The Freed family
BY BECKY OSTERWALD
Imagine the thrill and happiness of parents at the arrival of twins, Riley and Maxwell March 27, 2017. Then to find four months later Maxwell tried to use tiny hands but could barely move. Friend and doctors told the parents, Amber and Mark Freed of Denver, not to worry, Maxwell would catch up. Sadly, however that did not happen.
Two months later, in May, the Freed family was “led to a cold, sterile diagnosis room at Children’s Hospital where doctors confirmed the unspeakable. Maxwell had a rare, sad and completely unfair genetic disease that was essentially wreaking havoc on his neurological system,” Amber has said.
The disease is so rare, it is only known by letters and numbers — SLC6A1. This is the gene that controls the gamma-aminobutyric acid that is the largest inhibitory neurotransmitter in the nervous system. It is also what is missing in Maxwell’s genome.
The only hope to save Maxwell is research in gene replacement therapy at University of Texas Southwestern Medical Center in Dallas, Texas. The procedure is designed to give Maxwell the gene that will produce the needed protein before the onset of debilitating form of epilepsy and he starts losing everything that he has learned which will happen between 3 and 4-years old.
Riley and Maxwell on their first birthday.
The catch according to Amber, the procedure will cost $1 million. So, the Freed family started a nonprofit organization to raise the funds before Maxwell is robbed of a normal life.
This research is also possible to unlock other diseases like autism, schizophrenia, bipolar and ADHD.
For more information contact Amber at Afreed@SLC6A1connect.org. Donations are accepted at milestonesformaxwell.org or at the GoFundMe page gofundme.com/slc6a1-connect.
A poster detailing what Monogenic Disease is and how gene therapy works to correct it.
2018 All Rights Reserved. Villager Publishing |