NAME: Avaleigh Thorn
CURRENT AGE: 2
HOME TOWN & STATE: Abilene, TX
DIAGNOSIS DATE: August 2020
PARENTS: Sheryl and Elen Thorn
SIBLINGS: Annistyn (10 months)
What it felt like when we learned our child has SLC6A1?
When our youngest biological child moved out of our family home to go to college, we became empty nesters. For a brief moment it was wonderful, but we soon missed the sound of children in our home. We decided to go through the process to become state licensed foster parents and open our home and hearts to children that needed a safe place to be. We got a call on September 3, 2018 that we were getting a newborn little girl. That was the day Avaleigh came into our lives. She was 26 hours old, bundled in pink, and beautiful. But by the time she was 3 months old, we knew that there was something wrong. We kept asking the pediatrician if she was alright… and we kept hearing that she was fine; we were just overreacting. She wasn’t reaching milestones like other children and we were incredibly worried. We managed to convince the pediatrician for a referral to our local Early Childhood Intervention program. At 7 months, she started physical therapy, speech therapy (for feeding issues), and occupational therapy. At this point, the doctor diagnosed her with hypotonia but we knew that she was experiencing more than just low muscle tone. We finally demanded genetic testing and boy, was that a fight! Our persistence paid off and genetic testing was approved for Avaleigh. At about this same time, we got news from Child Protective Services that Avaleigh’s goal was changed from family reunification to unrelated adoption and that we would be able to adopt her. This is when we completely let our wall down and allowed ourselves to fall in love with her more than what we already were. This little girl was going to be ours!
We did the first round of genetic testing and it came back that there were no extra chromosomes or missing chromosomes. Everything looked great. But we still knew there was something wrong. We went through round 2 of our fight for additional testing. In May of 2020, a full exome test was performed for Avaleigh. Because of a lab error, however, results did not show up in the geneticist’s box. We called the geneticist’s office every day and a caseworker finally investigated- the results had been sitting there for nearly 3 months. On the afternoon that we received a diagnosis, we had taken Avaleigh to a pediatric ophthalmologist to check her eyes (Silly us- we thought that she was running into walls, furniture, and trees because she couldn’t see well. But her eyes were perfect). We were almost home when the phone rang and we were told about SLC6A1. Immediately, our world stopped spinning. We were devastated and in shock and did not know how to process this new information. The doctor simply told us that it’s a rare disease and it explains her delays… there is no cure. They asked if we would like to be put on a waiting list to talk to the actual geneticist. We couldn’t even respond coherently. We felt lost and alone and unable to think or breathe. This was the worst moment of our lives but we weren’t going to let it defeat us or define Avaleigh. We dried our eyes, caught our breath, and stood back up to fight for her for the long haul.
How did you know something was wrong? It was clear from early on that Avaleigh wasn’t reaching milestones. She couldn’t hold her head up and seemed like a “floppy” baby. Her enlarged tongue got in the way of feedings. She wasn’t grasping at toys or rolling over. She struggled with every single milestone but we could not get the pediatrician to listen. By the time Avaleigh turned a year old, we definitely knew that there was more than just a global developmental delay and there was something neurologically wrong with her. We just didn’t know what exactly it was yet.
The hardest part of being an SLC6A1 family? Our family has struggled with the unknown; not having answers or support in the area where we live is difficult. We are so blessed that Avaleigh’s therapists are proactive and supportive of trying different options moving forward. However, we need more support than what our small Texas town can provide. We live in a medical desert and even finding a good general doctor is difficult. Ultimately, the hardest part is knowing that there may be a cure through gene replacement therapy but there is a lack of funding. The idea that our child will face immense challenges and eventually deteriorate- all because of a lack of money- is the hardest aspect to accept.
What are your dreams for Avaleigh? First and foremost, we want Avaleigh to be healthy and happy. We don’t want her spunk and silliness to be overshadowed by SLC6A1. We want her to achieve all that she can and to not allow disabilities to stop her. We don’t want this disease to define who she is. Our dream is that she will be cured and she will learn and thrive and live a healthy, normal life.
Why would you like people to donate to SLC6A1 Connect? Without donations, there is no chance for a healthy, normal life for Avaleigh or the other children touched by this disease. Donations towards clinical trials would be life changing- not only for those currently affected but those who have not yet been diagnosed. The only thing in the way of a cure is lack of funding. Time is racing and our children are running out of time.