Vision & Mission
A Cure for SDS
From the Founder, Dr. Eszter Hars
“Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world where SDS could just go away, life could be normal, and we could live without the fear that another shoe is going to drop… How can we get there? As a Molecular Biology Ph.D., a biotech executive, and a Mom of a 6-year-old girl with SDS, I ponder this question every day.
Shwachman-Diamond syndrome (SDS) is a rare disease that affects many parts of the body. Like many patients with SDS, my daughter has a compromised immune system. A fever from a common cold often turns into a trip to the emergency room. When she was little, she would arch her back screaming in agony for hours after having my milk. Can you imagine what that feels like to a mother? Even today, getting my daughter to eat and grow is a constant struggle. It turns out patients with SDS have problems digesting and absorbing food. As a result, many kids with SDS fail to thrive. Many SDS patients also have skeletal problems; some need their rib cages surgically expanded just so they can breathe. Worst of all, SDS patients face a very high risk of developing blood cancer at a young age―30% by age 30―it’s like living with a ticking time bomb. How can we develop a cure?
Thanks to the hard work of many doctors and researchers, it is now technologically possible to develop a cure for SDS. There are many success stories where effective therapies have been developed for diseases that are as rare as SDS. For example:
Sirolimus (repurposed drug) for Castleman disease
Libmeldy (gene therapy) for metachromatic leukodystrophy
Spinraza (antisense oligonucleotide drug) for spinal muscular atrophy
Zokinvy (small molecule drug) for progeria
Luxturna (gene therapy) for congenital amaurosis and retinitis pigmentosa
In addition, several gene therapies are currently in clinical trials for severe combined immune deficiency, sickle cell anemia, and Fanconi anemia. These new therapies can prevent disease progression, correct the underlying problems, and extend the patients’ lifespan and quality of life. If such therapy were available for SDS, we would no longer have to worry about leukemia; we would be confident that our kids’ bone marrow biopsy results would come back OK―our kids might not even need bone marrow biopsies anymore! We could expect our kids to have a normal life; we could attend their graduation, dance at their wedding, and see their family grow...
Why isn’t it available?
Developing a therapy is a complicated process that involves scientific research, drug development, clinical trials, regulatory approval, and patient participation. It requires many areas of expertise. We are very fortunate to have researchers and doctors who dedicate their careers to SDS, but that is not enough.
The problem has to do with how medical research is funded. Before a researcher can start doing research, (s)he has to apply for a grant from a funding agency, which in the U.S. is primarily the National Institute of Health (NIH). The grant application process can take several years and in the end, fewer than 10% of the applications get funded. Even for those that do get funded, there is no guarantee that the next application will be successful and many researchers are forced to discontinue their research. It is particularly difficult to get grants for rare disease research, because rare diseases are often considered of low priority by the funding agency compared to heart disease, diabetes, cancer, and other common diseases. For experts who have the expertise in new therapies, it is unlikely that they will apply their expertise to SDS under the current system, especially as most of them have never even heard of SDS. What can we do to change this?
Together, we can make it happen!
So how did effective therapies get developed for Fanconi anemia, progeria, and many other rare diseases? Aren’t they as rare as SDS? As the Founder of the SDS Alliance, I have talked to the people who made it happen and studied how they succeeded. Interestingly, they all did the same things! First, they started a nonprofit organization. Next, they worked with their patient families and friends to raise funding. Then, they used the donation strategically to:
Provide seed funding to experts in specific therapeutic areas and help them get government grants to recruit necessary expertise.
Provide bridge funding between government grants to top researchers to keep research going.
Partner with research institutions and companies to develop essential tools for therapy development.
Organize patients to participate in research and clinical trials to deliver the new therapy.
These strategies overcome the problems that make rare disease research difficult. In fact, every successful therapy for a rare disease is a direct result of these strategies.
Our mission is to replicate the success. The science is there; the path to success is tried and true. We will get the best experts to apply their expertise to SDS, leverage government grants, and coordinate the research efforts that deliver cures. To execute this strategy, your financial support is key. Together, we can make it happen! Will you join us?