NAME: Malia Kate Tingley
CURRENT AGE: 5
HOME TOWN & STATE: Bondurant, Iowa
DIAGNOSIS DATE: October 2019
PARENTS: Jordan and Molly Tingley
SIBLINGS: Felix (3)
What it felt like when we learned our child has SLC6A1?
We experienced mixed feelings when Malia was diagnosed. In a way, we were relieved to finally have a diagnosis, but of course, we were absolutely devastated to learn our daughter had a rare genetic disorder.
How did you know something was wrong?
We noticed delays in Malia’s development around 6 months of age but her pediatrician attributed it to her prematurity. Malia started physical therapy when she was 9 months old as she was unable to sit on her own. She made strides at her own pace and was able to walk around 21 months. It then concerned us that after Malia conquered walking, she began to experience frequent falls. These falls looked different than those of her peers, however. She would fall and then shake for a few seconds afterward. During periods of illness, Malia’s falls would increase and there were times that she regressed. We went to numerous doctors and ordered multiple labs and tests and had no answers. It wasn’t until Malia had whole exome sequencing completed that we found out that SLC6A1 was to blame.
The hardest part of being an SLC6A1 family?
For us, these are the hardest parts of being an SLC6A1 family: the constant worrying about your child’s health and safety, wishing your kid could just be a kid, scheduling everything around medical appointments and therapies, and watching your child struggle and feeling helpless.
What are your dreams for Malia?
We hope that Malia continues to make progress so that she can gain independence. Our dream would be for Malia to be able to successfully live on her own when she is an adult.
Why would you like people to donate to SLC6A1 Connect?
Donations to SLC6A1 Connect give us hope. We want all of those who are struggling with this disorder to be cured someday. These innocent kids deserve to live happy, normal lives.