What is Wolfram Syndrome Wolfram Syndrome is a rare genetic condition affecting around 1 in 77000 people in the UK This condition is also known as DIDMOAD syndrome an acronym composed of diabetes ID: 916221
Download Presentation The PPT/PDF document "Jody Blake Wolfram Syndrome Family Coor..." is the property of its rightful owner. Permission is granted to download and print the materials on this web site for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.
Slide1
Jody Blake
Wolfram Syndrome Family Coordinator
Slide2What is Wolfram Syndrome?
Wolfram Syndrome is a rare genetic condition affecting around 1 in 770,00 people in the UK.
This condition is also known as DIDMOAD syndrome, an acronym composed of diabetes
insipidus
(DI), diabetes mellitus (DM), optic atrophy (OA) and deafness (D).
The disease is caused by mutations in a gene, WFS1, which encodes a protein, Wolframin.Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with this recessive genetic disorder.Affected people commonly have diabetes mellitus and progressive optic atrophy - typically these will have appeared by 14-15 years of age.It is not an easy condition to diagnose. Many individuals have had it for years before an accurate diagnosis of Wolfram Syndrome is confirmed.
Slide3Slide4Objectives of WS Family Coordinator..
Encourage attendance and assistance at clinics
Provide feedback and recommendations
Help with transition processFacilitate parent to parent linkingProvide information, support, advice to families outside clinics
Slide5WellChild
Post is funded by NHS England (since 2012) and compliments the national clinical service that NHS England commissions. Previous post holder left in January 2017.
WellChild
funded early research looking at ER stress in Wolfram syndrome for 2008 onwards.
WellChild’s
Head Office in Cheltenham provides a good base in which to support families attending the clinic at BCH and those transitioning to QEHB. Post works closely with Wolfram Syndrome UK Support Group.
Slide6Wolfram Syndrome Multidisciplinary clinics
Specialist Children and Adult clinics run at Birmingham Children’s Hospital and Queen Elizabeth Hospital, Birmingham.
Children’s clinic:
For any child or young person with a confirmed or suspected diagnosis of WS.
Clinic held four times a year and runs over two full days.
Six children and young people are seen at clinicChildren and young people are seen every 12-18 monthsWill be run at new Rare Disease Centre from 2018.All new referrals receive a home visit prior to clinic.
Slide7My role at clinic
Liaise with families before, during and after clinic.
Arrange all accommodation for families (each stay 2 nights). Meet them the evening before clinic.
Support them at clinic
Ensure that all of their needs are met – can include arranging for them to see additional clinicians or having an interpreter.
Accompany them to claim back their travel expenses if appropriate. Encourage them to fill our clinic survey and then analyse and provide feedback to team at BCH.
Slide8Clinic
feedback report
Slide9Best parts of clinic…
Slide10Worst parts of clinic…
Slide11Acting on feedback from families…
“Long waiting times in ophthalmology” Appt split into two, appointment in the CRF
“Blood tests distressing” Play specialist at every clinic
“Waiting area not private/noisy” Seminar room booked for each clinic
“MRI worst part of clinic Play Specialist prepares children
“Clinics are boring” Arts and crafts provided
“Access to a cup of tea!”
Self serve hot & cold drinks provided
throughout the day
Slide12Why are the clinics so important to families?...
“Having all the doctors who are experts in one place”
“Seeing the same specialists year after year”
“it’s great chatting to other parents”
“..we have a much better understanding of the condition...”
A chance for families to get together
Advice and medical care from experts
Consistency of care
Better knowledge of Wolfram Syndrome
Slide13Wolfram Syndrome Clinical trials
3 year clinical trial of a treatment to slow
disease progression
Existing drug repurposed – testing
sodium
valproate (currently licensed to treat epilepsy)
Slide14120 children and adults will be recruited (in UK and parts of Europe)
2:1
Randomised
trial
6 monthly checkups at BCH: - safety checks - blood tests
- eye tests - MRI brain scans.
Slide15Development of role…
Clinical trials starting later in early 2018 will impact on role
increased contact with families.
Further development of resources – transition information and information for schools supporting pupils with Wolfram Syndrome
Further development of Wolfram Section of
WellChild website – emphasis on information for children and YP. WS Conference October 2017 (with WSUK)Development of quarterly e-newsletters Working with other rare disease groupsBreaking down Barriers project
Slide16Any questions?
Slide17