DENVER — Birthdays in a child’s life are a celebration of milestones. New words, new abilities and new interests help mark the passage of time.
It’s something Amber and Mark Freed will experience next month at a second birthday party for their twins, Riley and Maxwell. But, on what is a joyful day, there will be sadness too.
That’s because as they watch Riley progress, they’ll see Maxwell decline.
The twins were just a few months old when they first noticed the difference. It took several visits to doctors and specialists to get a diagnosis. Maxwell has a rare genetic disease that is wrecking his neurological system. It is so rare it was just discovered a only few years ago. It is known only by the gene behind it: SLC6A1.
It causes developmental disabilities and leads to the onset of the debilitating form of epilepsy along with regression between ages 3 and 4.
Amber Freed has devoted the last several months to studying this disease and tracking down any and all forms of research. She has discovered Maxwell’s disease is a candidate for gene therapy replacement. Amber says a group of scientists at UT Southwestern Medical Center in Dallas are willing to develop the therapy that would help children diagnosed with this disease. Amber said the advanced treatments could also help others with epilepsy, autism and schizophrenia.
The research comes with a price tag: $1 million.
The Freeds need to raise that money in the next year in order to fund a clinical trial. They have started a GoFundMe effort called “Milestones for Maxwell.” You can access that here: https://bit.ly/2IuwhPr
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