Ambassador Stories
February 19, 2021

‘Keep Looking, Keep Working and Keep Fighting’

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Yohanna’s son, Xander, was finally diagnosed with a rare condition known as SLC6A1 when he was two. Now, she has a message for other parents currently searching for a diagnosis.

Xander seemed perfectly healthy his first few months of life. When he was around six to eight months, Yohanna began to notice he wasn’t hitting milestones and didn’t seem interested in his toys.

As part of a program for first-time mothers in New York, a nurse would regularly come to the family’s house to help out with Xander. Yohanna discussed her concerns with the nurse, who suggested she take her son to a pediatrician in case he needed early intervention.

Over a year later, Xander was diagnosed with autism and he began attending a center to receive therapy. However, Yohanna realized her son wasn’t making strides like the other developmentally disabled children at the center. “Xander was stuck doing the same thing,” Yohanna remembers. She had a suspicion there was something else impacting her son.

Getting Xander a diagnosis wasn’t easy. For quite some time, when Yohanna expressed her concerns to doctors, they continuously brushed her off. One pediatrician told her that she shouldn’t worry because boys tend to develop more slowly. Yohanna’s intuition told her she had to keep looking for answers.

“Keep going. You’re going to find the answer, but you’ve got to keep going,” she advises other parents on the same journey.

After pushing for genetic testing, Xander was diagnosed with SLC6A1. Yohanna explains that while she was relieved to finally get a diagnosis, at the same time she found it devastating, as SLC6A1 is a rare disease with no treatment. “Even though you know something is wrong... you don’t want to be right,” Yohanna reflects.

Today, Xander is three years old. Ever since he was diagnosed with SLC6A1, Yohanna and her husband have become involved in fundraising to help support research for their son’s condition. They also started a GoFundMe page to raise money for SLC6A1 Connect, a non-profit organization committed to raising awareness and finding treatments for children with SLC6A1.

Still, Yohanna knows that the family’s journey with SLC6A1 has only just begun. She readily admits that she does not know what Xander’s future will look like. “I’m always thinking, what is going to happen to him if I’m not here?” Still, the family has come a long way since receiving Xander’s diagnosis.

“It was a long journey, but we did it. We finally got a diagnosis for him. We are going to fight for him,” Yohanna says.

Yohanna signed up for the AllStripes SLC6A1 research program because she believes “the more we know, the better.” She sees AllStripes as a valuable tool for the SLC6A1 community to utilize in order to share their medical records and help advance research. She also believes additional research will lead to more children who are currently thought to have autism spectrum disorders to be diagnosed with SLC6A1. Recent research has shown that 80% of autism spectrum disorders are related to genetics.

Yohanna wants to tell parents of children currently going through a diagnostic odyssey to keep looking for answers: “Keep looking, keep working and keep fighting!”

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