A terminal diagnosis for my baby [PODCAST]

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“Eventually, this thankfully passed. Now, almost three years later, I know that this loss will always be with us. Miriam was beautiful, she was our only girl, she was perfect for our family, and she’s always missing.

Still, my memories of being in the hospital are incredibly sad but also peaceful. In part, this is due to the incredible support and love we got from our family, friends, rabbi, and community. But in a big part, this is due to the clear and honest way we got Miriam’s diagnosis and the support, concern, and compassion from her medical team.”

Sophia Zilber is a patient advocate.

She shares her story and discusses her KevinMD article, “Getting a terminal diagnosis for my baby.”

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Hosted by Kevin Pho, MD, The Podcast by KevinMD shares the stories of the many who intersect with our health care system but are rarely heard from.

Transcript

Kevin Pho: Hi, and welcome to the show, where we share the stories of the many who intersect with our health care system but are rarely heard from. My name is Kevin Pho, founder and editor of KevinMD. Today on the show, we have Sophia Zilber. She’s a patient advocate, and she wrote the KevinMD article “Getting a terminal diagnosis for my baby.” Sophia, welcome to the show.

Sophia Zilber: Thank you so much. Thank you for having me.

Kevin Pho: So we’ll get into your article in a little bit, but first off, can you share your story and your journey to where you are today?

Sophia Zilber: Sure. In 2017, I had a big tragedy. I lost my baby to a rare disease, to mitochondrial disease. I had three healthy boys, and she was my fourth baby. There was nothing in my pregnancy that would tell us that there could be anything wrong, and when she was born, she was absolutely healthy. That’s what it looked like. She had some difficulties feeding, which doctors assumed was normal and something she was going to outgrow.

Eventually, it increased, and she also became very lethargic. She kind of wouldn’t cry; she would sleep a lot. But again, it didn’t raise any alarm with her pediatrician, even though I did take her for checkups almost every day. They just didn’t seem to think that there was anything really alarming, and they believed it was something she was going to outgrow and get through.

Eventually, one day, it was actually a Sunday, she had a puffy hand, which was something that normally you wouldn’t even think there’s something very wrong. But because of her previous issues with feedings, something really alarmed me about her puffy hand. It was more of an intuition, because it didn’t look very scary or anything like that. But I called the doctor on call, and I said that I really would like to see the doctor today and not on Monday. I don’t even know what motivated me to say that. I’m normally not like this, but I felt something was wrong.

The doctor said, “Sure, please come right now.” And I told my husband, “Let’s go together,” which I also normally wouldn’t do. Again, I think it was just an intuition that told me something was very wrong. It was March; it was very cold. Literally within two minutes, we were both out of the house. I just quickly put some clothes on everybody, and we went there very fast, and I don’t know why.

When the doctor saw her, she said, “I need to call an ambulance.” She said her vital signs were very, very low, her temperature was very low, and her breathing was irregular. She called an ambulance, and we literally went with all sirens going to the hospital. Later on, I spoke to this doctor again, and she said that she was so shaken up by what happened. She said that if she had told us, “Come in an hour,” it would have been too late by then. She would have just died at home, because she could literally have died at any moment. So that’s our story, and that’s how it all started.

Kevin Pho: So first off, let me say I’m so sorry for your loss.

Sophia Zilber: Thank you.

Kevin Pho: So this is a pretty rare genetic condition, mitochondrial disease. Can you share a little bit more about what that is?

Sophia Zilber: Mitochondrial disease. Mitochondria are responsible for generating energy in the body, so they’re responsible for generating about 90 percent of the body’s energy. When that process doesn’t work correctly, it can affect the person’s entire body, and basically organs fail. Usually it affects the organs that use the most energy, which are usually the brain, heart, and lungs. That’s why there are a lot of neurological symptoms, but in reality, it could be pretty much any symptom in any organ.

Her case was extremely severe, too, because sometimes it starts slowly, sometimes it’s more mild, but in her case, it pretty much was extremely, extremely severe. She pretty much started to turn from a healthy baby to basically dying.

Kevin Pho: So this tragic event, of course, affected you in so many ways. One of the ways that it did affect you is that it turned your life toward patient advocacy. Can you share a little bit more about that journey?

Sophia Zilber: In my professional life, I also work with data. I work at Pfizer, actually. I work on clinical trials, and after my daughter died, I really wanted to use my professional experience to help with her disease. Since I work on data analysis, I know in rare disease there’s always a lot of data that needs to be analyzed, and there’s not enough funding or resources. So actually, at work, I also switched. I used to work in vaccines, and I switched to rare disease research units, which is very meaningful for me.

Outside of work, I also offered my professional help, and I worked with the United Mitochondrial Disease Foundation. I analyzed data for the patient registry. At that point, it had been there for about four years, and it hadn’t really been looked at by anyone, so I thought that was very meaningful. I have a paper on it that I published. I gave some presentations, and I have another presentation coming up soon also.

The data turned out to be not very useful for the analysis, but there were many important lessons about how to improve the registry, which I think could be extremely useful for many patient advocacy organizations who have patient registries. Even some companies that develop patient registries reached out, and they were interested to hear more about it. Also, the paper really gave voice to patients’ perspectives and their experiences, because there were some free-text questions where patients could describe their experiences, and so that was extremely meaningful, because we put quotes directly into the paper.

So that was something I did, and I continue to stay, you know, in that field. I’m right now on the board of directors of two rare disease organizations, and I made multiple other connections. I try to bring my professional experience, my personal experience, and my experience at work and outside of work and sort of combine it all together as much as possible.

Kevin Pho: What are some of the challenges facing patient advocates like yourself? And specifically, how is the pandemic affecting what you’re doing?

Sophia Zilber: I think usually when patient advocates like me start to do something in the memory of their child, let’s say, it’s usually something like fundraising. That’s a very common one, which I did as well, a lot. But I think that my situation was a little bit unusual, because I had professional experience. When I was doing something professionally, I assumed that, working professionally. But this may be unusual, and not everyone could see it that way. So people could say, “Either you’re a patient advocate, then you have to stay with the patients and you have to deal with patient activities, and kind of not get into the other area.”

So there were difficulties in that respect, and that’s unfortunate. I mean, there were a lot of positive responses and a lot of positive connections that I made, but there were some from some researchers and scientists that were disappointing. I wish there could be more collaboration, and people could be more open to the fact that everyone has their own different background.

Kevin Pho: And is there any way that the pandemic is affecting what you’re doing as a patient advocate?

Sophia Zilber: Yeah, I think on one hand, it’s harder, because all these patient advocacy organizations have less funding now. It’s harder to do fundraising. They have less time to focus on such projects. But there are also positive things, I think. For example, the fact that all conferences are now virtual, I personally see it as a good thing, in a way. For example, I have a presentation coming up. It was supposed to be in Germany, which was very interesting, but now it’s virtual, and I’m actually glad, because I think that now all the patients can hear it. It can just be shared much more widely than it could have if I went to Germany and only spoke to the people who were there. So I think there are a lot of positive things from the virtual connection.

Kevin Pho: Now, what’s something that’s inspired you during your journey as a patient advocate?

Sophia Zilber: A lot of patients go through so much suffering, and at the same time, they still have so much hope, and they’re so thankful, and they want to be involved so much. It’s true for me personally, and it’s also true for others, even from the responses in our paper, where people said that they’re having such a hard time. And yet when we had some other questions, like what is the thing that people want to express the most, they were very thankful, they’re very hopeful. So I think there’s so much that we could do together, because I think no matter what we go through, there’s always hope for something better. That’s very inspiring.

Kevin Pho: We’re talking to Sophia Zilber. She’s a patient advocate, and she wrote the KevinMD article “Getting a terminal diagnosis for my baby.” Sophia, I have a large number of clinicians who listen to this podcast. Now, from a patient advocate standpoint, are there any messages that you could share with my clinician audience?

Sophia Zilber: So I guess I will share it from both perspectives, as a patient and as a patient advocate. Just to relate it to my article a little more, I think from the perspective of my article, the message I wanted to share is that doctors can really, even if there’s no cure and no treatment, and doctors may feel like there’s really nothing that they can do, I think that they can still do so much, because their communication and just everything they do really matters.

My article describes getting a diagnosis, and specifically the moment when this information was communicated to us. We knew that there was no cure, there were no treatments, and it was very pessimistic and very negative. And yet the doctor who gave us this information, we always remember him with so much gratitude and so much warmth, because we felt like he was so extremely sensitive. He was honest. He didn’t give us false hopes. He didn’t mislead us. He had to tell us the truth, and he did, and it helped us a lot.

First of all, we had three kids at home. We needed to tell them what’s going on. We needed to figure out how our family is going to go on from here. So for us, that moment really split our life into before and after, and the doctor who was there, we will always remember him. So I think one message for clinicians is that anything they do, even if there is no hope, it doesn’t mean that they’re not doing anything. They’re doing a lot.

And as a patient advocate, I guess the message is it would be great to be more collaborative. You know, everyone has their own background, and some patient advocates are focused on fundraising, some focus on something else, and we can really achieve a lot if we all don’t put each other in boxes, but rather just look at the person in front of you and think, “You know, how can we work together? What can the person offer us?”

Kevin Pho: And my last question, Sophia: What is the take-home message that you want to leave with my audience?

Sophia Zilber: Our story is very tragic, and I think the message here is that life is complicated. Sometimes when a tragedy like this happens, people want to say, “You know, it’s going to be OK. You’re very strong. It’s going to be fine.” Even when my daughter was in the hospital, people said, “She will pull through it somehow. It’s going to work out.” And I guess the message is, you know, sometimes it does work out. Other times, it doesn’t work out, and something terrible happens, and this is just a part of life. Sometimes things just don’t go as you want, and we should all just try to do our best, whatever happens with us, and we just don’t know.

Kevin Pho: Sophia, thank you so much for sharing your story and insight, and thanks again for being on the show.

Sophia Zilber: Thank you so much again.

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