Spaceathlon

This article first appeared in the Information Point newsletter in 2016 when Toni Abram who is diagnosed with dominant centronuclear myopathy wrote about taking part in a Spaceathlon Challenge to raise funds for the Neuromuscular Centre, where she attends for physiotheraphy treatment with her father Mike.

Toni and Mike

During May my dad and I took part in a Spaceathlon Challenge to raise funds for the Neuromuscular Centre (NMC) in Cheshire, where we both attend for physiotherapy treatment. The NMC is a national Centre of Excellence for adults with muscular dystrophy, providing ongoing, specialist physiotherapy, employment and training, advice and support to 1,000 individuals (and their friends, families, and carers) affected by neuromuscular conditions.

The centre is also a charity and 60% of the running costs of the centre come from fundraising but its services are free for its service users, many of whom travel from across the country and further afield to access the knowledge and expertise available.

Neuromuscular conditions affect over 70,000 individuals in the UK and range in severity, onset and presentation. Some conditions are diagnosed at birth, while others do not become apparent until later in life, as was the case with dad and me. However, all conditions present challenges and affect independence, mobility and quality of life and all share one unifying feature, muscle weakness, which is often progressive and can lead to changes in the ability to walk, climb stairs, washing and dressing. Individuals affected by neuromuscular conditions are often less mobile, less able to access active exercise and therefore more at risk of secondary health problems in the future.

You can learn more about the NMC and neuromuscular conditions in the short film below.

Toni and Mike

Dad and I began attending the NMC shortly after getting our diagnosis of centronuclear myopathy and are incredibly fortunate that it is almost on our doorstep. Finding the NMC was a godsend, for on getting our diagnosis, we were told there were very few others in the world with the illness, that there was no treatment and that no long term prognosis could be provided. In addition no counselling was given to help us come to terms with what our futures held and to enable us to deal with our diagnosis emotionally.

For a while previously, I had attended a physiotherapy clinic at my local hospital – the physio who was not trained to understand muscle diseases would spend considerable time twisting and moulding my body and placing my feet and arms in a particular way, only for me to immediately ‘flop’ the moment she left me to stand alone because my muscles are simply not strong enough and therefore totally resisted this regularly prescribed type of physio treatment. Attending for physio at the NMC however is a different matter entirely. My treatment is designed for me and rather than trying to make my body work normally or trying to cure me, the focus is on maintaining the movement and flexibility that I currently have for as long as possible. My physio’s understand muscle disease and always take the time to ask about recurring problems or whether there are any new issues since my last visit and are able to offer a number of ‘on site’ solutions for regular or one off aches and pains, such as an infra red heat lamp, ultrasound and ‘wellies’ which help with circulation problems.

Attending the centre has also connected my father and I to others with muscle diseases and although they have different conditions to us (there are 60 to 70 types of MD), they understand what we are going through, as we all experience similar physical problems. The NMC also provides other types of support, for instance they were able to advise me on an Access to Work scheme and provide me with a letter of support to give to my employer and I know that should I require any other assistance in the future, they would be there for me.

Without the NMC my father and I would still be living with the knowledge that we have a chronic health condition but feeling very isolated and not knowing where to turn for help and support and although we are both aware that our condition is progressing and that there is no cure for us, attending the NMC has enabled us to re-gain some control in the battle against our disease. We are grateful to have found a sort of home inside the walls of the NMC and taking part in the Spaceathlon, is an opportunity for dad and I to give something back by taking part in a fundraising activity for the centre. Also to raise awareness of the work of the centre and the benefits of exercise for people with muscle conditions, as well as improving our own fitness.

The challenge

Inspired by British Astronaut Tim Peake, the effects of zero gravity during space flights which cause astronauts to experience loss of muscle tissue and bone density and the Space to Earth Challenge set by Tim to get fit with him, the aim of the Spaceathlon is simple, to encourage the whole NMC community to contribute to a cumulative distance of 460km (the maximum distance between the earth and the ISS) by taking part in physical activities and to raise funds for the centre in the process. Based on a triathlon, participants could walk using a cross trainer, cycle using pedals or assisted arm pedals, swim in the hydro pool or row using the rowing machine.

Research indicates that exercise (at an appropriate intensity and frequency) is beneficial for individuals with muscle conditions, not only in providing a stimulus to maintain muscle strength but also improving whole body fitness and reducing soft tissue tightness and pain. So the NMC has asked their clients to think about their own levels of activity and to set themselves a challenge. This could take the form of a specific time or distance or simply doing a little more active exercise than usual (as is the case with dad and I), with some clients aiming to cover a half marathon distance on the centres bespoke, wheelchair accessible arm and leg pedals, swimming the length of the ISS in the hydrotherapy pool or rowing to the stratosphere. While some are incorporating three elements to their Spaceathlon challenge, linking it with the triathlon theme.

The science bit

So how does Tim Peake and the Space to Earth Challenge relate to neuromuscular conditions? The progressive nature of muscle conditions is similar to observations made of astronauts in space. After five months in orbit above the earth an astronaut would typically lose as much as 40% of muscle and 12% of bone mass. Therefore astronauts have to undergo daily rigorous exercise to try to help counteract the loss of bone and muscle fibre, together with other risks such as shrinking legs due to fluid redistribution, deterioration of weight baring bonus and muscles and forgetting how to walk, that come with living in microgravity. And just like like an astronaut, if people with neuromuscular conditions don’t exercise, their muscles will waste away faster still, so some physical activity, despite what people might think, is really important. It is not at all easy but helps with cardiorespiratory fitness, energy efficiency, weight management and muscle performance – exercising muscles maintains flexibility, length and strength and helps maintain better function for longer.

Similar to a thermostat that only maintains a temperature when it is needed, bodies only maintain or build muscle when muscles are used repeatly. This is why body builders are able to gain muscle bulk by repeated weight lifting and also the reason why astronauts need to do so much exercise when in space – where the lack of gravity reduces the stimulation the body would normally receive from physical activity, taking away muscle tissue and bone it believes to be unnecessary. This mechanism is reproduced in neuromuscular conditions, where reduced activity and reliance upon powered mobility aids such as wheelchairs, leads to a reduction in muscle mass.

And finally

35 participants took part in the Spaceathlon raising around £4,000. The Space Crew covered the 460km to the International Space Station and made it back to earth too, a total of 920km but the actual total reached was 1,000+ km and all this without adding on the distances covered by people who did their challenge outside of the centre (which included three triathlons, 1,000 lengths of swimming and walking.

Donate and get involved

If after reading this, you would like to make a donation or get involved with the work of the centre, you can do so below.

* Make a donation
* Get involved

Further information

* Exercising with a muscle condition
* What happens to muscles in space
* Space to Earth Challenge

  space-flyer-2

Spaceathlon flyer  space-flyer-3

A weekend to remember

This article first appeared in a 2015 issue issue of the The Information Point newsletter Our World, when Daniele Oliveri told the Information Point about an informal Italian MTM meeting that took place in Italy over the weekend of 14 and 15 November 2015.

Following the example of many CNM/MTM families all over the world three Italian families recently decided to meet each other – Alessandro Lollobrigida, his wife Claudia and their fantastic baby Mare, Ivan Tonini, his wife Chiara Deli and their amazing guy Mattia and me, my wife Marta and our handsome Francesco spent a whole weekend in Florence.

After the birth of our sons we understood that alone we lose, instead together we win, we are stronger. We are few, but it is only the beginning. At the moment we are four families but one of those was unable to attend the meeting. The community is really strong and each of us can take something from the community – experiences, advice, support. Being a part of a community allows us to feel less alone in the fight against this disease. Furthermore as a community we can look towards the world as a group and not as individual families.

Based on our experience we urge all CNM/MTM families all over the world to search for other families and gather in group. During this weekend we felt at ease. We shared the same problems, the same fears and the same experiences. It was fun to walk the streets of Florence together with ventilators, suction machines and oximeters.

We agreed to meet each other again very soon in order to spend more time together and in order to start creating an Italian CNM/MTM organisation, with the main purpose to raise funds and help research.

Special thanks to Holger Fischer, his wife Jennifer and their incredible son Emil for the inspiration.

 

Myo the traveling turtle

This article first appeared in a 2015 issue issue of the The Information Point newsletter Our World, when the the MTM-CNM Family Connection told us about Myo the Traveling Turtle.

Myo the Traveling Turtle at the MTM-CNM Family Conference.

Myo the Traveling Turtle was hatched at the 2015 MTM-CNM US Family Conference. Myo’s mission is to travel the world, visiting members of the centronuclear and myotubular myopathy community, to help us all stay connected.

The turtle is one of the oldest living animals walking the earth today. The oldest fossils of turtles are dated at over 200 million years old, so Myo is a symbol of longevity, endurance, persistence and the continuation of life (sometimes against incredible odds).

Earlier this year, the MTM-CNM Family Connection asked the CNM/MTM community to choose from a list of potential names and the name Myo was chosen – as in the word myopathy, which is derived from the Greek language, with ‘myo’ meaning muscle and ‘pathy’ meaning disease. Together the words mean muscle disease. Coincidentally, the shape of a turtle is used as a mnemonic (a learning technique that aids information retention in the human memory by translating information into a form that the brain can retain better), for the structure of the biochemical compound myoinositol, which is part of the PI(3)P lipids that play an important role in the structure of the cell membrane and signaling of muscle contraction.

Myo at Wrigley Field with the Bushey family.

Since the family conference, Myo has been on a whirlwind adventure visiting members of the CNM/MTM community where they live and raising awareness of CNM/MTM. Before leaving Chicago, Myo attended a Cubs game at Wrigley Field with the Bushey family, then traveled to Massachusetts to watch a Red Sox game at Fenway Park with the Ward family. In September Myo attended the Global Genes RARE Patient Advocacy Summit at Huntington Beach and also visited the Manny family in Rancho Cucamonga, both in California, before heading on to San Francisco to see the work being done by the biotechnology company Audentes Therapeutics, who are developing a gene therapy treatment for X-Linked myotubular myopathy – Myo also got to see the paintings that hang in the office painted by Andy Villon who has MTM.

A ten hour flight from California saw Myo attend the 20th International Congress of the World Muscle Society with many experts in neuromuscular disease and he also got to go sightseeing around Brighton. Back home in the US Myo visited the offices of Google, Facebook and LinkedIn, before traveling to see the Wood family in New York, where he visited the Bronx zoo and Botanical Gardens, visited the heart of the Red Apple, took a trip on a ferry to see the Statue of Liberty and attended Reid Wood’s Teenage Mutant Ninja Turtle-themed birthday party.

Further information

Where will Myo show up next? To keep up to date with Myo’s travels and see where he goes next, visit the MTM-CNM Family Connection website or Myo’s Facebook page.

* MTM-CNM Family Connection website
* Myo the turtle on Facebook

If you would like Myo to visit you email info@mtm-cnm.org.

 

Bank of England Charity of the Year

In 2016 The Myotubular Trust was chosen to be one of the Bank of England’s charities of the year. Ed Kemp told The Information Point about the three year mission that finally became a reality.

The Bank of England’s Charities of The Year scheme has been running for many years and I first found out about the scheme just a few weeks into my new job at the Bank. The timing of this encounter seemed to be too good to be true as I had started working for the Bank in the same week that my son Matthew had come out of hospital, after three of our most darkest months – with a traumatic birth, ending up in NICU with doctors not knowing what was wrong and countless days/meetings asking us to prepare for the worst.

To be honest, I saw the scheme as a perfect way for me to focus on something positive at work, after the months we’d just had, as well as a huge opportunity for me to help raise some money in the hope that other families won’t have to go through what we went through in the future. It would also be a great way of increasing understanding amongst my colleagues of this rare condition.

The mission had begun to get Myotubular Trust on the map at the Bank of England. So that year, I registered the vote for the Myotubular Trust. Unfortunately, I didn’t fully understand the process and wasn’t successful that year. This only made me more determined the next year. I began canvassing across the Bank with colleagues and people I’d worked with and I felt confident that this was the Trust’s year. The results came out and …… I’d been beaten again. This time though, it was an improvement as I’d gained enough votes to come in fourth – a very respectable result up against the other larger, more well known charities.

Something had to change, as every year the smaller charities were up against these bigger charities. I had to find a way to reach out to as many people as possible. So during the year leading up to the vote, I set about logging a note of all the people I met and worked with ready for a canvassing blitz come September.

There was only one small problem. During these first two years, I’d met another dad in a similar position, whose daughter was suffering from another rare genetic condition. He was also canvassing for charity of the year and so was a kind of ‘rival’. This brought the reality home of smaller charities needing all of the money and visibility they can get as it’s extremely difficult. It also gave me the realisation that parents are extremely determined when it comes to their families. We had the discussion about one of us pulling out until the next year so that the other had a chance, but in true charity spirit, we decided that we’d both continue as it was for our kids. We would give each other morale support through the process – spurring each other on to get more votes and we would either succeed together or fail together. Hopefully, the former would be the outcome …… I set out, in September, getting the Myotubular Trust through the preliminaries, ready for the final round. Now it began, my contacts list was ready.

I began working through my list, canvassing for votes. If there was a tenuous link between us, they’d receive a request for help and support in voting for the Trust from me. This was three years in the making and so I was determined to make this happen. The day finally came, results day ……

Well, you can get guess the result, based on me writing this article, but the bonus was that my friend, colleague and rival managed to gain the second charity place as well. We’d succeeded together. It was at this moment when I began to breakdown as it had been three years in the making, my family could be proud of my achievement, the Trust could get on the map at the Bank of England, we could earn some much needed financial support and I’d done it in the true charity spirit, supporting a friend through the process. It’s this spirit and determination that still surprises me today as Matthew has given this to me, so thank you little man (or not so little now). I also want to thank my wife Sarah for being so strong through such difficult times, she is amazing. And not forgetting our other bundle of joy, Matthew’s sister Charlotte, who also looks after her big brother.

So, now that we’ve finally got there, over the next 12 months, colleagues at the Bank will raise funds for the Myotubular Trust through a series of fundraising events, from charity auctions and cake sales to a Christmas collection and staff sporting events. The Bank of England is also part of the Pennies from Heaven scheme, which deducts the pennies from salaries for the Bank’s charities, so we are looking forward to a great year of fundraising.

In total the Bank raised £258,411.61 for the two charities, through a series of fundraising events and initiatives including taking part in the London marathon, bake sales, a sponsored football match and the Pennies from Heaven scheme (the scheme allows Bank employees to donate the pennies from their salary to charity). The Bank then matched £25,000 of the money raised for each charity

The two charities also benefited from the success of a charity banknote auction which took place in London on 3 October. A final share of the proceeds from the auction was also donated to the charity Bliss.

The Myotubular Trust used the money to pay for a three year research grant to find treatments for myotubular and centronuclear myopathy.

Exercise for adults with a neuromuscular conditions

Elly lives in Stockport in the UK, she is diagnosed with an unknown form of centronuclear myopathy and attends the Neuromuscular Centre in Winsford for physio treatment. In 2015 she told the Information Point how this had led to her joining a gym.

We are always being told that exercise is good for us, but having a neuromuscular condition can make exercising seem difficult or even impossible.

About two and a half years ago I started going to the Neuromuscular Centre (NMC) in Winsford for physiotherapy every four weeks. At the end of my session I would have a go on an exercise bike they have there. My physiotherapist suggested that I would benefit from using a bike between sessions, so I decided I had two options to achieve this, either buy an exercise bike or join a gym.

I quickly decided that I wasn’t going to buy a bike, as I’m not the best at exercising at home – too many distractions and a lack of self discipline. So I had to join a gym. I used to go to a gym before my diagnosis, thinking it would build my strength but I just got frustrated with the total lack of any improvement and I struggled to use some of the equipment. The only benefit from my previous gym experience was it highlighted there really was a problem with my muscles and made me determined to get a diagnosis.

I went online to look for a local gym that wasn’t too expensive to join, and discovered that there’s a GP exercise referral scheme in my area. This provides subsidised gym membership to anyone who has a long term heath condition, is fairly inactive and isn’t already a gym member. All I had to do was get my GP to refer me which they were happy to do. The main benefit of this scheme for me, was that you are seen by an instructor who has knowledge of health conditions and is aware that you may find exercising difficult.

My first meeting with my instructor was just a chat to find out what I felt I wanted to achieve, and how my condition affected me. I was surprised when he said he’d worked with people with muscular dystrophy before. This was at a sports centre just down the road from me where I also go swimming, but he suggested I go to a gym slightly further away which he also covers, as it has more equipment that would be suitable for me.

I dug out my old gym trainers and went for my first session the following week. As well as going on an exercise bike – which had been the reason for me joining, I was shown two other pieces of equipment. The first was a ‘scifit’ hand cycle which is suitable for all abilities, it has a removable seat so is also suitable for wheelchair users and can be set with very low resistance. I then went on an elliptical cross trainer which is used from a seated position rather than standing, this also starts at a very low resistance level. I’ve been going to the gym for about eighteen months now, usually twice a week. For the first six months I just stuck to using the same three pieces of equipment, slowly increasing the resistance and time spent on each one, although I can only use the bike on the lowest setting.

I recently had a go of a rowing machine at the NMC, this gave me the confidence to introduce rowing into my routine at the gym. I also use some fixed weight resistance equipment, again on the lightest setting. I wouldn’t say that I’ve gained any strength, or that I can walk any further but I think my stamina has improved so I don’t get as out of breath as before and my posture is a little better. I also feel my self confidence has improved. So I’ve definitely benefited from going to the gym, and I’m thankful to the NMC for encouraging me to do this.

Last year Muscular Dystrophy UK brought out exercise guidelines for people with a neuromuscular conditions. It contains a lot of useful tips and had it been available when I first joined the gym, I would have printed it off and taken it along with me. I find the advice that exercise shouldn’t be too strenuous, and you should feel ‘comfortably out breath’ helpful to keep in mind, as sometimes I’ll have a day when I can’t manage the distance or level I’ve achieved before and this doesn’t matter, so long as I’m exercising and getting a little breathless it’s worthwhile.

Wedding bells

Neil Martin is diagnosed with recessive myotubular myopathy. His story appeared in The Information Point newsletter Our World, firstly in 2015 when Neil told us about his upcoming wedding to his fiancee Ginny and how he was fundraising for a standup wheelchair for his wedding day and again in 2016 after he was married.

Neil and Ginny.

2015

Neil Martin is diagnosed with recessive myotubular myopathy which has seen him using a wheelchair for the past eight years. On 1 August 2015 he will marry Ginny his fiancee of nine years at All Saints Parish Church in Westbury, Wiltshire and is hoping to raise £15,000 to buy a standup wheelchair, so he can say his vows and have his first dance standing up. Neil was inspired after seeing footage of an American army veteran hoisted up for his first dance at his wedding last year, however the standing frame manual wheelchair Neil wants cannot be funded by the NHS, so he has has begun fundraising to buy the chair himself, which will also provide health benefits, for example improved lung capacity and circulation.

Neil told The Information Point ‘Ginny and I have been together for 14 years, we met through a friend who was seeing Ginny’s friend. I asked if she had a friend and she did, that was Ginny. We started talking on the phone and hit it off straight away, talking from around nine at night until four in the morning, even though we both had work the next day. After around two months we met up and had the attraction towards each other straight away – the rest so to speak is history’.

‘When Ginny and I were dating we used to put slow records on and just dance to them in the front room which was wonderful and something I now miss, so if we raise enough money to fund the purchase of the wheelchair it would be amazing, not just for me but for Ginny. Don’t get me wrong I have no worries about being in a wheelchair, infact my life is easier now I’m in it but for one day I would like to stand, look Ginny in the eyes and say ‘I do’. It’s only a small wedding really with family and friends invited but it’s been a long time coming and now we can’t wait’.

Neil began fundraising online at the beginning of 2015 and says ‘We have also had a charity auction at which we raised £3,265.25 and we’ve been invited to attend a football tournament in June, where any money raised will be split between ourselves and another charity. We have been attending lots of wedding fairs to talk about what we are trying to achieve and have been on ITV news, BBC local radio, Heart radio, in local newspapers and a wedding magazine too. Also we will shortly be registering as a charity with the aim of helping others that need a little help with getting a wheelchair too – it is early days but out of my wish, a charity has been born.

2016

On 1 August, Ginny and I said ‘I do’ at a church in Westbury after 14 years as a couple. Three days before the wedding, I found out that the £15,000 that was needed to buy the standup wheelchair I had been fundraising for, the chair which would enable me to say my vows to Ginny standing up, had been raised.

Only my best man Jason and Ginny’s bridesmaid Sharon knew about the chair before the ceremony. On the day of the wedding I got to the church early, so I was sat down when the congregation arrived but then when the vicar said ‘please stand’, I stood too and because the congregation had looked round to see Ginny they didn’t see me stand up. Then when everyone turned round, to watch Ginny walk down the aisle, they saw me. People were crying and Ginny was gulping down tears.

The difference the chair made on the day was amazing. On the Thursday we had the rehearsal and I was sat down with people towering around me but on the day of the wedding I was their height and it felt so good to talk at eye level again. I got to say my vows, walk down the aisle and give my wedding speech, as well as having my first dance with Ginny standing up. And now the chair is making a difference to my daily life too – I can talk with people at eye level, my breathing is better when I stand and so is my circulation which are brilliant health benefits.

In the run up to the wedding I didn’t have time to worry, about whether the fundraising would be a success or not but when I learned the fundraising total had been reached it was like, wow we’ve done it – I couldn’t really believe it. The people who helped by donating were amazing and nothing I can say would ever be enough, as without every single person we wouldn’t have got to the point we did. All I can really say is thank you, you really made our day.

We Love You Wednesday

This story about Cooper, first appeared in a 2015 issue of The Information Point newsletter Our World, when Cooper’s mum Natalie told us about  Cooper appearing in the We Love You Wednesday campaign for clothing company Gymboree.

Cooper

Cooper Bushey is five and a half years old and lives in Ohio, USA with his mum Natalie, dad Matt and twin sister Lilly. He is diagnosed with myotubular myopathy and recently featured in the We Love You Wednesday campaign for clothing company Gymboree.

The campaign asks parents to share photos of their children in Gymboree clothing for the chance to have the photos displayed on Gymboree’s Facebook page. It enables children who are not models to model the clothes and show they still look good on children in regular situations and it is also a bit of fun to see how kids put outfits together.

Natalie told The Information Point ‘A fellow nurse co-worker was kind enough to take the pictures for me. She knew I had ordered cute outfits for the kids and that they had to have pictures done in them. I actually entered photos of both Cooper and Lilly, I was so proud of the pictures and my kids. Whenever I can share their cuteness I try to’.

Of the photo being selected Natalie says ‘It is so nice seeing big companies being inclusive of all kids. In a little over 12 hours Cooper’s picture received over 200 likes, mainly from complete strangers and I think it was a great opportunity to show a kid that isn’t ‘classically’ beautiful. Even though he has extra hardware and can’t smile the biggest, he still has a light and beauty about him that radiates’.

Natalie decided to use the opportunity to raise awareness of myotubular myopathy by tagging the photo #CooperforGymboree on Facebook and Twitter and including links to websites for further information. Natalie says ‘I was hoping that by using the hashtags #Gymboree and #CooperforGymboree we could possibly get more photos included and the company would see the need for a diverse group of models’.

Tubie Friends

This article about Kyle, first appeared in a 2015 issue of The Information Point newsletter Our World, when his grandmother Darlene, told us about the organisation Tubie Friends. 

tubie2

Tubie Friends was started by a group of mothers in the USA whose children have been or are currently using a feeding tube as a primary source of nutrition and knew, that when a parent is told their child needs a feeding tube or other medical equipment, it can be a scary time for the entire family.

Kyle Miller is 13 years old and lives in Maryland, USA. Diagnosed with X-Linked myotubular myopathy, Kyle has had a trach and feeding tube since he was one month old. He recently received a Tubie Friend as a gift from his grandmother Darlene.

Darlene told The Information Point ‘I found out about Tubie Friends animals on Facebook via another group I belong too. They match a Tubie Friend to each child based on information you provide, such as if they have a trach, feeding tube or pic line’.

‘Tubie Friends are important for children like Kyle as they can connect to them. They give the child a sense of enjoyment knowing other people think about them and try to make things feel natural to them. Kyle’s Tubie Friend was a surprise, he didn’t know I had ordered him one until it came. On receiving it he said “Hey, this dog has a trach and g-tube just like me. This is really awsome”. It was the first time he has gotten something that was so much like him and it makes him feel special. He tells everyone that comes to our house look what I got in the mail’.

‘Kyle named his Tubie Friend Frenchy. The stuffed animal came with a card saying he could choose a name and also the name of the person who had fixed it for him. Kyle names all his things after things he likes. His pet dog’s name is John Deere (JD for short) and he likes french fries – as he was eating them at the time the Tubie Friend arrived it was only natural he name him Frenchy’.

As much as possible Tubie friends mirror a child’s medical interventions to the animal they are receiving, by placing a similar feeding tube, as well as additional medical interventions such as central IV lines, tracheostomy tubes or oxygen cannulas if possible. Additionally, each Tubie Friend comes with a parent letter providing information and listing support groups for feeding tubes.

Tubie Friends were initially intended for people with medical devices and who are developmentally under the age of 18. However, in addition to bringing comfort to a child, Tubie Friends can also be used as a teaching tool for family, friends and caregivers and can be purchased for adults, schools, siblings, caregivers and doctors also.

The Little Man’s Big Journey

This article was written by Corinna Roberts for a 2015 issue of The Information Point newsletter Our World. Corinna lives in Anglesey, North Wales with her husband Brian and son Hari Glyn who is one and a half. She is diagnosed with recessive myotubular myopathy and recently appeared on the S4C television programme Taith Fawr y Dyn Bach which in English translates to ‘The Little Man’s Big Journey’. 

Corinna and baby Hari.

The original concept for Taith Fawr y Dyn Bach grew from a one off programme about the shows presenter Jay Lusted. Jay has a form of dwarfism and he first did a programme about his life, how he thinks and feels about being disabled and the actual word disability. The programme was received very well, so it was decided to expand on the idea with a series of programmes where Jay meets other people with disabilities all over Wales.

I got asked if I would like to participate in the show by the shows producer who I have known for years. I was a little apprehensive to begin with, as I didn’t want to be on a programme that showed being disabled in a negative light but the producer asked if I would like to see the first series of the show before I made my decision. Once I had seen the DVDs I loved the show and agreed that I would be interested in taking part. It was clear that the programme aimed to show people living with a disability, any disability, in a positive light and to open peoples eyes to everyday people who live their lives, do everyday things and have goals they want to achieve, showing that the only thing that makes them different, is that they happen to have a disability.

The programme makers had a few people to choose from with all different disabilities (the other people who appeared in the series with me were Tina who has Friedreich’s Ataxia, Dafydd who is autistic, Catrin with Spina Bifida and Tanwen and James who both have learning disabilities) but they only wanted six people, so I was interviewed by the producer and then the programme makers were asked to make their decision.

They had not heard of centronuclear/myotubular myopathy before and thought it would be interesting to follow my story – the theme for the series was family, I was expecting my first child at the time and unsure how being pregnant would affect my condition or if my baby would be affected by the condition. My pregnancy was another reason I decided to participate, I thought that it would be something great to show my little boy when he is old enough to understand, for him to see me pregnant with him and to see himself only a few months old – I thought it would be a pretty special thing for him to see. My sister Tracy was also pregnant with her first child at the time and appeared on the show too. I was due in November and she was due in December and the programme makers wanted to compare our pregnancy stories. As my sister does not have a disability they wanted to see if I had a more difficult pregnancy due to my disability or not. Also Tracy was unsure if her child would have my condition.

It was a pretty strange experience being filmed and I really dreaded the first day of filming, as I have never been filmed before and it was them filming my last day at work before leaving for four months maternity leave, so it was a pretty strange day anyway but once the first day was over I felt happier and more relaxed about the filming.

It took over our lives for a while, just a 30 minute programme took weeks to film, but the filming crew were great, they understood that I get tired really easy, so they would try and only do half days a couple of days a week.

The response after the show has all been very positive, people that live around me who have seen me about have been happier to approach me and ask me about my condition and said that they now understand a little more about my disability. I was relieved when the filming was done but it was a great experience and I would probably do it again, as I would do anything I can to promote positivity around disability and to raise awareness of centronuclear and myotubular myopathy.