have to cope

with their own grief and sense of loss.

Mr. 's way of dealing with his son's illness was to reach out to

other parents of children with Alström syndrome. He helped organize an

international conference, raised money and founded Alström Syndrome Canada,

a registered charity. At times, it was hard. He met families with older

kids, and got a glimpse of where Palmer may be heading. They know families

who have lost children at the ages of 14, 15 and 22.

He also reached out to families across the country with other rare

disorders, becoming the president the Canadian Organization for Rare

Disorders, or CORD.

With only 10 families in Canada affected by Alström syndrome, there is

little chance they can solve many of the problems that face people with rare

disorders. But if they join forces with the estimated three million

Canadians who suffer from rare diseases, Mr. says they could become

a force that politicians and policy-makers would have a harder time

ignoring.

So much needs to be done, says Maureen Gaetz-Faubert, founder of CORD. New

legislation to encourage research into new drugs for orphan diseases is

essential, and Canada lags behind the United States and other countries on

this. Patients also need a way to find doctors familiar with their disease.

Some sort of national centre or clinic for people with rare disorders would

be a good first step, she says.

In her case, it took 30 years before doctors determined she had

Ehlers-Danlos, a disease characterized by fragile connective tissue that has

left her with severe gastrointestinal problems. Now she is trying to help

her daughter, Renée, 13, who suffers from the same disorder.

Renée is tiny, about the size of a 10-year-old. She misses school two to

three times a week with flu-like symptoms. For years, she suffered from

breathing problems that doctors believed were caused by asthma. Now tests

show asthma is not a factor. Ms. Gaetz-Faubert says her daughter is slowly

being weaned from the inhaled steroids she has been taking since she was a

toddler, but doctors have no idea what the next step in her treatment will

be. She doesn't know any other people with the syndrome who have similar

symptoms.

" I feel so alone, " she says.