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Ice skating for rare disease research

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Thursday, November 18, 2010

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Four-year-old Liam Ward is one of a kind and just like his favourite superhero, Spiderman, that title comes with its challenges.

Liam was born with a rare form of Bartter’s syndrome, so rare it took almost two years of specialists’ appointments, trips to Vancouver, DNA testing, and a German research team to diagnose him.

Michelle and Ryan Ward, Liam’s parents, don’t want other parents to go through the same ordeal.

The Ward family is participating in the BC Children’s Hospital third-annual Lace Up For Kids fundraiser being held later this month for rare disease research.

“We were lucky with Liam, he got diagnosed,” said Michelle.

Not everyone does.

A rare disease is something that affects one in 2,000 individuals or less, which amounts to less than 10 per cent of any given population. There are approximately 7,000 rare diseases worldwide and due to limited funding for research, 50 per cent of rare diseases go unnamed and about 30 per cent of the ones that are defined are too rare to be deemed worthy of funding.

In B.C. 200,000 children are living with rare and ultra rare disorders.

In Liam’s case, it was the dissatisfaction with inconclusive answers and the not giving up attitude from his parents that finally resulted in a diagnosis. They were tired of sleepless nights and of doctors repeatedly telling them that their son was failing to thrive, but not having a concrete answer as to why.

When Liam was born, a month premature, he had abnormally low levels of sodium in his blood, and was excessively urinating – both symptoms of Bartter’s syndrome, which is an electrolyte-wasting disorder. However, after being referred to the nephrology department, which specializes in kidney disorders, at BC Children’s Hospital, Bartter’s was quickly ruled out.

Liam was taking up to nine medications a day to boost his sodium and potassium levels, to stop the excessive vomiting, to keep his kidneys from absorbing too much calcium, etc.. But he still continued to deteriorate.

“He was throwing up five times a day, he was guzzling liquids, but couldn’t keep them down,” said Michelle. “We were stressed-out wrecks.”

Not knowing why their son was so thirsty and why he urinated excessively and why he vomited multiple times a day, and becoming more and more concerned with his lack of weight gain and the increasing calcification of his kidneys, a condition that could lead to kidney stones, his parents pleaded with a genetic counsellor to help them find a concrete diagnosis for their son.

The counsellor recommended Liam’s DNA, as well as the DNA of his parents be sent to a laboratory in Germany for genetic testing.

Almost two years after Liam was born, and almost two years of fighting an undiagnosed illness, Liam was finally diagnosed – with Bartter’s syndrome.

Bartter’s is an electrolyte-wasting disorder that is more commonly associated with the middle east, very few in Canada have the syndrome, and not one has Liam’s form of it. The German scientists discovered a unique, never before documented mutation in Liam’s DNA that was the result of two recessive genes, one from his mom and one from his dad, coming together.

“When Liam was diagnosed, we definitely had some genetic guilt,” said Michelle. “We never foresaw anything like this happening.”

But there was also relief.

Liam was put on a new treatment regime that was specific to his needs. And after just 10 months, he had gone from being in the negative three percentile for growth in his age group up to the 25th percentile. After 16 months, he was in the 50th percentile. He was drinking less, urinating less, eating more.

“The genetic testing was fundamental in helping to define the most effective treatment,” said Michelle. “A diagnosis at the most molecular level provided us with information ... which was physiologically relevant.

“If there’s more funding for rare disease research, maybe more treatments could be found, and more kids could be helped,” said Michelle.

FUNDRAISER:

The University of British Columbia REC, in partnership with BC Children’s Hospital, is hosting the third annual Lace Up For Kids fundraiser on Nov. 26 at UBC Thunderbird Stadium. Participants aim to skate 25,000 laps, collectively, and raise $100,000 through pledges to support life-saving research through the Rare Disease Foundation.

Anyone interested in supporting Liam Ward’s team – Liam and the Electrolytes – can do so online at https://secure.bcchf.ca/SuperheroPages/team.cfm?Event=LaceUp&Team=642.

 

© Copyright Black Press Digital.

Author: By Katie Bartel
Source: BCLocalNews.com
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