Wolfram Syndrome: Charity founder talks about the condition and why she set up the charity

Wolfram Syndrome is an ultra-rare condition.
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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).

Jennifer with the charity logoJennifer with the charity logo
Jennifer with the charity logo
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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.

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“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.

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“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.

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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.

Georgina Carolan, 25, was diagnosed aged 16 following two years of type 1 diabetes and other medical problems.

From the age of 14 she was underweight with an excessive thirst and excessive urination.

At this point she was drinking 12 litres of water a day and waking up six times a night to use the toilet, she then started to have problems with her vision.

She said: “By that point I already had my suspicions that something was underlying these conditions. Following internet research I came across Wolfram Syndrome, but I waited for the doctors to reach the diagnosis, hoping I was wrong. I was told I had it in July 2013.”

Following her diagnosis Georgina tried to push ahead with her AS levels, but the more medical issues that cropped up that she fell behind with school work and became depressed, and when she didn’t get the grades she stayed at school for an extra year and came away with two A Levels.

After a break working in retail she found out about the Open University and decided to enrol on a BSc in health studies, after five years she has just completed her degree and will get her results in October.

Georgina, said: “In the future I’m thinking of becoming a special education needs teaching assistant in a local school. To use my experiences in a positive way.”

Abby Gardner was diagnosed with diabetes mellitus aged four.

Abby, 22, has just completed a degree in psychology and is starting a postgraduate certificate in education to become a teacher.

When she was 14 she started to have problems with her sight, and this is when her diagnosis really hit her.

She said: “I was in all top sets at school, but I began to struggle with my class work and decided to focus on doing as well as I possibly could. This meant a lot of extra studying. While focusing on school I continued with dancing and scouts, which kept me busy.

“I also began to research Wolfram Syndrome and also attended the Birmingham Children’s Hospital for a Wolfram Syndrome clinic.

My first clinic was very scary as I had never met anyone else with Wolfram Syndrome.

“After this, clinics became something that I looked forward to as I could meet more people like me, who understood what I was going through. It was also a chance to catch up with people who have now become friends.”

Tracy’s charity Wolfram Syndrome UK is the only charity in this country for this syndrome.

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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.”

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