Our story starts on January 3, 2016. The day our daughter, Malia Kate, was born. Malia was ready for the world earlier than expected, arriving 5 weeks early. Even though she was premature, Malia never had to go to the NICU and left the hospital the same time as full-term babies. We knew at that time that Malia was a determined little fighter; she has proven that to be true every day since birth.
We noticed around 6 months of age that Malia wasn’t quite keeping up with her peers. Her pediatrician wasn’t too concerned at that time since Malia was born prematurely. At 9 months old, Malia wasn’t able to sit up so her pediatrician ordered her to be evaluated for therapies. Malia started physical therapy at home and began to make progress. She hit her milestones at her own pace, finally being able to walk at around 21 months old.
After Malia started walking, we noticed she would fall a lot. Her falls looked different than those of her peers. She would fall and then shake for a few seconds afterwards. Many times she would hit her head, which was obviously worrisome for us. The falls would happen so quickly that we often didn’t have time to stop them. We could tell that even Malia started to wonder what was going on; one time she fell for no reason and I heard her say “why” afterwards. It was heartbreaking to not have any answers for her. Numerous doctors were baffled and we weren’t even sure where to turn next for help.
October 29, 2019 was a day that was life changing for our family. Our genetic counselor called and said Malia has a rare genetic disorder called SLC6A1. Less than 100 people in the world had been diagnosed with the disorder when Malia was diagnosed. It’s so rare that it doesn’t even have a name, only identified by the affected gene, SLC6A1. We learned that common symptoms of SLC6A1 include seizures, intellectual disability, speech difficulties, autism, and behavioral problems. There is no cure for SLC6A1 at this time.
Our hope is that Malia and the other children with SLC6A1 will be cured someday soon. When Amber Freed’s son was diagnosed with SLC6A1 in 2018, she refused to listen to doctors who told her there was nothing she could do for her son. Amber quit her job and dedicated her time and efforts to finding a cure for SLC6A1.With the scientists and medical team that Amber assembled, a path to a cure was found: gene replacement therapy. We are in a race against the clock to get Malia the gene replacement therapy that will cure her and prevent further damage to her brain.
What SLC6A1 Looks Like for Malia:
We are doing our best to make sure Malia has the best life possible. Malia is on seizure medication which has greatly reduced her falls. The downside of the seizure medication is that it can cause liver damage so she also takes a medication to protect her liver. The seizure medication has improved Malia’s tremors but not gotten rid of them completely. Malia struggles with her balance but has adapted to her body’s abilities and knows when to be cautious. To strengthen her gross and fine motor skills, Malia does physical and occupational therapies once a week. She also sees a speech therapist at school and outpatient once a week. Five days a week Malia attends ABA therapy to help her with the challenges that come with having autism (she was diagnosed with autism in the summer of 2020). We recently learned that Malia needs vision therapy so we are hoping to start that soon. We will also be making yearly trips to Dallas, TX for a research study at UT Southwestern that Malia is enrolled in. Malia will be starting kindergarten this fall and will definitely be a busy little girl!
All donations made on this page will go to SLC6A1 Connect, a non-profit organization started by Amber Freed to fund research and a cure for SLC6A1. Thank you for following us along on our journey and for contributing to a great cause! We couldn’t do it without your support and generosity!
Jordan and Molly Tingley