Living with Shwachman-Diamond Syndrome: What Lab Tests Can't Tell Us
- Eszter Hars, Ph.D., President and CEO, SDS Alliance
- Apr 2
- 5 min read
Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog.
In this episode, the spotlight is on SDS-GPS and the addition of Quality of Life (PROMIS) surveys - in five languages!
For families living with Shwachman-Diamond Syndrome (SDS), the gap between what shows up in a medical record and what daily life actually feels like can be enormous.
Your child's ANC came back stable. The bone marrow biopsy showed no changes. From a clinical standpoint, it was a good visit.
But you were exhausted that week. The worry about what comes next is a constant background noise. Your child missed three days of school because of pain. You've been snapping at people you love because you're running on empty.
None of that is in the medical record. And for a long time, none of it was in the research record either.
That's changing — and you're part of why.
Why Quality of Life Data Matters for Shwachman-Diamond Syndrome Research
For rare diseases like Shwachman-Diamond Syndrome (SDS), most research focuses on the biological — blood counts, bone marrow findings, genetic variants. These are critical. But they tell an incomplete story.
To design treatments that actually improve people's lives, researchers need to know: what does living with SDS actually feel like, day to day? How does it affect energy, the ability to think clearly, mood, relationships, the sense of being able to manage? How does it change over time, with the seasons, after a hospitalization?
This is what quality of life research captures — and it's increasingly recognized as essential for clinical trial design, regulatory decision-making, and understanding the true burden of disease.
Introducing PROMIS Quality of Life Surveys to SDS-GPS
We are excited to announce that starting in April 2026, the SDS Global Patient Survey (SDS-GPS) program (SDS Alliance's patient registry) will include a new set of Quality of Life surveys — called PROMIS surveys.
PROMIS stands for Patient-Reported Outcomes Measurement Information System. It is a scientifically validated measurement system developed by the National Institutes of Health, used in hundreds of clinical studies and rare disease registries worldwide. PROMIS surveys capture exactly the experiences that lab tests miss.
The domains we are measuring include:
Physical activities and movement
Energy and tiredness
How pain affects daily life
Thinking and memory
Worry and nervousness
Mood and feelings
Feeling connected to others
Confidence managing daily tasks and symptoms
Different survey sets are available for adults with SDS (self-report), parents of children ages 5–17 (parent proxy), and parents of young children ages 1–4 (early childhood parent report). Each set is tailored to the respondent and validated for that age group.
What Participating Looks Like
The PROMIS surveys will be available in SDS-GPS twice a year — in April and in October. This twice-yearly cadence lets us understand how your experiences change over time and with the seasons, which matters a great deal for a condition like Shwachman-Diamond Syndrome where infections, hospitalizations, and other events can significantly affect daily life.
Respondent Type | Duration | Frequency |
Adults (self-report, ages 18+) | 20–30 minutes | April & October |
Parents of children ages 5–17 | 10–20 minutes | April & October |
Parents of young children ages 1–4 | 5–10 minutes | April & October |
Surveys are available in
- English
- Spanish
- French
- German
- Italian
with additional languages planned for the future.
This is a unique opportunity for the global SDS community to come together — wherever you are in the world, your experience matters.
Before and after the PROMIS surveys, we'll ask a few brief contextual questions — for example, whether the past week was typical of the patient's usual health, and whether there were any significant medical events. This helps us interpret the data accurately.
How This Data Will Be Used
Every response helps build a picture of what living with Shwachman-Diamond Syndrome actually looks like — not just in the clinic. Specifically, this data will:
Inform clinical trial endpoint selection — inform the selection of endpoints for future SDS clinical trials — ensuring trials measure what matters to patients, not just what's easy to measure
Document the full burden of SDS — document the full burden of SDS across different ages, disease presentations, and over time
Enable comparison with other rare diseases — enable comparison with other rare disease populations using the same standardized measures — strengthening the case for SDS-specific research and resources
Identify unmet needs — identify unmet needs that are invisible to clinical measurement alone
This data will be shared with SDS researchers and, in aggregate and de-identified form, with the broader research community. It will not be shared with insurance companies or used for any commercial purpose.
How to Participate in SDS-GPS
Already enrolled in SDS-GPS? Simply log in at your regular survey time in April — the Quality of Life surveys will be included in your survey set. No additional enrollment is needed.
Not yet in SDS-GPS? We invite you to join. The SDS Global Patient Survey and Collaboration Program (SDS-GPS) is open to individuals with a confirmed Shwachman-Diamond Syndrome diagnosis and their families, anywhere in the world. Participation is free, voluntary, and entirely online.
A Note on Privacy and IRB Oversight
The addition of PROMIS surveys to SDS-GPS has been reviewed and approved by an independent Institutional Review Board (IRB), consistent with our existing SDS-GPS protocol. All data is stored securely, handled in accordance with applicable privacy laws, and used only for the research purposes described in our consent documents. Your participation is always voluntary, and you may withdraw at any time.
Every response moves us closer to our goal: clinical trials for Shwachman-Diamond Syndrome by 2030. The data you share today is what makes that possible.
Thank You
You are the reason this research is possible. The data you share — the experiences you take the time to describe — builds the evidence base that researchers and regulators need to take Shwachman-Diamond Syndrome seriously and invest in developing better treatments.
Lab tests tell part of the story. You tell the rest.
Stay connected to SDS research as it happens.
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