After two years of in vitro fertilization treatments, Amber Freed, Age 38, and her husband Mark Freed of Denver, Colorado welcomed their twin babies Riley and Maxwell into the world. At four months Riley met all the normal milestones, but Maxwell was not reaching for his toys or rolling over as expected. Something was wrong.
During a recent interview with PEOPLE, Amber described their devastation when the couple was told one year later that Maxwell has SLC6A1. The rare disease has no name, no treatment, and no cure.
Amber’s immediate reaction was that she was not going to let this happen. Although Maxwell was diagnosed with the disease, he had not yet shown symptoms. The disease would eventually cause severe speech and movement disorders, seizures, and would affect Maxwell’s intellectual ability. In essence, it is a severely crippling type of epilepsy. Amber describes it as the lowest and darkest moment of her life as she thinks of Maxwell as the most loving little boy in the world.
Amber and Mark were told that it could take millions of dollars to develop a drug and set up clinical trials, but this did not deter Amber. She realized that it would take time, but she also realized that the disease could take hold before the fundraising efforts had been completed.
An Unknown Disease
Maxwell’s doctors were unable to tell Amber whether Maxwell would live or not. There was no information about the disease except for one article Amber found in a Danish publication.
Maxwell’s doctors acknowledged that they were not familiar with the disease and encouraged Amber to “become an expert” then educate them. Amber accepted this advice and decided if there was any hope for Maxwell it must be generated by Amber and Mark.
Amber immediately left her job as a financial analyst and began contacting scientists hoping they would work with her to create a curative drug.
Amber displayed a true sense of urgency when she had been unable to get the attention of Steven Gray, a scientist at Southwestern University. Amber flew to Washington, D.C. to see him when she found out that he was attending a conference in the area. Her effort was rewarded. After she described her situation, Dr. Gray agreed to work with Amber, and together they created a plan they hoped would cure Maxwell’s disease. They would use gene replacement. They also made plans to set up a clinical trial.
And Now the Cost
Once the plan was laid out, attention was directed to funding. Dr. Gray explained that it would be costly, probably in the area between four and seven million dollars. Amber was not put off by that amount. She would make it work. Amber knew that she could never live with the knowledge that she did not do everything possible to make it work.
Two Million in Two Years
Amber went all out raising money through crowdfunding (mostly GoFundMe). In two years she was able to raise two million dollars which helped fund a clinical trial.
Mice With Similar Genetics
Last year a breakthrough developed when the team discovered mice in China that had genetics similar to Maxwell’s. These mice normally cost fifty to seventy-five thousand dollars. Amber again showed her creativity by convincing the Chinese scientists to release the mice without cost to Amber or her team.
The team tested the gene replacement process in the mice to be certain it was safe. Amber said that they feel confident that the therapy is safe, that it has been developed, and is now waiting for FDA approval.
About the Treatment
Patients with the disease receive a spinal tap introducing the body to the new gene by way of a non-toxic virus. The infusion lasts two hours. The virus enters the brain by traveling through spinal fluid. It attacks DNA mutations and uses good copies of DNA to alter it permanently.
Time is of the Essence
This debilitation disease generally strikes between the age of three and four. If not treated by then, Maxwell faces irreversible damage to his brain. Amber calls it a death sentence. Then there is the ever-present coronavirus which has caused many academic labs in the U.S. to shut down.
On a positive note, Amber says that there are still some labs open in Europe and the team can work with them. Still, she acknowledges that they not only need FDA approval but another two million dollars to create the drug and run the clinical trial.
Amber asks people to visit their website: www.SLC6A1Connect.org for more information.