Perspectives on Rare Disease Day

Since 2008, World Rare Disease Day has been observed every February in recognition of the patients, families and caregivers immersed within the rare disease community.

Rare Disease Report works tirelessly to ensure that both physicians and patients have the most up-to-date information as it pertains to the science and research necessary as strides continue to be made toward new potential therapies and treatments.

Below, you’ll find a few quick excerpts from interviews conducted by Rare Disease Report since Rare Disease Day 2017. These quotes come from respected, well-known personalities working within the rare disease community, and stress the importance of continued funding, research and collaboration, among other important topics.

--

John Maslowski; President and CEO of Fibrocell Science, Inc. on working with families and advocacy groups

“We believe working with advocacy groups is really important because they are, clearly. the ones who know what the need really is. We may scientifically look at it one way, but their kids may be having certain conditions and we need to learn about it because that’s where the outcomes are. They are such a huge benefit in drug development.

We do work with families directly, too. You can imagine that rare disease families who are really desperate for help are always trying to learn more, and getting more involved. They want to know how they can become involved in clinical trials and, obviously, we’re set up to work with them and to learn from them. We obviously put in the proper controls to make sure we aren’t affecting anything from a clinical standpoint with patients. But we do work and have interacted with our families directly, either through direct contact or through the advocacy sites. We see both and we benefit from both relationships.”

--

Deborah Ramsdell; CEO of Valerion Therapeutics on the common misconceptions of raising funds for research

“A lot of people think that this is about charging a lot of money for a drug to treat very few patients. What those people fail to understand is that these patients are just as important as diabetics and just as important as patients with cancer. They live very difficult lives and they get up every day, go to work, do their jobs and raise their families, and it’s critical that we think about them because we learn from them things that can be applied to larger diseases. Rare Disease Day helps to get the word out there. It helps patients who have the disease say, ‘See? This is the disease I have. People are talking about it.’”

--

Simon Heales; Professor of Clinical Oncology at the Great Ormond Street Children's Hospital in London on attending patient meetings

“I think you just have to look around the room and the rare disease community — You can see expertise from so many different backgrounds; you’ve got clinicians seeing patients face-to-face. You’ve got scientists, nurses and therapists all working together, and when you get a melting pot of professions working together, ideas start to generate.

Even just the term ‘rare diseases’ doesn’t help, because when people hear it, they don’t think it has a high enough priority. I think that one thing I’ve learned over the years is that, while a disease might be rare, to the individual, it’s everything. It’s everyday life. When we think about rare diseases, we have to think about the individuals. Collectively, when you put rare diseases together, they’re actually quite common.”

--

Patti Dickson M.D.; Professor of Pediatrics at Los Angeles BioMedical on the hesitancy of doctors when working with patients and families

“One of the things that makes rare disease research so special is that interaction [between researchers and patients]. It’s something that can be scary to a lot of people, honestly, when they come into it. Researchers and doctors aren’t always used to having that kind of relationships with families, but it can be incredibly positive. Many times, when a family first starts on this journey, they don’t understand the time that it takes and that we’re all human beings; we have expectations put on us that are really not possible to meet. On the same token, though, working with these patients helps us to take risks that we otherwise might not take. They push us in a healthy way. They’re also incredibly important in raising the funds for research. I think we probably do comparatively better in rare disease as opposed to other areas because of the help of the families.”

--

Mary Sedarous, M.D.; Medical Director the ALS Clinic at Hackensack Meridian Hospital in New Jersey/ Robert Wood Johnson Medical Student Site Director for Neurology Clerkship at the Jersey Shore University Medical Center on the obligation of finding an accurate diagnosis

“The first thing is, you have the obligation as a physician to identify any disease that can be treated, because the alternative is an untreatable disease. That requires extensive testing, which not only requires extensive resources, but also time, and sometimes that’s time that the patient doesn’t have. They, before you, want to know what is going on and why their symptoms are progressive.

As amazing as the research going on right now in ALS is, a lot of patients don’t have and won’t have the time, so at the front of it is managing patients with ALS now and not just waiting for the next therapy to come. It is the day-to-day struggles that they have for which you really have to be there for them.”

--

Louise Vetter; President and CEO of the Huntington’s Disease Society of America on the importance of time

“One of the greatest challenges working with the HD community is the ever-present clock on the wall, and the awareness of time ticking down. My very first day at HDSA, I got a call from a grandfather, who started off the conversation by saying ‘Louise, I know you’re new to HDSA, but I need to give you a timeframe. I need you to tell me when there’s going to be a cure for this thing, because I’m losing grandchildren at this point.’ It’s heartbreaking. It’s so hard to communicate the tangible help that we have today; the doctors, the social workers, the support groups, the communities of families that can make living with Huntington’s disease easier.

At the same time, we’re still in unchartered territory when it comes to having disease-modifying treatments. I am very optimistic; there is great science happening. There are breakthroughs literally every year that are bringing us closer and closer to a time when HD will not be the burden that it is, but right now, as I meet with families, and talk to them on the phone, I’m talking about hope that isn’t immediate enough. That transition of time, generation-upon-generation is exhausting, and I feel that.”

--

Rami Levin; President of Sobi in North America on the need for more information

“I think that one of the main challenges in rare diseases is the lack of information. Obviously, there are very few treatments available, and in those areas, you may find some information, but there’s a wide variety of areas where there’s no information available. Patients lack the information, and lack the knowledge, and are desperately seeking information. Being able to reach out to support those patients is critical. I think there’s a lot of discussion around access to therapies.”

--

For daily updates from the rare disease community, follow Rare Disease Report on Facebook and Twitter.