Myotubular Trust European Family Conference

This article first appeared in a 2014 issue of The Information Point newsletter Our World. The third Myotubular Trust family conference had taken place in London over the weekend of Saturday 12 and Sunday 13 July 2014.  On day one of the conference 100+ people including affected families and individuals and researchers from 16 countries descended on the Holiday Inn in Bloomsbury to meet and exchange views, hear from the leading researchers and discover some of the latest ideas about how to manage the condition, while day two saw families and researchers who attended the conference gather once more to take part in the London 10k to raise funds for research. 

Researcher speaking at conference. Jong, Onessa and Elijah.

After the conference The Information Point spoke with a number of conference attendees, about what attending the conference meant to them. Barbara Wuebbels, Vice President of Patient Advocacy and Medical Affairs at Audentes Therapeutics, also wrote a report about a focus group held by the organisation at the conference.

Neil and Ginny.

Neil

My name is Neil Martin and I am 46 years old. I have two children from my first marriage, Abbie who is 17 and Christopher 15, also I have two stepchildren Alastair 26 and Georgena 18 who are my partner Ginny’s children. I am marrying Ginny on August 1st next year. I was born in Bishop Stortford in Hertfordshire but I now live in Westbury in Wiltshire. I work for Silcoa in their offices, my job I really enjoy.

I was diagnosed 20 years ago with MTM, after a muscle biopsy and we believe it is the recessive form but I have been left on my own to cope with the condition. The consultant in Royal United Hospital Bath said there was nothing he could do for my condition and for me to just get on with my life. I felt very alone although my sister has the condition too.

Up until a week before the conference I didn’t know of the Trust. I receive emails regularly from the Muscular Dystrophy campaign which usually I just delete, however on this occasion I opened the email and noticed in the bottom right about the Myotubular Trust family conference. I then read this with interest and emailed Melanie Spring, who was very helpful and I asked for two tickets for my partner Ginny and myself.

I was very skeptical, however on the Friday night when we arrived at the hotel we met a few families who made us so welcome and part of the big family. On the Saturday morning we were greeted and made to feel part of the conference. On entering the conference room we met Barbara and her husband who we had a good chat with. We then sat on a table at the front of the room and met a lovely couple Kim and Frank from Holland. Kim has myotubular myopathy and her condition is very similar to mine. When Kim coughed I said that ‘sounds just like me coughing’ and after the conference and over dinner we had a long conversation about ourselves and found that we had many things in common.

Throughout the day I learnt so much from all the guest speakers and it has given me hope. Although this was my first conference it will not be my last. Also Ginny and myself are planning to do some fundraising to help the Trust. I do not feel alone now but part of a large family who are there for all of us. If I had one wish it would be to walk down the aisle at my wedding next year.

Erin and Will.

Erin

Erin Ward traveled from the US to attend the conference. Erin’s son Will is diagnosed with x-linked myotubular myopathy.

Erin told the Information Point: I was so happy to have the opportunity to attend the 2014 Myotubular Trust Conference. The Myotubular Trust did a phenomenal job putting on such a rich learning opportunity and experience for families and researchers in the community.

I enjoyed having the opportunity to meet new families from many different countries and to participate in international collaboration with the Myotubular Trust team, as a team member from the US Family Conference. We look forward to continuing to build our collaborative efforts for our global family community in the future.

Toni

Toni

In July I attended the third Myotubular Trust family conference in London. I have been to all the conferences to date and as previously it was completely amazing to have the opportunity to attend.

One of the lovely things for me having attended before is witnessing the changes taking place every two year’s, from its beginning at the Victoria and Albert museum, to this year’s event, big enough to be held in a conference room of a London hotel, with people from around the world attending the event. It was also good to catch up with people I have met before as well as meeting people for the first time.

When my father and I were first diagnosed with centronuclear myopathy we were told we had the rarest and mildest form and that we were unlikely to find anyone else in the world with the condition … well the internet changed all that and for me, it is very comforting to be able to sit in a room full of people affected by the same family of conditions as dad and I, some of whom are similarly affected and who understand the issues that I face. Also, being able to listen to researchers as they speak about the huge steps being made towards finding a cure for the conditions. I remember being blown away at the first conference by what I saw and heard and again at the second conference and this year it was no different. Not only are the researchers smart but they communicate the research in an easy to understand way, using humour and slideshows and they do it all in a language which is often not their first language … incredible.

This year I also particularly enjoyed listening to the presentation by Martin Plowman of Dreams Come True, who helped one of our community several years ago, get their son born in Portugal, home to the UK. How wonderful to be able to tell people your job title is Director of Dreams and to be able to fulfil the dreams of children like those affected by centronuclear and myotubular myopathy by sending them to Disneyland or in the case of one dream recipient, waking up to find her dream of cows outside the window had become a reality.

Once again I left this years conference with a spring in my step, feeling positive, hopeful and excited for the future, as I am sure many more did too. What a fabulous way to make people feel. Anne, Mel and Wendy – thank you once again for a fabulous event and being generally all round good eggs.

Elina and Walter.

Elina

I am Elina Grate and my son Walter was born this April. When I found out after my son Walter’s biopsy that he has x-linked myotubular myopathy, I googled the diagnosis and found out about the Myotubular Trust and the coming conference. I immediately wrote a letter to Melanie Spring and have received very warm welcome and invitation to attend the conference.

Being only case in the country (Latvia), it is very valuable to know that I am not isolated and have all the information I need to manage the condition and meet the same parents from our community. I met fantastic parents, kids, researchers, organisers and felt very warm attitude towards me and my boy. After the conference I regularly communicate with parents and Melanie Spring and feel lucky that I’ve joined this big family and being updated of all scientific progress as well.

After the event I returned to the hospital to my boy and all the medical staff made inquiries about conference topics and I felt really proud to educate them of the condition. I feel inspired by the examples of parents and kids set, the dedication of researchers and great organisational and supportive work of foundation.

Holger with Mai-Lis and Anne Lennox from the Myotubular Trust.

Holger

Our son Emil was born on February 19 of this year in Stuttgart, Germany. Immediately after his birth, Emil was transferred to the intensive care at the Olgahospital in Stuttgart. There, doctors and nurses struggled for his life. After two months, the doctors had convinced us to agree on a triple surgery: tracheotomy, PEG tube and muscle biopsy. On the day after the surgery, we had a diagnosis: Emil suffers from MTM.

We were very sad and felt very lonely. However, only one day after the diagnosis, Jen found the information about the Myotubular Trust. To our surprise, there was this conference taking place just this year. I registered and got even invited by Audentes Therapeutics to take part in the focus group meeting on the day before the actual conference. How lucky we are. At one moment we thought we were all alone and by the next days we found out that there were others that would share their experience with us and that there was even substantial research going on to find a cure for that very rare disease.

In the focus group meeting I had the chance to discuss with several members of Audentes. I learned a lot about the possibilities and possible risks of the approach. We were about 8 – 10 parents from the UK, Norway, the Netherlands who were asked as group first how our situation was, how we got to know about the condition of our sons and what were our expectations on a possible remedy. I was the one with the youngest son and for me it was great to listen to the parents that had already so much experience. All had made it; all lived their lives with the condition found several ways to cope with it. It gave me a lot of confidence and hope that we would be able to do so too. I got a lot of practical advice from the moms and dads.

On the day of the conference this experience continued. I learned that there were even two more approaches to heal MTM. It was really good to talk with the parents and researchers during the breaks. I saw the kids playing in the other room and imagined that Emil will be there the next time also.

Isla and tortoise.

Claudia

When I initially found out about the family conference this year I wasn’t sure whether I could attend …… I attended the last conference which I found very informative and inspiring but this year would be the first one after losing my son Will to the condition in 2012.

I decided to be brave and I attended with my husband and my five year old daughter Isla (Wills twin) and I’m so glad we did. It was so exciting to hear how much progress has been made towards a cure from some very clever people. It’s really quite amazing to think that a cure is on the horizon and it brings us comfort in knowing that one day in the not too distant future we can give other very poorly boys like Will the freedom to live a normal life. It also offers us comfort for Islas future as we don’t know if she’s a carrier yet.

The conference itself was organised and held in a very warm and sensitive way whilst also providing us with an insight into the research that has been going on behind the scenes, thanks to all those who have been fundraising for the charity. I very much look forward to the next one.

Luke and Anna.

Clair

My name is Clair, mum of Luke Tierney who has X linked myotubular myopathy. This was our first year of attending the family conference and it was through the brilliant fundraising that we were able to have a room at the hotel and attend this year and we are extremely grateful for that.

So myself, Paul, Luke and our daughter Anna headed for London on the train with excitement. We were so looking forward to meeting everybody and swapping stories with each other and about our world of MTM, as well as finding out any other vital information. And my goodness we were not disappointed, we all had a fantastic time with everybody, the conferences were so informative and we enjoyed learning about the gene therapy, something we were not really understanding before, so it really helped us to understand what was going on in the community.

Anna and Luke had a fantastic day also playing and talking with the other children, Luke actually said he was amazed that other children looked like him and it was nice to see other people like him. Anna said of the day ‘I feel normal here, like I’m not the only one that worries and cares for their brother so much’. It really helped her to see other older siblings helping out with feeds and suction etc, she said ‘it’s something that I wouldn’t really talk about with friends as they don’t get it’.

So the day was a huge success, we were all looked after so well, with entertainment, food and drink – it was brilliantly organised and we’re so glad we attended this year and look forward to the next one.

Parent focus group meeting

Focus group meeting.

Audentes Therapeutics, with the help of the Myotubular Trust, hosted the first of several focus groups centered on their gene therapy treatment for X Linked myotubular myopathy (XLMTM), on Friday 11 July, the day before the Myotubular Trust Family Conference. This was the first of several focus groups centered on their gene therapy treatment for X Linked myotubular myopathy. Parents of young children with XLMTM ranging in age from four months to twelve years participated in the meeting.

The goals of the meeting were for Audentes to gain a better understanding of the impact of the disease on the child and their family within their home and community. The group also shared their thoughts on desired benefits they would like to see from a new medication to help their child.

Key reflections expressed from the parents included:

* the time to diagnosis can vary from birth to several years of age
* transition from hospital to home took long periods of time to arrange
* families may be socially isolated for many reasons, including the concern regarding exposing their children to infections
* numerous practical considerations, such as the need for electrical source for ventilators, customised van for electric wheelchair access and limited handicap friendly facilities
* homes may need to be remodeled to provide handicap access and in house transfer of patients
* professional nursing care may be needed multiple hours every day
* the frequency and severity of respiratory infections, and anxieties about ventilator failure are major concerns for parents

Rare disease medicines development companies frequently host these meetings to help them bridge the gap between the textbook picture of a disease and the reality of living with the disease. Parents provide critical information about the physical, emotional, and social impact of the disease on their lives and those of their affected children. This information is helpful to companies in planning and designing clinical trials and in particular in helping to understand relevant outcomes to measure.

The assistance of the Myotubular Trust in promoting the focus group, reviewing attendee applications and coordinating logistical arrangements was invaluable. Most importantly, the willingness of the parents to share their personal stories was extremely impactful and helps inform the clinical development plan immeasurably.

Another XLMTM parent focus group meeting is planned later this year, which will be held in the US. Further focus groups will take place during the course of next year and we look forward to continuing to collaborate with the Trust and with families.

Further information about the conference can be found below.

* Overview of the conference
* Photos from the conference
* Family conference feedback form

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