PATIENTS & FAMILIES
The SDS Registry is committed to supporting patients and families living with SDS through education, access to physicians experienced with SDS, updates about SDS research, connection to the SDS Community, and opportunity to join the effort to cure SDS.
Why a registry?
SDS is rare. We still have much to work to do to understand SDS and its medical complications. Progress on SDS research without a Registry was slow, and important questions could not be addressed.
Each hospital only sees a few patients (or even just a single patient) with SDS so experience is limited
Information is siloed in individual hospitals and not studied all together
An individual project only provides a single snapshot of SDS without looking at changes over time
Individual projects often do not build on prior projects
The registry collects data over years of time and is able to provide a clearer picture of SDS and build on previous projects to push our understanding forward. By contributing data and samples to the Registry, patients and families with SDS can accelerate research to find a cure for SDS.
If it wasn’t for the Registry linking people together, we wouldn’t be a part of this, and we wouldn’t have a diagnosis.
Pam Miller, mom of three children with SDS
Makenna was first put on Hematology/ Oncology’s radar at ten weeks old when it was discovered that her hemoglobin levels were critically low. Ten months later, she was tested for SDS and genetically confirmed.
Today Makenna is a sweet and spunky toddler who loves to play with her friends, play outside, and talk. Makenna’s proud parents are Derek, an engineer and Tracy, a teacher. They hope to model a spirit of resilience and grit for Makenna so that she grows to know no limits. They enjoy raising money for the Registry, because they know it is essential to improving treatments for those affected by SDS.
The Registry gives them hope for a cure!
How families are reshaping SDS research
Both Chase and Lincoln were born Shwachman-Diamond Syndrome, a rare and incurable condition. Thanks to dedicated clinicians and researchers, their parents have found hope.
Meet the Miller family
It’s been a journey for this SDS family to reach SDS diagnoses for three of their four children.
Scott Miller, the second of the Miller children, was diagnosed with pancreatic insufficiency at just 18 months. Initially, an SDS diagnosis was not thought likely, because he lacked SBDS mutations. When he was 5 years old, it was recommended by another SDS family that they connect with a hematology/oncology specialist. At age 6, Scott received his first bone marrow biopsy and ultimately reached his diagnosis of clinical, genetically undefined SDS.
At the same time, Scott began his evaluation, their son Jonathan, 14 months old, also received a bone marrow biopsy. Jonathan experienced frequent infections and ear infections leading up to his diagnosis with SDS. Although he still lives with some gastrointestinal issues today, he is excelling at school.
Meagan, diagnosed with IBS at 3 years old, always had immune system challenges growing up. It wasn’t until she enrolled in the SDS Registry — because of her connection to her brothers and their mutations — that they were able to reach her own SDS diagnosis, at 10 years old.
“If it wasn’t for the Registry linking people together, we wouldn’t be a part of this," says mom, Pam Miller, "And we wouldn’t have a diagnosis.”
Today, Meagan, Scott and Jonathan are thriving. They attend school and participate in extracurricular activities.
The Millers encourage families to join the Registry, because it creates an important community and an understanding that SDS may present differently from patient to patient.
The Registry is a vital resource to educate and support families, while keeping everyone actively engaged in the SDS journey with the ultimate goal to find a cure.