Jody Blake Wolfram Syndrome Family Coordinator

What 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.

Objectives of WS Family Coordinator.. Encourage attendance and assistance at clinics Provide feedback and recommendations Help with transition process Facilitate parent to parent linking Provide information, support, advice to families outside clinics

WellChild 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.

Wolfram 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 clinic Children and young people are seen every 12-18 months Will be run at new Rare Disease Centre from 2018. All new referrals receive a home visit prior to clinic. Adult clinic – I will start supporting young people who transition across to the QEHB by being at their first and possibly second appointments.

My 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.

Clinic feedback report

Best parts of clinic…

Worst parts of clinic…

Acting 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

Why are the clinics so important to families?... “it’s great chatting to other parents” A chance for families to get together Consistency of care “Seeing the same specialists year after year” Better knowledge of Wolfram Syndrome “..we have a much better understanding of the condition...” Advice and medical care from experts “Having all the doctors who are experts in one place”

Wolfram 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)

120 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.

Development 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 groups Breaking down Barriers project

Any questions?