What it felt like when we learned our child has SLC6A1?
The SLC6A1 diagnosis really didn’t change how we felt about Nevaeh’s situation. Of course, I googled it and didn’t find any in depth information. However, what I did find were symptoms that we always thought were just unique to Nevaeh. We had never met anyone else quite like our girl… and to know there WERE others out there like her really set off a fire in my soul. Through this research is how I came to find the Doose Syndrome Group and eventually SLC6A1 Connect.
How did you know something was wrong?
From the day Nevaeh was born she had slept through the night- she never cried for me. She didn’t babble, crawl, or sit up unassisted within a typical timeframe. She couldn’t hold her bottle, didn’t play with toys, and tummy time was completely out of the question. All of her doctors said it was normal because she was my only child and I did everything for her.
During this time I would notice her staring off into space, her head would suddenly drop, and then she would go back to whatever she was doing. When she started side stepping around the age of 2, she would fall for no reason. Others said she was just clumsy. However, when she tried getting up again, she would jerk twice very quickly then continue to do what she was doing like nothing ever happened! Again, doctors said she was clumsy; once she started school she would catch up. Many of my family members had seen her fall but never noticed the jerk… until one day at a family reunion. My brother took Nevaeh for a walk. When he came back, he concernedly told me that she fell many times for absolutely no reason. As soon as he said that, Nevaeh experienced a Myoclonic seizure in front of my entire family. We rushed her to the ER where she was then diagnosed with Epilepsy- Atonic, Myoclonic and Absence seizures. That day, our lives changed forever. It didn’t answer ALL of our questions, though. At the age of 5, she was diagnosed with severe Autism and was eventually considered intellectually disabled.
The hardest part of being an SLC6A1 family?
The hardest part for me is seeing new families on this journey who do not see a positive and strong future for their child. We’ve lived this life for 14 years and I’m here to tell you, it DOES get better. It’s not always easy- you will struggle with medications, side effects, meltdowns, and the hiring and firing of several doctors. You will live in therapy offices, grow to hate IEP meetings, and possibly lose friends and family along the way.
But let me also tell you- the first time you see your child giggle, hit a milestone, use their hands correctly, try a new food, connect with a friend, have a seizure free day, hit an IEP goal, make a joke, accept their disability, and decide to live her life to the fullest… That will be the day all your struggles will be worth it! Never give up. You are your child’s only advocate, and if you don’t do it no one else will. Keep fighting!
What are your dreams for Nevaeh?
My dream is that one day Nevaeh will live on her own, start a family, have a career, and continue living her best life.
Why would you like people to donate to Arthur’s Quest?
Without funding, medical science cannot advance. SLC6A1 is brand new and finding a cure for our child can lead to finding a cure for millions of other children around the world. Gene Replacement Therapy is what is going to change the medical world forever. Please help us!