An announcement from Toni: founder of The Information Point and The Big Sunflower Project

After almost 20 years, Toni Abram, founder of The Information Point and The Big Sunflower Project, will be stepping down from her roles at the end of this year. Below she writes about her work over the last twenty years and shares some of her favourite photos.

I established The Information Point in 2001 following my dad and I being diagnosed with centronuclear myopathy in 1998. Like so many with centronuclear and myotubular myopathy, the journey to diagnosis was not an easy one. I had seen three doctors over a period of ten years but my symptoms were mild and I went without a diagnosis until dad began to experience problems in his 50’s.

I remember receiving the diagnosis felt overwhelming and lonely – we were told there were very few others in the world with our illness, nor was there a treatment. So, when I established The Information Point in 2001, the aim was to provide a website dedicated specifically to centronuclear and myotubular myopathy, where people could visit to find all the information they needed in one place, in the early days of diagnosis and beyond – helping others in their search for information; bringing those with the conditions together, whatever their age, whatever form of the conditions they had and wherever they may be in the world; and raising awareness of them.

Specific information about centronuclear and myotubular myopathy was posted on the website, together with information about other myopathies and news about centronuclear and myotubular myopathy from around the world. Areas for research news and resources were also developed, together with a ‘share a story‘ area for all forms of the condition, including unknown patterns of inheritance. And a newsletter, the predecessor to Our World, published stories of interest to the centronuclear and myotubular myopathy community, including a series of interviews titled All About Me which aimed to give people the opportunity to discuss their diagnosis and how they dealt with it, as well as the opportunity to talk about the things that made them, such as their favourite books, films and music; what their favourite childhood memory was; who most influenced their life and why. The interviews aimed to show that a disability didn’t have to define a person and that a person with a disability was still just a person.

Pages were set up on social media and an online shop was opened to raise funds for research also. Now maintained directly by the Myotubular Trust, rarely a day goes by where a donation isn’t received by someone shopping at the Myotubular Trust Easyfundraising eStore.

In 2012 the first Our World newsletter was published. It provided an opportunity to not only share the latest research and fundraising news but to give those with centronuclear and myotubular myopathy the opportunity to have their voice heard, by telling their stories, about their lives, their way – achievements, milestones, fundraising events and more, which today has led to an amazing resource for families in 2020 and beyond receiving a centronuclear or myotubular myopathy diagnosis. 

The Big Sunflower Project first invited people to grow sunflowers in 2011. I have always loved the way that sunflowers grow to such dizzy heights, as if they are on a mission to touch the sky and nothing can hold them back. It occurred to me that many charity fundraising/awareness raising type projects involved people doing something physical – being sponsored to run, swim, climb or bicycle, something that even I, although ambulatory, would not be keen to do. However popping a seed in a pot and nurturing it for a few weeks was something most people could do, whatever their physical ability and that was very appealing to me, because it meant that those diagnosed with centronuclear and myotubular myopathy could take part too.

The idea was simple – give away sunflower seeds to raise awareness of centronuclear and myotubular myopathy and ask people to share photos of their sunflowers online. The project was only intended to last for one year but this year sunflowers were grown for the tenth summer.

Over the past ten years, 4,766 photos have been shared, all of which have been posted on social media to raise awareness of centronuclear and myotubular myopathy. Participants have joined the project from across the UK, Ireland, the Isle of Man, the USA, Costa Rica, Argentina, the Philippines, Australia, New Zealand, Germany, The Netherlands, France, Croatia, Hungary, Sweden, Austria, Lithuania, Greece and Poland.

As the project grew, around 300 packets of seeds were distributed each year, with seeds sent to those affected by centronuclear and myotubular myopathy, together with schools and nurseries, community groups, groups who work with disadvantaged people, hospices and youth groups to name a few, so as well as raising awareness of centronuclear and myotubular myopathy, the project supported the activities of these groups too. 

Run from my home, in my spare time, neither The Information Point or The Big Sunflower Project had charitable status and I came to describe them as voluntary, non profit organisations, with charitable aims, run at a grassroots level, when needing to explain what they did. As such neither group received any regular funding, rather funding was sought as and when required, all of which was ploughed back into the work of the groups. On one occasion The Big Sunflower Project undertook a crowdfunding project and on other occasions competitions were entered – success with the Galaxy Hot Chocolate Fund and the Skipton Building Society Grassroots Giving initiatives ensured that enough money was incoming to cover running costs. Banks, supermarkets and more assisted with financial donations and other organisations donated their products, services, time and expertise.

Deserving of a particular mention are Net-work Internet who in 2006 began sponsoring The Information Point and have provided the web hosting and domain name at no charge ever since. Also Extravision, who provided The Information Point with their email marketing service free of charge for many years, meaning Our World could be sent quickly, easily and professionally. All the companies who provided sunflower seeds at no charge or with large discounts, helping make the most of limited resources; the lovely sunflower growers who so kindly took the time to harvest their seeds and donate these to the project and all the individuals who donated money that kept things ticking over. You all rock and The Information Point and The Big Sunflower Project would never have happened without you.

Working on The Information Point and The Big Sunflower Project has been an incredible experience. I have learned so much and it has been a joy getting to know so many people from the centronuclear and myotubular myopathy community in the process. Deciding to step back hasn’t been an easy decision but the time to focus on other things in my life has come … at least for the time being.

It is said that it takes a village to raise a child but I believe it could also be said that it takes a village to achieve everything that has been achieved within the centronuclear and myotubular myopathy community over the last 20 years too – from little known rare conditions to clinical trials is no mean feat.

There are now many wonderful big hearted people working behind the scenes, making many wonderful things happen for the community worldwide – people who understand only too well what it means to live with a diagnosis of centronuclear and myotubular myopathy, because their own family is, or has been impacted by the conditions and who I know will appreciate any support you can offer in the years to come. So please, do what can, when you can, if you can, to support them; continue to share your stories; be kind to one another … and if you see a sunflower, please think of me.

Dynacure news 2020

Clinical trial recruitment

Unite-CNM, the Dynacure sponsored clinical trial of their antisense product, DYN101, began recruiting in early 2020 at sites in the UK, Belgium and Netherlands, with an additional five European sites to follow.

Pre-clinical studies have shown that ‘turning down’ Dynamin 2 can reduce the symptoms of centronuclear myopathy, so the clinical trial will evaluate DYN101 for safety, tolerability, pharmacokinetics (how the drug works around the body) and preliminary efficacy (the effect on symptoms). It will include approximately 18 patients, who are over 16 years of age and have XLMTM or DNM2 mutations.

Further information about the trial, including inclusion and exclusion criteria, site location, recruitment status and contact details can be found below.

March 2020

Dynacure announces first patient dosed in phase 1 / 2 ‘UNITE-CNM’ Study of DYN101 for the treatment of centronuclear myopathies 

In March, Dynacure announced that a patient had been dosed with DYN101. This milestone marks the first time any company has dosed a CNM patient with an antisense medicine.  For further information view the press release below.

April 2020

Dynacure Announces €50M ($55M) Series C Financing

In March, Dynacure announced €50M ($55M) Series C Financing. The funding will support ongoing Phase 1 /2 ‘Unite-CNM’ study of DYN101 in patients with centronuclear and myotubular myopathy.

May 2020

Dynacure announce that circulating myostatin levels are altered in centronuclear myopathy mice and patients and myostatin levels respond directly to DNM2-therapy in mice. Myostatin is now currently being explored as a biomarker in our Unite-CNM clinical trial.

July 2020

In July the first two patients were dosed with investigational drug DYN101 in UNITE-CNM trial and Dynacure CSO Belinda Cowling was also named a finalist for the EU Prize for Women Innovators 2020.

Dynacure also received rare pediatric disease designation from the US Food and Drug Administation for DYN101 for myotubular and centronuclear myopathies.

Dynacure logo.

Myotubular Trust news

The Myotubular Trust 2020 grant call

The Myotubular Trust 2020 grant call is now open and scientists from around the world are invited to apply for a research grant.

Medical research image.

The goal of their work must be to help find a cure or treatment for any of the forms of myotubular and centronuclear myopathy. Read more about the grant call below.

Completed applications must be received by 5pm on Friday 26 June 2020. It is anticipated that awards will be made in early September.

UK patient webinar

On Saurday 4 July 2020, Myotubular Trust will be hosting a patient update webinar.  Join in from the comfort of your own home, using a computer, tablet or phone.

Speakers on the day are:

  • Professor Francesco Muntoni, Professor in Paediatric Neurology and UK Investigator for ASPIRO the gene therapy trial
  • Professor Ros Quinlivan, Consultant in Neuromuscular Disease and Investigator for UNITE-CNM, the antisense therapy trial
  • Dr Giovanni Baranello, Honary Consultant in Paediatric Neurology/Neuromuscular Disease and UK investigator for the Tamoixfen clinical trials

Topics will include:

  • Covid 19 in neuromuscular disease patients – what’s been learnt
  • Clinical trials update – the latest on gene therapy, antisense therapy and drug repurposing trials in the UK
  • Questions and answers from the patient community

You must register if you would like to attend. Please email melaniespring@myotubularmyopathy.org to receive a personal Zoom invite and instructions on how to join.

Further information

For further information about this event visit the Myotubular Trust website.

Webinar announcement.

Myotubular Trust logo

Good news stories (part one)

2020 has been a difficult time for everyone but despite coronavirus life has been going on, so we have been on the look out for good news stories from the CNM/MTM community.

Want to  join in spreading some happiness? Maybe you have celebrated a birthday, reached a milestone, received an award or honour, achieved something in your work, passed an exam, completed a degree, graduated or something else? If you have good news, please share it with us together with a photo, by sending an email to cnmmtminfo@gmail.com so we can celebrate with you.

Rian

In April, Rian from Cork, celebrated his 10th birthday with a surprise visit from the emergency services.

Members of Cork City Fire Brigade, the Roads Policing Unit, the Community Policing Unit and the Garda Dog Unit gathered outside Rian’s home and sang him Happy Birthday. Garda Pat Harrington also offered Rian the opportunity to go on patrol of the local neighbourhood with him and his garda dogs, Laser and Rex, once the coronavirus restrictions have been lifted and Rian’s school friends joined in the celebrations over video call.

Amy

Amy was diagnosed with centronuclear myopathy, Dynamin 2 mutation at the age of 16. She recently completed her Digital Photography degree at the University of Chester after three years of hard work.

Amy

During very challenging circumstances Amy had to roll with the punches, going from putting up an exhibition at the start of the year to designing an online one, the concept of which was the  ancient gods and how different society was today.

Gods of Modern Day is a series of Fine Art portraits that depict Greek Gods in contemporary scenes.  Dionysus, the God of Wine, is depicted in a Night Club setting whilst Demeter, the goddess of harvest, is seen perched on a hay bale within a crop field presenting a fast food cup instead of her traditional wheat or torch. Ares, the God of War has been depicted against the ruins of Athens,  he yields a wooden slate instead of a spear and a baseball cap and heavy eye make up instead of his typical helmet.

View the Identity exhibition and Amy’s portfolio can be seen below.

Spencer

Spencer is a cum laude graduate from Central Bucks High School West in Doylestown, PA. He has worked very hard to achieve this accomplishment. He is currently 19 years old and will remain at Central Bucks West High School Post -12 to study computer programming.

Corey and family on graduation day.

Wicktor

Wiktor from Poland is five years old – he is diagnosed with myotubular myopathy and loves to draw.  We absolutely love Wicktor’s smiley work.

Illustration by Viktor.


Logan

Logan is 8 years of age and in the 2nd grade of  Alamance Elementry in Greensboro, South Carolina. This year he has made much progress in school and in June he was named Mr Congeniality by his teacher Miss McAmis.

Logan with Mr Congeniality certificate.

Anthony

On 10 May, Anthony from Monroe, Connecticut celebrated his 19th birthday.  Each year Anthony’s family celebrate his birthday with a big birthday bash and they were not going to let coronavirus stop them, so celebrated with a drive by celebration.

People were encouraged to honk and be as crazy as they wanted as they passed in cars and on floats.  There were posters and decorations and local fireman attended with  sirens and lights in their cars, while Monroe police directed the traffic to ensure the event went smoothly.

Anthony's birthday celebration.

Anthony's birthday celebration.

The Big Sunflower Project (mid year report)

2020 is the tenth year of The Big Sunflower Project and a milestone event for the little project, which originally was only meant to last for one year.

Dwarf sunflowers growing in wellington boots.

Obviously, no one expected the coronavirus situation and in March seed distribution was suspended.  We tentatively re-started in April and during late April and early May, were able to get some final batches of seeds safely in the post. Recipients included children currently home from school, schools that remained open to the children of key workers, a charity that supports people recovering from homelessness and addiction, a specialist worker for the Early Help and Prevention Service, an allotment project for children and adults with additional support needs, Enable Scotland (a charity which works with people who have learning disabilities), a residential home for older people with dementia and a hospital caring for a child with myotubular myopathy.

Sunflowers growing at Westminster Primary School.

Our intention at the beginning of the year had been to distribute 300 packets of seeds and we now know of over 290 people participating in the UK, on the Isle of Man, France, Greece, Germany, Sweden,  Australia and the Philippines, so we are feeling a tiny bit proud of ourselves for getting so close to our target at this difficult time. 238 places are currently plotted on the project map which can be viewed below. Click anywhere on the map to open it up and click a sunflower to learn about the people growing sunflowers in a particular location.  If you are growing sunflowers but cannot see yourself on the map, please ask to be added. As always, we wholeheartedly welcome anyone who grows sunflowers to take part in the project, even if they did not obtain their sunflower seeds from us.

In addition to posting seeds out, seeing as we had been thrown a curve ball, we decided to do a few things differently this year too.

Earlier in the year the project received a large donation of vegetable seeds. During the first three months of the year, these were sent together with sunflower seeds, to anyone who applied to the project and advised they had an allotment or stated they wanted seeds for a gardening club but from late April onwards, we began to give away our sunflower and vegetable seeds locally and we planted dwarf sunflowers, peas, cucumbers and runner beans and gave small plants away too.

Free seeds and plants.

Secondly, we decided to send seeds to schools we knew were still open for the children of key workers.  We thought being a small person with all this chaos going on right now, together with not being able to be with your friends and watching your parents go off to work each day must be quite a scary time, so decided to send a few surprise packages to schools, in the hope it would bring some cheer, make the children feel a bit special and give them something to look forward to – hopefully staff and parents would get some enjoyment from seeing the sunflowers too. It has been very lovely to hear from some of the schools and other recipients that the seeds and plants have been well received.

Jen and Holger planting sunflower seeds.

ZNM-Zusammenstark! e.v. 

This year the project is once again being joined by ZNM-Zusammenstark! e.v. growing sunflowers in memory of Emil, who was diagnosed with myotubular myopathy and sadly passed away in 2016.  Founded in 2015, ZNM-Zusammenstark! e.v. is a German association for those affected by centronuclear and  myotubular myopathy. Visit their website to read what they have to say about being part of The Big Sunflower Project.

Bear watering sunflowers.

In the news

The project has received some lovely publicity this year which can be read below and we are incredibly grateful to those who have taken the time to write about what we do.

Sunflowers growing at Spitalfields Crypt.

Resources

If you are  using your sunflower seeds for educational purposes, fundraising events or would like to raise awareness of centronuclear and myotubular myopathy at the place where you are growing your sunflowers, you can download flyers from the resources area of the website. You will also find resources for teaching children and to start conversations about equality and diversity.

Make a donation

The Big Sunflower Project is an initiative of The Information Point for Centronuclear and Myotubular Myopathy. The aim of the project is to raise awareness of the rare neuromuscular conditions known as centronuclear and myotubular myopathy, by sending seeds to people who have never heard of the conditions and requesting photos in return, which are shared in the Information Point newsletter and on the project social media pages, again raising awareness of centronuclear and myotubular myopathy. There is no charge for project seeds or the cost of postage, the project does however, welcome donations to ensure the future of the project and to enable seeds to be sent to as many people as possible each year. If you have donated for your seeds, thank you. If you would like to donate, you can learn more about how to do this below.

Our friends

This year project seeds have been donated by Thompson and Morgan and Tamar Organics. Seeds were also donated by Mike Rogers, Linda Fowler and Flower Power Lymo who grew sunflowers during the 2019 project and saved their seeds.

We are also grateful to everyone who has donated to The Big Sunflower Project since 2011, enabling us to celebrate our 10th anniversary.  You can read about these people below.

Looking forward to seeing everyone’s sunflower photos over the summer. Until then  stay safe everyone.

Planting sunflower seeds in Birkenhead.

Further information

Further information about the project can be found on The Big Sunflower Project website and on social media, where photos can be shared using #TheBigSunflowerProject. Use #centronuclear, #centronuclearmyopathy, #myotubular and #myotubularmyopathy to help raise awareness of centronuclear and myotubular myopathy too.

 

Powerwheelchair for Milosz

Milosz lives with his family in Market Harborough, Leicestershire and is diagnosed with X-linked myotubular myopathy. Over the last six months Milosz’s needs have changed and he now requires a specialised powered wheelchair.

Milosz

Milosz’s manual wheelchair has become too small to him and the back support is no longer efficient. In addition, Milosz had developed mild scoliosis which requires specialised back support. And while Milosz can self propel his manual wheelchair indoors, he relies on people to push him on longer journeys outdoors. As a pre teenage boy, Milosz craves some freedom and a powered wheelchair would enable him to be more independent.

Milosz’s family began the process of arranging for a power wheelchair in September 2019, applying for one through a charity but due to coronavirus, the charity were unable to fund all of it and organising fundraising events at this time is difficult, so the family are now aiming to raise the £6,700 needed themselves, before Milosz starts secondary school in September.

Stanley

Milosz’s friend Stanley is helping to fundraise also, by running a marathon. Starting on 26 May Stanley began running a mile every day for 26 days and is aiming to raise £2,000.

Could help fund this essential piece of equipment for Milosz? Please visit the websites below to learn more and donate.

Female carriers of x-linked myotubular myopathy invited to join a new study

A new European study, led by Dr Nicol Voermans of Radboud University Medical Centre, The Netherlands, is looking into the possible muscle symptoms in female carriers of myotubular myopathy. The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus manifesting and confirmed female carriers too.

Bhawana with Wendy and Anne from the Myotubular Trust.

Dr Voermans has a special interest and expertise in congenital myopathies and the study team consists of Professor Ulrike Schara, Essen (Germany), Professor Heinz Jungbluth, London (UK) and Dr Carsten Bonnemann, NIH (USA).

This study concerns all female relatives of boys and men with the x-linked form of myotubular myopathy whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins, with the aim being is to visualise the entire spectrum of symptoms in carriers.

The study consists of a number of digital questionnaires which you can fill in at home. A possible follow up of this study will be performed in the future, when the coronavirus situation allows it. The follow up would consist of some simple neurological tests.

The results of the study will give a better understanding of the disease and improve the health care for female carriers. In addition, it can contribute to clinical trial preparedness.

To be able to participate in this study, you must be 18 years or older and you must be able to fill in the digital questionnaires. This study is currently limited to Europe.

If you are interested in participating and would you like to receive more information about this, email congenitalemyopathie.neuro@radboudumc.nl to express your interest.

Hospital

On 12 March 2020 an episode of the programme Hospital featured Hari, a child diagnosed with myotubular myopathy. The programme followed Hari’s story and was about situations that cause hospital beds to be blocked.

Hari with dad Michael and mum Ellen.

For the last ten years, NHS staff have been working to meet the ever-rising demand of patients coming through the front door but increasingly, there is another pressure – after they admit a patient to hospital and have treated them, how and when will they get them out again?

With NHS ‘bed blocking’ numbers at their highest level since 2017, for those who are medically fit to leave, multi billion pound cuts to social and community care services have left a shortage of care home beds, equipment, staff and housing, effectively stranding these patients in hospital. With a duty to oversee safe discharges, this leaves the NHS no choice but to keep these medically fit patients in hospital.

Nationally every year, 330,000 patients are staying in hospital for more than 21 days. To the NHS, these people as known as ‘super stranded’. Hari is one of these patients.

Research award for Tamoxifen clinical trial in the UK

The Myotubular Trust has recently joined forces with Great Ormond Street Hospital Children’s Charity and Sparks, the children’s medical research charity to co-fund a clinical trial, following a joint research grant call in 2019.

Studies funded by Myotubular Trust grants between 2014 and 2016, discovered that Tamoxifen, an anti-cancer drug, can significantly improve the symptoms associated with x-linked myotubular myopathy. Tamoxifen also has the benefit of having low side effects in both adults and children. It is not costly, is widely available and is already being taken safely by children for a range of other conditions.

The aim of the grant award is to prepare for and run a clinical trial to test how well Tamoxifen works in improving motor and respiratory function. The trial will be led by Dr Giovanni Baranello, and Professor Francesco Muntoni, at the University College London (UCL) Great Ormond Street Institute of Child Health. If the study is successful, it could provide the first widely available therapy for myotubular myopathy, either as a stand alone treatment for patients not eligible for gene therapy or other treatments, or as a valuable additional treatment.

Funding the preparation

New research grants take time to get up and running, particularly when they involve the complexity of setting up a clinical trial team. Therefor Myotubular Trust has already made a second, separate grant to the great Ormond Street Hospital research team. This grant funds a clinical trial co-ordinator who is already working on the regulatory and ethical paperwork and processes to ensure that the trial can begin as soon as possible.

Current grant has already funded the work of identifying the dose of Tamoxifen

Before a clinical trial can begin in humans, work needs to be done to decide what dose of a drug will be both the safest to take and the most likely to work. The Myotubular Trust 2018 – 2020 grant to Dr James Dowling at Sick Kids Canada has already funded this ‘dose finding’ work, ready for the trial to begin both in the UK and in the US and Canada too.

For further information about this grant, visit the Myotubular Trust website below.

Myotubular Trust logo

Great Ormond Street Hospital Charity and Sparks logo.