On a Mission to Find Treatment for Autism
I want to help others. But first, I need your help!
My name is Ishaan Holloway. I’m a 16 year old boy with Autism, and I live with my parents and older sister in Calgary, Alberta, Canada.
Until I was 18 months old, I was developing typically. But at that age, I lost all of my skills, and I was diagnosed with severe regressive Autism. That was devastating for my family. Since then, my parents and my older sister have worked very hard to help me be the best I can be.
For a long time, we didn’t know what contributed to my Autism. But after much pushing, my parents were able to have my genes analyzed, and it was discovered that I have a mutation in a gene called NLGN4X. There are probably hundreds, if not thousands, of kids like me around the world, but because in many countries it is still difficult to have genetic testing done, the analysis of my case was a bit of a ground-breaker.
The mutation I have in NLGN4X affects what is called “synaptic transmission”. What that means is that my nerve cells can’t communicate properly with each other. And the result is that I’m in a constant state of agitation and over-excitement. It’s almost impossible for me to sit still or be quiet. I also find it extremely difficult to pay attention if someone is trying to talk to me. Because of my condition, I’ve never been able to learn to speak. Instead, I communicate by spelling things out on a keyboard, which is slow and laborious, and which doesn’t work if I’m too agitated. And since my senses get so easily overloaded, it makes it difficult for me to be out in the community. Instead, I have to spend most of my time at home. Because of that I have very few friends.
All of this has made things very difficult for me and, as a result, also for my family. Though my parents and my sister have sacrificed a great deal, these days it seems that my life is constantly on the verge of a breakdown. But a year ago, thanks to the efforts of a wonderful scientist named Dr Soham Chanda, working at Colorado State University in the US, working in partnership with Dr. Kim Smyth, my Neurologist here at the Alberta Children’s Hospital, we were able to learn exactly how my mutation is interfering with the proper functioning of my brain cells.
What we need to do now is take this research to the next step. Now that we understand how the mutation works, we need to explore what medications might help human synapses function as they are supposed to. That is what I am asking for your help to do. We want to raise money to support this research, and all that you give will go directly to that. Because this mutation is rare, the big pharmaceutical companies aren’t generally interested in people like me. That’s why we want to do everything we can to support laboratory research. Without people like Dr Chanda and Dr Smyth, we’d probably be all alone in terms of our treatment. Importantly, Dr Chanda’s work also goes far beyond NLGN4X. It will likely also help the thousands and thousands of other people around the world who have mutations in other synaptic genes.
Let me tell you a bit more about myself. Because of my condition, I am home-schooled. That is a strain on my family, but thanks to them, I am making real progress academically. I love listening to music, and watching sports on TV. I also like writing poetry, and I’ve been lucky enough to have several poems published. I’ve included one below in which I talk about the turmoil my mind is in.
Here is a link to a profile on me that was done by Autism Speaks: https://www.autismspeaks.org/profile/meet-ishaan-h. And here is a story about me written by Hafsah Syed, one of my former aides: https://nursing.ucalgary.ca/news/nursing-student-shares-her-experiences-working-child-severe-regressive-autism
My ambition in life is to be an advocate for children like me. I’ve already exchanged letters with both the Prime Minister of Canada and the Premier of Alberta. But if I am not able to have my brain synapses function properly, I won’t be able to fulfill my goal. I want to help others. But first, I need your help!
I want to be an advocate for people with disabilities. I want to keep writing to make our voices heard!
Will you join me on my journey? Wouldn’t you want to be a partner in the future of genetic research and Autism, and to help kids like me? Don’t you want to be superhero in the fight to help us? If you do, please consider making a donation to the Brain Foundation to support NLGN4X projects. Help us raise the $50,000 to support research on drug repurposing. With even a small contribution, you can make a real difference in improving the lives of many others. Every dollar, every share, gives me and kids like me a second chance at having an independent life.
Thank you from the bottom of my heart,
Ishaan Holloway is a 15 year old living with Autism due to a rare mutation in the NLGN4X gene. NLGN4X is a gene that makes a protein required for proper functioning of the brain cells. Mutations in the NLGN4X gene impair neural communication, and are known to be associated with the condition of Autism. Those who have NLGN4X mutations are in a constant state of agitation and heightened anxiety. It stands in the way of them ever living an independent life. The Holloway family is seeking to raise $50,000 to assist in the quest for repurposed medications which might help the brains of people with NLGN4X and other similar mutations to function as they are meant to.