Question 1

What is the purpose of the registry?

Accepted Answer

The SDS Registry partners with patients and families to accelerate research to find a cure for Shwachman-Diamond Syndrome.

Question 2

Does it cost money to join/participate in the registry?

Accepted Answer

It does NOT cost anything to join or to participate in the registry.
 
All of our research activities are currently funded by federal and institutional grants, and by the commitment and support of donors.  With the help of donations of all sizes from people like you, the SDS Registry researchers are working to achieve life-saving advances for people with SDS.

Question 3

What are the registry’s research priorities?

Accepted Answer

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
Join our Facebook community!

Question 4

Is it a lot of work to join the registry?

Accepted Answer

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.
 
Once the signed consent form is returned to our team, you/your child will be enrolled.  We will work with you to obtain copies of medical records and to send blood and marrow samples when these are being drawn as part of clinical care (no extra needle pokes!).  
 
Specifically, participants in the SDS Registry are asked to:
  1) sign a medical release form/provide medical records
  2) contact the Registry prior to any bone marrow exams so we can arrange sample shipment.

Question 5

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?

Accepted Answer

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.

Question 6

Will the registry keep my information confidential/private?

Accepted Answer

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.

Question 7

If I consent to research samples (e.g. a blood sample, marrow sample, etc.), would this require an extra needle poke?"

Accepted Answer

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.

Question 8

Can I make a donation to the registry to support its ongoing efforts?

Accepted Answer

Absolutely! Every donated dollar helps advance research on SDS.  The donation process is simple, quick, and secure.  Click here to make a tax-deductable gift.

Question 9

Does the registry only focus on blood-related problems in SDS?

Accepted Answer

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.

Question 10

How will my health information (lab reports, clinic notes, bone marrow reports, etc.) be used?"

Accepted Answer

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.

Question 11

Is the SDS registry a resource for questions about SDS?

Accepted Answer

Yes. Beyond being a community for patients and families to participate in the search for a cure, the SDS Registry is also a resource of up-to-date information about SDS.
 
Patients and parents are welcome to contact one of our SDS registry doctors with clinical and research-related questions. Additionally, a patient’s local hematologist may contact our SDSR clinical team for current information about SDS.  The SDS Registry also provides additional information about SDS via our various publications. as well as through posts on our Facebook page.

Question 12

Are there a lot of people enrolled on the registry? Is there any benefit to having a lot more people enroll?

Accepted Answer

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.

Question 13

Can family members join the registry?

Accepted Answer

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.

Question 14

I just scheduled my/my child's annual bone marrow. Now what?

Accepted Answer

Contact sdsregistry-dL@childrens.harvard.edu so we can send you a kit!  If at all possible, it is better to schedule marrow exams early in the week to allow for shipping.

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