01709210151 / 07716135940 kerry.leeson@alstrom.org.uk

            

Address: 16 Royal Crescent, Cheltenham, GL50 3DA
Email: wolframfamilies@wellchild.org.uk
Telephone Number: 01242 548762
Website: www.wellchild.org.uk
Registered Charity Number: 289600
Prevalence of Wolfram Syndrome: 1 in 770,000

What is Wolfram Syndrome?
Wolfram Syndrome is a rare genetic condition that affects about 1 in 770,000 of the total UK population or 1 in 500,000 children, so it is very rare. A change in the WFS1 gene causes more than 90% of Wolfram Syndrome. This gene provides instructions for producing a protein called Wolframin. The change in the WFS1 gene leads to the production of a Wolframin protein that doesn’t work properly or at all. When the cells do not have enough functioning Wolframin, it causes abnormal cell function.

The syndrome causes a number of symptoms but not all of these symptoms are necessarily present in those diagnosed with Wolfram Syndrome and can vary in severity and onset.

Symptoms

  • Optic Atrophy essentially means that the optic nerve stops working. Symptoms can often present as difficulty seeing in the classroom at school – or everything going grey. There is currently no treatment for this. Vision problems may be improved with the use of glasses.
  • Diabetes Mellitus is the name given when the body cannot convert glucose or sugar to energy because the pancreas is not making enough of the insulin hormone. Symptoms include an enhanced thirst, frequent passing of urine and weight loss. Glucose is passed out in the urine and blood tests show a high level of glucose in the blood. It can be managed by insulin injections/insulin pump, blood glucose monitoring and healthy eating.
  • Diabetes Insipidus is the name given when the body cannot concentrate the urine because the posterior pituitary gland in the head is not making enough of the vasopressin hormone. Symptoms again include an enhanced thirst and frequent passing of urine. Urine tests show a very dilute urine. This can be treated by replacing the hormone with a nasal spray or tablets.
  • Deafness usually means difficulty in hearing in a crowded room, and difficulty hearing high pitched sounds. Some patients are helped with a hearing aid. In some cases cochlear implants can be a possibility.
  • Renal problems include loss of control over bladder function, so patients may wet the bed or have accidents. Some patients are helped by passing a tube or catheter, passed several times a day.
  • Neurological problems may occur; these may include loss of balance, sudden jerks of the muscles, depression and breathing problems. Some of these problems may respond to drugs.

A consultant paediatrician may only see one child with Wolfram Syndrome in a professional lifetime. There is a lack of local medical knowledge about the condition and how best to manage it. This often results in late diagnosis, a lack of standardised medical care, and can make school life and education difficult for affected children.

Clinical trials have recently started in the US and will start in early 2018 in the UK on two different drugs which have shown promising signs during laboratory research. It is hoped that one of both of them will slow down the progression of Wolfram Syndrome. A cure is still some way off.

What support is available?
In partnership with Birmingham Children’s Hospital and Wolfram Syndrome UK, WellChild’s Wolfram Syndrome Family Coordinator provides information, support, advocacy and advice to families across the UK caring for children and young people with this rare genetic condition.

An important part of this role is to connect with families and feed back their experience to the team who deliver the children’s Wolfram Syndrome clinics at Birmingham

Children’s Hospital. Through the Family Coordinator, families are able to influence how the clinic is delivered.

As part of supporting families, a regular newsletter with lots of information and news for families and adults affected by Wolfram Syndrome is available. There is also up-to-date information and research about Wolfram Syndrome on the WellChild website. This information is medically endorsed, so it’s the best place to start looking.

Information provided by WellChild, 4th December 2017

Breaking Down Barriers Project
WellChild joined the project part way through year 1 to learn from the experiences of others and to share their knowledge and experiences. After attending and presenting at workshop 2, they submitted an action plan for funding in year 2 of the project.

Year 2 Project

The project will be delivered by WellChild and will focus specifically on Wolfram Syndrome. The aim is to raise awareness of the condition throughout the UK, especially in areas where there are increased numbers of people from South Asian communities. Activities will include:

1, Develop accessible resources

2, Target Diabetes Departments and Visual Impairment Teams as these professionals are most likely to come into contact with a person with the condition

3, Work with interpreters to encourage families to attend specialised NHS clinics and have access to genetic counselling

4, Inform and support families to consider taking part in a new clinical trial

 

Skills

Posted on

January 4, 2017