Wolfram syndrome – our journey

Wolfram syndrome (WS) is an ultra-rare condition. About 90 people in the UK are affected. Many doctors have and never will see a person with WS.

How it began

My daughter was diagnosed with WS at the age of 8 following 3 years of investigations. The condition seems to have started when Jennifer was about 2.5 years old with coughing attacks, followed by vision issues diagnosed when she was 5. At the age of 6 she was diagnosed with Type 1 diabetes and a neurogenic bladder. At the age of 10 she had the second of 2 severe choking attacks in a year which resulted in being on a ventilator for 3 weeks & then a ‘temporary’ tracheostomy being carried out. 8 years later this is still in place. At the age of 12 she was diagnosed with Scoliosis and over the last 3 years she has developed short term memory loss with her balance deteriorating so much that a wheelchair is sometimes.

Around the age of 6 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 10 years of her life.

Since 2007, the beginning of our journey, we have seen almost every department in the hospital.

Daily life

Jennifer never had a normal childhood as time was spent out of school at hospital and invites to friend’s houses and parties stopped from the age of 6. Unlike her peers she can’t go out and get a part time job; drive a car; go out to a bar.  

Over the years she has received the necessary treatment and medication for the different parts of the condition she is affected by. She has 5 insulin injections a day, at least 3 tablets a day, one twice a day, and is now also on a ventilator at night along with any additional medications as required. In 2016 she was admitted to hospital 7 times with either an upper respiratory tract infection or Pneumonia. This is when the ventilator was first introduced and was used when required. In 2017 this became a permanent part of night time with a prophylactic preventative antibiotic prescribed for over the winter months. So far this has helped. Jennifer is seen at the annual WS MDT Clinic in Birmingham and then has other medical appointments though out the year at our local hospital and hospitals in London, about 60 miles away.

Since 2007, the beginning of our journey, we have seen almost every department in the hospital.

The future

We know that a ‘sticking plaster’ treatment is being trialed to slow down or halt the progression but we need more researchers working together, sharing information to find an actual cure. The ‘sticking plaster’ gives those affected and their families hope that they might live longer than the expected average age of 30-40 years. 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.

As a parent I ask those working on this condition to listen to those affected. They are the ones living with the condition day in and day out. They know how they’re feeling and what they are having to cope with. Don’t just dismiss a symptom. See if anyone else is reporting the same, as there will be. Work with patient groups. They want to see success just as much as you. We’re continuously teaching Doctors when we attend appointments or get admitted to hospital. Even the specialists at our MDT clinics are learning from us each time we attend.