Shwachman
Diamond
Syndrome UK
Shwachman
Diamond Syndrome
is a rare genetic
disease
We are here to support UK patients and families affected by SDS.
There are approximately 60 known patients in the UK and we estimate there are 1,500-2,000 patients in US and Europe
Be there for someone with SDS
be a
Shwachman
Diamond
Syndrome
Fundraiser
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For Super Rare
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We are a small charity with big ambitions to help all those affected by SDS.
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our fundraising objectives.
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Join the Team
We’re always looking for committed members to join as
Trustees or co-opted members.
If you’re interested, we’d love to hear from you!
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- Poor digestion caused by pancreatic insufficiency (SDS is the 2nd most common cause of this after cystic fibrosis) which leads to excessive and fatty stools
- Reduced levels of fat soluble vitamins
- Haematological abnormalities and reduced immune system
- Skeletal abnormalities
- Developmental delay with potential psychological and social problems
- Increased risk of developing blood cancers such as myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML)
- Faltering growth / poor stature
- Dental problems
Our Mission is to support UK patients and families affected by SDS by:
SDS UK is a Registered Charity: 1164269
Shwachman
Diamond
Syndrome UK
We’ve all heard this before -so we’ve created a printable flyer with common symptoms to hand out to clinicians, schools, and the general public and a hospital Admission folder that you can have on hand with all your vital medical and consultant’s details.
Findings from Rare Voices: A National Report on the Experiences of those with Rare Conditions Affecting the Bone Marrow.
Information Pack for Parents & Patients (from our friends at SDS Foundation in the US)
Educational Psychology Information Leaflet from Great Ormond Street Hospital
Sixth International Congress on Shwachman-Diamond Syndrome
- Understanding Neurocognitive Functioning in SDS is the third section down
- SDS Skeletal Phenotype is the thirteenth section down.
Shwachman
Diamond
Syndrome UK
Fundraise and donate to Shwachman-Diamond Syndrome UK
Use our pre-designed poster
Don't forget to mention
us in your socials!!
Download our fundraising pack to maximise your efforts
Scan the QR code to donate through JustGiving checkout - 100% of donations go to SDSUK
Shwachman
Diamond
Syndrome UK
Read the latest community & charity news here
Summer 2023
Summer 2022
Introducing our F.A.B (Families Advisory Board!), community news and an note from our American friends.
An exciting issue - Cambridge hosted the 10th International Congress on SDS, The BTFHBM project and much more!
Shwachman
Diamond
Syndrome UK
SDSUK Events 2024
Super rare event takes place through February and March 2024
Join our Just giving campaign:
here
Building on the success of the family day 2023
We propose a ‘young adult’ SDS funday
- ages 16+ in April / May date TBC
and a family funday / bbq - summer 2024
It would be wonderful to see teams at the family day from SDSUK, BTFHBM, Clinicians and Psychologists
We have runners for SDSUK in The Great North Run and Bath Marathon this year!
The Better Together for Healthy Bone Marrow (BTFHBM) project consists of six rare bone marrow failure charities.
We are already seeing our community benefit from working together as part of a National Lottery Community Fund Grant funded project.
We can now offer Mindfulness courses, coping with stress and anxiety courses and access to benefits information.
Psychological help can also be accessed via our emotional wellbeing co-ordinators Becky and Heather.
Shwachman
Diamond
Syndrome UK
Bone
Marrow Donation
There may come a time when our loved ones with SDS need a bone marrow transplant and donors like you are vitally needed.
Here in the UK there are a number of ways you can donate bone marrow, each registry has slightly different criteria to meet but don't worry you only have to sign up to one and they will anonymously share information.
Heather’s DKMS swab
“I didn’t realise signing up to the bone marrow registry was as simple as taking a cheek swab! Watch my video below to see just how easy it is”
- aged between 17 (minimum age) – 55 (maximum age)
- in general good health
- Body Mass Index (BMI) under 40
- not already registered on another bone marrow registry
- UK resident at a permanent address for two years minimum
- haven’t recently requested a swab online from DKMS.
- male blood donors who are between 17 and 40 years old
- women who are aged between 17 and 40 and from black, Asian, minority ethnic or mixed (BAME) backgrounds
Shwachman
Diamond
Syndrome UK
Our medical advisers and UK SDS Clinics are essential to our progress and
understanding of SDS. They are all on hand to answer any questions you may have.
Medical Advisory board
Professor
Alan Warren
(Chair)
Dr Phil
Ancliff
Dr Jonathan
Kell
Dr Jutta
Köeglemeier
Dr Peter
Dale
Professor of Haematology
Cambridge University Hospitals
NHS Foundation Trust
MA MRCP MRCPath
Consultant in Paediatric Haematology
Clinical Director, Haematology
Cardiff and Vale University Health Board
Consultant Paediatric Gastroenterologist
Great Ormond Street Hospital for Children
Consultant Paediatrician
Gwent Healthcare, NHS Trust
Paediatric Referrals
Adult Referrals
Dr Jutta Köeglemeier
Phyllis Paterson
Prof. Alan Warren
Consultant Paediatric Gastroenterologist
Great Ormond Street Hospital for Children
Great Ormond Street
London WC1N 3JH
Tel: 020 7405 9200 Extension: 0114
jutta.koeglemeier@gosh.nhs.uk
Professor of Haematology
Cambridge University Hospitals
NHS Foundation Trust
Addenbrooke’s Hospital
Hills Road
Cambridge, CB2 0QQ
Clinical Nurse Specialist
(working with Professor Warren)
Tel: 01223 586771
Office and answerphone: 01223 596279
Direct line: 01223 245151 then Bleep 152 167
24 hour helpline: 01223 274225 phyllispaterson@nhs.net
Further Adult SDS Specialists
Dr Sally Killick
MB BS, MRCP, MD, MRCPath
Prof. Mary Frances McMullin
Dr Gavin Clunie
BSc MD FRCP
Consultant Haematologist
Royal Bournemouth Hospital
Tel: 01202 704790
jenny.dickens@nuffieldhealth.com
Professor of Clinical Haematology
Centre for Cancer Research and Cell Biology
Queen’s University, Belfast
Tel: 028 950 480 08
Consultant Rheumatologist and
Metabolic Bone Physician
Addenbrooke's Hospital
Cambridge University Hospitals NHS
Foundation Trust
Tel: 01223 517676
90% of patients have biallelic mutations in the SBDS gene (encoding a 250 amino acid protein)
SBDS protein is a gatekeeper performing quality control for ribosome formation
SBDS protein couples the final step in cytoplasmic maturation of the large (60S) ribosomal subunit to a quality control assessment of the structural and functional integrity of the nascent particle.
SBDS functions as a cofactor for elongation factor-like GTPase 1 (EFL1) in removing the anti-association factor eIF6 from the subunit joining face of the 60S ribosomal subunit
sds-chemical.jpg
Source: Warren, A.J., Molecular basis of the human ribosomopathy Shwachman Diamond syndrome, Advances in Biological Regulation (2017), http://dx.doi.org/10.1016/j.jbior.2017.09.002
Genetic structure
Useful papers:
- SDS 2018 Medical Congress - Congress Programme and Abstract Book
Shwachman
Diamond
Syndrome UK
Shwachman
Diamond
Syndrome UK
www.sdsuk.org
We would LOVE any feedback, thoughts, suggestions about the website or charity in general.
Please send an email to info@sdsuk.org and/or please fill out this short survey on how best we can support you.
SDS UK is a Registered Charity: 1164269