A nightmare without a name

[Guest guest]

http://www.theglobeandmail.com/servlet/ArticleNews/TPStory/LAC/20040618/HDIS

EASE18/TPHealth/

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...

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. ...

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. ...

[Guest guest]

Boy can I relate to this story. Thanks for sharring.

HUGGLES,

Grace

A nightmare without a name

http://www.theglobeandmail.com/servlet/ArticleNews/TPStory/LAC/20040618/HDIS

EASE18/TPHealth/

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...

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. ...

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. ...

To learn more about EDS, visit our website: http://www.ehlersdanlos.ca