ONCE UPON A GENE - EPISODE 192 - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency with Carolina Moreno
Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!
-----> CLICK HERE TO INQUIRE <-----
Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information! -----> CLICK HERE TO INQUIRE <-----
Enjoy this presentation by rare disease mom, Carolina Moreno, which she originally shared at the 2023 International CTNNB1 conference held in Spain.
EPISODE HIGHLIGHTS
Thank you for the invitation. It's a privilege to be in this conference. Whenever I hear the word conference, the first thing that comes to mind is those first few conferences that were organized to help us better understand my second daughter's disease.
Her name is Irai. Unfortunately, that disease is very similar to CTNNB1, including an acronym to name a disease that didn't mean anything to me before my child was Irai was a tiny baby, I never attended those conferences and I didn't because during my daughter's first months of life, I refused to accept the idea of having to say goodbye to having a healthy child. I refused to be a part of the group of families that would have to dramatically change their lives.
I refused to acknowledge that many of us would have to say goodbye to our careers, our friends, our unfulfilled dreams. And most of all, understanding that their lives would never, ever be the same again. Saying goodbye to a past life that now seems so easy. It's incredible how things can change in a second.
Things that seemed difficult in the past are now almost laughable. And yes, I was in denial. I did not want to accept that my daughter was part of that group. Fortunately, my life partner was not in denial and did attend those conferences where he finally felt understood. He felt like he was not alone in this journey.
He understood that the strength of many is far greater than the force of one. He understood that the company of others on the same road can calm and even heal you. And I would just wait at home. At that time, my home had become a bunker and when he came home, I welcomed him with mixed emotions. On the one hand, he had been attending those conferences, feeling the power of community, understanding that our children didn't have to be forgotten, and that there was a possible future for them. So I welcomed that news. But I only wanted to hear the good part. I tried to not look at the sad part of things, the sadness that overpowers us when we've realized that in our day-to-day life we're still alone, and that our solution was eluding us, although we wished for it more and more. I was frequently irritated with my partner when I heard him say that Irai had been born 20 years too soon, because as he said, in 20 years, children with this disease will have a cure.
I had learned to live one day at a time, treasuring the good times. Just that was a victory and he was talking about 20 years. Although time does not heal everything, it does make things smooth with time. We learned to live with the disease. We adopted a quote from a friend. She used to say that we had to accept the thorn to love the rose. At that time, my partner proposed that we create an association bearing our child's name with two clear targets– First gathering funds for scientific research, as we clearly understood that this was the only possible way forward toward a better future. We had already assumed that we were 20 years too soon, but at least we wanted to contribute our grain of sand for those that would come after. The second objective for this association was raising awareness about our children, that they exist, and they have rights, and those rights are inalienable.
So with that, we created Association Irai. There were only two cases reported in Spain at that time. I was starting to come out of my bunker, holding my daughter tightly close, and I was taking a peek at the outside world, which was not easy. But staying at home with my partner in a bunker was not easy either because we both knew that we wanted the best for Irai.
We just couldn't agree on the best way to accomplish that during those months. We had lived through enough experiences to write a book, literally, so we wrote it and we started the book by narrating the time when we took our four month daughter to one of the most reputable neurologists in Barcelona. After the visit, he gave us a very clear diagnosis. He said, it's not the first time a child with such a severe lack of muscle tone has had mental retardation. I apologize for the spoiler, but the book ends by explaining how we learned to love our daughter, how we stopped expecting or wishing she was different, that our life was different, and we learned how to live again. And that's how the book ends.
But fortunately, that's not how Irai’s story ends. When we stopped waiting and we were just focused day to day to give Irai a better quality of life, we received a phone call. On the other end, we heard Damià, co-founder of the Columbus Foundation, who clearly explained to us that my daughter could actually be cured.
I will forever remember his words. He said, “...your daughter can be cured with genome therapy, which is like going to the mechanic. Your daughter just needs to have a part that doesn't work changed.” By then, Irai was three years old, and you can imagine we had looked into every possible available therapy and none of them offered a cure, so we were a bit skeptical.
We decided to meet in person and Damià explained that he contacted us through our association's website since he was not aware of Iria's existence through any other channel. During that meeting, he showed us pictures and videos of a child who had been operated on with gene therapy only a few months prior.
At that time, Iria was severely hypotonic. She could only open her eyes and had a beautiful smile. Surprisingly enough, she could eat. She did not need a G-tube, but she could do little else. The before and after videos of that child who had received gene therapy was devastatingly hopeful because the very minute we watched it, we wanted the same treatment for our daughter. It was her only option.
Months went by and we did it. She was the ninth child in the entire world to undergo the treatment. When she was taken to the operating room, I remember thinking please don't take away her gaze and smile, because those were the very few things we could enjoy with her. We went ahead with the gene therapy and one of the conditions we insisted on was that once the decision was made, we would never look back or ask anyone for a second opinion. We would stop searching for more information and we were diving in head first, filled with trust and hope. And once we made that decision, we started dreaming again.
Iria was reborn on May 14th, 2019. She will soon turn four years old, although biologically, she's eight years old. She started holding her head up straight. She started sitting, picking things up with her own little hands, eating alone, clapping, babbling, speaking her first few words, and then so much more.
And today she goes to school with her siblings. She stands by them, but she doesn't want them to hold her hand because she feels independent. And that's when I get emotional because it's over– Iria no longer needs someone to hold her up anymore. When someone tries to hold her hand, she pushes that hand apart and says no loud and clear. And that's the best kind of denial I've ever heard in my life.
We will keep dreaming. We will keep going. We will keep fighting so all of our children get that second chance, that second birthday.
LINKS & RESOURCES MENTIONED
Ahora sí, te quiero tal como eres / Now yes, I love you as you were
First patient treated for AADC deficiency with gene therapy by Columbus Foundation
TUNE INTO THE ONCE UPON A GENE PODCAST
TUNE INTO THE ONCE UPON A GENE PODCAST
CONNECT WITH EFFIE PARKS
Built Ford Tough Facebook Group
Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!