Coping with a genetic disorder: ‘Why I won’t let disease beat me’

Marilyn Silver talks to Alex Galbinski about how she took control of her life to cope with a rare genetic disorder.

Looking back over her life, Marilyn Silver can’t quite believe how much she pushed herself to do despite her illness.

Marilyn suffers from an extremely rare genetic disorder called Glycogen Storage Disease Type VII (there are 10 types) – only a handful of people in the UK have been diagnosed with it. It is more common in Ashkenazi Jews, but the exact incidence is not known.

Now 63, Marilyn (pictured) was around 11 when she realised things weren’t quite right. Her legs always ached and she’d have to stop often to rest whenever she walked.

“As a child, I was very slow. I found I couldn’t keep up with my friends when walking, especially uphill,” she says. “I remember when I was 18 going on a Matzah ramble with a boyfriend and he literally dragged me up a hill to where I could sit. All this was very embarrassing.

“I was also no good at sport. I never ran. I just struggled on – that’s just how it was.”

It was not until Marilyn was 32 that she was diagnosed with GSD VII, which is also known as Phosphofructokinase deficiency or Tarui’s disease, and for which there is no cure.

One night while suffering from flu, Marilyn was so weak she fell halfway out of bed and could barely move. Scared, her husband Laurence rang for an ambulance but in hospital the doctors initially had no idea what was wrong, or how to treat her. They gave her a massive dose of steroids, which enabled her to sit up, but she had no strength in her muscles. She had many tests, but was discharged without a formal diagnosis after two weeks, although for the first time she heard reference, in relation to her symptoms, to her being an Ashkenazi.

A few weeks later, Marilyn, who lives in Watford, was referred to the National Hospital for Neurology and Neurosurgery in Queen’s Square, London. There, she had numerous blood tests and a muscle biopsy and was finally diagnosed. At first, her life did not change, as she had to carry on running a busy home, looking after her two boys – then aged two and four – and later going back to her secretarial career.

“However,” she remembers, “I was always tired and in pain. At the end of the day, I would have to sit down for half an hour before I could even walk up the stairs.

“As there was no cure, I just carried on, not realising what damage I was doing to myself. I did much too much, but I didn’t want my family to suffer.”

The Hemel Hempstead synagogue member was advised that overdoing things could cause the body to react as if in shock. She recalls one particularly bad incident on her first day at a temporary job: “I walked up two flights of stairs and just about fell into a chair. I had to ring Laurence to come to get me and I literally crawled back down the stairs. I remember sitting on the couch shivering for the rest of the day.”

Marilyn’s specialist, Dr Ros Quinlivan of the Queen’s Square hospital, explains: “GSD Type VII is a very rare disorder – there are probably not much more than a handful of patients diagnosed in the UK. The condition is caused by the absence of an enzyme called phosphofructokinase, which is essential for skeletal muscle to burn glucose during exercise.

“The consequence is muscle fatigue, pain,  cramping and sometimes severe muscle damage, which leads to a Coca-Cola discolouration of the urine (myoglobinuria). Episodes of acute muscle damage can be very serious and require intensive care with kidney dialysis.”

The condition is caused by the inheritance of two abnormal copies of the PFKM gene, one from each parent. “In the Ashkenazi Jewish population, the number of individuals carrying this abnormal gene copy is much higher than the general population,” adds Quinlivan, although she says it is not clear why – presumably because of intermarriage. “Carriers do not have symptoms and discover that they carry the abnormal mutation only when they have an affected child”.

Marilyn, who had a kidney transplant in 2009 after her kidneys were found to be failing, started to take things easier after her referral to the Queen’s Square clinic. Following her diagnosis, her blood relatives were tested for the disorder, but thankfully no one was found to have it.

The grandmother-of-two describes herself as absolutely “frustrated” at her condition, which caused her to need a walking stick when she was only 50. “I have to think carefully before I do anything whether I am going to be in pain afterwards,” she says. “Even the simplest tasks like washing and drying my hair can cause me discomfort if I put too much pressure on my arms.”

She adds: “I used to say to my GP: ‘My body is my prison’. Now I don’t attempt to walk far or uphill and I refuse some invitations. The whole thing is very debilitating, especially when you look alright.”

Marilyn is now a co-ordinator for the GSD VII branch of self-help group for AGSD-UK – the Association for Glycogen Storage Diseases – and says people with similar symptoms should discuss them with their GPs.

Her current GP agrees, adding: “GSD Type VII is very rare, and the symptoms can be very non-specific. However, if you recognise the symptoms Marilyn had – particularly if you are from an Ashkenazi background – and where no other diagnosis has been reached despite baseline blood tests being done, it is worthwhile raising the potential diagnosis with your doctor. This is because most GPs are unlikely to consider the diagnosis or be aware of the specialist clinic at Queen’s Square.”

For her part, Marilyn wants to raise awareness of the disorder. “With this condition, you’ve got to go at an even keel. The minute you put your foot on the accelerator, that’s when you hit trouble. If anyone else is suffering from it, they shouldn’t suffer alone.”

• To find out more about GSD VII or the support group, visit this website or email Marilyn on gsdtype7@yahoo.co.uk
• More information on the disorder can be found here 
• Visit Jewish Genetic Disorders UK for more information on genetic conditions with particular relevance to people of Jewish ancestry