By CRG staff - interview with Sharon Shaw Reeder

from GeneWatch 27-3 | Sept-Nov 2014

Sharon Shaw Reeder was diagnosed with mitochondrial disease in 1999. She has been a member of the United Mitochondrial Disease Foundation Board of Trustees for over a decade and was appointed to the FDA's first Mitochondrial Patient Advisory Committee.

GeneWatch: I noticed something while reading up a bit on this issue, and I wonder if you've noticed it too: In the popular press and in ethical debates about these procedures - so-called "mitochondrial replacement" or "three-parent babies" - the people who actually have mitochondrial disease are often overlooked.

Sharon Shaw Reeder: Yes, and I appreciate your understanding of that. Living with mitochondrial disease is like trying to find corners in a round room. It is the most complicated disease out there. Mitochondria are responsible for 90% of the energy produced in each cell in our body. This translates into everything we do - how we walk, how we talk, how we chew, how we digest, how our brains function - everything in our body requires energy, and when there is a defect in the mitochondria, all kinds of stuff happens. So for people living with mitochondrial disease, it can look like five to ten different illnesses. You can't just go to one doctor; I have a team of 14 different doctors. The best analogy I have heard is trying to run your house on two batteries. You just don't have enough energy to run your body properly.

When I was diagnosed, I got the message that I should get my affairs in order because I might not be here in a couple of years. That was 13 years ago, and obviously I'm still here. There is no treatment, and there is no cure, but there are therapies which help to manage the symptoms. So what I did was get busy. That was my therapy, to become a part of the solution instead of just wallowing in the devastation of being diagnosed with a chronic and progressive disease. I mean, none of us are getting out of here alive, right? We all get something.

My passion comes from this point: Mitochondrial diseases are not rare. But it feels sometimes sort of like Horton Hears a Who: "We're here! We're here!" One in three or four thousand have mitochondrial disease, and one in two hundred carry the possibility of passing on defective mitochondria, but there is very little money going into primary mitochondrial research.

We're early on in the timeline of understanding this disease. First they identify the problems, then they can understand the symptomology of it, then they can develop testing for it, and then the hard part: Getting everybody to know what it is, and creating treatments and cures.

And it probably doesn't help that it's such a complicated disease.

You know, if you have cancer, we understand that and we say "what kind is it?" We know there are over 200 different types of cancer, and there's pretty much a test for every kind of cancer out there. Well, with mitochondrial disease, if you ask "which kind?" ... there are literally tens of thousands of different kinds, because mitochondria have their own set of DNA. So when I say this is a complicated disease, it's times ten.

I have adult onset mitochondrial disease, which means it didn't hit me until I was 19. All of my muscles are affected, my eyes, brain, digestion but for me, it's been a long, slow progression. But nevertheless it is progressing. I am no longer able to do any type of activity which requires too much endurance or strength, so daily activity is now challenging. For the kids that are born and you can tell something is wrong very early, it's faster, and the mortality rate is 50%. At this point, we are probably of more use to researchers than they are to us. It's not their fault, it's just where we are at this point.

You've been working on this for 13 years. Is there anything in that work that makes you feel especially hopeful?

The United Mitochondrial Disease Foundation is one of the very rare nonprofits out there ... we do everything all under one roof: awareness, raising money for research, lobbying on the Hill and giving support and education to our families and community. It's exciting to see where we are today compared to 13 years ago, and I am thrilled to know that we're pushing the needle, we're making progress, and more people know what mitochondrial disease is.

The really important thing right now is that if we put more research into primary mitochondrial medicine, we could actually help not just those with mitochondrial disease, but many other diseases as well. There are links to Parkinson's, Alzheimer's, childhood cancers, diabetes, lupus, autism spectrum disorders ... there's an element of mitochondrial dysfunction in all of these other diseases. We have been trying to put a consortium together at NIH to bring together different types of research, to say to everyone already looking into the importance of mitochondrial function - cancer researchers, Parkinson's researchers, Alzheimer's researchers: Instead of all working in our own little cubicles, how about we all get together and collaborate on our research on mitochondria? Forget about two birds with one stone, you're talking about at least eight major disease populations being helped. We are stronger if we pull together.

What do you think about so-called "mitochondrial replacement" or "three-parent babies" - procedures that aim to prevent mitochondrial disease by modifying the oocyte?

I think that the science that is in place to primarily affect the transfer so that a mitochondrial mother - a potential mother who is a mitochondrial patient, who doesn't want to pass on the disease to her unborn child - I think the science is brilliant. I think this is the kind of science and research that helps future generations. I've heard all of the hoopla and the opinions about the moral and ethical issues, I've heard it called "designer babies," I've heard the fear and concern about it, that because we're manipulating the genetics to make sure the baby won't be born with mitochondrial disease, how can we know that's not going to lead to actual "designer babies"? Of course I wouldn't want that.

But that's not my issue with it. My issue is this: Can't we please take the research, the effort, the brilliance, the money that's being spent making sure that future generations won't have mitochondrial disease, and help those of us that are suffering right now?

You're putting all of that money into this procedure, and we can't even get the folks that are suffering now a proper diagnosis, let alone treatment. There are a lot of patients that are suffering right now. For me, it is so out of balance. We're not helping the population that's living with it now. We're not helping the children that are dying from it now.

I know I'm not being very diplomatic here, but it just seems a little backwards to me.

Where does that leave women with mitochondrial disease who want to have a baby?

I was pregnant and had mitochondrial disease and didn't know it at the time, since I was not diagnosed until one year after giving birth to my son. Being pregnant made my disease progress and I got weaker because of the strain on my body. It put me in a wheelchair at the time. So if I was to sit with a woman with mitochondrial disease who was thinking about getting pregnant, I would counsel her to really give that a long thought. I understand that we all have the right to procreate, but I might suggest she look into adoption or fostering. As a woman who has been through this, I know the risk she might be putting herself into.

Put it this way. U.S. News and World Report did a story when my son was about a year old, and they asked me the question: Had I known I had mitochondrial disease, would I have gotten pregnant and had a baby? And I could easily say no. Am I glad that he's here now? Absolutely. But no, I would not have done that. The other point is passing it on to him. As a parent, I don't feel like we have that right to be selfish in that way: That my need to procreate and pass on my genes is stronger than the risk that I might pass it on to my child. That's a very personal feeling, but I would find another way to love something, rather than to possibly pass on a life-threatening chronic illness.

Say a nuclear genome transfer procedure was available, so that through a surrogate you could have a child with some of your DNA but much less chance of inheriting mitochondrial disease. In retrospect, would you have considered going that route?

The answer then would have been maybe, but my answer now is no, not after living day in and day out with my symptoms. The possibility does not personally outweigh the risks. The procedure does not ensure that there isn't still a risk to the child. I couldn't be that selfish. It's not that important to me to procreate at the risk of passing on known suffering. Also there are not enough doctors right now to help our population let alone a population of new mitochondrial children; whether they are symptomatic or not they will still need to be followed.

Let me put it to you like this: What you're asking is, "Sharon, if there's a great chance that the baby would be OK, would you do this?" Because I've lived with this thing - because my whole life changed after my diagnosis and all of my plans changed, and forget Plan B, now I'm on Plan W - I cannot justify putting money into developing procedures that are only going to help someone down the road. People right now can't get treatment, they can't even get proper diagnosis. It's like spending fifty grand on furniture and rugs when not only have I not built the house yet, I don't even know where I'll live. I just think that we're way ahead of ourselves and forgetting about a population that's here right now, and in need.

Here's an analogy. What if someone was to say, "We're going to put all our money into genetically engineering rice so that 10 or 20 years down the road we can feed all the hungry people in the world." I would say: How about we put that money to use helping people who are starving today?

This kind of research we're talking about, on these procedures to help future generations sometime down the road, will cost billions of dollars. Meanwhile, there are so many families who need help right now and aren't getting it. It's maddening to me.

You were part of the FDA hearings in February that discussed these technologies, as a patient representative. Was there anything that surprised you during this process? Was there anything you found particularly disturbing or compelling?

I think one thing that surprised me was that some of the comments around the table were similar to what I just said, along the lines of "Given where we are on the spectrum of understanding this disease, it's so premature to be doing this. How about we just offer other solutions to a mother who wants to have a baby?"

I was pleased that the people around the table learned more about the complexity of mitochondrial disease, and that while the procedures sounded simpler, the disease itself isn't. And even with what we already know, there's still so much to learn. I was pleased to know that these experts sitting around the table were still learning about the disease. I think that the way the media spun these procedures was wrong - it's not "designer babies."

And I think there was a compassion around the table, a desire to help people.

Did you get that from everyone, regardless of their position on the procedures being debated?

I did. There was really a compassion to help disease populations. And I appreciated that. There was really a genuineness there to think through the issue and be careful and ask questions, and I appreciated the process the FDA put together to ensure that happened.

The other thing I got at the FDA hearings was that the passion and enthusiasm from these geneticists that figured out the procedure was unbelievable, and it was genuine. I just wish more of them would have that enthusiasm for patients that have mitochondrial disease right now.

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