In this issue: New research opportunity for siblings to individuals with SDS!
Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you!
An exploration of the experiences of siblings of people with a diagnosis of Shwachman-Diamond Syndrome
Living with a sibling who has a rare disease like Shwachman-Diamond Syndrome (SDS) can be a complex experience for the unaffected sibling(s). While they may not have the same physical symptoms or medical needs, the emotional impact can be significant and often introduce unique challenges to the family dynamic. Despite not having SDS themselves, the unaffected sibling's life is inevitably shaped by its presence, leading to a complex mix of emotions that require understanding and support from those around them. Other studies investigating the experience of siblings to individuals with inherited bone marrow failure syndromes such as Fanconi anemia have been published, but the experience of unaffected siblings to those with SDS have not been specifically explored… until now!
In our SDS & Science Snapshot this week, we are happy to share a new research opportunity exploring the experiences of siblings to individuals with SDS. This study is being led by Amy Doyle, a family therapy trainee at the University of Exeter in England, United Kingdom.
Here is what Amy, the lead researcher, shared about the importance of this study and how to get involved:
What is the purpose of this study?
The aim for this study is to learn more about the experiences of siblings to individuals with SDS from childhood to adulthood and to highlight the potential value in and usefulness of additional support such as therapy for families of people experiencing SDS.
What is your inspiration for leading this study?
I have an interest in and awareness of SDS due to a personal, family connection. In reviewing the current research and learning more about other chronic illnesses, I have recognized that the majority of support that is currently available is for affected individuals. I recognize and am learning that conditions like SDS have an impact on the whole family system and hope that this study can provide insight on this experience.
Who is eligible to participate?
Individuals who meet the following criteria are eligible to participate:
Siblings to individuals with a diagnosis of SDS
Adult participants at least 18 years of age
Must be able to speak English
Access to a computer, internet, and video-conferencing
How is this study being conducted?
Participants will be asked to answer a brief demographic survey online with questions about age, gender, ethnicity, geographical location, and education level. Following this survey, the lead researcher will conduct individual interviews online via Microsoft Teams. It is anticipated that the interviews will take no longer than one hour. These interviews will be recorded and transcribed by the lead researcher. The interview transcripts will be anonymised and analyzed.
What kind of questions will be asked?
Questions asked of participants will be particularly centered around individuals’ experiences as siblings, and to explore the impact that SDS has had on their lives as individuals and as a family. Questions will also consider the support that has been offered and is available, as well as what may or may not have been helpful for them and their families.
What will happen to the results of this research study?
The results of this research study will be analyzed and written up as part of the lead researcher’s final dissertation project. The lead researcher hopes to present the results of this study to the trustees of the Shwachman-Diamond Syndrome UK charity and potentially publish the results in a relevant journal.
Who is overseeing this research?
This research is being conducted as part of the lead researcher’s final dissertation at the University of Exeter. The researcher’s tutor Kate Campbell is overseeing the research.
The Data Controller for this research is the University of Exeter. Ethical approval for this research has been granted by the University of Exeter’s CEDAR psychology ethics committee.
How do I get involved?
If you are eligible or know someone who is, please don't hesitate to get in touch with me by emailing me at ad903@exeter.ac.uk. I can share my participant information sheet with you and answer any questions that you have.
Resources for Siblings to Individuals with a Rare Disease:
The Sibling Support Project: https://siblingsupport.org/
Sibling Leadership Network: https://siblingleadership.org/
Rare Sibling Stories: https://linktr.ee/raresiblingstories
Stay tuned to our SDS & Science Snapshot series next week to learn more about a new study which published growth charts specific for individuals with SDS!
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