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.

Gordon W. Evans Art Leadership Award

Connie Bonfy lives in Kansas, USA and is diagnosed as an x-linked manifesting carrier of myotubular myopathy. She was recently awarded the Gordon W. Evans Art Leadership Award at Wichita’s Arts Council 50th Annual Art Awards.

Connie Bonfy

The annual Arts Council Awards were established in 1969 by the Wichita/Sedgwick County Arts and Humanities Council to recognise and honour businesses, foundations and individuals who have consistently supported the arts and humanities in the Wichita community.  You can learn more about Connie and the award below.

A graduate of Emporia State University (Drawing and Painting, Psychology) and Wichita State University (MA) in arts education/community development, Connie’s career has taken her from leading a small rural Kansas arts council, to Santa Fe, New Mexico and the Desert Chorale – a professional chorus, to a metropolitan ballet company – Ballet Wichita and more recently to Salina Arts and Humanities, a department of the City of Salina. Her diverse career also includes serving as the head grant writer for two community colleges in Kansas as well as the performing arts presenter at one. 

Connie is also a talented artist in her own right, including printmaking and painting in her studio and exhibiting regionally. Solo exhibitions include Cafe Life (2012) and Waiting for the Bus (2016) as well as several group shows.

In 2000 Connie was honoured by Kansas Governor Bill Graves with the Governor’s Arts Award for her lifelong committed work as an advocate for the arts. In 2013, she was selected to be part of the Climate Reality Project, lead by former Vice President Al Gore.

Officially retired, Connie is currently the CEO of Prairie Muses, a non profit organisation dedicated to celebrating the arts and engaging community through music, developing a short course for adults who wish to learn more about how to understand and view art and retraining to teach Art Appreciation online at Butler Community College.

Easyfundraising

The Myotubular Trust Easyfundraising eStore raises donations for the charity everytime a purchase is made there. The store has now raised a grand total of £1,429.21 for research into centronuclear and myotubular myopathy. If you haven’t heard of Easyfundraising before, you can see how it works in the short film below.

With Christmas fast approaching, The Information Point asked The Myotubular Trust to tell us why the donations are so important. Mel Spring, Communications Officer at the Trust said:

‘We are incredibly grateful for the regular donations that we receive via Easyfundraising and to those who support us this way.  We love that donations come to us at absolutely no extra cost to our supporters, and by doing something that many of us do on a regular basis – online shopping.  We were impressed at just how quick and easy it is to register and that you can even set up a reminder that pops up whenever you shop with a store that is registered with the scheme. The money that is raised on Easyfundraising is used to fund research and whilst each individual purchase may raise anything from a few pence to a few pounds, when several people join forces and register to support us, it really can make a difference. Please do consider supporting us this way – there’s no better time to register than in the lead in to the festive season when many of us become more frequent online shoppers.’

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. 

 

Easyfundraising logo.

Myotubular Trust fundraising events 2020

Our friends at Myotubular Trust have places on offer in several fundraising events in 2020.  As there is no public funding available to fund research for centronuclear and myotubular myopathy, the Trust rely heavily on people taking part in these events and the support of the networks of those affected by the condition.

Given the rarity of centronuclear and myotubular myopathy, this network is relatively small but the funds raised by supporters to date has made a huge difference in the journey to finding a treatment for the  conditions, whether it’s contributing to Ana Buj Bello’s work on gene therapy, Jocelyn Laporte’s work on DNM2 down regulation, Jim Dowling’s pre-clinical work on re-purposing tamoxifen for x-linked myotubular myopathy, or going toward the current grant round. You can see what a difference a small army of supporters can make below. A small army really can make a difference.

If you, or someone you know, would like any further information about any of the events shown on this page, please email Myotubular Trust.

Or if you prefer, you can organise your own event. See the ‘Fundraising News’ page on the Myotubular Trust website for more information.

Please note: every penny raised by supporters goes into research, as the Myotubular Trust raise the running costs of the charity separately

Myotubular Trust London Hope Walk 2019.

Myotubular Trust London Hope Walk 2019.

Myotubular Trust logo

2020 European conference

The next European centronuclear and myotubular myopathy family conference will take place in Bad Nauheim, near Frankfurt from 21 – 24 May 2020.

The conference will be hosted by:

A booking form for the event will be available shortly.

European family conference.

Attendees at European family conference.

Action for Access

Genetic Alliance UK recently launched the Action for Access campaign at the Houses of Parliament, All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions and published a report that details the changes they want to see to improve the assessment process for rare disease medicines.

With new breakthroughs in research now emerging for our conditions and the possibility of treatments for some of the genetic mutations which cause myotubular and centronuclear myopathy a tangible distance away – now is a really important time to join Myotubular Trust in supporting the Action for Access Campaign.  Wendy Hughes attended the launch of behalf of Myotubular Trust and below writes about the event and what the campaign hopes to achieve.

On a rainy afternoon in late October, along with other members of Genetic Alliance UK, we assembled at the Houses of Parliament in London to celebrate and to support the launch of a new UK wide campaign called Action for Access.  The goal of this campaign is to ensure that the NHS in the UK reviews and changes the current decision making processes to modernise them and ensure that they are much fairer and more streamlined, therefore preventing unnecessary delays in patients of rare disease getting the treatments they desperately need to improve their health and quality of life. 

The plan is for us to form a new dialogue on the future of patient access to rare disease medicines. This comes following a damning review of the current systems operated by NHS England which sees UK falling drastically behind other European nations in terms of treatments available.  It also means patients and their families can be left in the dark, unsure of what’s next.

Many parents and groups, including Myotubular Trust, spoke about their fears about and experiences of the current new ‘highly specialist technology’ (or new medicines and medical equipment) appraisal system. There were emotive case studies spoken about, where patients had been waiting for months, sometimes years, to access an approved drug or device that was new to the market via the current system.

Everyone at the meeting agreed that we needed a new way forward to address the issues of access to rare disease medicines in the UK and to resolve the problems of uncertainty, change the system to assess new drugs, and pricing problems that often stalls drugs reaching patients when the industry and government can’t agree.

Catherine West MP chaired the meeting at the Houses of Parliament at the All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions and made a rallying speech, saying that as part of that campaign we all need to take action over the coming months to raise awareness of our rare conditions and the issue of access to medicines with our MPs. In this regard, Genetic Alliance will be providing us with some targeted actions which will be specific to our own patient group’s aims, which we will be announcing over the coming weeks and months.  

Further information

Action for Access logo.

 

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.

Strong Will

Earlier this year Will Ward who is diagnosed with myotubular myopathy celebrated his 16th year as a part of the Boston Children’s Hospital Miles for Miracles program, which partners runners with hospital patients. You can learn more about the Miles for Miracles program and Will’s involvement below.

As patient partners and their families gathered prior to the 2019 Boston, a short film about Will was shown to runners, patient partners and their families.

Further information

This year the Miles for Miracles program team raised more than $2.2 million and was supported by nearly 200 miles of runners. Further information about the program can be found below.

 

Myotubular Trust fundraising events 2019

Our friends at Myotubular Trust have places on offer in several fundraising events this year. As there is no public funding available to fund research for centronuclear and myotubular myopathy, the Trust rely heavily on people taking part in these events and the support of the networks of those affected by the condition.

Given the rarity of centronuclear and myotubular myopathy, this network is relatively small but the funds raised by supporters to date has made a huge difference in the journey to finding a treatment for the  conditions, whether it’s contributing to Ana Buj Bello’s work on gene therapy, Jocelyn Laporte’s work on DNM2 down regulation, Jim Dowling’s pre-clinical work on re-purposing tamoxifen for x-linked myotubular myopathy, or going toward the current grant round. You can see what a difference a small army of supporters can make below. A small army really can make a difference.

Places are on offer in several events this year, including some new events. If you, or someone you know, would like any further information about any of these events, or would like to take part, please email Myotubular Trust.

  • London Hope Walk: Saturday 18 May 2019
    A 10km walk from London Bridge to Battersea Park which takes walkers across 10 of London’s iconic bridges. 
  • London to Brighton Ultra Challenge25 and 26 May 2019
    A 100km or 44km walk or run between London and Brighton, over either one or two days.
  • ASICS London 10k21 July 2019
    A 10km run for runners of all abilities which takes you through the streets of London and past some great attractions.
  • Velo North1 September 2019
    A closed road cycling event through the awe inspiring North Pennines countryside –  50 mile and 100 mile places available.
  • Devon Hope Walk7 September 2019
    A 10k rural coastal path walk, circling around the pretty Devon village of Noss Mayo.
  • Serpentine Swim21 September 2019
    Places available for both the one mile and two swims around the Serpentine in Hyde Park, London.

Please note: every penny raised by supporters goes into research, as the Myotubular Trust raise the running costs of the charity separately

Myotubular Trust Hope Walk 2018.

Myotubular Trust logo