Rare Disease Day 2014

This article first appeared in The Information Point newsletter Our World in 2014 when the centronuclear and myotubular myopathy community supported Rare Disease Day in a big way, showing their support on social media and by wearing blue and denim.

Erin Ward told the Information Point: ‘This year for Rare Disease Day, we encouraged our family and friends to again ‘Wear Jeans for Rare Genes’ to help raise awareness of rare diseases. We are so proud of our Will for living bravely with MTM everyday, especially on rare disease day this year, February 28th, as he turned 13. In our photo Mark and I are also wearing our MTM awareness shirts from our zazzle store for the US conference’.

Maggie Mae told the Information Point: ‘Our son Lincoln had a GI appt on Rare Disease Day so we made tshirts and proudly wore them out and about. He just turned three months old.’

And Melanie and Daniel Whiston, founders of Where There’s a Will There’s a Cure ran a Facebook event to encourage people to show support for people with rare diseases and to wear blue to raise awareness for myotubular myopathy.

Thiago Kimberly

Rare Disease Day

The centronuclear and myotubular myopathy community has taken part in Rare Disease Day for a number of years.  On this and the pages below you can read about the event.

Rare Disease Day takes place annually on the last day of February and aims to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policymakers, researchers, health professionals and anyone who has an interest in rare diseases.

Since the first Rare Disease Day in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and over 80 countries now participate. The political momentum resulting from the day has also served for advocacy purposes, most notably the advancement of plans and policies for rare diseases in a number of countries.

Myo the traveling turtle: 2016

During 2016 Myo the traveling turtle continued his travels around the globe. Myo’s mission is to travel the world, visiting members of the centronuclear and myotubular myopathy community, bringing smiles and helping the CNM/MTM community stay connected.

Myo and Nathan

In 2016 Myo continued his adventures, which included a weekend at Picacho Peak State Park in Arizona with the McDermott family, a hiking trip with the Mashinchi family along the Pacific Coast trail in Oregan and a visit to see Grayson, who was in need of some smiles, at the Children’s Medical Center in Dallas.

Myo and Grayson.

Myo met researchers from the University of Florida, Dr. Barbara Smith and Terry Sexton) learning about the Respiratory Muscle Function Study for XLMTM, in California he met the Serafano Family and in Texas he met with the Swed family.

In May Myo travelled to Germany where he did a little sightseeing before attending the European Family Conference in Frankfurt, held by ZNM Zusammen stark e.V. and the Myotubular Trust. While there he also took a little side trip with Tristen Moors from Audentes to visit Dr Muller-Felber in Munich, at one of the clinical sites working towards gene therapy for MTM and where he also got to meet CNM/MTM community members Marian and her son Jeno who has myotubular myopathy.  

 

The Crane family, Northbrook, Illinois. USA

Myo also met the Crane family in Illinois. Myo would have loved to have met Scott in person but spent some wonderful time with Scott’s family, who told Myo all about him and shared with Myo many of Scott’s favorite things.

Together, Myo and Scott’s family laughed and cried and SMILED (just as Scott would have wanted). Scott loved food, was compassionate, funny, witty, clever, hard working, had an outgoing personality, was a computer wiz, and very much enjoyed talking to all his myotubular and centronuclear myopathy Facebook friends. He had a positive attitude and everyone enjoyed being with him and talking to him – both near and far. Scott’s strong spirit is watching over all of you.
The Crane family. The Crane family. The Crane family.

Global Genes Patient Advocacy Summit

 

Myo, our MTM-CNM Traveling Turtle, also made the trip to the 2016 Global Genes Patient Advocacy Summit in Huntington Beach, California and made his rounds at the summit, meeting patients, family members, researchers, pharma industry and government agency leaders, where he had an opportunity to share with other patient groups how he travels around the world with the goal of connecting our community and spreading awareness of MTM and CNM. Myo was happy to meet some new friends and also did some advocacy work, supporting the #CURESNOW campaign through social media.
 Global Genes Patient Advocacy Summit.
Global Genes Patient Advocacy Summit.  Global Genes Patient Advocacy Summit.

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 MTM-CNM traveling turtle on Facebook

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

Brewing for Beggs

 

Erin and Mark Ward’s son Will is diagnosed with myotubular myopathy. In 2016 they told The Information Point about the fundraising event ‘Brewing for Beggs’ which raised money for the Beggs Laboratory Congenital Myopathy Research Fund at Boston Children’s Hospital. 

Brewing for Beggs.

For the past 11 years, our son Will has partnered with Boston Marathon runner Kate Maul, in the Miles for Miracles program through Boston Children’s Hospital. For several years, Kate, her husband Tim Maul and fellow marathon runner and friend, Gretchen Wilson, have specifically designated their marathon fundraising to the Beggs Lab in honor of Will.

This year, they held their second special fundraising event called ‘Brewing for Beggs’ which took place on April 3 2016 at Hopsters in Newton, MA. Guests that attended got to experience making their own brew, drinking some brew and learning about the important work happening at the Beggs Lab. Dr. Alan Beggs and Casie Genetti, of the Beggs Lab, attended the event. It was a fantastic event for a great cause.

Left to right: Gretchen Wilson, Kate Maul, Alan Beggs, Casie Genetti and Will Ward.

Through this event and additional fundraising, Kate, Gretchen, and Tim, all ran the 2016 Boston Marathon and collectively raised over $10,000 towards the Congenital Myopathy Research Fund for the Beggs Lab. We are grateful for their efforts for the MTM-CNM community on behalf of their partnership with Will.

Further information

Together even stronger: European Family Conference

On a weekend in May 2016, the fourth European Family Conference for Myotubular and Centronuclear Myopathy took place in Germany.  Below the organisers Myotubular Trust and Zusammen Stark! write about the event.

On a May weekend full of sunshine and hope, over 100 participants gathered together near Frankfurt in Germany for the fourth European Family Conference for Myotubular and Centronuclear Myopathy. There were 45 families represented from 12 countries, and 16 researchers from Germany, France, Holland, UK, US and Canada. The conference was presented in both German and English with simultaneous translation via headsets.

Balloons

The weekend began with a beautifully colourful spectacle when everyone released a balloon and a wish into the sky. This was followed by a relaxed and happy get together over dinner and drinks. On Saturday, conference delegates heard about the latest developments in research findings, as well as other studies and initiatives in the field of centronuclear and myotubular myopathy. We were so fortunate to have had such great support from the academic community and their presentations were greatly received.

Parachute game

On Saturday afternoon and Sunday morning there was a series of workshops on topics that ranged from Pre-Implantation Genetic Diagnosis, Firefly adapted toys and seating, outcome measures for clinical trials and updates from Audentes Therapeutics on the studies they are currently recruiting for and progress towards human clinical trials for gene therapy.

Photo frames

Children and teenagers had a chance to enjoy a programme especially organised for them on Friday, Saturday and Sunday. They were able to play together with other children inside and out. Afterwards their beautiful faces were painted as tigers, dinosaurs, pirates or beautiful butterflies, they made funny pictures of themselves or other children and then made lovely photo frames for those pictures. A very funny puppeteer made all children laugh with a silly lama, a hilarious donkey named Caruso and with the monkey Charlie. Children were also able to act with real actors to play Red Riding Hood, with a big grandma with the huge ears and mouth. Older children enjoyed playing soccer and going on a treasure hunt.

We also had a rolling demonstration of the re-launched Myotubular and Centronuclear Myopathy Patient Registry which is now managed by TREAT-NMD at Newcastle University. There were lots of opportunities over the course of the weekend for families to connect, for the children to play (and play and play) and for friendships to be strengthened and made. We are delighted to share with you some of the photos, presentations and extracts from the day below which we hope you will find enjoy.

Zusammen Stark! handing over a donation of 10,000 euro to the Myotubular Trust.

Zusammen Stark! were able to hand over a donation of 10,000 euro to the Myotubular Trust that shall contribute to this year’s call on research projects on centronuclear myopathies.

Myo the turtle and sunflower seeds.

Sunday was Mother’s Day in Germany and all mothers got a special present: sunflower seeds of The Big Sunflower Project for Centronuclear and Myotubular Myopathy 2016. We now hope that sunflowers will grow in all homes of all participants and with them the good hope and good spirit of the conference.

#TogetherEvenStronger

Further information

* View the conference book
* View conference photos

The conference presentations are now available on the Zusammen Stark and Myotubular Trust websites.

* Zusammen Stark e.V.
* Myotubular Trust

Myotubular Trust and Zusammen Stark! logos.

Myotubular and Centronuclear Myopathy Patient Registry (Accelerating the pace of research and treatment for MTM and CNM)

Jo Bullivant is the Registry Curator for the Myotubular and Centronuclear Myopathy Patient Registry. Below Jo writes about the latest release of the registry, why everyone diagnosed with centronuclear and myotubular myopathy should register and future plans.

Jo Bullivant

If you were able to attend the fantastic European Family Conference in Frankfurt this year, you may have already met me and heard the exciting news about the latest release of the Myotubular and Centronuclear Myopathy Patient Registry.

The Myotubular and Centronuclear Myopathy Patient Registry is an international patient database specific to this group of conditions. It was started in 2013 by our friends at the Myotubular Trust and recently they joined forces with our Registries Team here at Newcastle University, to take the project to the next level.

The registry currently has 156 members from across the globe; consisting of 126 patients and 30 female carriers. 11 of these are new registrations since we launched at the conference and of course we would love to see it continue to grow.

Why join the registry

The main purpose of the Myotubular and Centronuclear Myopathy Patient Registry is to make it easier to recruit patients for clinical trials. It does this by helping to identify suitable patients for particular trials and by contacting and informing them quickly when there is a trial they might be interested in.

The very existence of the registry can even encourage new research into these conditions, because researchers are made aware that there are already a number of patients who would be interested and easily contactable. This is why it’s important to get as many registrations as we can.

The registry can also be used to inform patients about new treatments that might be relevant to them, to provide scientists with important information about the prevalence and course of the conditions and to give doctors up-to-date information on managing the conditions; helping them to deliver better standards of care for their patients.

The registry data is managed independently here at the John Walton Muscular Dystrophy Research Centre at Newcastle University in the UK. This means it is not linked with any patient organisations or other databases and it is protected under the Data Protection Act 1998. It gets encrypted and stored on a secure server and if we publish or share any data, all personal identifiable information is removed.

What’s new about the registry

Now open for new registrations
Registrations are now being accepted from patients and from parents or guardians of patients.

More control over your own data
New patients registering will get a password protected account so that they can log back in to update or check their information at any time (if you have already registered on the old system, a username and password will be generated and sent to your email address).

Built-in consent
No need to print large patient information documents, or sign consent forms by hand and send back by post. Everything is online.

Don’t have all the information to hand straight away?
No problem, just save your details and complete the rest when you’re ready.

What’s coming next

  • Opening soon for new registrations from female carriers of x-linked myotubular myopathy (XLMTM)
  • Online consent and registry questions will be available in English, German, French, Italian or Spanish
  • Option for your doctor or specialist to check or upload information on your behalf

You can read more about the Registry and join now by visiting the registry website.

* Registry website

If you have any questions or comments, please feel free to send me an email at mtmcnmregistry@treat-nmd.eu.

The Myotubular and Centronuclear Myopathy Patient Registry logo.

10 years, 10 miles, 10 bridges

In 2016 the Myotubular Trust celebrated their 10th anniversary. To mark the occasion, the Trust hosted a 10 mile sponsored walk, taking in 10 of London’s iconic bridges, beginning with Tower Bridge and ending at Wandsworth Park. Below Anne Lennox from the Myotubular Tust writes about the event.

10 bridges image

A 10 mile sponsored walk over 10 of London’s most iconic bridges. 147 people. Seven families with myotubular or centronuclear myopathy with us.

Walkers flew in from Germany, Australia, Holland and Italy … some just for 24 hours. And over £30,000 raised for research.

What a great, great day. We were so thankful for the company, support and fantastic fundraising of everyone who joined us.

A special thanks to the London black cab driver, Mr Tony O’Brien, wherever you are, for refusing to take payment for your fare when the photographers jumped in your cab.

Further information

* View photos from the event
* A potted history of the 10 London bridges

Participants at the 10 bridges walk

Myotubular Trust 2016 film

In 2016 the Myotubular Trust launched a film to mark 10 years of fundraising and to say thank you to all those who have supported the charity in the 10 years since the charity was founded and made it possible to fund promising, pioneering research, bringing ever closer the possibility of a cure for those diagnosed with centronuclear and myotubular myopathy.

Please take a few minutes to watch the short film which explains about the work they do.

This film was made with the kind sponsorship of Tradeweb.

Tradeweb

An earlier film made in 2007 can be viewed below.

How I Met Your Father

This article first appeared in The Information Point newsletter Our World in 2016 when Aminah Hart told us about her book How I Met Your Father. Aminah, the mother of three children, sons Marlon and Louis who had myotubular myopathy and daughter Leila, then three years old, born after Aminah underwent IVF using anonymous donor sperm. Aminah told the Information Point about her life, her boys and the unconventional way she came to have her daughter and fall in love with Leila’s father Scott. 

Book launch

What made you decide to tell your story

The ABC’s Australian Story did a documentary about my life in 2014. After it aired, three different publishers approached me asking if I’d like to write a memoir and I thought it would be a lovely way to pay tribute to my deceased sons, Marlon and Louis and create a lasting record for my daughter Leila to read when she’s old enough given that she has quite a big back-story to her life and came into the world in quite an unconventional way.

Aminah and Marlon.

Did you have any goals for the book when you began writing it

I was very fortunate to be approached by publishers rather than the other way around. Initially I was offered a ghost writer but I am very protective of the story of my childrens lives and so I very much wanted to tell the story in my own voice and my own way although I’d never written for public consumption before. Ultimately I was offered an advance to write my story and the publisher I chose, Louise Thurtell at Allen and Unwin, was very supportive in her encouragement at the times when I worried I couldn’t do it. She assured me I’d find my voice and once I did the story would flow. This turned out to be true although it took a month of procrastination and avoidance before I got started in earnest.

Aminah and Louis.

How long did the book take to write

I signed the contract with Allen and Unwin in December of 2014 with a manuscript deadline of July 31st. I procrastinated for all of January 2015 then finally started writing on February 1st. I delivered the last section of the manuscript on July 30th, one day early!

Aminah and Leila.

Did you have a particular time of day you wrote, a number of words or chapters you wrote each day, a place you liked to write

Once I got going, I treated it like my full time job and wrote every day, sometimes for up to ten hours in a day. Sometimes the words wouldn’t come and I’d give myself a break then come back to it when I felt able.

Daddy and daughter.

How did you go about putting the book together

Thankfully I had kept fairly detailed diaries since I’d left home in Australia, for London in 1995. I also kept complete journals during both of my sons lives that chronicled every detail of our days as I never wanted to forget. I have a good memory but I would never have remembered the finer details without those records, especially the more traumatic times as they had been tucked firmly away in my emotional archive in order to cope and move forward. It was incredibly emotionally gruelling revisiting some of those tragic and painful times in my life.

Aminah, Scott and Leila.

The book is very honest and there are parts which must have been hard to write – how did you deal with writing the hard parts

It was a very steep learning curve. My mind works in a linear and methodical way having spent so many years in advertising agencies managing deadline driven projects, so I expected to start the book at the beginning and work my way through it chronologically. However the part before I was born relied on my mother’s diaries and I discovered they were written in shorthand which I can’t read so she had to transcribe those first meaning I couldn’t start where I had hoped. So I tried moving on the period of my life where I first got married and had my first son Marlon but the story wouldn’t come out. This was when I realised how I had wrapped up the saddest parts of my life tightly in little boxes and put them away in the recesses of my mind. At first I wasn’t ready to access those memories at all. Eventually I thought to myself, start with the happy part, the part where I had my healthy daughter Leila and then met her dad and fell in love. So I basically started at the end and wrote the whole thing back to front.

Once I’d had the reassurance from my publisher Louise that the quality of my writing was good, that gave me the confidence to delve into the sadder parts of my life story and put them on the page for public consumption. As you can imagine there were lots of tears and snot at times and I simply had to down tools, take myself for a long walk and let the memories filter back through my mind, as painful as that was. Hopefully it helped make the story authentic for readers as the emotions on the page are very real.

The media have focused on the back to front nature of your relationship with Scott and it is a lovely way to start, knowing the happy ending and working back, however, the book covers much more than that – how would you describe the book and what would you like readers to take from the book after they have read it

For me, it’s primarily a story of motherhood. Both my mother’s and my own. Our journeys to and of motherhood, the challenges, the potholes along the way but overwhelmingly of maternal love and lengths we will go to to protect and nurture our children who can bring the greatest of joy and deepest of sorrow to our lives. It is also the story of me. The racism I faced as a child and the strong and determined black woman I became despite it, nurtured by and within a loving family who gave me the tools I would need to face the unimaginable challenges ahead when it came to creating my own family.

Do you read yourself and if so, what do you like to read

Funnily enough I’ve always enjoyed tales of goodness and positivity coming out of difficult or challenging circumstances. The God of Small Things is an all time favourite. I also like reading stories that make me cry because invariably they make me think and look for the reasons for the tears which is where you so often find meaning. Tuesdays with Morrie is a good example.

What are you currently reading

I’m embarrassed to say I haven’t read a book since before I started writing my own. There was no spare time during the writing and there has been even less time since its release as I’ve been promoting it. The last book I read was Wild by Cheryl Strayed suggested to me by my publisher as a great example of how to write a memoir. I enjoyed it immensely and obviously it’s been a huge success.

What are the best things that have happened as a result of writing your book

The best thing that has happened has been the feedback from other people who have sent me messages from literally all over the world from India to Africa to the Americas and Asia, telling me how much my story has moved them, made them appreciate their lives and families all the more and given them hope, especially women who want to become mums but are still childless by chance and considering their options to create a family outside the box. I have replied to each and every message and each of them makes me believe that it was the right thing to do putting myself out there so personally by telling my life story.

The other thing has been getting the chance to read my story as a ‘reader’. Of course I still think of ways I could have bettered it but I sat on a plane to Japan and read my story for the first time. Whereas before it had just been the life I had lived, but in reading I understood why others see it as an exceptional life and exclaim my strength in not only surviving but being happy. These are the good things. The rest is just media!

Family of seven.

There has been a lot written about the ‘happy ending’ to your story – you are now married, mum to a happy and healthy daughter and part of a large family but how would you describe your life right now

I like to think of this phase of my life since meeting Scott as a happy new beginning rather than a happy ending as the media have positioned it. It’s the start of a family life I never thought I’d have. There was a time when I didn’t think marriage and family were possible for me and my wildest dreams never envisaged me as a stepmother to four other kids. Now we are a big family in a busy and chaotic household of seven plus the boys’ girlfriends and I couldn’t be happier. But, I am taking nothing for granted and still living in the moment as my sons taught me to and appreciating each and every happy day.

How I Met Your Father book cover.

Aminah’s memoir can be purchased at
Book Depository, iBooks or Amazon for the Kindle version.

Australian Story: view the documentary that started it all