Pre-Meeting Community Survey
This survey was developed by the SDS Alliance to help the SDS community get familiar with the topics that will be discussed during the SDS PFDD meeting, to help refine the questions to meet the needs of the community, and to contribute insights for the meeting and the resulting Voice of the Patient Report. This survey is completely voluntary, anonymous, and has been approved by our IRB. Only patients and/or caregivers should fill out this survey. Only one per patient, please. For more information about the SDS PFDD meeting, visit www.sdsalliance.org/pfdd
Demographic questions
These questions are similar to the first set of polling questions at the PFDD meeting, and will help us get an overview of the make up of the community.
Are you a patient (person with SDS) or a caregiver (e.g., a parent to a patient)?
*
Patient (self)
Caregiver (e.g. parent to a patient)
Where do you currently reside?
*
US - Eastern time zone
US - Central time zone
US - Mountain time zone
US - Pacific time zone
US - Alaska or Hawaii time zone
Canada
Latin America
Europe and UK
Australia
Asia
Middle East
Other
What sex was assigned to the patient at birth?
*
Male
Female
Other
How old is the patient now?
*
0-4 years of age
5-9 years of age
10-17 years of age
18-35 years of age
36-55 years of age
56+ years of age or older
At what age did SDS symptoms first appear?
*
In utero (before birth)
Under 1 year of age
1-5 years
6-10 years
11-20 years
21-30
31-40
41-50
51 or older
At what age was the patient officially diagnosed with SDS?
*
Under 1 year of age
1-4 years of age
5-9 years of age
10-17 years of age
18-35 years of age
36-55 years of age
56+ years of age or older
How was the SDS diagnosis established?
*
Genetic testing confirmed the SDS diagnosis (SBDS or EFL1 gene)
Genetic testing confirmed an SDS-like diagnosis (SRP54 or DNAJC21)
Clinical observation - no genetic testing performed
Clinical observation - genetic testing was inconclusive or negative
Other
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This section will ask you about the SYMPTOMS and DAILY IMPACT of SDS.
These questions are similar to the topics discussed during the first half of the SDS PFDD meeting. Not all questions will be covered during the meeting and some may be modified.
For the patient, which organ systems are impacted by SDS? Select all that apply.
*
Overall stature (GROWTH)
ENDOCRINE SYSTEM (hormone-producing glands) and/or HORMONES
HEAD/FACE/NECK
EYES and/or VISION
EARS and/or HEARING
BRAIN and/or NERVOUS SYSTEM (neurological issues)
BEHAVIOR and/or PSYCHIATRIC issues
SKIN
BONES, CARTILAGE, and/or CONNECTIVE TISSUE
MUSCLES
HEART and/or BLOOD VESSELS
LUNGS and/or BREATHING
DIGESTIVE SYSTEM
KIDNEYS, BLADDER, and/or GENITALS
IMMUNE SYSTEM
BLOOD and/or BLEEDING
ORAL HEALTH
Which of the following SDS-related health concerns has the patient ever experienced? Select ALL that apply.
Pancreatic exocrine insufficiency (EPI)
Liver issues (such as elevated liver enzymes)
Digestive issues (other than pancreas or liver)
Feeding difficulties
Issues with blood sugar regulation or diabetes
Immune deficiency (frequent, unusual, or severe infections)
Neutropenia (low counts of neutrophils)
Anemia (needing red cell transfusion)
Low platelet counts (needing platelet transfusions)
The threat or fear of developing AML
Worrisome clones (such as somatic TP53 mutations) detected in the bone marrow or blood
MDS (myelodysplastic syndrome)
Leukemia
Small stature or slow growth
Knee or hip issues requiring surgery or orthopedic services
Breathing issues due to rib cage restrictions
Developmental delay, speech delay, or cognitive impacts
Mood and mental health issues
Eczema or other skin issues
Other
Select the TOP 3 most troublesome SDS-related health concerns that the patient has experienced. Select up to 3
Pancreatic exocrine insufficiency (EPI)
Liver issues (such as elevated liver enzymes)
Digestive issues (other than pancreas or liver)
Feeding difficulties
Issues with blood sugar regulation or diabetes
Immune deficiency (frequent, unusual, or severe infections)
Neutropenia (low counts of neutrophils)
Anemia (needing red cell transfusion)
Low platelet counts (needing platelet transfusions)
The threat or fear of developing AML
Worrisome clones (such as somatic TP53 mutations) detected in the bone marrow or blood
MDS (myelodysplastic syndrome)
Leukemia
Small stature or slow growth
Knee or hip issues requiring surgery or orthopedic services
Breathing issues due to rib cage restrictions
Developmental delay, speech delay, or cognitive impacts
Mood and mental health issues
Eczema or other skin issues
Other
Would you describe the patient’s SDS symptoms as currently well managed?
*
Yes
No
Mixed (some yes, some no)
How much does SDS impact the patient’s day-to-day life?
*
No Impact
1
2
3
4
Severe Impact
5
1 is No Impact, 5 is Severe Impact
In your own words, of all the SDS-related symptoms the patient experiences, which 1-3 symptoms have the most significant impact on their life, and in what way?
*
In your own words, are symptoms well managed or not well managed, and in what way?
*
What specific activities of daily life does the patient struggle with?
*
None
Daily chores in and outside of the house
Participating in sports and other recreational activities
Other hobbies
Driving a car
Socializing
Family relationships
Travel/vacationing
Maintaining personal hygiene
Attending to medical appointments and managing medical treatments
Attending school or having a job
Other
What specific activities of daily life would be MOST IMPORTANT TO THE PATIENT to see improvements in?
*
None
Daily chores in and outside of the house
Participating in sports and other recreational activities
Other hobbies
Driving a car
Socializing
Family relationships
Travel/vacationing
Maintaining personal hygiene
Attending to medical appointments and managing medical treatments
Attending school or having a job
Other
In your own words, are there specific activities that are important to the patient, but they cannot do at all or as fully as they would like because of SDS?
*
As it relates to SDS, what does a good day look like?
*
As it relates to SDS, what does a bad day look like?
*
How has SDS and its symptoms changed over time?
*
What worries you most about SDS’s impact in the future? Select the top three.
*
Lack of independence
Loss of social support
Becoming a burden to my family/friends
Stress of not knowing if/when leukemia may develop
Symptoms (other than leukemia) may get worse, or new symptoms may come up
Reduced life expectancy/shortened life
Other
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This section will ask about your perspective on CURRENT and FUTURE APPROACHES TO TREATMENTS for SDS.
These questions are similar to the topics discussed during the second half of the SDS PFDD meeting. Not all questions will be covered during the meeting and some may be modified.
What medications or medical treatments has the patient used to treat symptoms associated with SDS? Select ALL that apply.
*
None (No medications or medical treatments)
Pancreatic enzyme replacement therapy PERT (e.g., Creon, Zenpep, Viokace, etc.)
Fat-soluble vitamins (A, D, E, or K)
Lexatives/stool softeners (such as Mirlax)
Feeding tube
Blood/platelet transfusions
Granulocyte-colony stimulating factor (G-CSF) (e.g., Neupogen, Zarxio, Nivestym, etc.)
Immunoglobulin replacement therapy, like IVIG or SubQ IG
Prophylactic long-term use of antibiotics
Bone marrow transplant (stem cell transplant)
Growth hormone treatment
Orthopedic or other surgery
Medication for anxiety, depression, or ADHD
Participated in a clinical trial for an investigational drug
Other
Besides medications and treatments, what are you currently doing to help manage the symptoms of SDS? Select ALL that apply
*
None
Diet modification
Physical therapy/occupational therapy
Isolation and/or masking
Psychologist/counseling
Other
What is the patient currently doing to help monitor/detect risks or complications caused by SDS (i.e. issues that could happen in the future due to SDS)?
None (no routine surveillance)
Complete Blood Counts with Differential (CBC with Diff)
Bone Marrow Testing (aspirate and/or biopsy)
NGS Heme Panel or similar tests on peripheral blood to look for new, acquired somatic mutations (such as TP53) using Next Generation Sequencing (NGS) technology
Skeletal survey
Bone density scan
Neurocognitive evaluation
Growth/weight monitoring
Liver enzyme monitoring
Fibroscan to measure liver elasticity/fibrosis
Fat-soluble vitamin monitoring
Fecal Elastase Monitoring
Other
How well does the current treatment regimen control the patient’s symptoms OVERALL?
*
Not well
1
2
3
4
Very well
5
1 is Not well, 5 is Very well
How well does the patient’s current treatment regimen treat the MOST SIGNIFICANT SYMPTOMS of SDS?
*
How has the patient’s treatment regimen changed over time, and why?
*
How well have these treatments worked for the patient as the SDS symptoms have changed over time?
*
What are the most significant downsides to the current treatments, and how do they affect the patient’s daily life?
*
Which would you rank today as most important for a possible new therapy to address? Select up to TOP 3
*
Fewer or reduced severity of infections
Improvement of GI symptoms
Improved growth/reduction in bone issues
Reduction of fatigue
Improved cognition and independence
Reduction in leukemia risk
Improve transplant outcomes
Improvement of bone marrow function
Improved mood and mental health
Improvement in other symptoms
Other
Short of a complete cure, what specific things would you look for in an ideal treatment for SDS?
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What would you consider to be a meaningful improvement (for example, symptom improvements or functional improvements) in SDS symptoms or impacts that a treatment could provide?
*
Are there types of risks or adverse events that you would NOT be willing to tolerate?
*
Are there types of administration of treatments that would pose a bigger or smaller burden (e.g., oral pill vs injection)?
*
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Bonus Questions
These are not required, and are not part of the PFDD meeting or the Voice of the patient report, but will help us understand the community's needs and interests better, to serve you better.
What are your hopes for the "SDS PFDD meeting" and the resulting "Voice of the Patient Report" to achieve?
Is the patient currently participating in a patient registry or cohort study? Select all that apply
SDS-GPS (Global Patient Survey and Collaboration Program) - by the SDS Alliance
North American Shwachman-Diamond Syndrome Registry (SDS Registry) - based in Boston/Cincinnati, USA
Inherited Bone Marrow Failure Syndrome Study (IBMFS) at the National Institutes of Health (NIH) - based in Bethesda, MD, USA
SCNIR - Severe Chronic Neutropenia International Registry (US branch) - based in Boston, USA
SCNIR - Severe Chronic Neutropenia International Registry (European branch) - based in Germany
Aplastic Anaemia and other bone marrow failure syndromes Registry (AAR) - based in Australia
Canadian Inherited Marrow Failure Registry (CIMFR) - based in Canada
French Congenital Neutropenia Registry - based in France
Italian Registry for Shwachman-Diamond Syndrome (RI-SDS) - based in Italy
SDS Alliance Cell Biobank at the Coriell Institute NIGMS repository - based in NJ, USA
Other
What are your most important questions about SDS that you wish research would focus on?
How can patient advocacy groups (SDS nonprofits) best support you? What works, and what else would be helpful?
How can the healthcare provider community best support you? What works, and what else would be helpful?
Would you like to share anything else we have not asked about?
Submit
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