Episode 093 -Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama – Špela Miroševič
ONCE UPON A GENE – EPISODE 093
Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama – Špela Miroševič
Špela Miroševič is a fellow CTNNB1 mama to a two year old named Urban. She’s done a lot of work to start a foundation for our CTNNB1 gene and get in front of scientists and researchers to find a treatment for our kids.
Can you tell me about Urban?
Urban just turned 2 years old. He was born a perfectly healthy boy. My labor was perfect, Urban was given a perfect Apgar score and for the first three months everything was fine. It was then that I realized he should be holding his head more than he was and that his movements weren’t connected. When I took him to the doctor for a routine check-up, she identified that something was wrong and ordered a brain scan, which began the journey of getting a diagnosis.
What motivates you to accomplish all that you have for the CTNNB1 community?
The moments I feel angry and hopeless. In those moments, I research to get closer to the hope that we won’t always live like this and we can overcome the difficulties and struggles. Even though nothing I’ve tried has helped Urban, it has brought me a sense of control. I can’t control Urban’s condition, but it gives me strength to do something to help him even when it’s not really helping at the end of the day.
Can you tell me about the foundation you started?
I’m research focused in psycho-social interventions to improve the quality of cancer patient’s lives through mindfulness and psychotherapy. I knew how to read articles and was studying biopsychology, so I had knowledge of hormones, transmitters and about biology. I wrote to Amber Freed, the Founder of SLC6A1 Connect, to learn more about developing gene therapy. She connected me with other parents who led me down the path of developing a gene therapy. I called the head neurologist at the pediatric hospital in Slovenia and told him I wanted to create a gene therapy and he agreed to help me. He connected me to a Slovenian researcher known for his gene therapy studies and only one month later we met to discuss how we were going to make gene therapy for Urban and other kids affected by CTNNB1. I researched all articles on gene therapy, documented the researchers, I did a systematic review of the published research on CTNNB1 cases, noted common mutations, clinical features and suggested gene therapy approaches. With this data, I sent emails to all of the researchers and received great responses that gave me the strength to keep fighting. One email was from an Australian researcher with the Children Medical Research Institute where they have a laboratory for making gene replacement therapy for rare genetic diseases. They said CTNNB1 was a good gene for gene replacement therapy which meant I needed to develop a foundation and collect money to move forward.
How will clinical trials work?
We don’t know yet, but we have secured an organization who will help fund the clinical trial of the gene therapy and give us a free spot at the laboratory. Once the clinical trial is approved in Australia, doctors can apply for use of the gene therapy which can be sent to any country so kids won’t have to travel to Australia to get it.
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