The global fight to end MND - Record numbers of delegates attend our International Research Symposium - Winter 2018
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The magazine of the Motor Neurone Disease Association Six pages Winter 2018 of research inside this edition The global fight to end MND Record numbers of delegates attend our International Research Symposium
For mND
GAZE
COMPATIBLE
2 www.mndassociation.org
, part of the family
6–7
International Research Symposium
Read some of the highlights from our
welcome…
28th International Symposium on I have just returned from our 28th
ALS/MND
International Research Symposium on
8–9 MND in Boston where we saw the largest
Making the most of life with MND
Three people living with MND share how number of delegates, with 1,300 of the
they continue to enjoy their interests
world’s leading MND researchers and
12 – 13 clinicians attending our annual event.
“Fundraising is a big step towards
me trying to deal with the loss of This continued growth in the number
my Mum.” of delegates is a strong reflection of the
Vicky talks about her experience as a
fundraiser and young carer increase and range of research taking
14 –15 place around the world, to understand
Revisiting lithium trials highlights the causes of MND and find new treatments (see page 6 and 7). This
importance of precision medicine
Dr Ruben van Eijk comments on the
is extremely heartening and, through this international collaboration,
findings of the study we will be able to continue to accelerate progress.
20 – 21 Much of the growth in research is only made possible due to
“I believe we will find a treatment the support of MND communities globally. Currently the MND
in my lifetime.”
Prof Ammar Al-Chalabi answers the Association is funding 88 research projects thanks to our own MND
question ‘are we really making progress?’
community, and we know the majority of you have been personally
24 – 25 touched by the disease. Thank you for your fundraising efforts.
Helping people with MND ‘keep’
their voice Closer to home, sadly we know people with MND are still facing
Our first voice banking volunteer, unacceptable challenges accessing benefits like Employment and
Kim explains how she helps people bank
their voice Support Allowance (ESA) and Personal Independence Payment (PIP).
At our recent parliamentary reception, the All Party Parliamentary
ON THE COVER This image, by research scientist Ricarda Group on MND, launched its report on PIP. We will continue to
Menke with Prof Martin Turner from the University of
Oxford, shows a modified image of brain sliced vertically actively campaign on this issue to ensure people with MND are
through the motor regions. There are colour-coded blobs
showing the relative diffusion of water through the nerve getting access to the benefits they are entitled to and do not have to
pathways of the brain. The main descending motor tracts
that are so damaged in MND are marked in yellow. endure pointless reassessments (see page 26 and 27).
For some of us, the New Year is the perfect time for setting new
challenges. If, like me, you want to make a positive difference in 2018,
why not take a look at the events diary enclosed in this edition of
Thumb Print is the quarterly magazine of the
Thumb Print. Last year I joined #TeamMND and cycled from London
Motor Neurone Disease (MND) Association,
PO Box 246, Northampton NN1 2PR. to Paris with my partner on our tandem! It was definitely a challenge,
Reg. charity number 294354.
but also one of my highlights from 2017.
Editorial and advertising enquiries:
Mel Barry, Editor, 01604 250505 Thank you for everything you do to support our vital work and I
editor@mndassociation.org
wish you a very happy and peaceful New Year.
If you have comments or feedback about
the magazine and its content, please do not
hesitate to get in touch.
Thumb Print is available to read online
and as a downloadable pdf at
www.mndassociation.org/thumbprint
Sally Light
The views expressed in Thumb Print are not necessarily
those of the Association. The advertisement of third
party products or services does not in any way imply
Chief Executive
that those products or services will be provided,
funded or available via the Association.
www.mndassociation.org 3
Credit Suisse UK charity partnership
smashes £600,000 target
O
UR special year-long partnership our MND Care Centre Network to enable
with Credit Suisse has now come more people with MND to have access to
to an end and we are very proud of a specialist centre, with some of the funds
everyone involved. The target of £600,000 raised contributing to the opening of our
was smashed, thanks to the creative 21st MND Care Centre in Norfolk. It has
fundraising of Credit Suisse employees. also allowed us to launch our two year
Since our update in the last edition pilot project to help people with MND
of Thumb Print, Credit Suisse has held to bank their voice by providing funding
a special dinner and auction hosted by for the equipment. Finally there has
renowned chef Michel Roux Jr and a carol been investment in ProjectMinE, to help
concert where Association patrons and understand the genetic causes of MND.
supporters; Eddie Redmayne, Charlotte We would like to thank Credit
Hawkins, Deborah Meaden and David Suisse staff for their dedication and
Gower gave seasonal readings. commitment. The money they have
The support from Credit Suisse has raised will make a big difference to the
provided funding for three programmes. support we can provide people living
Part of the money has been invested in with MND.
4 www.mndassociation.org
£1m of benefits
identified for
people affected
by MND
S
ince its launch earlier this year,
our benefits advice service has
now identified £1million worth
of benefits people affected by MND
Tennis match in the clouds raises £54,000 were eligible to claim. John Gillies-
Wilkes, Regional Delivery Manager at
P
aul Jameson, 57, was diagnosed with “Not happy with just a Mount Kilimanjaro the MND Association said: “We knew
MND earlier in the year, but that didn’t climb, we wanted to do something even this service had the potential to make
stop him breaking (unofficially at time better and have a tennis match at the a big difference to people, and thanks
of going to print) a Guinness World Record summit. People thought we were mad, and to the Ice Bucket Challenge, we were
for the highest ever altitude game of tennis. we probably are, but life is too short and able to fund it. In just eight months
Following his epic climb to the top of I’ve always enjoyed challenges. Our aim was we have so far identified over £1
Mount Kilimanjaro, Paul said: “I have been a to raise £50,000 for MND research, as I’d like million of benefits.
member of my local tennis club for over 20 other people in the future to benefit from “Many families do not know what
years. Only a few days after I was diagnosed, the money we’ve raised.” benefits they are entitled to and how
very good friends from the club came over To find out more about Paul’s trek and to claim them. Our benefits advice
and we discussed bucket lists and what I Guinness World Record attempt visit service guides
wanted to do. www.kilimasters.com them through
the system and
“Share my experience with others.”
ensures they
are claiming
T
elevision editor Half Life deals with the everything they
turned writer/director experience of being are entitled
Sarah Gray, has between life and death to. With the
worked on hundreds of which reflects my current service’s Welfare
benefits
advice
programmes and written outlook. It is being used specialist
Benefits Advice Service
and directed her own by my palliative care knowledge, An introduction for MND Association staff,
claimants
volunteers, care centres and health and
short films. In October specialist as a training tool. social care professionals
2015 Sarah received a My latest collection, Urban can receive England and Wales: 0808 801 0620
Northern Ireland: 0808 802 0020
benefits far
www.mndassociation.org/benefitsadvice
devastating diagnosis of Creatures is due to be
MND. Sarah describes how published in Spring 2018. quicker. Indeed,
MND has affected her and I now have to use many people living with MND don’t
how she is determined to speech recognition realise that a Personal Independence
continue to write. software, which is Payment claim that usually takes
Sarah said: “MND amazing and frustrating between six weeks to six months,
has affected my life in at the same time – it’s not can be reduced to just six days if the
every way imaginable. I always accurate and can claim is made under ‘special rules’.
was only 43 when I was be slow. Knowledge like this is invaluable to
diagnosed and it was devastating to deal In terms of subject matter, I have families affected by MND.”
with a significantly reduced life span, as
well as coping with the gradual onset
written a lot about what it means to be
outside of the norm and how dealing with
Benefits advice
of disability. Loss of independence and something sets you apart from others. As service
control, identity and intimacy are tough.
Relationships change and a more intense
well as the physical dimension it is a very
lonely place and I wanted to share that
(free to call)
level of trust develops. Everything is experience through my writing.
difficult and takes a lot planning – nipping “During the process of my diagnosis
England and Wales
around is a thing of the past.
“Previously I had studied for a Masters
the MND Association was there at the
end of a telephone to offer support. I
0808 801 0620
degree in literature, and I did a Creative recently organised a story-telling event
Writing Diploma. My writing developed to raise money and awareness for the Northern Ireland
from there until I had enough for a
collection. I have now published two
MND Association and as well as being
a really fun evening I was happy to give
0808 802 0020
collections – Surface Tension and Half Life. something back.”
www.mndassociation.org 5
The world’s leading MND
researchers under one roof
Over 100 talks, 400 posters, and 1,300 delegates at
this year’s International Symposium on ALS/MND in Boston.
O
UR annual Symposium is not prognosis (biomarkers, or technology and Masitinib, a drug attempting to reduce
only a chance for researchers ALS), developing treatments (eg clinical inflammation in motor neurones, was
all around the world to learn trials, or therapeutic strategies), and found to delay disease progression and
about new findings and techniques management of symptoms (eg cognitive slow down progression of symptoms.
developed by different labs to improve change, and respiratory management). While a further clinical trial is now due to
their own studies. It is also an opportunity The posters were split into 14 themes, with provide more data, masitinib is currently
to spark conversations about new two additional themes that presented under investigation by the European
collaborations, which can eventually lead research that is still ongoing, but showing Medicines Agency (EMA) in order for it
to finding new treatments. promising signs. to be licensed as an MND treatment in
A typical day at the Symposium Europe.
starts with a large number of talks Another drug, tirasemtiv, recently
that are intertwined with coffee failed its primary objective to
and lunch breaks, which are a great improve breathing function and
opportunity for researchers to was shown not to be well tolerated.
network. In the evening, everyone Its successor (called CK-2127107),
meets in a large room filled with working on a similar principle as
research posters to complement tirasemtiv, already showed improved
the findings presented during the tolerability and will be tested for
day. Poster presenters are available beneficial effects in future trials.
at their own posters, to explain the Ibudilast has recently finished
rationale and process of their study Phase 1/2 clinical trial in which the
in detail to anyone who is interested. drug was shown to be safe and well-
This is a great place for delegates to tolerated. Preliminary analyses also
suggest (and learn) improvements of their From new genes and development of showed that the ALSFRS score (measuring
study design, follow-up studies, or discuss therapies, to ways to diagnose and track functional change) didn’t decline in some
new collaborations. the disease and innovative methods participants, but these results now need
To make sure that as much of MND to manage symptoms, the Symposium to be replicated in further bigger trials to
research as possible is covered, the talks highlighted the progress made in 2017. determine beneficial effects of ibudilast.
are split into sessions, and posters into
themes. This year, we had 11 sets of Treatments New genes
sessions; most of these included two, or While there are currently many clinical Finding new genes that are associated
sometimes three, parallel sessions, with trials looking at new treatments for MND, with the development of MND is no easy
around five talks in each. The sessions lots of them are in the early stages of task. Since the discovery of the SOD1
covered topics such as biomedical investigation. Aside from learning new gene in 1993, the average time taken to
research (eg RNA transport, TDP-43, or lessons on how to improve design of announce a new gene discovery has been
Neuroinflammation), causes of MND (eg clinical trials, we also heard results on drugs about one per year (although the process
Genetics, or Epidemiology), diagnosis and that have recently sparked a lot of interest. behind finding a new gene takes much
6 www.mndassociation.org
longer). At this year’s Symposium, three
new genes associated with MND were
presented, and updates on these will be
Awards at the Symposium
provided soon.
The Symposium is also a time to award those who
Symptom management made a difference in the world of ALS/MND.
Prof Chris McDermott announced
the launch of the HeadUp collar, an International Alliance Humanitarian Shay Rishoni Patient Impact Award
innovative neck support with a lot of Award for internationally significant non- awarded by Prize4Life for patients who
technology embedded in it. The collar scientific contribution for people affected made significant and outstanding
consists of a material base, so it can go by MND. contributions to ALS/MND research and
under clothes, and it includes a thermo- Pete Frates, Patrick Quinn and Anthony drug discovery efforts.
regulatory layer, so it has the ability to Senerchia Jr. for their significant Bernard Muller and Robbert Jan Stuit for
cool a person down when they are hot, involvement in the Ice Bucket Challenge their initiation of Project MinE, the largest
or warm them up when they are cold. that raised over $220 million worldwide international genetic MND research
It adapts to the needs of patients and to fund MND research. analysing DNA of over 22,000 people to
it is very easy to add extra support. An understand the genetic basis of MND.
International Alliance Forbes Norris
extensive evaluation found that 80% of
Award for researchers advancing the Symposium Poster Prize to celebrate
people preferred it to other collars. The
management and understanding of MND. the high quality of clinical and
HeadUp collar will be available on the
NHS from April 2018. There will be more Dr Merit Cudkowicz, Chair of Department biomedical posters presented by
of Neurology at the Massachusetts early-career researchers during the
information on this in the spring edition.
General Hospital, leader in MND Symposium.
research, passionate patient advocate, Katerina Placek (University of
and mentor of young researchers Pennsylvania) for her biomedical poster
More information involved in clinical trials. on genetic factors associated with frontal
Find out more about what was talked disease in ALS.
about at the Symposium on our Paulo Gontijo Award for outstanding
Mehdi van Den Bos (University of Sydney)
dedicated webpages: young investigators working on ALS/
for his clinical poster on imbalance in
www.mndassociation.org/ MND based on significance of their
cortical inhibition-excitation network and
symposium/symposium-live published scientific paper.
its effect on cortical hyperexcitability.
Read live tweets from the Symposium Dr Marka Van Blitterswijk, Assistant
as it was unfolding using #alssymp Professor of Neuroscience at Mayo
For a more detailed overview Clinic, Florida, USA, helped increase the
of the research discussed visit knowledge of treatment strategies and
mndresearch.wordpress.com prognostic tests for MND.
www.mndassociation.org 7
Making the most
For people living with MND, more planning and support may be needed, but a diagnosis does not mean you have
to let go of your interests. As the disease progresses, you may of course need to adapt and do things differently. Our
new booklet, Making the most of life with MND, looks at ways to help you achieve this.
W
HEN Lee Millard was diagnosed at life after diagnosis are neither those “Leading up to diagnosis my head was
with MND, he was devastated who refuse to change or those who fall all over the place. While the diagnosis was
and worried about the future for into a wheelchair like a duck to water. Be devastating, personally I felt better for
him and his family. He was doing a job he somewhere in the middle.’ knowing. I took it on the chin and thought
loved at multinational tech company IBM “He is right, be flexible – I have taken I will not let it beat me. That is the attitude
and enjoyed frequent trips abroad. MND that advice. Life is about having aims. As a I have kept ever since. But there are days
sadly meant some significant changes to salesman, you have to have a motivation. when I wish I wasn’t me anymore, when I
this lifestyle. No one did my job for me. After being could go back to how I used to be. I was a
Lee said: “MND hits in two ways. First diagnosed, no one would live the rest of very active and independent person, so to
there is the absolute emotional punch my life for me. I’ve had to adapt and not have those things slowly taken away from
that you are almost certainly going to mourn what I can no longer do, but find me is hard to adjust to.
die from this disease. This did not last things I can do. It was after reading about “Of course, there are things that I have
long, and strangely now, despite very real another person with MND in America, that had to give up, like golfing. But rather than
progression, I am happy. Obviously I would I found the recumbent trike. This is the focus on what I can no longer do, I focus
rather it not have happened, but it has, so only exercise I do now. Yes I miss those on what I can do. I am still working and
there is no point in dwelling on it. things, but nothing lasts forever. I want to continue to do that for as long
“The second hit is on the physical side; “I first started to ride the trike nearly two as I possibly can. To do this I have had to
I was a runner, cyclist, skier and gym years ago. It has totally changed my life make changes. I have employed a friend
fanatic. In the first year after diagnosis, and got me exercising and outside again. who comes with me to pick up the dogs. I
I had to stop running and cycling, I just I see it as a wheelchair, but powered by struggle with using keys, so she helps with
couldn’t manage it anymore. But, I will me. When I am out on my trike, I have this and all the other things I can’t do.
never forget what my neurologist said to many different feelings. It’s fresh air, and “I was very keen to be involved in the
me on the day of diagnosis. I had asked I am travelling around the village seeing MND Association. My family and friends
him about the progressive disability, and people, and feel pretty much normal! It’s also wanted to get involved and start
how do people cope. He was blunt in great. I get many comments, ‘Look at the raising money. I want to stay as active as
his reply: ‘Lee, be prepared to adapt, and bike Mum, can I have one?’” possible for as long as possible so I did
be flexible. The people who do the best For the last six years Samantha Tooze a 5k fun run. My amazingly supportive
has run her own dog walking business. family have so far raised over £4,000 for my
Since her diagnosis of MND in 2017, she Fightback Fund. As well as helping others,
“For people living with is determined to continue to work and to fundraising has really helped my family to
MND, more planning stay as active as possible. lift their spirits and have some fun.
and support may “As for next year I am already making
be needed, but a lots of plans, including a skydive. I am
always set for a challenge and the next big
diagnosis does not adventure. Whilst my independence has
mean you have to let changed, my personality hasn’t. The only
go of your interests.” thing about me that has changed is that
I used to think about other people rather
than myself. Now I think about myself
more and what I want to do.”
Carol Johnson was diagnosed with
MND in 2008. Carol said: “Receiving the
diagnosis was the worst day of my life,
I thought I was going to die. I hated it,
always falling down, dragging my left leg
and unable to wear high heel shoes.
“After losing my speech a year later, I
had to stop working and that was very
hard for me. I have never accepted the
disease, and it does make me sad, but
I am now learning to focus on things I
Lee Millard riding his recumbent trike
8 www.mndassociation.org
of life with MND
“Rather than focus on
what I can no longer do,
I focus on what I can do.
I am still working and
“I have learnt
I want to continue to
that you cannot
do that for as long as I
let MND rule your
possibly can.”
life, you have to
take charge and
enjoy life to the
full, as there will
be no second
chances.”
Samantha Tooze, right, with her friend Bev
enjoy doing. I am unable to walk, unable
to speak, and I have carers to help me
with most things. However, I really enjoy
arts and crafts and my brilliant art teacher
at the day centre encourages me to do
things I would have never dreamed of
doing. When I am doing art I forget I am
seriously ill. It’s the best remedy to keep
your mind busy. I have learnt that you
cannot let MND rule your life, you have to
take charge and enjoy life to the full, as
there will be no second chances.”
Our new booklet was developed in
response to many requests from people
with MND asking for information on how
to make the most of life. Helped by people
living with or affected by MND, our new
booklet includes tips on how to continue
to enjoy interests and activities. It also
shares a selection of personal experiences
of people with MND, who have found ways
to continue doing things they enjoy.
You can download Making the
most of life with MND by selecting
the option for Guides at: www.
mndassociation.org/careinfo
Or order a printed copy from MND
Connect: Telephone:
0808 802 6262 or email:
mndconnect@mndassociation.org
Carol Johnson
www.mndassociation.org 9
A seven month journey around the
health system in Northern Ireland
In July, Siobhan Rooney became the first person in Northern Ireland to be
elected to our Board of Trustees. During her career Siobhan has worked as
a nurse, midwife and health visitor, and held senior management positions
in a number of Health and Social Care Trusts and at Department of Health in
Northern Ireland (NI). Siobhan shares her motivation for becoming a trustee.
M
“ Y husband Martin, started to home. We didn’t know what the journey
experience difficulty with his would entail. With the help of my two sons
speech and swallowing in March Barry and David, and their wives Ania and
2007. It became increasingly clear there Katherine, our home was rearranged to
was something seriously wrong. Later that accommodate Martin’s needs.
year our GP referred us to the hospital. “His needs were extensive with invasive
That was the beginning of a seven month ventilation, continuous supervision and
journey that took us around the health 24 hours a day, seven days a week nursing
system in Northern Ireland. care, along with eight weekly return trips
“We never expected MND and had to hospital for a change of tracheostomy
very little awareness of it. Martin was tube and feeding tube.
admitted to hospital in 2007 for a number
of respiratory investigations, but still “After a lot of encouragement
Martin Rooney
no diagnosis. Six months later he was I decided to apply to become
admitted to hospital and ended up in a trustee. I had to negotiate for to apply to become a trustee. I had to
intensive care after going into respiratory the support and care that we negotiate for the support and care that
arrest. We had our two sons with us and it received for Martin.” Martin received. I knew the system, having
was there we finally received the diagnosis worked within the Health and Social Care
of MND. “I soon became Martin’s main nurse and Service in Northern Ireland and even with
carer. Despite his complex nursing care all my contacts, I still found it hard. So how
needs we had no identified care package hard must it be for people who don’t have
until three days before he died. my background and experience?
“Looking back, I don’t know how my “It was wonderful to be elected and
sons and I did it. It was an exhausting I’m very proud to be the first person from
time. I was helped by my background Northern Ireland to join the Board. I am
in nursing and was not fazed by the passionate about the need to find a cure
management of the tracheostomy tube, for MND. I want to use my experience,
invasive ventilation, feeding tubes and knowledge and background to help
deep suction he continually needed in improve the care people living with MND
our home. Family and friends were all receive, have access to the services that
very supportive and one nurse who has they need to enable them to fulfil their day
become a good friend went beyond her to day living activities and maintain their
hours to help. quality of life.
“Martin knew when he was ready to “While the care is somewhat better than
go. He was tired. After Martin’s death, I when Martin died, it still needs to improve
received a lovely letter from the neurology dramatically across the UK. I am proud
consultant. He said Martin wouldn’t have to be part of a strong charity and look
lasted a month in hospital. It was only from forward to finding new ways to influence
the care he received at home, that he was care and improve clinical research through
able to live for 18 months. new collaborations locally, nationally and
Siobhan and Martin
“Martin has been dead for eight years internationally.
“Martin was very ill and having trouble now. After his death, I joined the Northern “In Northern Ireland, I want to be more
breathing. He had a tracheostomy, a Ireland Branch, where I met a wonderful proactive in engaging and lobbying key
feeding tube and was given just one month group of very dedicated and committed strategists, politicians, commissioners
to live. Martin wanted to go home, but volunteers. Shortly after joining the branch, and service providers in the NI Health
this was viewed as too high-risk by some I became an Association Visitor and I’m and Social Care Trusts improve access to
community staff. I was determined to fulfil now the branch contact. services, service provision and in particular,
Martin’s wishes and insisted we take him “After a lot of encouragement I decided respiratory services.”
10 www.mndassociation.orgF
OR me, this time of year is about
reflecting on the last 12 months,
alongside making plans for the future.
Now we are in 2018, we have entered
the second year of our five-year strategy.
Last year, we saw some changes to the
Board, with a number of new trustees
elected. This has brought a significant
change for us all as these new faces also
bring different knowledge, experiences
and expectations. However, our focus and
determination that our work positively
impacts the largest number of people
with MND as possible, remains the same.
Our strategy is about adapting what
we plan to do to nationally to fit what
Our focus and
determination
remains the same
is actually happening at a local level –
something of importance for all of us. I am
pleased to say that as trustees, making sure
people get what they need locally remains
a priority for everyone from volunteers to
the Chief Executive (see page 28 for more
information on our regional work).
At the York Regional Conference last
November, I saw the importance of
this regional focus and how vital our
conferences have become in providing
information and support to people living
with MND, their carers and families. I am Alun Owen, Chair of Board of Trustees
very pleased that the number of people
attending our regional conferences is read the stories about the people involved For more information please see our
increasing, with thousands more watching in this project on the website. If you are information sheets Information sheet 7A –
annually via our Facebook livestreams. If currently faced with the decision, I would Swallowing difficulties and 7B Tube Feeding.
you haven’t been to a Regional Conference recommend you take a look. You can download our publications at:
already (or indeed even if you have) I This year will be my last as Chair, with wwwmndassociation.org/publications
would recommend you try to attend or Chair-elect Richard Coleman, ready to take or order printed copies from our MND
watch online one of the four regional over from me in July. Over the coming Connect helpline: 0808 802 6262,
conferences this year. Volunteers help set months Richard and I will be working mndconnect@mndassociation.org
the programme for conferences and we closely together to ensure a smooth
encourage them to take part, which makes handover for him to take up the lead. And
the event especially relevant to each area. as for me, after July, although I will no Dates for regional conferences 2018:
At the York conference, we focused on longer be a trustee, I will be continuing 24 March – Wyboston Lakes,
feeding tubes, sometimes known as ‘PEGs’ my volunteering locally as an Association Bedfordshire
(RIGS or PIGS). Deciding whether to have Visitor, branch committee member and 29 April – Castle Green Hotel, Kendal
one of these is an important decision. At as an MND Connect helpline volunteer.
20 May – Holiday Inn, Filton, Bristol
the conference, we showed the ‘My Tube’ So I will still be busy supporting this
wonderful charity and hope to continue 15 September – Dunsilly Hotel,
website www.mytube.mymnd.org.uk
Antrim, Northern Ireland
which is a fantastic resource for anyone the many friendships I have made at future
considering getting a PEG fitted. You can conferences and events.
www.mndassociation.org 11yourstories
Fundraising is a big step
towards me trying to deal
with the loss of my Mum
V
icky Paeschel’s mum lived with aiming to raise £10,000 and complete a
MND for just nine months before series of runs totalling 100k.
she died aged 39. The eldest of six, “No matter how tough these runs
Vicky was 18 at the time. Her youngest twin may be, the challenges Mum faced
brothers were only three. living with MND were far greater. With
Ten years on from her mother’s death, every kilometre I run, I think of her. It
Vicky is determined to raise as much money has been her incredible strength and
as possible for the MND Association. determination to continue fighting,
“My Mum was the most caring person that has been my motivation to keep
you could ever imagine and always put pushing myself, train harder and
us children first. She was a stay-at-home show my siblings that our shattering
Mum, looking after my twin brothers. Even was happening at the time. Now she has experience with MND can help to
when she started to struggle with her gone, I wish I had spent more time at make a positive impact.
symptoms, she would always make sure home, with her. I think that guilt is why “It has been a privilege
we were okay. it took me so long to get involved in to meet so many inspiring
“After a winter holiday to Switzerland, fundraising – I just wasn’t ready before. people along the way, and
where Dad was working at the time, Last year, I decided I wanted to do I have been overwhelmed
her symptoms got dramatically worse. I something positive and fundraise for the by the tremendous
remember the first time she texted and MND Association. I also wanted to show support, generosity and
asked me to pick up the boys from nursery, my siblings that it is okay to talk about encouragement from my
following a fall. This soon became a regular it and that we can help others going family, friends, colleagues and
thing, and nursery pick-ups became part through what we went through. the MND community. Having
of my day-to-day routine. got to know so many wonderful
“No matter how tough these runs
“Dad was working away, so I became her people who work tirelessly to make a
main carer, looking after her, my siblings may be, the challenges Mum difference, it did not take long before I
and making sure everything was okay at faced living with MND were far wanted to get more involved and joined
home. Whether it was getting the food greater. With every kilometre I run, the incredibly dedicated South Yorkshire
shopping, or doing housework, I was trying branch as a volunteer. In fact, joining fellow
I think of her.”
to step-up as much as I could. It must have branch fundraisers for the Sheffield Half
been so hard on her. She always wanted “Fundraising has actually helped. Being Marathon in April was one of my most
to have a big family and now couldn’t look able to do something and see so many memorable runs – it was an emotional
after them. It was heart-breaking. people out there who dedicate their lives day, but we had an amazing team and the
“Mum was in hospital when we were all to helping others makes you realise you support along the route was superb!
told to get there as fast as we could. That are not alone in this, and that there is hope “Both, fundraising and volunteering have
is when my Mum and Dad were told it was that one day a cure will be found. been hugely rewarding and being able to
likely to be MND. We were always hopeful “I always hated running, but I was talked support others affected by this cruel disease
she would get better, that we would be into doing a 5k last year. After somehow has helped me try to cope with the loss of
one of the miracle stories you read about. managing to cross the finish line, I my Mum. I know she would be proud, and I
“Looking back, I wish I could have done started to develop an idea to set myself a will continue fundraising and volunteering
more, but we just didn’t really know what challenge – 100k for MND Association. I am in her name.”
12 www.mndassociation.orgyourstories www.mndassociation.org 13
Revisiting lithium trials highlights
importance of precision medicine
M
ND is one of the most difficult with the UNC13A variation, 70% of people
neurological diseases to participants was conducted, the positive who were given lithium survived for 12
diagnose and treat. This is mainly effect was no longer there. months or longer, compared to only 40%
due to its complexity, as the cause of “Together with Dr Michael van Es we of those given placebo. No beneficial
the disease is likely to be a combination hypothesised that this might be due to an effect was found for people with the
of genetic, environmental and lifestyle imbalance in the distribution of genes in C9orf72 gene.
factors. Finding drugs to treat MND the different treatment groups in the trial. “The survival effects of the genes were
effectively is therefore based on first To clarify, we know that several genes can not a surprising finding and confirmed
investigating the disease mechanisms cause a more aggressive MND subtype; earlier reports. However, the finding
– that is, the changes in our bodies that what if, by chance, all aggressive genetic that the treatment effect depended on
occur at the cellular level and cause subtypes are randomised to the placebo genotype was very surprising. We were
motor neurones to die. Treatments for arm? This could lead to a false-positive quite sceptical at first, because we only
MND are now being developed based result (that is, finding a beneficial effect re-analysed the Dutch lithium trial.
on these biological changes that happen where there isn’t one). Subsequently, when Therefore, we decided to contact our
in people living with the disease. But a the trial is repeated in a larger number of Italian and British colleagues to confirm
recent paper, published in the journal people, imbalances due to randomisation our findings. The process of matching the
Neurology, has the researchers thinking disappear and the treatment seems no genetic information with the clinical trial
that we should be looking even deeper longer effective. datasets was quite challenging, which is
into the disease characteristics. “There is more and more why this follow-up study took almost two
The paper looked back at data from years to complete.”
a few clinical trials investigating lithium
evidence that MND cannot be
The impact of this paper was significant,
carbonate as a potential treatment for MND seen as one single disease. and not only for the new-found hope for
back in 2011. While these studies showed There are many different MND lithium in MND. It is now even clearer that
that lithium didn’t appear to have any subtypes, each with its own clinical trials could benefit from looking at
benefit, the revised analyses looked into the specific genetic subtypes when looking
treatment effects on specific subgroups of
variation in disease processes.”
for a treatment effect. The editorial by
participants, based on the genetic variation “To test this hypothesis, we started to Armon and Hardiman (Neurology,
they were carrying. Dr Ruben van Eijk of match DNA profiles with clinical trial data. vol 89, no.19), accompanying the paper,
University Medical Centre Utrecht in the We chose two genes that were known concluded: “Genomic profiling remains
Netherlands, who is the lead author of the at the time to be associated with a more in its infancy in ALS. However, the work
paper, commented on the development aggressive MND subtype and that are of van Eijk et al. marks the end of the
and findings of the study: relatively common among people with beginning. The novel insights open a new
“In MND there are many small Phase 2 MND: C9orf72 and UNC13A.” chapter and provide new impetus to the
clinical trials that show positive results, The re-analysis of the study found field in its search for a cure.”
however, when a larger trial is conducted, that, while the lifetime expectancy of “There is more and more evidence that
the treatment is, frustratingly, found to people with the UNC13A gene variation MND cannot be seen as one single disease.
be ineffective. A well-known example is is markedly shorter than in other MND There are many different MND subtypes,
Dexpramipexole, which seemed beneficial genetic subtypes, lithium only showed each with its own variation in disease
in the exploratory Phase 2, but when the positive effect on survival in this group of processes. It is therefore unlikely that one
confirmatory Phase 3 trial with nearly 1,000 participants. On average, of those people treatment will be able to treat MND as a
14 www.mndassociation.org“Being part of the MND community,
I have realised my true calling.”
This is the first of a series of interviews with our PhD researchers, following
the Thumb Print readership survey where you asked for more research news.
A
mit K. Chouhan is a PhD student
at the University of St Andrews.
Under the supervision of Dr Gareth
Miles, he is using human stem cells to
understand what makes motor neurones
sick and die early in MND.
“My PhD research project aims to
decipher disease mechanisms (the
biological processes that happen in the
body, causing a disease to develop),
which are important for the design of
new treatment strategies for MND. I am
doing this by using induced pluripotent
stem cell (iPSC)-based technology, which
allows us to reprogramme skin cells into
Dr Ruben van Eijk motor neurones. This enables us to study
human motor neurones and other cell
whole. Genetics may help to determine Amit K. Chouhan
types produced from iPSCs of people
which disease pathways are present
with MND in laboratories. of human iPSC-derived motor neurones
in patients, and help clinical trials to
determine the pathway the experimental “I have realised my true calling and astrocytes as a robust platform for
treatment is most effective for – this is which is to make a difference in screening drugs.
called personalised, or precision medicine. “In December 2017, I attended the
the lives of people with various
In oncology, there are many examples of 28th International Symposium on ALS/
brain diseases by utilising MND in Boston, where I presented a
genetic interactions with treatment, with
the most recent example in melanoma my scientific knowledge and scientific poster called Functional maturity
(BRAF genotype). Our results are a step training.” of motor neurones derived from control
towards precision medicine in MND.” and ALS patient iPSCs is affected by human
“Specifically, I am using iPSC derived iPSC derived astrocytes. The Symposium
motor neurones and specialised
So what does this mean for supporting cells called astrocytes,
is very important as it brings together
clinicians and basic scientists working
lithium and its potential to to investigate changes in neuronal on MND under one roof. Presenting my
treat MND? excitability (that is, changes in the way work at this conference enabled me to
“Despite similar trends being seen in all motor neurones convert the signals get feedback on how to improve and
three individual lithium trials, our results they receive into action potentials – the advance my research from world leaders
may still be a false-positive. This is primarily electrical signals necessary to control in the field. To further refine my research
because the analysis was not planned muscles). Using long-term co-cultures work for developing drug screening
before the clinical trials and the overall of these cells, we have discovered that methods, inputs from clinicians who
number of participants is still quite small. astrocytes derived from skin cells of interact regularly with people with
We are therefore planning a new lithium patients cause dysfunction in motor MND was immensely important. This
trial to be conducted exclusively in people neurones from people with MND and conference also provided me with an
with the UNC13A variation. from healthy controls. This dysfunction is opportunity to network with my peers in
“Approximately 140 participants would characterised by progressive loss of action the field and establish new collaborations
be required to confirm our findings. potential output (reduced excitability) to further advance my research.
However, as only 12% – 19% of people with due to loss of ionic currents. “After completing my PhD studies,
MND are carriers of this gene, we would “I am currently investigating which I plan on using my knowledge and
need to genotype over 1,000 patients. With ion channels (‘tunnels’ in cell membrane experience to develop new platforms
around 400-500 newly diagnosed cases allowing flow of ions in and out of a cell) for drug screening, which will further
per year in the Netherlands, the trial, hoped are responsible for reduced excitability facilitate drug discovery processes for
to start this year, will be held in multiple of motor neurones. These channels MND and other neurological disorders.
European countries.“ could then serve as potential targets for Being a part of the MND community, I
developing novel treatment options for have realised my true calling, which is to
Please note that genetic testing for the MND. As well as advancing understanding make a difference in the lives of people
UNC13A gene is not currently available of the disease mechanisms, my work has with various brain diseases by utilising my
on the NHS. highlighted the potential for co-cultures scientific knowledge and training.”
www.mndassociation.org 15Hints and tips “I wanted to see my baby
achieve his childhood dream.”
I
N response to our Thumb Print reader
survey we asked what you would like
to see in the magazine. A number From hoists to passing-out parades our grants are as
of you asked for a ‘readers tips’ section individual as the people we are here to support.
where readers send in what items they
L
have found useful or tips to help make orraine Farrell was diagnosed with
things more manageable. MND two years ago, leaving her
Dena’s husband Sam has MND and unable to walk and requiring 24 hour
found it helpful to make a CD that care. When her son Connah, completed
they can relax to, as a way to reduce his training to join the Royal Navy,
stress and feel able to face the day’s Lorraine feared she would miss his special
challenges. Dena said: “The fatigue moment and that the trip from her home
of 24 hour care, sapped us. We didn’t in the Wirral, to the passing out parade in
want to lose our faith, so one day I Plymouth, would be impossible to make.
put some healing verses on a CD. It Following a call to Lorraine’s local group
reassured my husband that he could in Wirral, the MND Association provided
hear my voice at any time. funding and support so that Lorraine
“The verses were from the Bible. could see her son achieve his dream of
Healing comes in so many ways. For joining the Navy.
me, listening to the verses, restored Lorraine said: “MND has had a huge effect
my peace, my joy, and it reminded on me and my family. I have gone from
me, we are not alone on this journey. a busy and active life, working with and Lorraine and son Connah Farrell
It reminded me that so many people riding horses, to being totally incapacitated
have challenges. Listening to the in just two short years. It has brought a ensure I was comfortable for the trip. It also
healing verses, helped us through our great strain on the family but my husband, paid for our carers to travel with us so my
lowest days and nights.” Charlie, ensures I get everything I need and 24 hour care was unbroken.
If you have any tips or pieces of our care team is fantastic. “I can’t put into words what this support
equipment that have helped you, “We have benefited from support from has meant to my family. I have been very ill
please share them with others by the MND Association, especially the Wirral over the last few months and I desperately
emailing editor@mndassociation.org MND Group who are always willing to chat. I wanted to see my baby achieve his
was desperate to see Connah at the passing childhood dream. We are a military family
out parade and be part of his special day. and this is a huge moment for all of us.
Communication But with my 24 hour care needs, I couldn’t
see how we could ever make the trip. The
“Connah has done Charlie and myself
proud by excelling in his training, not
Access Symbol – logistics were so complex, made even worse only becoming the class leader, but also
share your views by being admitted to hospital just days
before the parade.
winning the Ganges Trophy awarded
for the best team performance during
“Charlie said it was worth exploring training. Thanks to the MND Association,
and called the group to ask if there was and especially the Wirral Group, we
a branch in Plymouth who could help us were able to be there to celebrate his
find a specialist place to stay. They told us achievements.”
T
HE Royal College of Speech about the grants the Association provides
Therapists, Communication and encouraged us to apply. If you would like more information
Matters, the MND Association “The process was very easy. We were on our grants contact MND Connect
and the Stroke Association are just asked to supply costings for travel and helpline: 0808 802 6262 or email
developing a nationally recognised accommodation. The grant helped us to mndconnect@mndassociation.org
communication access symbol, hire a bigger disabled access vehicle to
similar to the generic wheelchair
and hearing symbol that is accepted
internationally. It would be shown in
shops and businesses where trained
staff will be able to assist people with
communication difficulties.
We want to get the views of people
affected by communication difficulties
about the symbol they would like to
see. To take part in the survey visit
www.mndassociation.org/symbol
16 www.mndassociation.org“He can’t talk, but I learnt so
much about my Grandad.”
W
HEN 14-year-old Emily Boulton “I also learnt more about my Grandad
had to decide what to do for her in ways that I wouldn’t usually as he no
Duke of Edinburgh Bronze award longer has the ability to talk and tell stories.
she knew immediately what she wanted By me visiting him, it has made him feel
to do. Having seen how MND has left her less isolated and lonely. It also gave him
grandfather John Boulton, unable to hold a something to look forward to. I thoroughly
book, she decided to visit him on a weekly enjoyed the experience.”
basis to read to him. She has now read
several books, including one about his
Our age specific information for
hometown Ludlow, during his childhood.
children and young people is designed
Through reading, Emily and John have
to help them understand more about
been able to look back and reflect over
MND. Finding the right information,
his past, including his time doing National
support and services immediately after
Service, and the countries he visited.
diagnosis can help the whole family.
Emily said: “As well as reading to
Grandad I would also massage his muscles If you would like to access information
so that he didn’t feel uncomfortable and and support visit our website
in as much pain due to this awful disease. www.mndassociation.org/ypinfo
I learnt about how much MND affects or contact 0808 802 6262 or
people and what they have to go through youngconnect@mndassociation.org
in order to live with this disease. Emily and her Grandad John Boulton
Information updates
Making the most Carers hub: following End of life – a guide Information sheet Information sheet
of life with MND: work on our About for people with motor 10A – Benefits and 10E – Work and MND:
our new A5 booklet MND web pages, our neurone disease: our entitlements: this we have updated our
explores ways to adapt hub for carers, family award-winning guide popular sheet has guidance for people
to life with MND, yet and children has also has been revised and been revised and with MND and carers,
maintain interests. been redeveloped. updated. This resource condensed to make it on decision making
Feature pages introduce Finding the information is helping to build a easier to reference. It about continuing or
people living with MND you need should now bridge between families now includes guidance leaving employment,
and their carers, who be easier, with simple and professionals, about our new Benefits and your rights.
share their approaches drop-down selections. during difficult Advice Service.
to life, hobbies and Explore the hub at: conversations about
experiences. www.mndassociation. end of life decision
See page 8 and 9. org/carers making. It now includes
references to the NICE
guideline on MND.
You can download our resources at: www.mndassociation.org/publications
or order printed copies from our MND Connect helpline: 0808 802 6262, mndconnect@mndassociation.org
www.mndassociation.org 17Specialist posts to support people with MND
Zoe-Anne Gaymes and Liz Garrood
W
E know the difference nurse specialist. Award-winning broadcaster “Once a patient has been referred to me,
specialist roles can make the late Stephen Rhodes, was highly I will contact their GP to request a copy of
supporting people with MND. instrumental in the campaign and as their medication and a clinical summary,
So, in partnership with the NHS, we are Campaigns Contact for the Luton and along with any clinics they attend. I then
establishing some new roles in Bedford South Beds Branch, helped to persuade the visit the patient. I am always very honest
and Luton. These posts will help reduce Bedfordshire CCG to joint-fund the post. with my patients and when we talk about
unplanned hospital admissions and enable the support they would like, I outline what
people to stay at home with their loved is realistic.
ones for longer. “My work helps to simplify things for both
Zoe-Anne Gaymes, Rare Neurological patients and professionals, who benefit
Conditions Clinical Nurse Specialist and Liz from a co-ordinated service, with regular
Garrood, Specialist Neurological communication. This in turn empowers
Co-ordinator have been recruited to two of patients, allowing them control to make
these new posts and speak to Thumb Print informed choices about their care.”
about how they are improving the care Services in both areas are stretched, but
people with MND receive. having seen the difference these roles can
Zoe-Anne is based at St John’s Hospice make, Liz is positive about the future. “When
in Bedfordshire and supports people with I was employed as a specialist neurological
MND across the county. Zoe said: “Specialist nurse in Hertfordshire, we set up a similar
nurses are especially valuable in complex service that demonstrated improved access
cases. I support people in their own homes, to timely care and enhanced quality of life
as well as working with local healthcare for people with MND and their carers. It also
Stephen Rhodes
professionals to improve their knowledge reduced unplanned hospital admissions
of MND. Zoe continues: “I am the first point of saving the CCG £500,000 a year.”
“Previously people with rare neurological contact for patients, so they need just one
conditions in this area would have to see number to call. Being based at the hospice, Last year we provided funding
many different healthcare professionals in it is also a good way to introduce patients to establish three new specialist
many different settings, but my role now to a hospice setting, without them feeling practitioner posts in Bedfordshire,
ensures a co-ordinated and joined-up that hospice means end of life care.” Bath and North East Somerset and
approach to care.” Liz Garrood’s role covers Luton and is Swindon. We also part-funded a
Zoe-Anne’s role was the result of a based at Keech Hospice Care. Liz said: “I Neuropsychologist in Middlesbrough
campaign by the MND Association am with the patient on their journey from to focus on behaviour and cognitive
for Bedfordshire Clinical Commission diagnosis, right up until the very end. I am function. Six further roles are
Group (CCG) to joint-fund with the MND the patient’s advocate and I provide them currently being rolled out.
Association, a rare neurological conditions with a single point of contact for their care.
18 www.mndassociation.orgMND Register now launched
W
hilst genetics continue to give Kirsten Kelly, Research Programmes
us an insight into the disease, and Partnerships Manager at the MND
the causes of MND are likely Association said: “There are many small
to involve a complex combination of contributory factors that may combine
genetic predisposition and environmental together to tip the balance towards a
factors. In a previous edition of Thumb person developing the disease. Our MND
Print we reported on the development Register is a unique opportunity to help us
of a register of people living with MND in collect information from people living with
England, Wales and Northern Ireland. The and Northern Ireland. People with MND MND, in a central place for researchers
MND Register is a research study funded may be invited to take part during an to be able to find out what these small
by the MND Association and led jointly appointment at their MND clinic. They are contributory factors may be.
by Professor Ammar Al-Chalabi at King’s also able to take part online via the project “We hope that as many people with MND
College London and by Professor Kevin website: mndregister.ac.uk as possible are able to sign up. This can
Talbot at Oxford University. The aim is to collect information about either be through their care centre, clinic or
every person with MND. The information direct via the website. The MND Register will
“The MND Register is a unique collected can be used to learn how a be an invaluable tool to help us understand
opportunity to help us collect person is affected by MND, how the more about MND and help us answer the
information from people living condition progresses and how many question, what causes MND?
with MND in a central place for people have MND in different areas. This
will allow research into the causes and Anyone who has been diagnosed
researchers.” characteristics of MND and help inform with MND and who lives in England,
Identification of environmental factors care planning. Wales or Northern Ireland is
has so far been slow, with little definitive The Register will connect people with encouraged to take part in the study
progress to date. However, now the MND to researchers, including those and share their information.
register is up and running, researchers conducting clinical trials, and will Thank you to everyone who have
will be able to explore the environmental provide valuable information to guide already or will submit their details
causes of MND in more detail. the future development of care services. in the future and help us to gain
The register consists of a database and MND is relatively rare, so it is important to knowledge about MND. Take part
website that will hold information on collect information in as complete a way online at www.mndregister.ac.uk
every person with MND in England, Wales as possible.
www.mndassociation.org 19You can also read
