Adam Smith is one of over 120 runners who will be taking on the 2018 London Marathon for Muscular Dystrophy UK. He tells us why he is once again taking on the incredible challenge and how he aims to break a world record in the process!

Why are you running the London Marathon for Muscular Dystrophy UK?

"I am running for MDUK because four members of my family have suffered from myotonic dystrophy: my brother (Doug), my mum (Janet), my uncle (John) and my cousin (Chris). Doug is now the only survivor. He is 48, wheelchair-bound and struggling with his arms and other functions. I have raised money for MDUK for a number of years now and have met a number of other people who’s family members are impacted by muscular dystrophy, and what really motivates me is the search for a cure and the funding to help disabled people with their everyday lives. When you realise that what happened to my brother could easily have happened to me (we both had a 50% chance of inheriting the disease from my mum), and how differently our lives have turned out, it really brings it home to you. Doing nothing was not an option for me!"

Can you tell us more about your World Record attempt?

"Hahaha! I have run as the Gnomerunner for a few years now, originally because we always go on holiday to Devon shortly before the London Marathon, and we always go to an odd but very charming Gnome Reserve.  The two things got inflated in my friends’ warped minds and they challenged me to run dressed as a gnome. Things have now got out of hand and I am going to run in a ridiculous “gnome on a toadstool” costume (for those over 40, think Bernie Clifton). The toadstool is pretty big, and weighs 2.5kg! I applied to Guinness World Records to set a new world record for a new category of “Fastest marathon dressed as a gnome on a toadstool (male)”, unfortunately this application was turned down, as it was a bit niche! I re-applied and was accepted for “Fastest marathon dressed as a mythical creature" instead.

How is your training and fundraising going in the lead up to the event?

"I am in the fortunate position that I have done a number of marathons before, so I am pretty confident that the training will be fine (aiming for about 4 hours).  No injuries so far, I just need to start ramping up the miles and lose the Christmas weight gain. Most of my fundraising tends to be donations from generous friends, family, colleagues and business contacts. Very little so far, but it always tends to be a little bit last minute for me. I have quite a few plans - a sweepstake for my finishing time, a swear box at work (always a winner), possibly a relay marathon for local kids in the village (great idea I have seen before, I will let you all know if this works), and a pub quiz. I often find it helps if you can persuade family and friends to take on a little of the fundraising burden - give them a target and let them get on with it; it helps to spread the load and reach different people."

If you have been inspired by Adam's story and would like to show your support, you can visit his Just giving page at the link below.

https://www.justgiving.com/fundraising/toadstool

Eleven year old Adam Sevenoaks, from Weymouth, has Duchenne muscular dystrophy, and plays powerchair football for the Wessex Warriors.

Adam needed a specialist Strike Force Powerchair to stay on top of his game, and compete on an even playing field with other players. The Joseph Patrick Trust was able to help with a grant towards the cost of Adam’s chair, and he’s now able to compete to the best of his ability in the South East Regional League.

Adam’s mum Mary told us about Adam’s love of powerchair football, and the difference his new chair has made to his game:

Adam has always loved football but due to his condition has never been able to play, until he found the Wessex Warriors Power Chair Football club.

 

The donation we received from the Joseph Patrick Trust was invaluable in helping raise the money for Adam to have his own Strike Force chair.

The chair has given him immense confidence in playing football and he loves it!

Playing sport can be great for physical and emotional wellbeing, and it’s great to hear what a great time Adam has playing Powerchair football! He was even able to meet AFC Bournemouth star, Tyrone Mings (pictured).

Interested in trying this fast, exciting sport out for yourself? Visit our Powerchair football page to find out how you can get involved with a Powerchair football club near you.

Last week NHS England data revealed that thousands of people were left waiting in ambulances to be seen by staff at A&E as hospitals struggled to manage demand for treatment.

Muscular Dystrophy UK is taking action to support paramedics to provide the best possible emergency care for people with neuromuscular conditions.

Our ‘Ambulance Action’ campaign aims to encourage ambulance trusts across the UK to set up a flagging system that alerts paramedics and first responders that the person they are treating has a neuromuscular condition and allows them to access individualised care plans before they arrive on the scene.

Muscular Dystrophy UK has already worked with the London Ambulance Service to set up a flagging system and by June 2018 we are aiming to ensure that similar systems have been introduced in as many as three more regions of the UK.

To reach this target we have written to ambulance trust Chief Executives across the UK to discuss how Muscular Dystrophy UK can support their services to improve emergency care for people with neuromuscular conditions. Currently, we have meetings arranged with representatives of three ambulance services and plan to meet with all trusts this year.

We will also be launching a report on this issue alongside ambulance and NHS services at a meeting of the All-Party Parliamentary Group for Muscular Dystrophy later in 2018.

As part of our campaign we have been speaking to people affected by muscle-wasting conditions to gather their experiences of emergency care, whose stories are shared below:

Suzanne Glover from County Down, Northern Ireland, has Spinal Muscular Atrophy (SMA) and reflects on her first experience of emergency care:

If it's possible to reflect on such a scary time of poor health as positive, my ambulance and emergency care was excellent. The paramedics took time to assess my current respiratory difficulties as well as take note of my chest infection history and SMA.

I carry an 'oxygen alert' with me at all times to make medical professionals aware that I should be supported with non-invasive ventilation as opposed to direct oxygen. This information was carefully taken on board and passed on to the Emergency Department before my arrival.

I feel that there is huge lack of awareness of SMA in Emergency Care. Without family being beside my bed explaining the condition and the normal course of treatment, I would have become ill a lot faster.

I would not fault the health care professionals in their ability listen and understand what my family explain to them. But in the ideal world, this information should be know already by first response professionals to quicken up the admission and treatment.

Wayne Lenson from Cornwall, who has Emery-Dreifuss muscular dystrophy, describes his extensive experience of emergency care:

I have been taken to hospital around 45ish times over the past 5 years by ambulance. The reason for this is that I experience severe chest pains caused by the tightening of my muscles in my chest.

Annoyingly they share many of the same symptoms as a heart attack which is why I have been taken into hospital with it so much. And the excruciating pain that goes with it of course.

My experience of the ambulance service has been extremely positive in terms of the care that I have received and the arrival time considering I live in a rural area.

Their general knowledge of muscle wasting conditions seems good however when I mention muscular dystrophy the only type they seem to really know about is Duchenne. Although they are usually very interested in the condition and are keen to gain information.

Update: Following a successful meeting with the South East Coast Ambulance Service this week we’re delighted to announce that we will be working with the trust and the Lane Fox Respiratory Unit at Guys and St Thomas’ NHS Foundation Trust to ensure their patients access best-practice emergency care.

Neuromuscular clinicians at Lane Fox will receive training to allow them to add patients’ care plans directly on to the South East Coast Ambulance Service’s flagging system. This will make it easier for clinicians to enable paramedics to access neuromuscular care plans before they arrive on the scene.

Following this initial pilot with Lane Fox, training will be provided to all specialist neuromuscular clinicians with patients in the South East Coast. This will ensure all patients who could benefit from being flagged to the ambulance service will be added to the system.

Muscular Dystrophy UK has also collaborated with a range of specialist health professionals to create condition-specific alert cards for different muscle-wasting conditions which allow patients and their families to easily inform paramedic teams of the vital and specific issues which affect their care.

Since the launch of these cards we have sent out over 12,000 to people living with muscle-wasting conditions and health professionals.

If you would like to share your experience of emergency care, or would like us to send you an alert card, then get in touch with campaigns@musculardystrophyuk.org.

Lung function data from some of Sarepta’s Exondys 51 trials has been published in the Journal of Neuromuscular Diseases.

The study showed that boys with Duchenne who were treated with Exondys 51 experienced a slower decline in lung function than would be expected. This suggests that the exon skipping drug helps to preserve function of the respiratory muscles. However, the study only included a small number of patients, so more research may be needed to confirm its results.

The study presents lung function data from the 12 boys who took part in the phase 2 201 trial and its follow-up 202 trial. This was collected over five years, over which time two participants lost the ability to walk (ambulation).

As there was no placebo control in the 201/202 trials, the lung function data was compared to that of an external natural history group. This consisted of 34 boys who took part in the United Dystrophinopathy Project and were of similar ages to the 201/202 participants.

Exondys 51 was granted accelerated approval by the FDA in September 2016. The FDA concluded that Exondys 51 could increase dystrophin production to a level that is reasonably likely to result in a clinical benefit. Sarepta is required to confirm this by conducting another clinical trial.

The European Medicines Agency (EMA) is currently evaluating Exondys 51. A decision on approval is expected in Q2 of 2018.

Further information

Read Sarepta's press release

Visit our Clinical Trials Information Service

Get the latest Duchenne research news