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 the Mom of a 6-year-old girl with SDS, I ponder this question every day.
What is SDS?
Shwachman-Diamond syndrome (SDS) is a rare disease that affects many parts of the body. Like many patients with SDS, my daughter has problems digesting and absorbing food. When she was little, every time she had my milk, she would be in so much pain that she would scream for hours, arching her back in agony. Can you imagine what that feels like to a mother? Even today, getting her to eat and grow is a constant struggle. Typical for SDS patients, my daughter also has a compromised immune system, which means a fever from a common cold can turn into a trip to the emergency room, or worse. On top of that, many SDS patients 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 leukemia at a young age―30% by age 30. Unlike leukemia in normal kids, which can be treated, leukemia in SDS patients is inevitably fatal. There is no treatment currently. It’s like living with a ticking time bomb.
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.
To mitigate the risk of leukemia, the current standard of care is bone marrow biopsy every year. The hope is to find pre-cancer clones early enough so that leukemia development can be stopped using bone marrow transplantation preemptively. However, bone marrow transplantation is a brutal process―it is a dangerous year-long ordeal and has serious long-term side effects. Bone marrow transplantation is really a last resort. Even so, biopsies cannot always catch bad clones, and bone marrow transplantation often fails to stop leukemia.
A Cure for SDS
What if therapy could be developed to stop blood cells from going bad and prevent leukemia development in the first place? Such therapy would correct the underlying problems of SDS and give us confidence that the bone marrow biopsy results would come back okay. We might not need bone marrow biopsy anymore! With such therapy, we would no longer have to worry about leukemia; we could expect our kids to have a normal life, as if SDS had just gone away; we could attend their graduation, dance at their wedding, and see their family grow... How wonderful would that be!?
With such therapy, we would no longer have to worry about leukemia
I believe that such therapy is nearly at hand. The science is there, and there are many types of therapies that can possibly get us there. These therapies have been applied successfully to several rare diseases:
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
Many more are in clinical trials (for severe combined immune deficiency, sickle cell anemia, and Fanconi anemia).
Why isn’t it available for SDS?
Therapy development is a complicated process that involves scientific research, disease modeling, drug development, clinical trials, regulatory approval, and patient participation. It requires many areas of expertise. We are very fortunate to have outstanding researchers and doctors who dedicate their careers to SDS, but there are still many gaps that they alone cannot overcome.
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 years and in the end, fewer than 10% of the applications get funded. A critical component of a successful application is early data, because the data demonstrate that the research plan is likely to succeed, and that the researchers have the ability to carry out the project. The problem with SDS research is that most researchers have never heard of SDS, let alone have sufficient data to get government grants. No data; no grant. And with no grant funding, there will be no research or early data. It’s a catch 22.
The problem has to do with how medical research is funded.
Together, we can make it happen!
We established the SDS Alliance to break this vicious cycle and enable therapy development. Our strategy is to:
Provide seed funding to highly selected experts and help them generate early data to get government grants.
Provide bridge funding to top researchers between government grants 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 enable new therapy development.
Remember the successful therapies that I mentioned above? Every one of them is a direct result of these actions. The strategy works. All we have to do is replicate the success for SDS!
When we succeed, we will be able to live freely without the fear of leukemia, and life will be normal as if SDS had gone away! The path is tried-and-true and YOU have the power to get us there. We need to take action NOW, because leukemia won’t wait. Please donate today. Let’s make it happen!
Our mission is to replicate the success. The path is tried-and-true and YOU have the power to get us there. We need to take action NOW, because leukemia won’t wait.