Raising the profile of Kennedy’s disease

Did you know the MND Association also supports people who have Kennedy’s disease?

In May a new clinic specialising in Kennedy’s disease opened in London at the National Hospital for Neurology and Neurosurgery.

To mark this big step in helping support and treat people with Kennedy’s disease, Katy Styles who campaigns on behalf of the Association, and whose husband Mark has Kennedy’s disease, thought it would be a great opportunity to raise awareness of this rare condition.

Katy and Mark Styles
Katy and Mark Styles

There is very low awareness of this disease amongst neurologists, healthcare professionals, the general public and within the Association itself. We do all we can to explain to everybody what Kennedy’s disease is and what it’s like to live with.

Due to the rarity of Kennedy’s disease you can feel very much alone. It is so great to be part of the MND family and the Association is key to this by making us feel part of a wider community.”

What is Kennedy’s disease?

Kennedy’s disease is a condition similar to motor neurone disease (MND) which affects motor neurones. It is sometimes called spinal and bulbar muscular atrophy (SBMA).

It is a hereditary condition which develops mostly in men, though women can have mild symptoms and be carriers of the faulty gene. It is a rare condition, with symptoms most commonly developing in men between the ages of 40-50.

Mark Styles, who was diagnosed with Kennedy’s disease in 2010, told us about how he was diagnosed:

Whilst the neurologist knew immediately it wasn’t MND, he felt it was a familial form of a neurological disease so he sent us off to find out about my wider family. Subsequent family research provided evidence that it was Kennedy’s Disease. A simple blood test confirmed it.”

Symptoms include muscle cramps and weakness leading to muscle wasting, fatigue, twitching and nerve tremors and speech and swallowing difficulties.

Like MND there is currently no cure for Kennedy’s disease, though people with the condition can expect to live for many years.

More information on Kennedy’s disease, how it is passed on down the generations, and the help you can get with managing symptoms can be found in the Care Information sheet 2B that the Association produces.

National Clinic

The national clinic for Kennedy’s disease is part of the MRC Centre for Neuromuscular Disease. You can ask your GP or consultant neurologist to refer you to the clinic.

Dr Pietro Fratta is a doctor at the new clinic, and also happens to be one of the Lady Wolfson Clinical Science Fellows that we are funding.

Dr Pietro Fratta (University College London)

Dr Pietro Fratta, University College London

Dr Fratta told us more about what will happen at the clinic and why it was set up.

“The full clinical picture of how Kennedy’s disease originates and progresses is still being established and having a single centre dedicated to Kennedy’s disease for people to attend will help increase our knowledge of this condition. This will allow us to better address and monitor all aspects of the disease in a comprehensive way.

“At the clinic you will see both a consultant neurologist and a specialist nurse, and will undergo detailed muscle strength testing, heart testing and have blood tests to monitor non-neurological aspects of the disease.

“We will discuss with you how Kennedy’s disease affects your quality of life and daily living, and you may also be offered the possibility of participating in research studies.”

Mark and Katy Styles gave their thoughts on the new clinic.

The clinic is a massive step forward. It means there is finally formal recognition that people living with Kennedy’s disease warrant specialist care and study. We cannot wait to be involved.”

For more information on the clinic email sbma@ucl.ac.uk or p.fratta@ucl.ac.uk.

Research into Kennedy’s disease

Information about the research into Kennedy’s disease being conducted at the Institute of Neurology, University College London can be found here.

Dr Fratta explained the research into Kennedy’s disease he is currently involved with.

Our current research goal is to identify disease progression markers that can make future therapy trials more sensitive in detecting treatments that are potentially beneficial. This will be done using muscle MRI scanning and screening blood samples for ‘biomarkers’ of the disease.”

They are now recruiting people with Kennedy’s disease for the above research study. For more information on this please contact the clinic or Dr Fratta directly.

Dr Fratta and Prof Mike Hanna have also set up a national register for Kennedy’s disease. You can sign up to the national register by emailing sbma@ucl.ac.uk or Dr Fratta on p.fratta@ucl.ac.uk.

Being on the register will allow people with Kennedy’s disease to be contacted about possibly taking part in studies and drugs trials, such as the project mentioned above.

Want to know more about Kennedy’s disease or the support available to you?

If you want to know more about how we support people with Kennedy’s disease you can phone MND Connect on 03457 626262 or email them at mndconnect@mndassociation.org.

Kennedy’s Disease UK is the first and only UK registered charity specific to this condition, and is run by volunteers. If you would like to know more about their work please visit their website.

3 thoughts on “Raising the profile of Kennedy’s disease

  1. As a long-standing KD sufferer, I made my first visit to the clinic about three weeks ago. So impressed by Dr Fratta and his outstanding team and so delighted to see Kennedy’s finally getting properly recognised. Thank you to all who have campaigned for so long.

  2. This is great news for sufferers in the UK. When listing symptoms however, it is important to note that there is also mitochondrial dysfunction related to KD. Even when nerves and muscles are still firing properly, there can be relentless fatigue. Learning how to balance life and energy, what you can do versus what you can sustain, is much easier when it is explained that it is not ‘just’ muscle cells and neurons that are deteriorating but the energy component is failing as well. Understanding this can lead to better choices and better living with KD.

  3. Pingback: Raising the profile of Kennedy’s disease | MNDA-East Kent

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