Our most frequently asked questions...
What is the purpose of the registry?
The SDS Registry partners with patients and families to accelerate research to find a cure for Shwachman-Diamond Syndrome.
Does it cost money to join/participate in the registry?
It does NOT cost anything to join or to participate in the registry.
What are the registry’s research priorities?
Our priority is CURING SDS, We will do this through collaborations across institutions to:
identify the complications of SDS and their treatments
develop new therapies for SDS
discover new causes of SDS
develop gene therapy/gene editing treatments for SDS
provide a resource of knowledge about SDS for patients, families and medical professionals
bring together patients, families, clinicians and scientists to help improve quality of life and treatment for SDS
Is it a lot of work to join the registry?
It is easy to join the registry. If you or your child has a diagnosis of SDS or an SDS-like syndrome, you can contact the registry at SDSregistry-dL@childrens.harvard.edu to set up a consent discussion over the phone or over Zoom.
Can you only join if you live in certain countries/states? Do you have to be a patient at Boston Children’s Hospital (BCH) or Cincinnati Children’s Medical Center (CCHMC) to join?
You can join from anywhere! Every patient's experiences and samples are important. Not only do we have patients from all over the U.S., but we also have patients from all over the world. You do not have to be a patient at BCH or CCHMC.
Will the registry keep my information confidential/private?
Keeping information confidential is our top priority. We take patient privacy very seriously and are constantly monitoring the methods we use to keep your information safe and secure.
If I consent to research samples (e.g. a blood sample, marrow sample, etc.), would this require an extra needle poke?
No. There are no extra needle pokes involved. We collect the research sample at the same time as a clinical sample is being collected using an extra tube.
Can I make a donation to the registry to support its ongoing efforts?
Does the registry only focus on blood-related problems in SDS?
No. The registry seeks to gain a better understanding of SDS not only as it pertains to hematology, but also to other areas of health including gastroenterology, orthopedics, neurology, psychology, and oncology among other areas. We know that SDS impacts so much more than the blood for many individuals, and the SDS Registry is working to learn more about all facets of SDS.
How will my health information (lab reports, clinic notes, bone marrow reports, etc.) be used?
Vital information locked away in your medical records hold important clues to advance our understanding of SDS. Securely collecting medical records shared by large numbers of patients with SDS from different ages and backgrounds and treating institutions helps ensure that this information represents the full diversity of the SDS experience from childhood through adulthood. Since SDS is a rare disease, every single patient participating in the SDS Registry makes an important contribution to this effort.
Is the SDS registry a resource for questions about SDS?
Are there a lot of people enrolled on the registry? Is there any benefit to having a lot more people enroll?
SDS is a rare disease, and every person who joins the Registry makes a difference. The higher the number of participants in the Registry, the faster and greater the scientific impact for everyone.
Can family members join the registry?
Absolutely. If your child, sibling or parent is diagnosed with SDS, we welcome you to join the registry as there is a great deal to be learned about SDS from family members.