What would you do if your child had a very rare and possibly terminal disease? Everything, of course. Since birth, Ipswich fifth-grader Talia Duff has been struggling with a rare disease known as CMT4J - and her mother has worked tirelessly to enroll friends, family, community members, and gene-therapy researchers to help find a cure. Her journey has taken her all over the country, most recently to Bethesda, Maryland, where she met for the first time with her medical-research team. We caught up with Jocelyn Duff to ask about her efforts on behalf of Talia and other kids who could benefit from potentially life-saving gene therapies.
Newburyport Macaroni Kid: How is Talia doing?
Newburyport Macaroni Kid: How is Talia doing?
Jocelyn Duff: Talia is ok. She has had a difficult year after falling and fracturing her lower leg and ankle in August of 2015. As rare as her disease is, we do know that most people report a link between trauma - even minor injuries- - to triggering or exacerbating her condition, known as Charcot Marie Tooth Disease, Type 4J (CMT4J). This seemed to be the case with Talia as well. She quickly began to lose a lot of strength in her upper arms, especially her right arm, which is her dominant arm/hand. She can no longer raise her arms up to shoulder height and she has not been able to get back to using her walker since the fall. She requires maximal assistance with walking even very short distances, cannot stand unaided, and relies mostly on her wheelchair now. She cannot roll over, sit up from lying down, or do other simple things that most people take for granted. She can no longer lie flat, as the muscles used in breathing have also weakened. She has had several episodes with difficulty breathing since this Spring.
Despite all of this, Talia remains her optimistic, funny, sweet, empathetic self. She will often ask me to help her "jump" or "skip" as I help her to walk from room to room. Occasionally she will point out to me that her arm is weak, that she can't walk, or she will ask me, "Is everything going to be ok?" The last question always makes me pause or choke back a tear, because I often don't know how to answer. Now that we have a clear path towards developing treatment/cure for her disease, it is easier to use this as a way to answer her, "Mom and Dad are working as hard as we can to help the doctors make a medicine to get you stronger again."
MK: Being the parent of a child with an extremely rare disease is an extremely rare experience. How have you drawn inspiration and support from other parents in similar situations?
Jocelyn: It is very isolating and lonely. I have spoken with three other families with children with CMT4J - one in Ohio, another in the UK and another in the state of Washington. Two of them have a much milder course than Talia so far; the other is a six-year-old boy who is about as severely affected as Talia. But I think that as the family who has set everything up to further awareness and treatment for this disease that others really look to us for support and inspiration.
We have found the larger rare disease community to be immensely helpful and inspiring - parents of children with similar rare or ultra-rare diseases who have also taken on the task of pushing science towards a cure or treatment. It is a small, but growing, community of families who are gradually creating a roadmap from diagnosis to creation of a foundation and the path to find and fund a cure. The Talia Duff Foundation was formed in Spring 2016 to raise funds to support the research, development, and production of a therapy or cure for CMT4J.
It is truly amazing to see parents become self-taught scientists, entrepreneurs and advertising/media experts all at once, at heartbreaking speed, in an effort to save the lives of their children.
It is truly amazing to see parents become self-taught scientists, entrepreneurs and advertising/media experts all at once, at heartbreaking speed, in an effort to save the lives of their children.
MK: At what point did you realize that helping Talia would require not just supporting her health-care team but also advocating for change within the medical research community? How are you going about it?
Jocelyn: As soon as we were given the diagnosis (over the phone), a year ago September, I knew instantly that we had essentially been handed a diagnosis with no hope. We received no offer to help us research the disease or to even look further for someone who might know more about it. After considerable grief, sadness and anger, I began to research.
I found a handful of recurring names on papers talking about the disease both on a clinical level, as well as what the gene and mutation looked like on a cellular level. That led us to a Neurologist at the University of Iowa, who had an excellent clinical team and was very supportive, but again, offered no hope for any sort of treatment. We had waited six months to see a PhD/MD Neurologist at Vanderbilt University and so as a last-gasp mission for hope, traveled to Nashville to see Dr. Jun Li this past May. As I was regaling him with Talia's history, showing charts of disease progression over time, he stopped me to let me know there was a possible cure. He began to talk about gene therapy and how another Mom of a child with a different rare disease had taken on the challenge of finding and funding a cure. Gene therapy offers the possibility of "fixing" the one faulty gene, thereby halting and hopefully reversing the effects of the disease. Dr Li now heads our medical research team.
Parents of children with rare diseases know the sad truth that there is little funding or interest in researching rare diseases, as the pharmaceutical industry and biotech are not interested in a disease that affects so few. They also understand that these diseases typically progress too quickly for the normal channels of science to offer them any hope. Typically, the development of a new drug takes at least 8-10 years to get to market. Many of these rare diseases will cause irreversible damage or death within this time period. Like so many of these other families, we created our own foundation, website and social media outlets to raise awareness for the disease, to find other patients and to raise funds to develop a treatment/cure.
Over the past three months we have researched and identified the world experts in Talia's disease. Our community, friends and family raised the funds to enable us to gather them together this past month, in Bethesda, for the first ever symposium on Charcot Marie Tooth Disease, Type 4J. We met with seven scientists from several institutions - Vanderbilt, UNC Chapel Hill, Johns Hopkins, NIH, University of Michigan, Jackson Labs in Maine - to begin developing a treatment for CMT4J.
I found a handful of recurring names on papers talking about the disease both on a clinical level, as well as what the gene and mutation looked like on a cellular level. That led us to a Neurologist at the University of Iowa, who had an excellent clinical team and was very supportive, but again, offered no hope for any sort of treatment. We had waited six months to see a PhD/MD Neurologist at Vanderbilt University and so as a last-gasp mission for hope, traveled to Nashville to see Dr. Jun Li this past May. As I was regaling him with Talia's history, showing charts of disease progression over time, he stopped me to let me know there was a possible cure. He began to talk about gene therapy and how another Mom of a child with a different rare disease had taken on the challenge of finding and funding a cure. Gene therapy offers the possibility of "fixing" the one faulty gene, thereby halting and hopefully reversing the effects of the disease. Dr Li now heads our medical research team.Parents of children with rare diseases know the sad truth that there is little funding or interest in researching rare diseases, as the pharmaceutical industry and biotech are not interested in a disease that affects so few. They also understand that these diseases typically progress too quickly for the normal channels of science to offer them any hope. Typically, the development of a new drug takes at least 8-10 years to get to market. Many of these rare diseases will cause irreversible damage or death within this time period. Like so many of these other families, we created our own foundation, website and social media outlets to raise awareness for the disease, to find other patients and to raise funds to develop a treatment/cure.
Over the past three months we have researched and identified the world experts in Talia's disease. Our community, friends and family raised the funds to enable us to gather them together this past month, in Bethesda, for the first ever symposium on Charcot Marie Tooth Disease, Type 4J. We met with seven scientists from several institutions - Vanderbilt, UNC Chapel Hill, Johns Hopkins, NIH, University of Michigan, Jackson Labs in Maine - to begin developing a treatment for CMT4J.
MK: Your initial fundraising and organizational efforts have met with great success. How do you feel that your own personal background has helped prepare you for this challenging role?
Jocelyn: I have been a Physician Assistant practicing medicine for the past twenty years, so this has not helped me at all for this role! I also have a really hard time asking people for help. But when your child's life is at stake it suddenly becomes much easier to reinvent yourself. As soon as we knew that we wanted to pursue gene therapy and what it would take to get there, we immediately began to identify family and friends around us who we thought might possess skills or experience that could help us to get to this endpoint. We knew we could not do this by ourselves. Thankfully, we are surrounded by very smart, creative people who have incredible experience in development, fundraising, entrepreneurial ventures, and media relations - and we have the honor of calling them friends and family! We could not have gotten to this point without them.
MK: What has been the response from area residents and the local business community?Jocelyn: We have been overwhelmed by the empathy and support from our community. Talia certainly deserves some of that credit, as she is known far and wide in our community. As a boastful parent I will say that she is the kind of person who makes you a better person for having known her or for having shared an experience with her. She has such an amazing outlook on life. Because of her infectious joy she seems to be welcomed and celebrated everywhere. She is sort of known as "The Mayor" at her school, kids go out of their way to share a moment with her. Many of the faculty and staff there recently nominated her for the "Ellen" show. The school community has recently shown an incredible amount of support with our "CureCMT4J" shoelaces fundraising campaign. It has spread through the middle and high schools, with coaches purchasing laces for their entire team. Businesses have supported bake sales and lemonade stands in front of their storefronts. Kids hosted lemonade stands over the summer. Fishing tournaments and sunrise yoga for 100 participants have contributed immensely to our fundraising. We really could not have done this without the support of our community.
On October 15 we will be hosting a celebration at the St. Lawrence Literary Society in Ipswich to thank our generous community for raising $30,000 to assemble a team of world leading researchers and clinicians to lead our efforts. Come on down and hear about our progress! There will also be live music and raffles. (Click here to check out the event on Facebook.)
On October 15 we will be hosting a celebration at the St. Lawrence Literary Society in Ipswich to thank our generous community for raising $30,000 to assemble a team of world leading researchers and clinicians to lead our efforts. Come on down and hear about our progress! There will also be live music and raffles. (Click here to check out the event on Facebook.)
MK: How have you balanced your home life with your work on Talia's behalf?
Jocelyn: It has been a challenge - especially for my thirteen year-old daughter. It is easier now that kids are back in school from summer vacation and I have taken a temporary leave from my work. I try to get most everything done while kids are at school or after they're in bed. It's easy to push through and put in sixteen-hour days, but then I know that I need to be present for my kids and I don't want to sacrifice the present for the future.
MK: What do you hope other parents might learn from your experience?
Jocelyn: I hope that others might understand that most anyone could tackle this same challenge. Your instincts kick in and you just do what you have to do out of love for your child.
MK: What is the Talia Duff Foundation working toward right now and how can we help?
Jocelyn: We're working on pre-clinical trials to prove that gene therapy works with the CMT4J gene/disease mutation. Now is the time when our fundraising really needs to ramp up. Donations can be made online, and we will also be going beyond our local community and to reach out for larger business and corporate donors. We will begin to write grants that have shorter or rolling timelines for funding. We could always use help with grant writing and fundraising ideas. We need help in connecting with people who can help us to educate government and the scientific community of the paucity of funding and attention that rare diseases receive.
MK: What haven't we asked that you wish we would?
Jocelyn: What is my greatest fear? That we will not get there in time for Talia and others. We need to move quickly. We need government and the scientific community to wake up and realize that this responsibility should not rest on the shoulders of parents of children with these rare diseases.
The Talia Duff Foundation raises funds to support the research, development, and production of a therapy or cure for CMT4J. Find it on Facebook.
Do you know a mom who deserves recognition? Nominate her here!
The Talia Duff Foundation raises funds to support the research, development, and production of a therapy or cure for CMT4J. Find it on Facebook.
Do you know a mom who deserves recognition? Nominate her here!
