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PLAE-it-forward + Tammy

November 1, 2018 470 Views

When Tammy’s now-five-year-old son Hudson was two years old, he became the 38th person in the world to be diagnosed with a very rare genetic condition called GAND (GATAD2B Associated Neurodevelopmental Disorder). It was May of 2016, and up to that point doctors had been at a loss to explain what was causing Hudson’s developmental delays and persistent respiratory illness. If not for the availability of whole genome sequencing, Hudson might still be receiving therapies to help with his low muscle tone without his parents or therapists knowing precisely why he was not meeting the typical developmental milestones.

GAND severely affects speech, and most people who have it are also diagnosed with apraxia (a disorder of the nervous system that makes it difficult for people who have it to perform purposeful movements, but not due to a lack of understanding or paralysis). GAND can also affect cognition, along with fine and gross motor skills. In other words, a diagnosis of GAND is a world-rocking, completely-life-altering event.

Photos care of Tammy Ruh

“I was devastated when I found out Hudson wasn’t going to just ‘outgrow’ whatever it is that was causing these delays,” Tammy shares. “That night, when I got home from our genetics appointment, I was able to find this incredible group called Helping Hands for GAND (HHFG). It is the only organization in the world dedicated to this disease. They were there to bring us families together and provide a forum for us to give each other support.”

Photos care of Tammy Ruh

With still only about 100 people in the world currently diagnosed with GAND, HHFG is like a second family to Hudson’s family and other families impacted by GAND. “Currently, the closest family that lives to us is in the next state, but having the support and community online has been so amazing,” Tammy says. “It often times can feel very lonely because [GAND] is such a rare disease, and having the support of others who know what you are going through means so much.”

HHFG raises awareness of GAND and other rare diseases, along with connecting those diagnosed with GAND both online and off. Additionally, HHFG is working to create research and treatment opportunities for those with GAND, an important part of which is establishing and funding a patient registry. Unbeknownst to many of us living our daily lives outside the world of medical research, establishing a patient registry is a very important step in increasing research opportunities because registries can provide researchers with first-hand information about people with certain conditions, both individually and as a group, that can ultimately increase understanding of the conditions.

If you like to support nonprofit organizations that put your money to work immediately in the most powerful ways to directly help those in the greatest and most urgent medical need, Helping Hands for GAND is one of those nonprofit organizations. You can donate to them directly, and you can also use checkout code GIVE895 when you purchase your PLAE shoes online to have us donate 10% of your purchase price to HHFG.You can also find HHFG on Facebook.