From Mystery to Medicine: The Science Behind a Mother’s Search

Delilah Sabaredzovic:
I really believe that the future is filled with many possibilities. Thankfully, the science is really progressing and also becoming more precise and collaborative. And I really believe that our case is a strong example of that. Thanks to the amazing people or our village as I would like to call it, we're now seen as never before. We are given the opportunity to raise awareness, and we are also moving towards a brighter future. So even though we still don't know the outcome and what everything will turn out to be, I believe that we have come very far along and that the future holds hope. Not only in our case, but I believe for many others in similar situations.

Mary Parker:
On Sounds of Science, we have the honor of speaking with Delilah Sabaredzovic, a mother whose story has touched hearts and sparked many conversations with the help of researchers, generous scientists, and pro bono collaborations. This family's story has become one of scientific breakthroughs, resilience, and profound love. Welcome to Sounds of Science. Delilah, we are honored to have you.

Dalila:
Thank you so much. Thank you for having me. It's really an honor to be here and to get to tell my story.

Mary:
I'm really excited to hear more about it. So, let's dive right in. Can you tell us about yourself and your family and what makes your sons Benjamin, 17 and Sammy, 8 so special?

Dalila:
Yes, of course. So I'm a proud mother of four. I have two girls and two boys, my family and I, my husband and my four children. We all live in Stockholm, Sweden. And the very special thing is that my both boys have this extremely rare disease that really has profoundly shaped our life. So, both Benjamin and Sammy are really my heroes in this life. They're not just special, they're both amazing, extraordinary, and I'm not just saying this because I'm their parent. Everybody that ever meets them says the exact same thing. They are true warriors. They are facing every single day with courage. And that really humbles me living and fighting an extremely rare disease that affects so many organs and functions within their body. They do it with such strength and positive spirit. They're extremely positive, kindhearted and always smiling. They care about others and have so much empathy within them.

Mary:
Yeah, we'll get into the details of their disease, of course, the exciting research that has been done. I'd like to hear a bit more about them as people. I'll bet they really support each other through this as well.

Dalila:
Yeah, of course. So, my elder son, Benjamin, he is the one that he's taking everything regarding all the procedures and everything. So, we try to not expose Sammy as much. So, I often hear every procedure or something that he has to do. He's like, I'm doing this for the sake of my little brother. So, they have so much empathy within them. So, you can see that how it reflects on not just towards themselves, but also our entire family.

Mary:
Yeah, absolutely. So let's start from the beginning. When did you first realize something might be different with your son's health?

Dalila:
So right after birth, when Benjamin was born, he pretty much immediately developed prolonged jaundice and he became very yellow. And the doctors ensured us it was normal, nothing to worry about, but the levels of bilirubin in his blood elevated very quickly and he was severely affected. So he had to receive light therapy for 24 hours.

And they even prepared us to do the blood exchange because he was so severe. But then the light therapy helped, but he remained yellow. So eventually it was revealed that he also had elevated liver enzymes that kept on climbing throughout entire infancy. And we also revealed that he had elevated muscle enzymes, and so we quickly understood that something was breaking down his muscles and also disturbing the liver function, but we had no clue what it was. So by the age of approximately one doctors performed both liver and muscle biopsy on him, but we didn't actually get any answers from those biopsies because it didn't point to any direction. And as the time went by and he got a bit older, we also noticed that he had a speech delay. He also had balance and coordination problems. It was like he was always a step a few behind his peers. And as the time went by even more, the list of symptoms only got longer. So all of a sudden we had a team of neurologists, gastroenterologists, cardiologists, and clinical geneticists working on our case trying to solve this medical mystery.

Mary:
And what was it like navigating those early days before you got a diagnosis?

Dalila:
Navigating was extremely tough. The uncertainty was a big nightmare for me. I remember crying myself to sleep every night. I have never felt more helpless in my entire life. We were constantly at a hospital, awaiting different results. I remember if our doctor suspected a specific condition or a disease they wanted to test back in the time, they could only test one analysis at a time. So they sent tests to different laboratories across Europe, and we had to wait several weeks, sometimes even months for the results to come back and then to repeat with a new suspected disease. It was a very dark time full with extremely much despair.

Mary:
I can imagine that finally getting a diagnosis while not exactly reassuring came as a bit of a relief. So how did you finally receive the diagnosis of this rare genetic mutation SPNS1, and what did that moment feel like for your family?

Dalila:
So for many years, Benjamin remained a medical mystery. So we didn't actually know anything what was happening. We just noticed something was very wrong. We had no explanation at all. But it wasn't until Sammy was born that things really started to progress in the right direction. I remember doctors performed the whole genome sequencing on Benjamin and even on us parents, but the results couldn't actually conclude anything. So when Sammy was born in the beginning, he didn't have any severe jaundice. As his older brother, everything seemed fine. So I was extremely happy and I really thought that I had a healthy son. But then when he was a couple of months old, we ordered the same blood tests for him just to double check and make sure that he in fact didn't have elevated because we did the same previously with the girls as well because my two girls are healthy.

But we still wanted to check to see how their levels were. And I remember the day when the results came back showing that he in fact had the exact same blood tests elevated, and I just remember my whole world broke down into billions of pieces. The pain and sorrow I felt for Benjamin now doubled. I no longer had one sick child, but two. And it really broke me down. And I don't even know how I managed to pick myself up after the devastating news, but despite being heartbroken, I had to find strength to just continue and to push the medical investigation further. So we did a new whole genome sequencing, but this time we had Sammy added to it, and that is how two gene mutations were discovered that the boys had in common. One didn't have any relevance at all, but the other one, the SPNS1 remained. We didn't actually know what that meant, but doctor said this might be it. So in the beginning, initially I was very happy that they had found this mutation, but then I realized soon that it didn't really mean much. It was basically only a work on paper and nobody knew anything about this mutation. So in my desperate searching for answers, I remember when I didn't get any more answers here in Sweden. I remember contacting the NIH in Washington pleading for enrollment for my boys within their undiagnosed disease program, and they kindly enrolled the boys within their program. So in 2019, we flew to the US to participate.

I had major hopes and I thought that we would really come back home with a diagnosis, but unfortunately that didn't happen. So when we came back home, I had totally lost hope. I thought that the boys would remain undiagnosed forever. But then sometimes later I did some own research and then all of a sudden I find this published article on SPNS1 from a large scientific group from Singapore, and I immediately wrote to the researchers, and I also very quickly received an email from the leading Professor Silver, the leader for this research. And finally I said to myself, I have now found the right team that I knew would be able to give us at least more answers than we had because we didn't have any at all.

So Professor Silver and our team in Sweden, they had an online meeting and then later fibroblasts from the boys and even from us parents were sent to Singapore so that they could do different tests and analyze it, and their lab took all the material and did a lot of different testing, and later they could confirm that my boy's symptoms are in fact caused by this SPNS1 gene mutation. So finally all the years that I had spent on trying to find an explanation, we now had it. And I was very happy and excited that we had finally received a diagnosis after so many years. But I also felt great fear to have a diagnosis found nowhere else in the world. Not even the Singapore team had identified any other case before. So that was very scary.

Mary:
I can imagine. I mean, receiving such a rare disease diagnosis of course feels like a relief, but also there's an uncertain path forward and you don't have a lot of answers, and obviously there's a lot at stake. So where did you turn for help after the diagnosis? How did you find the resources or the people who could help you?

Dalila:
Yeah, so after receiving a diagnosis, I quickly realized that a totally new journey has begun for us. So I started my desperate searching again, but this time searching for a way to treatment. And I remember I contacted worldwide research universities, different organizations, medical companies, both national and international specialists, just hoping to find a team that will find interest in our case and that can hopefully help us further towards a treatment. I understood the complexity of our case and all the limitations. I mean, who would like to invest in only two children known worldwide with this nano rare condition? So it was almost like a mission impossible while I was searching. I found the N one Collaborative.

And thankfully, I received an email from a very kind and helpful person that gave me more information and also recommending me contacting Dutch researcher, and I was extremely happy. So I did it immediately. I wrote and explained our whole story and a fantastic Dr. Maline Loafer from the Netherlands. She immediately responded to my email and engaged in our case with such passion and helped me get in contact with two amazing doctors from Charles River, Dr. Redis and Dr. Fisher. So pretty much immediately we set up an online meeting and later one more including Professor Silver. And when we started to talk about different ways towards potential treatment or ways how we could go further, the N one organization also did an extremely huge things for us. They granted us an award that makes this work towards possible treatment. So I was totally blown away by everything that happened. It was basically a dream coming true, and I couldn't even believe everything that happened so quickly. So from that, where we are today, things have been progressing amazingly. So I'm extremely glad and I'm extremely happy for that.

Mary:
So that kind of explains how you met the team at Charles River and the N of one Collaborative donated resource center. So how did that lead to the development of your son's personalized treatment?

Dalila:
So a large collaboration were established of this amazing people engaging in our case because I just want to state again that for more than 17 years, I have been dreaming of getting this kind of opportunity in life each day, every day, every night. This is everything that I have had on my mind. So I really feel so blessed for this amazing collaboration, for their dedication, compassion towards us and for everyone's expertise. And I mean, it's impossible to words explain how I feel and how much I appreciate this large team that we have on our journey now, because we are no longer alone in this, we have so many people that are helping us in many different ways.

Mary:
What stood out to you about the collaboration that brought the personalized medicine to you?

Dalila:
Everything stood out in a very specific way because when you basically dream about this and things started to happen because all the other places I turned, everybody was very kind and helpful, but it never led to something. But this time, all of these people had actual ideas. But all the ideas, all the competence, the expertise they have, I was blown away because they had so much. And I think that when the Charles River Group and Dr. Silver, when they got together, they could exchange information and everything. So yeah, that was the most amazing part.

Mary:
So obviously as any parent navigating uncertainty knows finding answers is just the beginning. What came next in your journey was something really extraordinary after countless questions and searching everywhere for people who could help you found a team willing to listen. Let's talk about the moment when that search turned into something more, when science stepped in and the hope for personalized treatment began to take shape. What was it like hearing that for the first time people were tailoring science to your children's needs?

Dalila:
Amazing. I mean, I remember before reading about these very inspirational stories where children have had received gene therapy or other. So it was something that I dreamt of and now all of a sudden it's happening to us. And it felt so, it almost felt unreal. Yeah, I mean, for the first time ever, we really felt like we are at this moment not only surviving, but we are also hoping for something. And that means so much to my family, to my kids, to me, because this opportunity, it's beyond what I have ever could have dreamed of.

Mary:
What does hope mean to you today compared with when all this began?

Dalila:
So hope means everything to me because I often compare the days now with the days back in time when there basically wasn’t any hope at all. We lived day in, day out in uncertainty. Everything just seemed so hopeless as a mother to just living and have to watch my kids suffer and fight against their disease, not being able to provide any type of relief or any explanation to why they are feeling the way they do, fighting against time constantly and watching how the disease is slowly consuming them. It's very brutal. So I just constantly desperately kept telling myself that somehow, someday we will find a way. And I believe that we have now found a way, and it has given us so much hope, something to really look forward to, even though we don't know the outcome yet, we have come very far along.

Mary:
And just to clarify, has your older son Benjamin been dosed with the medicine already or are they still doing tests before

Dalila:
It's still in progress.

Mary:
There is a lot of work that goes into it, making sure it's safe, making sure it's actually going to work.

Dalila:
Exactly.

Mary:
What has this journey taught you about the power of science?

Dalila:
So it has really taught me the importance of persistence. The science is developing along with technology, but it really takes courage and strength to drive it forward. Advocacy isn't really optional. When you are a parent to children with a rare disease, it becomes a way of life. As their mother, I had no other choice but to continue and refuse to give up. You also learn to cherish all breakthroughs, no matter how big or small they are. The science holds the tools, but advocacy and persistence unlock the doors.

Mary:
So what began as a deeply personal journey has now resonated far beyond your family. Your story rooted in love, resilience, and hope is inspiring so many along the way. In your opinion, what does the future hold for rare disease drug development?

Dalila:
I really believe that the future is filled with many possibilities. Thankfully, the science is really progressing and also becoming more precise and collaborative. And I really believe that our case is a strong example of that. Thanks to the amazing people or our village as I would like to call it, we're now seen as never before. We are given the opportunity to raise awareness and we are also moving towards a brighter future. So even though we still don't know the outcome and what everything will turn out to be, I believe that we have come very far along and that the future holds hope. Not only in our case, but I believe for many others in similar situations.

Mary:
I think you're absolutely right. I think especially when it comes to rare diseases, collaboration is absolutely crucial for the logistical reason of people with the actual disease being scattered around the world and them needing to communicate with each other, their doctors need to communicate with each other. Yeah, I think collaboration is the ultimate goal for sure.

Dalila:
Yeah.

Mary:
So what do you hope your son's legacies will be?

Dalila:
So when I think about my two precious boys, I really believe that God chose us for this journey. So there must be something big behind this. I mean, for me as a mother giving birth to two boys that are like two in 8 billion, it's even hard for me to grab sometimes because it feels like some kind of a science fiction movie or something like that. But I would really hope that my voice will be known for not only the challenges that they are facing, but also how they are facing all the struggles. I want the world to see them as a proof that even in fragile bodies, there can be very powerful spirits. I really hope with all my heart that their struggle won’t be in vain.

Mary:
And finally, what do you hope listeners take away from your journey?

Dalila:
I hope that the listeners will get inspired by our story. I wish to share more understanding that even in the darkest moments, there is strength within us that we never imagined before. And I really believe that persistence is the key. I hope that this opportunity will be the desired major change for us, for my boys and their health, but also that our story can spark a change and help others feel less alone. Behind every rare disease there is a family, a struggle, but also a future worth fighting for.

Mary:
Thank you, Delilah, for being part of sounds of science. It's been a pleasure having you on the show.

Dalila:
Thank you so much for having me.

Mary:
For our listeners, if you are moved by this story, be sure to read the full article two in 8 billion on Charles River's Eureka blog and consider sharing this episode to raise awareness for rare disease families everywhere. Stay tuned for the next episode of Sounds of Science. Until then, you can subscribe to Sounds of Science on Apple Podcasts, Spotify, Stitcher, or wherever you get your podcasts. Thanks for listening.