Subscribe
Busiest GPs in the Hastings, Bexhill, Rye and Battle areas: The surgeries with the most patients per GP, according to new NHS figures
Busiest GPs in the Worthing, Littlehampton, Shoreham and Lancing areas: The surgeries with the most patients per GP, according to new NHS figures
The genetic condition affects many of the body’s systems.
There are about 100 children and adults who have the condition in the UK.
It affects about one in 700,000 people worldwide. The hallmark features of Wolfram Syndrome are Type 1 diabetes (diabetes mellitus) and progressive vision loss due to the degeneration of the nerves that carry information from the eyes to the brain (optic atrophy).
Advertisement
People with WS often also have problems with their bladder (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, neurological or psychiatric disorders.
Tracy Lynch, from Worthing, is the chief executive and co-founder of Wolfram Syndrome UK.
She set up the charity 11 years ago to support those with the condition, this is at the same time her daughter Jennifer, then aged 8, was first diagnosed.
Tracy said: “The condition seems to have started when Jennifer was about two and a half years old with coughing attacks, followed by vision issues diagnosed when she was five.
Advertisement
“At the age of six she was diagnosed with Type 1 diabetes and a neurogenic bladder. At the age of ten she had the second of two severe choking attacks in a year which resulted in being on a ventilator for three weeks and then a ‘temporary’ tracheostomy being carried out.”
Eight years later the tracheostomy is still in place. At the age of 12 she was diagnosed with Scoliosis and over the last three years she has developed short term memory loss with her balance deteriorating so much that a wheelchair is sometimes.
Tracy added: “Around the age of six she had the first of several sleep studies that showed she had Central Obstructive sleep apnoea. She would de-saturate for up to 13 seconds a time up to 20 times in an hour, but never requiring any medical intervention. We have been told she has an extreme form of WS as everything has happened within the first ten years of her life.”
Tracy explains that Jennifer has never had a normal childhood, as when she wasn’t in school she would be in hospital.
Advertisement
“Unlike her peers she can’t go out and get a part time job; drive a car; go out to a bar.”
As part of her treatment Jennifer has five insulin injections a day, at least three tablets a day, one twice a day and is now on a ventilator at night along with any additional medications as required.
Diabetes mellitus is typically the first symptom of Wolfram Syndrome, usually diagnosed around the age of six.
Nearly everyone with Wolfram Syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy, problems with their vision, is often the next symptom to appear, usually around the age of 11. The first signs of this are loss of colour vision and side vision. Over time the vision problems get worse and people with optic atrophy are usually blind within approximately eight years after signs first begin.
Advertisement
In diabetes insipidus, the pituitary gland which is located at the base of the brain doesn’t function properly. This abnormality disrupts the release of a hormone which helps to control the body’s water balance and urine production. Approximately 70 per cent of people with WS have diabetes insipidus.
About 65 per cent of sufferers have some form of deafness which can range in severity from deafness beginning at birth to mild hearing loss that begins during adolescence and then worsens over time.
While 60 to 90 per cent have some form of urinary tract problem which can include such things as a dysfunctional bladder, incontinence etc.
Advertisement
Advertisement
Advertisement
Advertisement
Tracy’s charity Wolfram Syndrome UK is the only charity in this country for this syndrome.
It works with WellChild, a national charity for sick children, it has helped them to fund research to identify a drug that could halt or slow down the progression of WS.
Tracy said: “There will never be a cure, but the aim of WSUK is to help provide support for those affected and their families, raise awareness amongst the medical profession to ensure children get diagnosed sooner.”
Advertisement
It also aims to be able to help provide financial support for any travel to the dedicated annual WS clinics, conference, respite support and for any specialised equipment that may be required to help make life easier for the person affected. The charity sends out a quarterly newsletter to the families and sufferers to keep them informed of what is going, has a dedicated phone line and forum for people to ask for advice or just chat.
Tracey said: “The hardest part of the condition for those affected is the loss of vision and is what every person with WS would like to see ‘cured’ first. Other parts of the syndrome can be dealt with by medication but vision loss is the hardest thing; no longer being able to do things easily for yourself when once you could is tough on everyone. As a parent watching your child’s health and their condition deteriorate is really tough.”
To find out more information or to donate, visit www.wolframsyndrome.co.uk/funds.html
Advertisement
Did you know with a Digital Subscription to SussexWorld, you can get unlimited access to the website including our premium content, as well as benefiting from fewer ads, loyalty rewards and much more.
Subscribe
Did you know with a Digital Subscription to SussexWorld, you can get unlimited access to the website including our premium content, as well as benefiting from fewer ads, loyalty rewards and much more.