Conrad and the sunflower

This story first appeared in the Information Point newsletter Our World in 2013, after an email arrived out of the blue. It told a touching tale of a chid born with myotubular myopathy and a sunflower. Thank you Emma for taking the time to write, your kind words and for sharing lovely story with the world.

After trying for some time, last July, my husband and I found out I was pregnant. Earlier the same year my husband and I had some stumps ground out of our lawn leaving a few substantial piles of dirt in the yard. In one of the piles a sunflower grew – seeming to come from nowhere. We enjoyed the sunflower all summer and into the fall.

When our precious Conrad was born he was not breathing and was floppy. Long story short, after genetic testing we learned that Conrad had myotubular myopathy.

In my frantic search for information about Conrad’s condition, I came across the Information Point and read about the Sunflower Project. In that moment I knew that our mysterious sunflower was God’s way of telling us that He already knew what Conrad had and that he was preparing the way for Conrad’s life even while he was being knit together in my womb. Even when it seems that nothing is fair and the world does not make sense, God is in control and He has a plan for our darling little boy.

I am learning already that boys with MTM and the families who love them are very special people. Thank you so very much for all the work you have done to raise awareness about centronuclear and myotubular myopathy and for being here when I and my family needed you.

Sophia soccer girl

This story first appeared in the Information Point newsletter Our World in 2013, when Maria Mead Stokes told us about the opportunity her daughter Sophia had to play in the VIP soccer league. 

Sophia's first day of soccer practice.

Sophia is ten years old and is diagnosed with centronuclear myopathy. She lives in Florida with her mum Maria, dad Darren and brothers Dalton 7, Landon 2 and Gavin 4 months. Recently Sophia was given the opportunity to play soccer with the VIP Soccer League. Below Maria writes about what the opportunity means to her and her family.

The VIP soccer league in South Florida is a wonderful program for children with disabilities which allows children and adults, whose physical or mental disabilities may make it difficult to participate in mainstream teams, the opportunity to get involved in sport. The program is completely funded by the state of Florida with no costs to the families regardless of income, which gives those whose physical or mental disabilities may make it difficult to participate in mainstream teams, the opportunity to get involved in sport.

The organisation believes that everyone needs to feel a sense of belonging and acceptance and has the philosophy of ‘everyone plays’, so players may be blind or visually impaired, have mental or emotional challenges, Autism, Downs Syndrome, Cerebral Palsy or conditions that impair their mobility such as Sophia and uses ‘buddies’ for encouragement and friendship to help players both on and off the field, by teaching participants they can do anything and accomplish wonderful dreams of their own. In turn the buddies increase their appreciation and understanding of individuals with various challenges.

Sophia attended her first soccer practice on Friday 12 April. The photos show blue skies but on the other side of the field it was completely black with storms and lightning coming towards us. We still had a great time though. Everyone involved, adults and children, were so kind, friendly and eager to assist. Sophia can’t wait to go again, she made some great friends that have already spotted her at school and are now yelling ‘Hi Sophia’.

Happiness, love and friendship is our goal for Sophia throughout her entire life and this has already had a definite impact in Sophia’s life and personal acceptance. We are so excited about the program – Sophia has always wanted to play soccer like her brother Dalton and now she can. We can’t wait to cheer her on at future soccer practice or to see what Sophia will do next.

sophia-4 sophia-3 Sophia at soccer practice.

Genetic mystery solved

This story first appeared in the Information Point newsletter Our World in 2012, when Sarah Foye told The Information Point how taking part in the Clarity Challenge at Boston Children’s Hospital solved her sons genetic mystery.  

“Negative.” “Normal.” “Fails to confirm the diagnosis of . . .”. “Etiology of the patient’s disease phenotype remains unknown.” These are all words that we have heard repeatedly in the past 11 years of our son’s life. In fact, negative (normal) genetic test results have been reported back to us 13 times. Each of these tests requires a painful blood draw, insurance authorization and an agonizing 4-6 week period waiting for results. That is a lot of nail biting for us as Mom and Dad.

Our son, AJ, was diagnosed with centronuclear myopathy (CNM) in infancy by muscle biopsy. The biopsy showed some elements of a centronuclear myopathy pattern, but at the time, genetic testing for CNM was limited to the XLMTM (X-linked myotubular myopathy) form, which AJ tested negative for. We have been seeking a genetic confirmation of his disorder since. As researchers worldwide have discovered addition genes responsible for CNM, AJ has been tested for them, but each time the test was negative. The mystery remained. The search continued.

We’ve wondered: what is his definitive diagnosis? What medical conditions is he at risk for? What impact could this have on future children for our extended family and us? What treatments might help our son? The possibility of finding answers to these longstanding questions is one of the many reasons we chose to participate in the CLARITY challenge at Boston Children’s Hospital.

The goal of the CLARITY (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) Challenge was to identify best methods and practices for improving the reliability and accuracy of the genomics-to-clinic pipeline spanning sequencing, analysis, interpretation and reporting – to provide the most meaningful results to patients and their families.

40 academic and commercial organizations applied to participate in the CLARITY Challenge, a contest to identify the putative disease-causing mutations in three young patients. 30 were selected and agreed to compete. 23 submitted entries by the September 30 deadline. Contestants entered from all over the world, including North America, China, India, Israel, Italy, Germany, the Netherlands, Singapore, Slovenia, Spain, Switzerland and Sweden. They had about four months to analyze genomic (DNA) data and medical histories of each of the patients and their families and submit their reports. Boston Children’s Hospital awarded $25,000 in prize money to the winning research teams, which were selected by a six person judging panel.

The contest organizers — Isaac Kohane (director of the hospital’s Informatics Program), David Margulies (executive director of the Gene Partnership at Boston Children’s Hospital) and Alan Beggs (director of the Manton Center for Orphan Disease Research at the hospital) unveiled the winners at the annual conference of the American Society of Human Genetics on November 7.

We are thrilled to share the news that using whole genome and whole exome sequencing, the contestants identified the likely genetic cause of AJ’s muscle disorder. The involved gene is called TTN, which codes for a protein called Titin. Titin is a protein located inside muscle cells, where it is crucial for proper muscle function.

Finally having this answer helps us to understand many aspects of our son’s condition. We now know the gene mutation that is responsible, and we know the protein that it impairs. We know how it was inherited and the risks for other family members. We can begin to understand the problem at the level of the muscle cell and its impact on muscle function. We are inspired to further our efforts in support of CNM research and potential future treatments. We have a greater understanding of the medical conditions that AJ is at risk for and can cross off ones that he is not at risk for. Having a genetic diagnosis is not a final destination on our medical journal, but it is a hugely important milestone along the way. We also hope that this discovery advances the current understanding of CNM overall.

Undoubtedly numerous other families with CNM that have previously eluded genetic diagnosis will turn out to have mutations on the same gene as our family. Thus, a new subcategory of CNM is born: titin myopathy. Titin myopathy now has a place right along other forms of CNM such as XLMTM (X-linked myotubular myopathy), autosomal dominant CNM (Dynamin 2, DNM2), Ryanodine Receptor 1 (RYR1) CNM, and Amphiphysin 2 (BIN1) CNM. Other forms of CNM still remain without a genetic diagnosis and research is ongoing. By learning more about the similarities and differences between the various forms of CNM, hopefully researchers can better understand why these myopathies occur and what treatments may help.

We are truly grateful to have had the opportunity to participate in the CLARITY Challenge. We are happy to have a genetic answer to our family’s questions and hope that subsequent resultant research will help all of our CNM families move further along this journey that we all share. Many thanks to Boston Children’s Hospital and the international contestants for working on our case and working to move the industry of clinical genomics forward.

International Musical Eisteddfod

This story first appeared in the Information Point newsletter Our World in 2012, when Mike Abram told The Information Point about attending the 66th International Musical Eisteddfod in Llangollen. 

Mike and wife Diane.

In July my wife Diane and I attended the 66th International Musical Eisteddfod in Llangollen.

The Eisteddfod was started in 1947 by Harold Tudor, with the aim of trying to heal, through music and friendly competition, some of the damage caused by the Second World War. Fourteen nations were represented at the first Eisteddfod which cost £6,000 to put on and the event has been held every year since.

Today the Eisteddfod costs hundreds of thousands of pounds with more than 4,000 musicians, singers, and dancers from around 50 countries, descending on Llangollen each year to perform and compete at the festival, uniting countries through song and dance.

This is the fourth time we have attended the festival, having previously seen Michael Ball, Lulu and Russell Watson perform there. This year we saw the tenor Alfie Boe best known for his role in the musical Les Misérables perform. As expected, the show included operatic and musical numbers but unexpectedly we were also treated to songs from the Eagles, Roberta Flack, the Rolling Stones, Bob Marley and Elvis.

I think it may have been a little noisy for the die hard Eisteddfod bunch but the rest of the 5,000 sell out crowd, which included Alfie’s family and Terry Waite, the ex hostage and ex envoy to the Archbishop of Canterbury, now International Eisteddfod president, were roaring the tent down. Di and I would go back again without hesitation if we could. Alfie Boe has an amazing voice and a great sense of humor.

Our tickets were purchased over the phone at which time we requested a disabled pass. This was important as it meant we were able to park in the disabled car park. If we were not there, we would have been in a field next to canal which gets very wet after rain. Disability access to the Eisteddfod site was mostly good for an outside venue with hard road and paths and ramps to all areas. One negative point was the path to the the main gate which was short but steep. A local car dealer had provided free cars for those with mobility issues who couldn’t manage the slope and these were available to take people up the slope, to the craft and food area or all the way to the tented performance area. However, you had to be able to reach the main gate at the top of the path, to request the car. In my case, Di was able to go up for me but if the person I was with had also had issues or if I had been attending alone, it would not have been possible to request a car.

While the concert was a great experience there was much more than just that to see. We saw competitors take part in a street parade around Llangollen with everyone dressed in national costumes and enjoyed the festival atmosphere in the Eisteddfod field, which included a craft market and food stalls selling English, Welsh, Indian, French and Cajun cuisine, the latter which did food tastings.

The festival was a terrific way to spend a beautiful summer day and one I would be very happy to repeat.

Eisteddfod parade

* Eisteddfod Parade photo courtesy of Howard ‘H’ Pimborough.

Dublin marathon

This story first appeared in the Information Point newsletter Our World in 2012 when Wayne Fitzgerald told us about running the Dublin marathon for his friends Marie and John, to raise funds for The Myotubular Trust. 

Marie and John Loughlin live in Galway, Ireland and have lost four sons to Myotubular Myopathy. Earlier this year their friend Wayne Fitzgerald decided to run the Dublin Marathon to raise funds for the Myotubular Trust. Below Wayne writes about training and what it meant to take part in the event.

Training for this marathon began some time back, when the idea of completing it was planted in my head by a friend who also wanted to run it but decided prior to our planned start date against the idea. I on the other hand felt as I had asked a friend to design a running programme for me, that I would continue with the plan.

As a member of the Irish Defence Forces I have always kept a certain level of fitness. Prior to training for the marathon I tried to complete three weight training sessions and two to three runs a week. Once the marathon training kicked in on July 4th I stopped training with weights and concentrated almost solely on running. The very rare time I did a weights session it was to complement my running by concentrating on leg muscles exercises with light weights.

My first run on July 4th was a four mile run leading up to eight miles on the first Sunday of a sixteen week programme. Each week was different with regards to distance and types of run. These varied from three miles ‘Hard’, to hill sessions, interval training, fartlek and of course endurance runs with the shortest been eight and the longest pre marathon run of twenty two miles. During these runs I would rehearse my eating and drinking planned for the marathon day. By doing this I learned what foods I could eat without fear of my body rejecting them on the day. It also afforded me an opportunity to gauge at what stage I would suffer most and how to minimise this effect. I found later in the training programme, towards weeks 12 – 16 , that using ice baths and very often the sea is a brilliant form of recovery. After long endurance runs or the end of a tough week, ten minutes in the Atlantic Ocean, while often freezing, aided my recovery substantially. I also had three physiotherapy sessions during the training that ensured I was in perfect shape for the marathon.

The prospect of running for X Linked myotubular myopathy entered my mind long before I approached John and Marie and asked for their permission. I, like many of their friends was aware of the illness and the pain it had caused to them and their families. John and Marie have always been very open about their sons and are willing to speak of the illness. The fear for me was I was afraid of upsetting them or opening old wounds. Then one day at work, a friend asked me was I running the marathon for any group. I replied no and he said ‘why don’t you run it for Locky’s boys’. So I went to John (aka Locky) and asked him was it ok for me to do it. John of course being the type of man he is, answered absolutely.

With John and Marie on board, the training, despite entering a tough phase now had a real purpose, something greater than running a marathon. We as one, were going to spread awareness of this illness. Plus for me, when the endurance runs got tough, I had added motivation to complete them.

As part of our plan, we raised sponsorship for X Linked myotubular myopathy but the greatest result we got from this was people asking ‘what’s that’. The run provided us with a platform to educate people and spread awareness of this illness. It was an opportunity to spread word of websites, contact groups and other people who had been through this and could offer support to people in the event it occurred in their home.

After 16 weeks of training, the day of the marathon had finally arrived. Standing at the start line waiting to go, a number of emotions ran through me. I was partly relieved to be standing there, proud to be running for the little men watching over me, nervous about the challenge ahead and apprehensive about the run.

My wife Lisa, who supported me all the way through the training, putting up with me coming in the door from work just to change into running gear and go back out the door, leaving training gear dotted round the house and my general absence, had traveled to Dublin with my girls Alayna and Emma to support me. I thought about them a lot on the start line and how lucky I am to have them and how grateful I am to them for being a source of motivation.

As the race began I ran at my pace. People have often got caught up in the moment and take off too fast causing severe problems later in the race. I found however by running some shorter races during my training; ignoring all the other runners and running as I had trained, that I felt strong as I passed each mile marker until around 23 or slightly after. By 20 I had hit my wall and began to feel tired. As I passed runners and others passed me, I noticed various groups and charities on the runner singlet’s and tshirts so I thought a lot about X Linked myotubular myopathy and John and Marie’s little boys.

By the time I had reached 25 miles I was really feeling pain and it was around then the race came back into Dublin City. I knew then not only would I finish the marathon but would do so under my planned time, without walking one step and would have helped raise awareness of X Linked myotubular myopathy. I thought of John and Marie’s’ little boys at this point and whispered thanks to them for watching over during the race.

Finishing the marathon while though a nice feeling, was never about me as an individual, it was about continuing through barriers to achieve a goal. Often in life there will be no goal, no end state but somewhere along the line a difference will have been made and that is what we did as a team by running the Dublin City marathon and raising awareness for X Linked myotubular myopathy.

Working at The Myotubular Trust

This story first appeared in the Information Point newsletter Our World in 2012 when Mel Spring, the Communications and Education Officer at the Myotubular Trust, told us about her work and what led her to take up the role. 

Mel's son Jack with Tom Lennox. Jack had his blue cast changed to pink to raise money for the Myotubular Trust.

3rd November 2008 – my first day. Nervous doesn’t even come close to how I felt despite the fact that myotubular myopathy was not new to me. My background was 17 years in banking followed by a few years in a secondary school – this was very, very different.

My journey with myotubular myopathy began on 21 July 2003 when Tom Lennox came in to the world; the first son of my dearest friends Anne and Andrew. On the sidelines, watching the tests and diagnosis slowly unfold, watching those I hold so dear hoping and loving in a way which I’d never before witnessed.

That particular journey sadly came to a close on 29 May 2007 – a day which I shall never forget and a day which I remember oh so vividly every time we hear the heartbreaking news that another life has been lost to this cruel and devastating condition.

Sat at a kitchen table with a mountain of documents about myotubular and centronuclear myopathy surrounding me, as I started to read, it hit me just how much Anne and Wendy had achieved in just 2 years; each working in their own homes, many miles apart and both managing their own personal challenges. It was almost impossible to comprehend that they could have done this given their circumstances. I was, and am, still in total admiration of them both and consider myself very lucky to work with, and alongside, such inspirational ladies.

Within days I was ready to send an email to introduce myself and explain my new role. The welcome from family supporters was so warm you could have toasted marshmallows on it and the warmth and the number of people with whom I have the privilege to be in contact with continues to grow. I now have so many new friends.

To say that my role is diverse is something of an understatement. In any one day I can be posting wristbands, doing book keeping, climbing in the loft to stock take t-shirts, supporting a fundraiser with an event and sending information to a family which has just received a diagnosis. My home, where I work, is full of t-shirts, collection boxes, Christmas cards and files but whilst I sometimes curse when I stub my toes yet again on the boxes at the bottom of the stairs, I count my blessings daily.

I count my blessings because I am in contact, almost daily, with people who inspire me beyond words. This is the most humbling of jobs; children collecting their coppers to donate in memory of a lost friend; journeys from so far away to support an event; excruciating personal challenges; people forsaking gifts when celebrating very special personal occasions; and so heartbreaking – the news of the loss of a warrior.

It’s fair to say that so often the tears flow for the loss of somebody you’ve grown to know so well; there are so few affected by the condition that those who lose their fight are more than just a name on an email – they are people who we have grown very close to, know so much about and care for. I can spend hours trying to find the words to say just how truly sorry I am each time such sad news comes our way – it will never get easier and I guess the day it does is the day when I resign.

There are days when you are so emotionally drained by tragic news or by attending the fundraising events that remind us time after time why we have come together, that it would be easier to walk away than to carry on. But, the strength and the love that I have witnessed in each and every family and adult living with the condition that I have had the joy to know, and sometimes meet, provide such motivation and strength and for that I thank you all. Whatever your personal journeys, you all amaze me – I thank you all for allowing me to share some part of your journey.

The Wall: A Tale of two Americans and two Italians and Their 69 mile quest

This story first appeared in the Information Point newsletter Our World in 2012 when David Lewis told The Information about taking part in The Wall to raise fund for The Myotubular Trust. 

On the weekend of June 23rd, team Aquilam Quaerentes (David, Filippo, Guido and John) joined 700 other crazy people to run the Wall, a relay from Carlisle to Newcastle following the path of Hadrian’s Wall. It was rainy (a lot), muddy (even more) and hilly (too much) but it was also fun and the team raised £12k for the Myotubular Trust, completing the run in 12 hours 47 minutes and 15 seconds (8th Relay Team overall). Below, David writes about the experience.

Our first major obstacle turned out to be the drive from London to Carlisle which we had anticipated to be a leisurely 5 1/2 hour drive … 10 hours later we arrived in a drenched Carlisle having been buffeted by torrential rain and high winds and having been subjected to some of the finest traffic that England has to offer. After that drive, the Wall was going to be a snip.

After a good meal and a good night’s sleep, Filippo was raring to go the next morning. He arrived at historic Carlisle Castle for the 8am mass start in the driving rain. Because of the extent of the local flooding (remind me again why there was a hose pipe ban in England this summer) the organisers altered the route to make the running safer. Some 2 3/4 hours and 15 miles later, Filippo, having run through a rushing river and otherwise experiencing the wonders of the rolling hills of the Cumbrian countryside, limped across the line and touched in at Lanercost Priory, an Augustinian monastery founded in 1169, to hand the baton off to David.

Our team spent some time congratulating Filippo on making it and discussing his adventure before a very scared David took off for a short 17 mile uphill jaunt towards the Roman fort of Vindolanda. Although the run began in sunshine, it was fleeting and the weather returned to wet and windy. The scenery in the hills during this stage was generally masked by the rain clouds and in any case the runners spent most of the time staring at the ground to see whether the next step would be in water, mud or ‘slurry’. When the occasional walking rest was taken the scenery though did prove to be breathtaking (even through the rain clouds). 3 1/2 hours later David finally arrived at the near halfway point at the end of the first day to be whisked away by the team to their luxury Cumbrian hotel which was happily warm and dry.

The following morning it was time for John to hit the trails with a 13 mile run which began with a hill climb like no other. John, a very experienced distance runner, literally had to scramble up the hill on all fours grabbing tufts of long grass to get him to the top of the monster. After ‘the Hill’ John ran along a long, rain drenched plateau before descending into the market town of Hexham and the next handoff point along the banks of the rushing Tyne River.

After a little conversation about John’s 2 hour 20 minute run and ‘the Hill’ it was time for Guido to take up the baton for an ‘easy’ 17 mile segment following the course of the Tyne River. Guido ran as if he were a messenger sent by the Legion to deliver a message to Hadrian. He was so fast that the team didn’t even notice when 2 hours and 50 minutes later he arrived at Newburn/Tyne Riverside Country Park. After the 10 minute team natter about the run it was time for David and John (who felt as though he hadn’t had enough abuse that day) to run the final 7 miles into Newcastle. After a little more than a mile John decided that ‘the Hill’ had gotten the better of him and sent David on ahead to finish the race for the team.

A little less than an hour and several bridges later, David and his ‘Five Finger’ shoes crossed the Gateshead Millennium Bridge and the finish line bringing an end to 2 days and 69 miles of fun and camaraderie but leaving Aquilam Quaerentes with the daunting task of driving back to London.

The benefits of physiotherapy

This story first appeared in the Information Point newsletter Our World in 2012, when The Information Point spoke with Gill Storey, Head of Physiotherapy at the Neuromuscular Centre, a charity that supports people with muscular dystrophy, to learn more about the benefits of physiotherapy for people with muscular dystrophy.

Muscular Dystrophy (MD) is a range of hereditary progressive long term muscle wasting diseases that lead to loss of function and mobility. There are more than 60 different types of MD including centronuclear and myotubular myopathy, which present with varying patterns of disability.

Our muscles enable us to move, breathe, eat and circulate blood throughout the body. However, people with MD may find their ability to carry out these functions is compromised. 

Physiotherapy is a range of physical interventions and services aimed at restoring and improving the function and movement of people with MD to maximise their quality of life. 

Active exercise.

Tell us about the Neuromuscular Centre

The Neuromuscular Centre is a small charity established twenty one years ago to provide physiotherapy, education, care and support to adults with MD. We have a physiotherapy team of seven staff, six of whom are CSP registered and HPC registered and members of national and regional neuromuscular networks and a clinical specialist involved in research trials, national policy and care pathway development for MD.

Why do people with MD need physiotherapy

People with MD need specialist physiotherapy to maintain joint range, strength, mobility function and independence for as long as possible. Physiotherapy benefits those with MD because if muscles are not used they get weaker and smaller and are unable to carry out their normal function, for example if someone has weak thigh muscles (quadriceps) they will not be able to climb stairs.

Although people with MD cannot be cured, physio can be adapted to meet the changing needs of the patients and is crucial in delaying the need to go into a wheelchair, preventing falls and resulting injuries.

What does a physiotherapy programme for someone with MD involve

The range of treatments available are:

  • personalised exercise programmes to maximise muscle power and ability
  • muscle stretching techniques to maintain and improve joint range
  • hydrotherapy
  • assisted standing using tilt tables or standing frames to promote weight bearing, aid digestion, respiratory and cardiac function and bone density
  • acupuncture can be used to treat chronic pain commonly caused by poor posture and positioning in MD
  • chest physiotherapy to improve lung function, prevent chest infections and avoid hospital admission
  • access specialist exercise equipment that enables people with varying muscle power to perform to their maximum ability
  • use of massage, mobilisation techniques to treat injury and long term chronic pain
  • equipment advice and carer support

If muscle function has been lost can it be re-gained

Normally muscle power can be improved with exercise but with muscular dystrophy the muscle is inefficient and although normal power cannot be restored, it can be improved and maintained, although this varies from person to person depending on the type of MD.

Why is exercise appropriate

Exercise of an appropriate intensity and frequency tailored to the individuals needs and planned and monitored by an informed professional is beneficial to muscle strength, function and general fitness. However over exercise or inappropriate exercise can have a detrimental effect to muscles.

Does treatment need to fit an individual or does one size fit all

There are certain areas that you would expect to be affected with different conditions for example it would be expected that someone with FSHMD would have tight pectoral muscles, however, all exercise should be planned on an individual basis.

Does massage benefit patients with a neuromuscular condition

Massage techniques can be beneficial in providing relief from muscular pain or tight muscles in conjunction with a physiotherapy massage treatment and is proven to be very effective when used alongside heat therapy.

Why is specialist physiotherapy for people the MD so important

Local clinicians often feel patients can be seen by neurology or rehabilitation physiotherapy teams but these only provide short term intervention which is not always appropriate. MD is a relentless, hereditary, progressive disease that requires ongoing physiotherapy and care delivered by clinicians who specialise in this area. All types of MD present differently and mainstream local NHS services are unable to provide the regular, long term intervention that is required. Those who attend the NMC report that physiotherapy:

  • prevents GP appointments and minimises hospital admissions
  • prevents falls
  • provides timely intervention following injuries and RSI’s
  • enables them to maximise their mobility, independence, function and enables that to remain in employment for longer

New Zealand adventurer

This story first appeared in the Information Point newsletter Our World in 2012 when Kelly Mclean who lives in Adelaide, South Australia and is diagnosed with recessive centronuclear myopathy, told The Information Point about a cruise around New Zealand. 

Kelly with new friends.

Since I was young I have dreamt of going on a cruise. I always thought it looked a luxurious, fun, relaxing, adventure and in March, my dream came true when I embarked on a 13 night cruise of New Zealand on the Sun Princess with my friend Jane.

We departed from Sydney and visited Bay of Islands, Auckland, Mount Maunganui near Tauranga, Napier, Wellington including Mount Victoria lookout, Dunedin and Milford Sound before returning to Sydney.

Jane and I travelled with Princess Cruises. We were told they have slighly newer ships and an extra star rating on their main competitor P&O. Also, they seemed to offer more options for travel throughout the year, when we needed to travel. P&O is also a young crowd, in their 20’s – they are into partying and drinking. We are in our 30’s and are more likely to be reading or doing a crossword. Dags, I know.

The ship was big and we could explore floors 5 to 14. The facilities on board included spa, bars, dining rooms, 3-level atrium including shops, bars, entertainment areas, Princess theatre, Vista lounge, buffet, pool / spas, kids club, night club, casino and an art gallery. My favourite place on the boat was The Atrium – it was visually spectacular and had everything you needed. It was a place to stop for a drink and listen to some live piano or orchestra, a place to shop and the place they did demonstrations such as bar tricks and animal towel folding. It was the centre of the boat, so you got to walk through it to get to either end of the ship.

The first few days, as we crossed the Tasman Sea (open water) was a bit rough and we needed a few sea sick tablets. I did better than Jane but we both did better than many of the others we spoke to, even people who have cruised before. However, once you got used to the swell and the fact that you slowly sway all the time, it is quiet relaxing, like being rocked as a baby.

The boat was accessible but there were a limited number of wheelchair accessible rooms with wide doors and an accessible bathroom, so it is important to book early. The only limitation was getting on the deck. Each door has ramps, but I bottomed out at most because my scooter is close to the ground. There was one automatic door off the buffet that I used to access deck 14 but in my opinion, this was the best deck anyway. Also, I couldn’t disembark at two of the stops – Bay of Islands and Akaroa. The ship stayed in deep water and passengers had to transfer to a smaller boat and be taxied in. These boats are not accessible. This didn’t bother me though as it gave Jane and I a break from each other and me some time to sleep. It was an exhausting trip – so much to do on and off the ship.

The trip was my first, independent of my parents, so that was pretty special. My first look at the ship made me feel like a kid in a candy store, it was so impressive. I loved the ‘family’ feel on the ship. Everyone said ‘hi’ in the corridors, chatted in the lift and was happy to include you in their teams at afternoon quiz and other times. We had some great chats at the dining table – we had set seats and set time for tea so built up a good friendship with our group. We swapped email addresses and have already been in contact with each other. Also I loved reconnecting with Jane; we live 7 hours from one another now but once lived together and studied together for three years.

I loved all of New Zealand and the ship experience. Everywhere we visited had its unique and beautiful features. I especially loved Milford Sound which was overwhelmingly beautiful, a ‘pinch me now’ place. We were extremely lucky with the weather, getting sunshine when they usually have rain.

I would absolutely recommend a cruise to others and believe it is the most wheelchair accessible way to travel. Transport, accommodation, food and entertainment are all in one place and there is no need for packing, unpacking or setting up equipment over and over. You are also dropped easily onshore for day adventures. The staff are so helpful and are setup to help people with mobility issues to board and disembark. Seamless.

I now have the cruise bug and would definitely travel this way in future. We hadn’t even gotten of the ship and Jane asked ‘When is our next cruise Kelly?’ So, in a few years, we will look into going the Pacific Islands we think. The sky is the limit now.