CURRENT AGE: 12
HOME TOWN & STATE: Seattle, WA
DIAGNOSIS DATE: December 2017
PARENTS: Sarah & Jayson
SIBLINGS: Maya (13)
What it felt like when we learned our child has SLC6A1?
We had been searching for the cause of Ella’s epilepsy and global delay since she was a baby and it was incredible to finally find the answer. Ella has such a great personality.
She doesn’t talk, but always seems to be happy and loves music and dancing. She exhibits several ticks such as hand flapping and loves to watch the same movies over and over, but she has such positive energy. When she was five years old she began to regress and lose many of her skills. She used to be able to speak about 20 words and had much better fine motor coordination; she could feed herself with a spoon. Now she just uses her hands to eat. By the time we got the DNA exome test results we had found peace with who Ella was and what she needed, so we were pleasantly surprised to find an answer. Back in 2017, doctors didn’t have much information about her gene mutation and just handed us a scientific article about it. I was so excited to learn that there was a community of other people experiencing the same thing as us.
How did you know something was wrong?
It was pretty obvious that Ella wasn’t meeting her milestones. She didn’t sit up on her own until she was 1 year old. She never crawled, but would scoot around on her bottom and learned to use a walker at 18 months. She was also on Kepra (an anti-seizure medication) at 18 months, and within 6 weeks of this she began to walk. She started babbling and feeding herself with a spoon at 3 years.
We considered ourselves lucky to have such a “calm and content” child, but early on we knew something was wrong. We were referred to a pediatric neurologist and our search for Ella’s diagnosis began.
The hardest part of being an SLC6A1 family?
It is a huge toll on our family, especially for our older daughter who just wants to have a “normal” sister. The statistics for divorce among couples with a child with special needs are staggering. We have managed to defy all the odds, but not without a ton of work and effort from everyone. Our strong support system of family and friends definitely helps to make us stronger. “It takes a village” and we wouldn’t be where we are today without them.
What are your dreams for Ella?
If Ella could speak again that would mean so much to us. Our running joke is that even if Ella’s first word was a cuss word we would happily take it! It’s very challenging for her to tell us what she wants. Ideally, she would be able to live an independent life without lifelong supervision from a caregiver.
Why would you like people to donate to SLC6A1 Connect?
We are so excited that a cure is in reach. All we need is money to make a lasting impact in Ella’s life and the lives of everyone around her. Ella requires a lot of support and assistance in her daily routine- doctors, Occupational Therapists, Speech Therapists, Physical Therapists, and several others. She also requires daily anti-seizure medications that have many side effects. She needs assistance to do most tasks and activities. Ella requires A LOT of resources that could be redirected. It’s amazing to think about who she would be without this disorder. If we are able to make a difference for her and for the lives of those like her it would mean that no other family would have to go through what we have. Your donation means the world to us!