Only one year ago, in July of 2017, a conference was held for families and individuals impacted by a chromosome 17q12 disorder. Those in attendance had come from all corners of the United States and were just meeting for the first time at the conference, but they shared common goals and quickly formed a board consisting of four parents and a genetic counselor. Within six months, they received the official 501(c)3 designation from the IRS to operate as a nonprofit organization by the name 17q12 Foundation.
Photos care of Liz Fourie
Liz was one of the founding members of the 17q12 Foundation. Her son Zander is a hilarious, sweet, and smart seven-year-old who also happens to have a rare chromosome disorder, chromosome 17q12 deletion syndrome. Simply playing with friends, completing school work, and going on a walk can wipe him out and cause him to feel ill. After doctors spent a year actively searching for a diagnosis to explain - among other things - his increasing fatigue and muscle weakness, they finally discovered the cause of his unexplained symptoms. However, the diagnosis was accompanied by many unknowns.
Because Zander was his first patient with this chromosome deletion, Zander’s geneticist suggested Liz and her husband go home and find other 17q12 families who might be able to shed additional light on the syndrome. Liz soon thereafter stumbled across a Facebook page for chromosome 17q12 disorders and found other families experiencing similar obstacles. She learned that Zander is not the only child with this syndrome who is impacted by unexplained fatigue. Unfortunately, that is where the clarification Liz sought ended. Though the puzzle pieces seem to all be on the table, doctors desperately need to conduct further research to put those pieces together.
Photos care of Liz Fourie
One hundred percent volunteer-run, the 17q12 Foundation directs all donations it receives into achieving its goals of funding critical research, raising awareness, and providing support for 17q12 families. This work essentially being done in the dark can be arduous and exasperating, so Liz is thankful that Zander brings joy to his family’s journey each and every day through his awesome dance moves, infectious laugh, and enthusiastic movie reviews.
Does figuratively boogieing alongside Zander sound like something you’d like to do? We can help you make that happen. Use checkout code GIVE761 whenever you purchase PLAE shoes and 10% of your purchase price will be donated to the 17q12 Foundation. You can also find them on Facebook, Instagram.