ONCE UPON A GENE - EPISODE 044 - A Mother’s Crusade to Find a Cure for Her Son - Amber Freed

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Amber Freed is the mother of twins, Maxwell and Riley. At a year old, Maxwell was diagnosed with a disease too rare to have a formal name, referred to as SLC6A1. When Amber was told nothing could be done, she decided to fight. She left her career that day and shifted her focus towards a treatment. She's a leader in the rare disease community and is the founder of SLC6A1 Connect.

EPISODE HIGHLIGHTS

Give us a little background on the beginning of your journey as an advocate?

I was raised in a household afflicted by drug and alcohol abuse. I have two younger twin sisters and I filled the adult role in the house where it was needed. When I turned 18, I became their legal guardian. As a child, I had the weight of the world on my shoulders, but it gave me a tremendous sense of grit and determination. 

Tell us about your kids coming into the world and becoming a mom.

Riley and Maxwell were so loved before they were ever born. We went through two years of IVF to be blessed with twins. They were born a little early and were perfect. We brought them home from the hospital and everything was going wonderfully. At about 4 months old, I realized Maxwell wasn't doing the same things as Riley. 

What started you on a mission to get answers about Maxwell's development?

My pediatrician kept saying that boys are slower than girls. My mother's intuition said something was wrong. Riley was inquisitive, reaching for toys and exploring her environment. Maxwell seemed like he was just stuck in his body. From 4 months old to 9 months old, my pediatrician's tone changed. One of our first meetings was with an optometrist because we thought Maxwell couldn't see well. The optometrist confirmed that he could see. He explained that he had seen similar situations that were actually something wrong with the brain and that we would need to get genetic testing. It took about 6 months to get the results back and Maxwell just kept declining. 

What were the results of the genetic test?

We were led to a bad news room full of doctor's with sad faces. They told us Maxwell was diagnosed with SLC6A1 and I was so confused as to why it didn't have a name. They explained it was too rare to have a name and was only known by its genetic location. They knew nothing about the disease and they gave us an article that had been written about the disease. There are 7000 rare diseases and Maxwell is 1 of 34 people in the world with SLC6A1. We were left with the suggestion that Maxwell was too rare for anyone to care and to go home and enjoy him, that doctors couldn't help us. 

Calling a scientist in Denmark was the beginning of your crusade. What has happened since then?

The day we got Maxwell's diagnosis, I went back to work, resigned from my job and set off on this journey. I called people all over the world, read every text book imaginable and when I contacted someone that wasn't able to help me, I asked for three connections to other people who may be able to help. I kept doing that until I became an expert in the disease. I realized through my research that SLC6A1 is treatable and curable through gene replacement therapy. All of my efforts from that point forward were focused on gene replacement therapy. A scientist I had been trying to connect with finally called me back, explained that he was going to a conference and that he was too busy to talk, so I flew to the conference to connect with him. He explained to me that the technology existed to replace the gene, but that it was going to be a difficult journey and that $4M-$7M had to be raised. 

How much money have you raised so far?

I raised $2M of our $4M goal in a year and a half and it has already gotten us far. We completed the tests in mice, we've constructed the gene replacement therapy and the next steps are to file an initiation for a new drug with the Federal Drug Administration and begin the clinical trial to treat children. If we can raise the money and things go as planned, we'll be able to start the trial as early as next year. 

What advice do you have for the listeners?

Don't lose faith, don't lose hope, and keep trying because science is moving quickly. No one ever wants to join the rare disease community, but we're a group of close-knit and warm people willing to help each other.

LINKS AND RESOURCES MENTIONED

SLC6A1 Connect

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