Fundraising for Rubén

Rubén (Roo) is one year old. He lives in the UK and is diagnosed with myotubular myopathy.  Earlier this year his mum Siân held a hugely successful fundraising event for Myotubular Trust, attended by more than 230 guests who came out to celebrate Rubén.

Fundraising for Ruben.

Fundraising for Ruben.

Siân says ‘We wanted to do something to give back to the Myotubular Trust for all of their much needed support since Rubén’s diagnosis. We wanted to do something where we could get all of our friends and support together under one roof and celebrate them too and that is what we did.

We had over 230 people pass through the doors and hand over their pennies and pounds for multiple chances at winning amazing prizes, auctions and more and boy did they spend. Everyone had the most amazing night and there was a sore head or ten dozen come the morning. We all enjoyed it so much, I think we will make it a regular occurrence. Money well spent, for such a special charity.’

If you would like to learn more about how to fundraise for Myotubular Trust or about how they spend the money that is raised in their name, visit the Myotubular Trust website.

The RECENSUS Study of Patients with X-Linked Myotubular Myopathy (XLMTM)

The second RECENSUS manuscript entitled ‘Mortality and Respiratory Support in X-linked Myotubular Myopathy: A RECENSUS Retrospective Analysis’ was recently accepted by the journal Archives of Disease in Childhood and the full text published  online as an open access article. Below Kimberly Trant, Senior Director of Patient Advocacy and Engagement at Audentes Therapeutics writes about the study.

RECENSUS is one of the largest natural history studies of patients with XLMTM. This means that, with approval from patients and their families, researchers have collected medical records on 145 patients and reviewed them as a group to help understand their symptoms, their medical treatment, and the course of their disease.

From prior studies, we know that nearly half of children with XLMTM do not survive past 18 months due to respiratory failure, and those who survive typically require respiratory and feeding support, and never sit without support or walk on their own. To ensure that patients get the best care possible, it is important that they obtain a timely diagnosis. This can be more difficult in rare diseases, like XLMTM. Data from studies like RECENSUS help medical professionals recognize the signs and symptoms, request the appropriate diagnostic tests, and then provide patients with the best options possible.

The first analysis from RECENSUS (Beggs and colleagues, 2017) looked at patients’ burden of disease and their medical treatment. Here’s what we learned.

  • The average age at diagnosis was at three years old (36 months), which is decreasing over time.
  • Nearly all (90%) XLMTM patients required respiratory support at birth.
  • 60% of patients had a tracheostomy.
  • 48% of patients were dependent on ventilator support 24 hours per day.
  • In their first year of life, affected children had an average of 3.7 surgeries and spent 35% of the year in the hospital.
  • A substantial number of mothers reported signs of XLMTM during pregnancy, including decreased fetal movement (53%), polyhydramnios (excess amniotic fluid; 52%), and premature birth (31%).

The second analysis from RECENSUS (Graham and colleagues, 2019) looked at how respiratory support relates to survival, especially for younger patients. Here’s what we learned.

  • The most common cause of death was respiratory failure (67%), despite nearly all patients having respiratory support from birth.
  • Patients with a tracheostomy lived much longer than those without a tracheostomy (22.8 years vs 1.8 years) on average.
  • By six months old, only 50% of patients were living without a tracheostomy; by two years old, this number fell to 28%.

Audentes Therapeutics sponsors and runs the RECENSUS study. Audentes thanks the patients and families with XLMTM who allowed their data to be collected for the RECENSUS study. We are also grateful for support from the XLMTM patient advocacy community: The Joshua Frase Foundation; MTM-CNM Family Connection; the Myotubular Trust; Where There’s a Will There’s A Cure Foundation for Myotubular Myopathy; and ZNM – Zusammen Stark! 

References:

  1. NCT02231697 – A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (RECENSUS). Available at https://clinicaltrials.gov/ct2/show/NCT02231697. Accessed October 14, 2019.
  2. BeggsAH, Byrne BJ, De Chastonay S, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study. Muscle Nerve. 2018;57:550. Available at  https://doi.org/10.1002/mus.26018. Accessed October 14, 2019.
  3. GrahamRJ, Muntoni F, Hughes I, et al. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis Archives of Disease in Childhood. Sep 4 [Epub ahead of print]. Available at http://dx.doi.org/10.1136/archdischild-2019-317910. Accessed October 14, 2019.

Audentes logo.

Milosz’s flying experience

Milosz is diagnosed with myotubular myopathy. He recently had the opportunity to fly a glider. Below Milosz’s mum Monika, writes about Milosz’s flying experience.

Milosz standing next to glider.

Milosz is a clever, funny and strong-willed boy who lives with his family in Market Harborough, Leicestershire.  Milosz was born with a very low muscle tone and at the age of four, he was diagnosed with X-linked myotubular myopathy.

Now, Milosz is a 10 year-old boy who attends St Joseph’s Catholic Voluntary Academy in Market Harborough. He is a very bright student who, in spite of missing some school days due to hospital appointments, physiotherapy and illness, always meets the expectations or is above.

Milosz with glider.

In 2017, when it became apparent that Milosz would benefit from the lightweight wheelchair, we applied to the Variety Charity to get some funding for it. It was an amazing event as the whole of Milosz’s school, Market Harborough’s community, as well as the Variety Charity, contributed to getting Milosz’s new wheels.  You can read the full story below.

Two years after the wheelchair funding, Tony Cadwallader from Variety Charity who lives in the same town as Milosz, contacted us to ask if Milosz would like to visit a local Gliding Centre at Husbands Bosworth to help with the ideas for how to adapt it for the kids with mobility issues.

We booked the date and met with Tony at the centre. After a detailed tour when Milosz could sit in different gliders and have a go in the simulator, we were told that Milosz can fly a glider. Milosz was excited and at the same time scared. The excitement won and that was the first time he had a chance to fly the glider and even navigate it under a caring eye of Paul Howard, the instructor.

Milosz in glider.

The feeling was amazing both for him and for us, the parents. It was heart warming to look at Milosz flying away from us, enjoying his life without our constant presence. When Milosz finally landed he quietly said that this was the best time of his life. Seeing Milosz’s happiness and excitement Paul said that we can arrange another flying experience for Milosz.

The people at the Gliding Centre in Husband Bosworth are amazing, they are enthusiastic about flying and enjoying life with passion. Their dream is to be able to inspire the kids with a disability to see that ‘the sky is the limit’; they would love to help kids to experience something new and maybe develop a new passion for flying and … life.

Milosz’s second flying experience was scheduled for October half-term. This time Milosz was very excited and happy, he couldn’t wait to be in the sky again. Once more I was touched seeing him flying away from me, being free, enabled and content.

Milosz

Milosz would love to continue with his newly discovered passion. The instructors are happy to help him fulfill his dreams and are willing to schedule some more flights. Unfortunately, the Variety Charity is no longer involved in funding the adaptations and the Gliding Center is not suitable for the kids with mobility issues. At the moment Milosz can take a few steps to the glider and then two people will lift him into the glider but when he is older and heavier this might not be possible.

The Gliding Centre at Husband Bosworth is such a warm, welcoming and inspiring place, now it is the matter to find some funds to allow everyone to enjoy this amazing place.

Further information

Dynacure: official opening of new laboratories

Dynacure is a clinical stage drug development company focused on improving the lives of patients with rare and orphan disorders. The organisation recently opened new offices to house their research and development work.  Below, Marion Depla, a Research Scientist at Dynacure writes about the new facilities and the opening event.

Dynacure opening ceremony.

Dynacure CEO, Stéphane Van Rooijen explaining research focuses at Dynacure.

Dynacure has recently received Clinical Trial Application (CTA) approval for DYN101, an investigational antisense medicine designed to modulate the expression of Dynamin 2 (DNM2) for the treatment of centronuclear myopathies (CNM). The organisation expect to initiate its first in human study, a Phase 1 / 2 study ‘Unite-CNM’, by the end of 2019.

On 23 October, Dynacure officially opened its new laboratories at Bioparc 3 in the Parc d’Innovation, near Strasbourg, France. These facilities will house research and development activities at the cutting edge of clinical stage drug development.

Dynacure opening ceremony.

Dynacure Research Scientist, Marion Depla explaining The Big Sunflower Project.

To highlight this occasion, Chief Executive Officer (CEO), Stéphane Van Rooijen and Dynacure Chairman, Georges Gemayel symbolically planted the first sunflower seeds in the presence of the Strasbourg scientific community, local officials and key collaborators and investors.

Dynacure opening ceremony.

Dynacure CEO, Stéphane Van Rooijen and Dynacure chairman, Georges Gemayel watering the first sunflower seeds.

Dynacure is honoured to be part of the 20th year of The Big Sunflower Project, led by Toni Abram. We are grateful to Toni and the CNM patient community and are committed to raising awareness of centronuclear and myotubular myopathies.

A new star is born in Italy

Daniele Oliveri is the President of a new patient organisation in Italy called FIMM.  His son Francesco is diagnosed with myotubular myopathy.  Below Daniele writes about his reasons for founding FIMM and what he hopes the organisation will achieve in the future.

Daniele and son Francesco.

Daniele and son Francesco.

The first time I thought that it could be useful create a patients association, was a couple of years after my son Francesco’s birth, when I met for the first time some other European patients associations, joining their families conferences.

At least four years have been passed from that period and now, finally, I’m really proud to announce that the first Italian patients organisation totally focused on myotubular and centronuclear myopathies has been officially founded.

Mare, Francesco and Mattia.

Mare, Francesco and Mattia.

Our name is FIMM, is an acronym of Famiglia Italiana Miopatia Miotubulare e Centronucleare (myotubular and centronuclear myopathies Italian family), our logo contains obviously the Italian flag colours and our catchphrase is ‘mano nella mano verso la cura’ (‘let me leave it’ in Italian).

We are just born and we have to grow up and learn but our inner motivation is really strong and we are ready to learn even from other patients organisations experiences.

Our mission is to increase MTM/CNM disease ​awareness, in order to speed up the diagnosis and to improve the disease management, create a patients families network in order to give help, share information and experiences with each other and in general share the acquired knowledge. Another important target is to support research to find a  possible cure.

We will find the inspiration and the strength to go ahead from our patients, and we will work all together saying always aloud “mano nella mano verso la cura”.

FIMM logo

Graduate researcher

Allison Welter from Farmington, Minnesota has recently featured in a short film about the Graduate Research Programme (GREP) at the Mayo Clinic Graduate School of Biomedical Sciences. Her younger brother Andy is a high school senior and is diagnosed with myotubular myopathy – you can read about Andy in this issue of Our World too.

Since the age of 12 Allison knew she  wanted to discover drugs and therapies to treat or cure diseases like her brother’s. Her experience includes a freshman scholarship known as the Blugold Fellowship, at University of Wisconsion-Eau Claire, a programme designed to carve out undergraduate research opportunities for students as soon as they enrol, during which she spent more than three years studying plant genome sequencing. In addition. Allison secured a summer internship at Boston Children’s Hospital and Harvard Medical School, where she assisted in a lab that studies myotubular myopathy.

Allison says ‘Doing undergraduate research at University of Wisconsin-Eau Claire helped prepare me to be more independent working here at Mayo Clinic. I felt more comfortable being an independent scientist after doing research for so long and the time in Boston allowed me to network with the amazing Harvard faculty. It was a really great experience.’

Since the film was made, Allison has moved on to her Ph.D. studies in molecular pharmacology and experimental therapeutics.

Further information

Read more about Allison below.

The power of four

Andy Welter lives in  Farmington, Minnesota with his mum Amy and dad Matt. He is diagnosed with myotubular myopathy.

A senior at Farmington High School, Andy loves football and in September, was given the opportunity by the captains of Farmington’s football team the Tigers (Hunter Hedlund,  Luke Weierke, Jack Baumbach and Jake Nelson), to serve as the flag bearer, leading the team onto the field ahead of the team’s home opener. Andy was also an honorary captain for the game, which the Tigers won 49-14.

Andy with mum Amy and dad Matt.

Andy with mum Amy and dad Matt.

Traditionally a member of the student body is chosen to serve as the flag bearer but the four team members felt those students were only chosen from the ‘popular’ crowd. Hunter, Luke, Jack and Jake wanted to change that and they had a particular person in mind for the honor.

On 6 September, Andy, wearing a Tigers jersey and carrying the flag with the help of his mum, led his high school football team onto the field.  

Andy carrying the flag.

Andy carrying the flag.

Amy says ‘Andy was just so proud of carrying that flag and enjoyed every moment of the experience, from leading the team out, to serving as an honorary captain on the field for the coin toss. He stood alongside the players during the national anthem (one of his favorite things) and watched the game from up close.’

Many of Andy’s family were in attendance on the night to cheer him on during his moment and when the captains met at midfield for the pre-game coin toss, Jack Baumbach introduced Andy as ‘my boy, Andy.’ Amy says ‘My heart melted. I’ve never had somebody really respond to Andy like that, and it just meant a lot. There’s no words for how amazing it was for us. It was like a Make-a-Wish. Andy was finally part of a team.’

Andy on the field.

Andy on the field.

Amy explains ‘In elementary school, Andy was part of a group that helped him to get to know other kids and vice versa but things changed as he got older and one day during sophomore year, when Andy wheeled up to a table, all the children  got up and left. After that, he really didn’t want to always come to school. Then these four amazing guys came along and changed senior year for him’.

Fist bumps.

Fist bumps.

‘After suggesting Andy be a flag bearer, the four captains visited him at home to get to know him better. Andy is now back to enjoying school. He loves saying hi to ‘the guys’ and giving fist bumps as he rolls by. And he now has friends to sit with at lunch – one of the highlights of his day. Andy is now established as an integral part of the student body. After serving as a flag bearer, classmates know who he is and acknowledge him in the hallways. At a recent pep fest, he sat with the football team.’

Andy and team captains.

Andy and team captains.

Amy says ‘The captains make a point to credit their entire team with welcoming in Andy but I know that only happened because four senior classmates got the ball rolling.’

The Big Sunflower Project 2019 (end of year report)

2019 was the ninth year of The Big Sunflower Project. This year seeds were sent across the UK and to The Netherlands, Germany, Hungary, Sweden, Lithuania and Germany. Sunflowers were also grown in Canada, the USA and Argentina. For the third time the project was joined by people growing sunflowers in memory of Emil, who was diagnosed with myotubular myopathy and sadly passed away in 2016. And for the first time sunflowers were grown in Australia, for George who has myotubular myopathy.

Sunflower growing season is now over in the UK but if you are in a part of the world about to get its summer, please consider buying a packet of seeds and growing a sunflower to raise awareness of centronuclear and myotubular myopathy – it would be lovely to continue receiving sunflower photos over the UK winter months.

Sunflowers grown in Harpenden during The Big Sunflower Project 2019.

The Big Sunflower Project is only possible because of the kindness of the organisations that support our work with donations, discounts, funding and publicity. Sunflower seeds for The Big Sunflower Project 2019 were provided by Kings Seeds, who provided 300 packets of seeds at a large discount.  Seeds were also donated by people who harvested seeds from sunflowers they grew during the 2018 project – thank you Katrin, Mike and the University of Leicester Social Impact team. In addition the project received a £200 donation from Cheshire West Voluntary Action, a £150 donation from Sanctuary Housing and a donation of stamps from project participant Sue.

The Big Sunflower Project was also recently featured in the Liverpool Echo and we are grateful to Semble and the Liverpool Echo for making this happen. You can read the article below.

Sunflower grown in Leeds during The Big Sunflower Project 2019.

Project map

This year 300 places were plotted on the project map which can be seen below – click a sunflower to learn more about the people growing sunflowers in that location.

Photos

Over 700 photos were received from 81 participants this year. Every photo received was posted on social media to raise awareness of centronuclear and myotubular myopathy. Photos from the 2019 project can be found below.

Sunflower grown in Chester during The Big Sunflower Project 2019.

Stories

Thank you to everyone who shared their story with the project this year. The new stories can be found below.

Participant stories are incredibly important as they show the reach and impact of the project. If you would like to share your story too, please get in touch.

Sunflower grown in Chester during The Big Sunflower Project 2019.

Harvesting sunflower seeds

Don’t forget that if you have grown a sunflower this year you can save the seeds for growing next year or you can donate these to the project for others to grow. You can learn how to harvest your sunflower seeds below.

Sunflower grown in Leeds during The Big Sunflower Project 2019.

Make a donation

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 like to donate you can learn more about how to do this below.

The Big Sunflower Project 2020

Preparations are already underway for The Big Sunflower project 2020. This is a milestone year for the project as it will be the tenth year we have grown sunflowers to raise awareness of centronuclear and myotubular myopathy. You can read below how the project began.

100 packets of seeds have already been donated by Thompson and Morgan and harvested seeds from 2019 project participants are also promised.

We have also been able to obtain discounted postage stamps for 2020. Stamps are a major expense for the project and if we were say to send seeds to 300 people during the year, at current prices (83p for a large second class stamp) this would cost £249.00. Stamps for the 2020 project have been purchased with a discount of between 8 – 12% so is a massive saving which we will now be able to use elsewhere – thank you to Mike Abram for all his hard work sorting this for the project.

Next year we will once again be joined by our friends Zusammenstark, growing sunflowers for Emil. You can learn more about their involvement on their website below.

Sunflowers grown in Germany during The Big Sunflower Project 2019.

Further information

Further information about the project can be found on here on the project website and on the project social media pages.

Seed distribution for The Big Sunflower Project will begin again in early 2020. An announcement will be made on social media advising when seed applications are once again being accepted.

I.Lead

Kim lives in New Zealand and is diagnosed with autosomal dominant centronuclear myopathy. She also writes the blog Joyful Always which shares positive stories focusing on the joys in life.

Kim recently travelled to the New Zealand Parliament building, known as the Beehive, in Wellington to be part of leading New Zealand’s first youth with disabilities conference called I.Lead. Below Kim writes more about the event.

Kim outside the new Zealand parliament building.

The purpose of I.Lead was to provide a platform that allows young people with disabilities to have their voices heard with regards to issues they face as well as provide them with the means to talk with government and sector decision makers to find solutions to those issues. The conference was co-created by young people, YES Disability, various disability ministers and other disability organisations. I’m on one of YES Disability’s youth boards so this is how I had the privilege of being involved in the planning of this auspicious event.

When someone asks me how the conference was I say “amazing” because there aren’t any other words to describe it. Here are some highlights from the event.

Group facilitation

During one of our planning committee meetings we were discussing how everyone would be involved in the conference. It was decided that each committee member would facilitate the group discussions with participants. At the conference, we’d be discussing different topics/issues and we were able to pick a topic that we liked. The topics were eEducation, employment, health, housing, media, sport and recreation and transport. I picked employment because it’s something close to my heart.

When I found out I’d have to facilitate I was feeling a bit freaked out. I was feeling ill prepared with not having done facilitation before. I also didn’t want to let my group down if they couldn’t hear me. In the meeting it was decided that I would co-facilitate with another committee member.

When we were facilitating it went so well. I was facilitating with my long-time friend and we were able to bounce ideas off each other and provide support. When the participants arrived at the table I knew already that I found it difficult to remember peoples’ names, so as they introduced themselves I wrote all their names down. This meant that when I asked them questions I could address them personally. There was also a point in the conversation when I was speaking and I could see that the participants couldn’t hear me and so my co-facilitator was able to relay what I was saying. We were such a good team.

When we were facilitating I was put at ease. I was reminded that actually I have done some form of facilitation. When I was studying, almost every group work I was involved in, I took charge and had to lead the groups. When I was Deputy Chair of the student reps I had to run some of the meetings. Being a Girls’ Brigade leader I teach young girls different skills. If someone puts me in charge, I’ll do that to the best or my ability. I wasn’t under-resourced I was feeling overwhelmed but I didn’t need to be.

Schmoozing with the Big Cheese’s

After the first day of conference we had a fancy dinner in the Banquet Hall in the Beehive (how many people can say that). At dinner I was sitting with my same friend and we were joined by Paula Tesoriero the Disability Rights Commissioner. We were making polite conversation and when dinner came out I casually asked Paula if she liked Master Chef. To my surprise she said yes and following that, for the rest of our evening we were critiquing the food as Master Chef judges would. It was so much fun just joking and laughing over food. “Hmmm was that smoked salmon on a bed of spinach with a broccoli purée? A deconstructed pie with miniature tomatoes? A walnut pudding with cinnamon infused pears and a caramel sauce?”

When Paula finished her meal and went to talk to other people my friend asked me “did you know who she was?”. I said, “yes but I don’t care”. She’s a person in power but also, she’s a human like me. We can be equally awesome and we don’t need a title to do it.

Over the two days I had to talk to various people most of whom I’ve never met or talked to before. As I was talking I felt no fear because I was again reminded that talking to unfamiliar people and some high up people wasn’t foreign. I’ve had so many medical appointments over the years so I’ve learnt to talk to fancy doctors and specialists. As a student rep whilst studying I advocated for students and at times that meant having some hard talks with managers and CEO’s to get them to listen to students’ needs. Also growing up in church, the young mixes with older people, so me talking to older folk is just normal to me.

Making a speech

Another role of the committee members was the option of making a speech. At one of our meetings one person asked, “Kim would you like to do a speech?” In that moment the thoughts going through my mind were “oh no I hoped they wouldn’t ask me, the people won’t be able to hear me, it’s okay Kim you did speeches last year for your job, you can make it work”. Heaps of thoughts going through my brain in an instant but in reply I said “yes okay”. I mentioned they might not be able to hear me but I didn’t let it be a reason for me not to speak as I would’ve done and have done in the past. They were determined to make it work and probably for once in my life I wasn’t reluctant for it to work.

A week or so before I.Lead I started to write my speech. It had to be between 2-4 minutes. The topics we were writing on was a bit about ourselves, what we hoped would change after I.Lead, as well as what brought us to where we were today. Because we didn’t know the microphone situation at Parliament it was decided that I make a video speech and that way I didn’t have to worry about whether the microphone there would be able to pick up my voice. This was such a relief.

When it came to filming I got my sister to make the video. I wrote out a script of what I was going to say and had it memorised so the video could look profesh. When my video played at the conference I was so pleased. It was reasonably clear and if it wasn’t clear it had subtitles. My sister even put a b-roll of photos and a video to play in the foreground to keep my speech interesting.

My speech went so well. Even though I hesitated at the thought of doing a speech, it all worked out. When I was filming my speech I was reminded of how I went to different schools and did presentations as part of my job last year. I wanted to be profesh then so I memorised the twenty minute presentation scripts. I knew that if I could memorise those scripts, I could memorise the shorter four minute script and that if I could present for thirty odd students I could write a speech that encourages seventy odd people.

Closing remarks

I.Lead has taught me so many great things and I’ve grown so much over the whole experience. If I could sum up the experience as I mentioned before it was amazing. It was amazing because I saw where I was before and I see how the experience has pushed me to do greater things. I look back on my life and can see how every little experience I’ve had, had led me to that moment of leadership. I was confident in facilitating, confident with talking with random people and was able to do a speech because I’d done it before and because I believed in myself. I love how no experience is wasted and every skill learnt can be used.

I finally want to say thank you to my awesome committee of friends. It was a joy to work alongside you throughout the whole planning and running of the conference. Also a massive huge thank you to my two cheerleaders, ma and pa who came with me to Wellington looking awesome in the background.

Further information