Wolfram Syndrome

Wolfram Syndrome is a rare genetic condition that affects about 1 in 770,000 of the total UK population – that’s about 100 people in the UK.

It can cause a variety of characteristics and symptoms such as:

  • Loss of vision called Optic Atrophy - the optic nerve stops working properly. Symptoms can often present as difficulty seeing in the classroom at school or everything going grey.
  • Diabetes Mellitus is the name given when the body cannot convert glucose or sugar to energy because the pancreas is not making enough insulin. Symptoms include an enhanced thirst, frequent passing of urine and weight loss.
  • 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.
  • Loss of hearing - deafness usually means difficulty in hearing in a crowded room, and difficulty hearing high pitched sounds.
  • Problems with the bladder such as loss of control over bladder function, so patients may wet the bed or have accidents.
  • Problems with the nervous system –  the brain, spinal cord and nerves. A loss of balance, jerking of the muscles, depression and difficulties with swallowing or choking can occur.

Not all of these symptoms can be seen in people with Wolfram Syndrome and each person with the condition is affected differently.

Children’s Clinics

A multidisciplinary clinic at Waterfall House is the only place in the UK that sees children and young people with a suspected or confirmed diagnosis of Wolfram Syndrome. Children and young people are invited to attend the clinic every 12-18 months.

The purpose of the clinic is to improve the quality of care for children and young people with Wolfram Syndrome and their related conditions and to ensure they reach adulthood in the best possible health. The clinic offers expert medical and emotional support for children affected by Wolfram Syndrome and their families.

Children and young people will have various tests and investigations during the clinic including:

  • A blood test
  • Height and weight measured
  • Urodynamics (which measures the rate of flow when passing urine)
  • MRI scan
  • Hearing tests
  • Eye tests

Whilst at the clinic children, young people and their families meet with a variety of professionals including:

  • Endocrinologist
  • Neurologist
  • Psychologist
  • Urologist
  • Ophthalmologist
  • Audiologist
  • Geneticist
  • Transition Coordinator
  • Family Liaison Coordinator

 

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