miércoles, 18 de febrero de 2015

Help us improve the lives of people living with ED - Ectodermal Dysplasia community - RareConnect

Help us improve the lives of people living with ED - Ectodermal Dysplasia community - RareConnect


Online Communities for Rare Disease Patients
“I want to sweat because my children can’t” - 
the fundraising efforts of a father whose sons 
have ectodermal dysplasia

Help us improve the lives of people living with ED

"I want to sweat, because my children can’t"
MAKE YOUR DONATION: http://www.mgda.es/r/1/5604
Written by RareConnect Team, published 8 days ago.
My name is Ignasi Serrahima, I am 45 and I have a pretty healthy life although I haven’t been doing any regular exercise for a few years now. This will be the first marathon I have run in my life. 

Last October, while I listening to the radio program "The Midnight Club” on Cataluña Radio, I heard they were looking for someone to run the Barcelona Marathon on their behalf. In that very moment I thought: what would be the only reason for me to bear the torture of five-month’s training to get ready to run the Barcelona Marathon? The answer was clear: I would only do it for my children.

I have 4 children, 2 girls and 2 boys. Both boys, Xavi and Manuel were born with the genetic disease Ectodermal Dysplasia. This is a rare disease that affects 1/5.000- 10.000 newborns, for which it doesn’t exist a specific treatment. Basically, Ectodermal Dysplasia affects the ectoderm: skin, teeth, hair, nails, eyes, nose, throat… There are over 200 forms of Ectodermal Dysplasia.

They have a reduced ability to sweat, because their skin’s lack of sweat glands. Their body cannot control its temperature properly; they suffer heat intolerance, which can lead to a dangerously high body temperature, increasing the risk of permanent damage to brain cells. They usually suffer from partial or complete absence of teeth, which significantly affects their daily lives. They have been using dental prosthesis since they were 3-4 years old and dental implants as adults. They have blonde, sparse hair with slow growth and reduced mucus in their noses that leads to abundant bleeding.

This disease is almost unknown in the health system. We spent 5 years going to different doctors: pediatricians, dermatologists, orthodontists and prosthetic technicians. This inspired me to take part in the Marathon and try to raise the 14.800€, in order to launch a research project into the genetic basis of the disease, carried out by the Spanish Association for Ectodermal Dysplasia. It is vital we identify the mutations that cause the disease in order to provide genetic counselling, prevent new cases in the families and select possible candidates for more specific treatments in future.

Join me on my big challenge: sweating as much as my children cannot sweat by running a marathon and raising money to support research. 

Thank you for reading my story and for your generous donation.

MAKE YOUR DONATION: http://www.mgda.es/r/1/5604

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