How one dad or mum is elevating cash to fund analysis into uncommon illness SLC6A1

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How one dad or mum is elevating cash to fund analysis into uncommon illness SLC6A1

The one factor Amber Freed ever wished was to be a mother.Like lots of people, she and her husband Mark had a tough time conceiving. However after


The one factor Amber Freed ever wished was to be a mother.

Like lots of people, she and her husband Mark had a tough time conceiving. However after two years of IVF remedies, the Denver couple received a double dose of excellent information: Amber was pregnant with twins.

Maxwell and Riley had been born on March 27, 2017.

“They immediately modified my life and made me so pleased,” Amber stated.

However whereas the twins got here into the world collectively, they did not develop on the similar tempo as they grew. Once they had been about 4 months previous, Amber and Mark seen the distinction: Maxwell wasn’t reaching for toys or his bottle like his sister did – he did not use his arms in any respect.

After six months of genetic testing, Maxwell was recognized with a illness so uncommon it does not actually have a title. As a substitute, it is recognized by its genetic location: SLC6A1. On the time of Maxwell’s prognosis, there have been solely 50 recognized circumstances on the earth.

“I simply keep in mind considering that that wasn’t the title of a illness. It was the title of a flight quantity,” stated Amber. “I couldn’t perceive what my good, stunning little child boy had, and neither might the medical doctors.”

What they did know was that Maxwell’s uncommon neurological situation would probably trigger extreme motion and speech problems and mental incapacity. Between the ages of three and 4, Maxwell is anticipated to develop a debilitating type of epilepsy and…



cnbc.com