Good news stories (part two)

2020 has been a difficult time for everyone but despite coronavirus life has been going on, so the Information Point has been on the look out for good news stories from the CNM/MTM community and in June 2020, we shared our good news stories (part one).

Want to  join in spreading some happiness too? Maybe you have celebrated a birthday, reached a milestone, received an award or honour, achieved something in your work, got good grades in school, 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 and we will share it here along with the stories above.

Andy

18 year old Andy from Farmington, Minnesota graduated from Farmington High School in May with a virtual graduation and a drive by parade with cars, trucks, bus and fire engines to celebrate.
Andy's graduation.

Announcement of Andy's graduation.


Paley

In June Paley Wood celebrated his 10th birthday. Local extended family members came by the yard to blow kisses (and bubbles) and wish Paley a happy birthday.

Paley and mum Marie.

Paley

Will

On 14 June 2020 the Ward family took part in the virtual Eversource Walk for Boston Children’s Hospital.

Will with mum Erin and dad Mark.

2020 was Will’s 12th year leading a team for the Beggs Lab. During this time he has raised $148,500 for congenital myopathy research at the Beggs Lab, Boston Children’s Hospital, with the the support of his marathon partner of 15 years, Kate McQuade Maul and friend Carol Chaoui, making Will at the top of the leader board another year.

Will Ward - Miracle Maker.

This year participants were invited to walk at anytime,  where they were, do a short walk or long walk and post a picture of support for Will’s Team and the Beggs Lab on Facebook.

Little big talents

The Polish non profit organisation Fundacja Oswoić Miopatie recently produced a short film titled ‘Little Big Talents’.

Little big talents image.

Nawrat Dorota from the organisation says ‘Only a few children who are struggling with such a cruel disease as myopathy on a daily basis. But despite all the adversities, they show the whole world that they can also create masterpieces, surrounded by the love of their loved ones, having dreams worth fighting for and realizing. They are wonderful little children, for whom the fight for health/life intertwines with happy moments of childhood. Drawing pictures they move to another magical world, the world that smiles at them, the sun shines only for them, and joy is omnipresent. In the pictures we see smiling figures who like a fairy tale invade their little hearts, awakening in them a sense of security and love. The pictures show us that despite their illness, they are normally developing children.’

Reilly

In June Reilly Wilson finished Pine Ridge Secondary School in Toronto. He was in the graduating class of 2020 and received a recognition award for personal excellence – acknowledging his exceptional contributions to the school and for overcoming obstacles to achieve personal success.

Reilly

reilly-1

 

 

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

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

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.

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

Tommy

Tommy Newman from Rhode Island is celebrating his 13th birthday on 22 June and he’s made honor roll all year too. Happy birthday and congratulations Tommy.

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, North 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.

Milosz

In September 2019  the Leski family began the process of arranging for a power wheelchair for their son Milosz but due to coronavirus, the charity were unable to fund all of it and the family set to work raising the money themselves, so that Milosz could have the wheelchair before he starts secondary school in September.

Milosz

In May the family set up a GoFundMe page and with the help of Milosz’s friend Stanley, who set himself the challenge of raising £2,000 by running a marathon, running a mile every day for 26 days, they exceeded their total within a week

The new wheelchair will enable Milosz to be independent, moving around his new school, going outside and meeting friends in a way most people take for granted.

Want to  join in spreading some happiness too? Maybe you have celebrated a birthday, reached a milestone, received an award or honour, achieved something in your work, got good grades in school, 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 and we will share it here along with the stories above.

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.

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.

 

Dynacure logo.

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.