Re: Article from the Toronto Star

[Guest guest]

Thanks for passing this along. I missed it in the paper yesterday.

Loosejoint@... wrote:

>

> This appeared in the Tuesday, Feb. 19th issue of the Toronto Star.

>

> Stealthy syndrome is sometimes fatal

>

> <A

> HREF= " http://www.thestar.com/click.ng/spacedesc=news3_ad_window " >

> </A>

> IN THE competitive world of attracting research backing, Ehlers-Danlos

>

> Syndrome is " an orphan disease. " Few people have heard of it; medical

> students only learn a passing reference.

> Yet this is a stealthy disorder that can be fatal and hits thousands

> more

> people than are ever diagnosed, resulting in deaths that could have

> been

> prevented. An Ontario mother, for one, only discovered after her

> 13-year-old

> son died suddenly that she, too, has a high-risk form of EDS and must

> be

> checked every year.

> Understanding the condition's mysteries is key to saving lives.

> It appears as benign. In its most common form, youngsters are labelled

>

> " double-jointed " because they can do weird tricks like bend a thumb to

> touch

> the back of their arm. Most such cases are normal but some, combined

> with

> other symptoms, could mean EDS.

> When Toronto's Tamar Freudmann was diagnosed at 11 through a skin

> biopsy, the

> doctor lightly commented, " You'll make a great ballet dancer. "

> Actively

> athletic with frequent bone fractures, after being in a car accident

> in 1993

> she lost her ability to heal. At 34, she often needs a motorized

> wheelchair

> and can no longer work because of pain and fatigue.

> His daughter's shocking deterioration moved Freudmann, a travel

> agent,

> to create a much-needed endowment at the Hospital for Sick Children,

> the only

> focus on EDS in Canada and one of a handful worldwide. Through

> contacts,

> corporations and family help, he raised some $275,000.

> Dr. Cole, orthopaedic surgeon and geneticist, heads the Sick

> Kids

> laboratory studying three groups of connective tissue diseases — of

> which EDS

> is one — identifying the genes involved, how disease results and

> strategies

> for treatment.

> But that is a long way from a cure or wider, faster recognition even

> among

> medical professionals. Tamar tells of a friend she met through a

> conference

> on EDS, who went to an emergency clinic with terrible stomach pain.

> She

> alerted the doctor that she could be suffering an internal rupture.

> Out of

> ignorance, the physician dismissed her alarm and the woman died.

> As a syndrome, EDS covers six different types of disorders of the

> connective

> tissue — the linkages that support body parts such as skin, muscle,

> ligaments. Each type has a genetic origin though often the family is

> unaware

> of it. The defect is in the patient's collagen, which is the glue that

> adds

> strength and elasticity to connective tissue.

> Some people have fragile skin that tears easily, heals poorly or

> bruises

> severely, or unstable joints that frequently dislocate. Less common

> are

> related heart problems; more life-threatening are intestinal or

> uterine

> fragility or rupture of an artery or organ.

> Diagnosed at a rate of one in 100,000 people — mostly due to delays

> or being

> overlooked — research statistics show actual occurrence as one in

> 5,000 to

> 10,000, affecting both males and females of all racial backgrounds.

> Often, it is only detected on autopsy, when pathologists find tissues

> appear

> to have fallen apart.

> Many families who have struggled to determine why a child is

> " accident-prone "

> dislocating limbs, or why there have been early deaths through several

>

> generations, have learned too late.

> Neumann-Potash, executive-director of the Los Angeles-based E-D

> National Foundation, says she received more than 200 phone calls

> following

> media reports about a conference on the disease.

> For Bell of Ontario, tragedy came with a double wallop. When her

>

> 13-year-old son collapsed on the ice during a hockey game and died of

> a

> ruptured aorta, the autopsy finding of vascular type Ehlers-Danlos

> came as a

> shock. Then came the blow that the gene he inherited had come from

> her. Her

> frequent bruising had been diagnosed in childhood as " nothing to worry

>

> about, " rather than investigated. At 38, she says, " I try to get on

> with my

> life and not think about dying young. I get checked every year. "

> Tamar Freudmann is translating her former physical activity into

> raising

> awareness of EDS. " I have to believe someone will find a way to help. "

>

> Otherwise, " there's no quality of life " once the condition takes hold,

> she

> says.

> An Ontario-based Canadian Ehlers-Danlos Association with close to 600

> members

> whose families have been affected, offers support group meetings,

> online

> contacts, lists of knowledgeable physicians and helps educate school

> staff.

> Their Web site is <A

> HREF= " http://www.ceda.ca/ " >http://www.ceda.ca</A>, or call

> . The American

> foundation's Web site is <A

> HREF= " http://www.ednf.org/ " >http://www.ednf.org</A>.

> Freudmann's goal is to raise $2 million to create a full-time

> research

> professor's chair to boost work in this field. For more information,

> call the

> Hospital for Sick Children Foundation at .

> Ellie Tesher's column appears in The Star on Tuesday and Thursday. She

> can be

> reached at <A HREF= " mailto:etesher@... " >etesher@...</A>

>

>

>

>