Jamie and Alexander Silver founded the Jackson Gabriel Silver Foundation in 2010, following the birth of their son Jackson and his diagnosis with recessive dystrophic epidermolysis bullosa. Recently, we spoke with co-founder and mom Jamie about what the foundation is doing to make a difference in the EB community. We will be featuring this conversation over the next two weeks.
This week, Jamie talks about the family’s introduction to EB and how she and her husband set out on a mission to create an organization focused on one key objective: supporting research efforts to develop a cure and improved treatments.
EB Resource (EBR): Let’s talk about how you and your husband first became aware of EB. When was your son Jackson born and how long afterward was he diagnosed with epidermolysis bullosa?
Jamie Silver (Jamie): Our son was born in fall of 2007. When he was first born, the doctors didn’t notice anything wrong other than his nails were discolored and that he had a blister inside his mouth, which were not thought to be major problems. When Jackson had a heel print the next day, the nurses covered the area with a Band-Aid, and when it was subsequently taken off, it removed the skin from his entire heel. They immediately rushed him to the NICU for special care. In the NICU, he received an IV that was taped to his finger, and when that was removed, it took all of the skin off of his finger. I think many parents of newborns with EB hear a similar story — the hospital staff is well meaning but has never seen EB before and doesn’t know how to handle a child born with it. In Jackson’s case, he was fortunately diagnosed soon after his birth by a pediatrician who had trained at Children’s Hospital of Philadelphia where she had seen EB prior.
EBR: What’s going through your mind as a parent when you receive news of this diagnosis? Were you familiar with it at all?
Jamie: No, we had never ever heard of EB. Jackson was our first child. We were completely shell-shocked. Thinking back to that time is a blur. I have memories and glimpses of myself sitting in the NICU and remember being so frightened about what they were telling me and all of the complications that Jackson might have as a result of EB. Within a week of his birth, we transferred him to a hospital where they had treated other newborns with EB and had a specialist on staff. I remember the first time we ever watched them do a bandage change, and they took out all of these needles and supplies and thought, "I don’t even know how to take care of a baby yet. How am I going to be able to do this?" He spent several weeks in the NICU and we learned how to care for him before bringing him home.
EBR: Tell me what that experience was like for you and your husband.
Jamie: EB’s physical manifestation arose quickly. Jackson lost all his nails and formed blisters in his mouth and all over his body. My husband and I had to learn how to treat our son and improvise in new situations as they arose. I was briefly in touch with some other families, but in the beginning, I found listening to the stories overwhelming. It took me a little time before I could fully immerse myself in the community because I needed time to process everything myself. My husband started doing a lot of reading and learning about what was happening in the field of research. It took time to adjust to the reality of our lives versus our expectations. We are stronger as a family as a result, but we worked hard to get there.
EBR: Where along your journey did you decide that you wanted to do more, that you wanted to launch an organization focused on the EB community?
Jamie: What really drove us to start our foundation was that we wanted to focus our energy purely on funding EB research. Alex quickly realized that with such a rare disease and diverse patient population spread all around the globe, pharmaceutical companies were going to need a push to be interested in EB, because it is incorrectly perceived as too small of a market. It was going to rely on families working with policy makers and the private sector to advance EB treatments in a timeframe that helps today’s kids. That’s where we got the idea to create something focused solely on research and with a lean infrastructure, we could pass almost all of the funds onto researchers.
EBR: And you launched the Jackson Gabriel Silver Foundation in 2010, right?
Jamie: Yes. In 2009, we held a fundraiser for a family fund set up within DebRA of America. We knew we wanted to educate the people in our community and raise money for research (specifically, David Woodley’s protein-replacement therapy at USC). We thought that if 100 people attended that it would be amazing. It turned out that 200 came and we had to stop selling tickets!
We raised almost $70,000 at our first event and quickly realized that we were onto something. If we were going to raise a lot of money, then we wanted it to be specifically for research, as we think it is the best gift that we can give any child living with EB, and we also knew that we could keep expenses low so most of the funds would go to the researchers. So that’s where the idea of starting a 501c3 began and we launched in 2010.
EBR: You mentioned that your group is open to supporting various kinds of therapies and treatments across different institutions. Are there particular facilities or research organizations with whom you’ve partnered most frequently? Tell us about the different research efforts your organization supports.
Jamie: The first big project that we raised money for was Dr. (David) Woodley and Dr. (Mei) Chen at the University of Southern California who were working on a protein-replacement therapy for dystrophic EB. We felt it held a lot of promise based on years of published research and was showing good results in models. Our research showed that protein-replacement therapies had successfully made it through the FDA and the protein in question – Collagen VII – was a “cousin” to Collagen I, which was approved for cosmetic treatments. In speaking with experts, it also seemed that protein-replacement therapy was the most likely candidate to get to those who needed it first given the regulators’ understanding of it. Finally, our Foundation is backing both treatments that increase quality of life significantly as well as cures. While protein-replacement therapy is not a cure, it could make the difference in living a long and full life vs. a shortened and painful one.
We have also supported protein-replacement therapy at Stanford University and stem cell gene therapy at the University of Minnesota (not the current bone marrow transplant program). We have set up a matching campaign with EBMRF (Epidermolysis Bullosa Medical Research Foundation) for the University of Minnesota and Dr. (Jakub) Tolar who is coming up with a gene therapy which involves taking cells from EB skin and re-engineering them. Because it’s the patient’s own cells, there would be less risk of rejection. So they wouldn’t have to go through the same chemo and all of the things that have made the current stem cell transplants so tricky. DebRA is also supporting Dr. Tolar’s work. At Stanford, they’re also doing some protein therapy through a different method of delivery, so we are interested in seeing which one works most effectively, which could be something different for each person.
Also, along with the EBMRF, we have established something called the EBCRC, the Epidermolysis Bullosa Clinical Research Consortium. It’s a research consortium so there are a variety of different physicians at leading research hospitals that meet regularly to collaborate on best practices and translational research. We established the Consortium to advance their knowledge of EB and improve outcomes for EB patients.
EBR: That sounds very similar to what they’ve tried to do with Stand Up to Cancer and that particular movement to unite cancer research efforts.
Jamie: Yes, Dr. (Alfred) Lane at Stanford and other doctors mentioned that there was a research consortium for rheumatoid arthritis and they found so much great stuff has come out of these doctors collaborating, so that was the premise behind it — that it has worked really well for other diseases in advancing care and research. It should also help support these research trials that are going to be starting in 2013.
EBR: Is the Consortium and its discussions and findings something that is currently a resource available to the public through a website or other communications or is the collaborating being done privately between the institutions solely?
Jamie: They are meeting and working together privately for now with the goal of expediting clinical research on EB. One thing that has really struck us in talking with the researchers and having a front-row seat of what is happening in EB research is the doctors’ enthusiasm. I think the doctors feel way more encouraged than they ever have, that things are starting to move ahead, there’s starting to be more funding available and people are working together. We just returned from the Patient Care Conference and there was a real sense of optimism from the research front.
Next week, we’ll continue our conversation with Jamie as she discusses which fundraising efforts have been most successful for the foundation and what her son thinks of mom and dad’s work in the EB community. For more information about the Jackson Gabriel Silver Foundation and the work they are doing, visit the organization’s website at www.jgsf.org.