Cure GM1 September 2016 Update

Read the latest updates from the Cure GM1 Foundation below!

Porter’s 4th Birthday Fundraiser in Auburn, Alabama

The Heatherly family have been such amazing advocates for their son Porter who has infantile GM1.  We are so truly grateful for their support to help cure GM1 Gangliosidosis and the intravenous gene therapy program.   As with all children who are affected by GM1, the disease continues to take a tremendous toll on this sweet boy.  Our thoughts are with the Heatherly family as always.

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If you are in the Auburn, Alabama area, Porter’s fundraiser will in on October 1st at the Auburn University Club.  Please see http://www.curegm1fundraiser.eventbrite.com  for more details.  They are looking for auction items and sponsors as well.

Join the Cure GM1 Task Force!

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A small team of GM1 dedicated and passionate parents currently composes the Cure GM1 Task Force.  The role of the task force is to provide a forum for parents to help the Cure GM1 Foundation and to help organize fundraising efforts.

The task force structure consists of monthly conference calls, a mailing list, and a private Facebook group.  There’s lot of brainstorms and members of the group lend their skills, support, and talents to each other and the foundation.

If you have great fundraising ideas or just want to help, we’re all ears!  If you are interested in joining,  please contact us.

Run to Help Cure GM1

Participate Virtually, Purchase a Running Shirt, Sign Up!

No order minimums for this t-shirt campaign! Join us for the Berkeley Half Marathon! Buy a shirt to help us raise money to get GM1 Gangliosidosis gene therapy to clinical trials!
Multiple male and female styles available!
T-shirts: https://represent.com/run-represent-hope-help-cure-gm1

To Donate, to join the team,  and to find more information about the race team, check out CrowdRise! https://www.crowdrise.com/CureGM1BerkeleyHalfTeam

The Berkeley Half Marathon will be taking place on November 20 and some awesome runners will be using it as an opportunity to fundraise for this amazing cause to help save children’s lives.

Holiday Tea for a Cure

Volunteer, Donate an Auction Item, Mark Your Calendar!

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On December 18th at the Berkeley City Club in California, Cure GM1 will be hosting a holiday tea and auction.  If you would like to contribute and auction item, please mail them to the foundation by December 1st and please contact us to let us know what you are sending.   Volunteers  are also needed.  To attend more details to follow!  It will be a lot of fun with Santa, entertainers, and delicious food in a beautiful historical location.

 

Meet Lenka From Poland

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Thousands and thousands of miles away in Poland, a beautiful, sweet girl named Lenka suffers from GM1 Type 2.  Lenka was born on August 18, 2004.   Lenka’s early childhood proceeded normally and her sociable and bold personality emerged.

At the age of five, Lenka first developed what appeared to be insignificant symptoms. She often stumbled and fell more often than other children her age.  A neurologist helped investigate the cause. The neurologist noticed a slight decrease in muscle tone in the legs and developmental coordination disorder called dyspraxia.   The neurologist reassured her parents and told them not to worry .  The doctor seemed unconcerned and commented that she might not become a ballerina.

Unfortunately, in spite of sensory integration therapy, hippotherapy, and swimming therapy,  at the age of 7, new disturbing symptoms emerged.  The array of symptoms included slurred speech, blurred drawings, stacking problems, leg pain, and problems with balance.  After many medical tests and procedures, doctors misdiagnosed Lenka with “dyspraxia of unknown etiology.”

Finally, in 2012,  Lenka’s parents continued their search for a true diagnosis, knowing in their hearts that something more insidious afflicted their sweet girl.   After years of searching,  Lenka was diagnosed with GM1 Gangliosidosis at the Children’s Health Center in Warsaw.

Unfortunately, Lenka’s diagnosis story bares many similarities to many other children affected by GM1. The correct diagnosis is truly hard to find and can take many years to obtain.  The prolonged time to diagnosis reduces the possibility of early intervention.  Furthermore, there is no treatment for Lenka or any other person afflicted by GM1 Gangliosidosis and all the interventions are only intended to increase quality of life.

The hope for Lenka and all those affected by this cruel disease is medical research.  As a result, Lenka’s family recently contributed a $5000 donation to the Cure GM1 Foundation to the gene therapy program.  The Cure GM1 Foundation thanks Lenka and her family for their generosity and support.  Together we can make a difference even when we are worlds apart.

 

Intravenous Gene Therapy Program Update

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For more detail’s, please see last month’s post.  Rest assured work is proceeding!  The first Pre-IND (investigational new drug) meeting with the FDA will be scheduled before the end of the year.  The feedback from the FDA will determine the next steps in the research to send in the full IND application for the clinical trial.

If there was ever a window of time when we need your support, it is now!  Clinical trials can not be conducted without adequate financial resources. 

Please consider a donation now to help support the next steps to make the gene therapy trial a true reality.  These could potentially and hopefully be the first steps towards the end of GM1.

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