National
Amyloidosis
Centre
News
Professor Philip Hawkins FMedSci, Director of the NAC, speaking at the 5th Annual UK Amyloidosis
Network meeting at the Royal Free Hospital, London.
Introduction
The first half of 2013 has been a busy and productive period at the National
Amyloidosis Centre. The number of patients referred to us has continued to
increase steadily by about 15% per year.
In February the NAC hosted 130 participants from all around the UK at the
Fifth Annual UK Amyloidosis Network (UKAN) meeting. The UKAN, a national
network of clinicians and researchers with an interest in amyloidosis, has
grown exponentially since it was conceived by Dr Ashu Wechalekar and
founded by the NAC consultants in 2009 as a yearly forum for promoting
earlier diagnosis and clinical and research excellence in amyloidosis. Back in
2009 most participants in UKAN meetings were haematologists, but the 2013
meeting also included many cardiologists and nephrologists, reflecting the
growing recognition of the importance of a multidisciplinary approach to
amyloidosis. There were lectures by NAC consultants and research fellows
and by eminent guest lecturers from Spain and the US.
Patient
representatives from the newly formed UK Amyloidosis Advisory Group
(UKAAG) also attended.
A new patient information website at
http://www.amyloidosis.org.uk/ has been launched under the auspices of
UKAAG.
The doctors at the NAC authored and co-authored several recently published
papers on a new magnetic resonance (MR) technique called “equilibrium
contrast-enhanced imaging.” This technique holds promise for improved
monitoring of amyloidosis in the heart. Other recent publications by the NAC
consultants have included a state of the art update on AL amyloidosis for
treating physicians, a review of the literature on hereditary fibrinogen
amyloidosis and co-authorship of a European collaborative study of
treatment outcomes in patients with late stage cardiac AL amyloidosis. This
is the largest study of its type, as these patients had previously been poorly
studied.
ISSUE 2: October 2013
IN THIS ISSUE
Introduction
1
Patient stories:
The Nicholas twins
2
Hereditary amyloidosis
fact-file
4
More on
hereditary amyloidosis
5
Patient & carer story:
Martin and
Cheryl Bolton-Smith
6
Fundraising
8
A letter of thanks from
Professor Sir Mark Pepys
9
Donations
National Amyloidosis Centre, UCL Division of Medicine, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK
www.ucl.ac.uk/medicine/amyloidosis
10
National Amyloidosis Centre News
2  Issue 2: October 2013
Patient stories: Vincent and Keith Nicholas
Our mother passed way from familial
polyneuropathy (FAP) in 1991 at the age of 66.
amyloid
In 1989, after she had suffered four years of invasive
procedures and misdiagnoses, doctors suggested that
she may have amyloidosis. Soon after this, our father
mentioned her illness to a man he met in a local shop.
On hearing that this man was a doctor, our father asked
in desperation if he knew of anyone who specialised in
amyloidosis and amazingly he did. The following week
my father had a phone call from
the Hammersmith Hospital inviting
my mother and him to attend a
consultation
with
Professor
Mark Pepys and Dr Philip Hawkins.
Tests showed that she had familial
amyloid polyneuropathy (FAP) but
unfortunately her condition was
too advanced for her to undergo a
liver transplant.
After she was diagnosed,
realised that other relatives
probably also died from
condition. Since then FAP
been diagnosed in several of
uncles, aunts and cousins.
we
had
this
has
our
Vincent’s story:
how we progressed. We went through extensive blood
and nerve tests and scans - sometimes twice a year.
Later we had heart and rectal biopsies.
My symptoms started when I was 50 years old. I can pin
point the exact date as I noticed pins and needles in my
hands and feet at my youngest daughter’s birthday party
on 6th October 2009. I went to get some shopping and
ran from the car quickly and after 10 metres I started to
feel dizzy and had to sit on the floor quickly. Around this
time I began to go off some foods
and had diarrhoea. I felt dizzy
when climbing stairs and lost
feeling in my feet and legs. I had
to have a pacemaker with a
defibrillator fitted to regulate my
heart rate.
Keith had similar symptoms to
me, and we discussed the
situation with Professor Hawkins
and the amyloidosis team. It was
established that the only possible
option would be to have a liver
transplant. There was no proof
that this would work – so we were
between a rock and a hard place
when being faced with our
decision. What else could we do
except go for it!
I and my identical twin brother,
Once a matching liver became
Keith, were only 30 years old when
Vincent and Keith celebrating the first year
anniversary after their liver transplants
available I had the transplant.
our mother was diagnosed. After
This was in February 2010. Keith
talks with Dr Hawkins we felt that
had
his
transplant
six
months
later.
we would like to help the doctors with their research and
decided to see if we had the gene. We were informed
I initially took six medications per day including diflunisal,
that we would need to be mentally and emotionally
midodrine, anti-rejection drugs and warfarin. I spent 3
ready to receive the news/diagnosis. When we were 35
months in hospital and had blood tests every day –
years old, we decided to go ahead and after a routine
sometimes twice a day. This was the worst thing for me!
blood test. Dr Hawkins told us that we had both
On returning home I suffered some collapses due to low
inherited the mutation that causes FAP. My wife and I
blood pressure and weight loss and had to be
wrote a ‘bucket list’ as we didn’t know how long I had to
re-admitted to hospital. Following the liver transplant I
live. My twin brother Keith felt that the knowledge that
was more outspoken. This has remained although
he had FAP did not affect how he lived. He put the
softened somewhat. I continue to look at life in a more
problem to the back of his mind as he believed he did not
black and white way although procrastination can be a
need to worry until the day the symptoms would present
problem!
themselves.
Even though we had no symptoms we were monitored
on an annual basis by the National Amyloidosis Centre
which was then at the Hammersmith Hospital. This way
they would be able to use us in their research and see
The side effects of the drugs, liver transplant and the
amyloidosis have included low blood pressure especially when walking up stairs and slopes/hills; poor
circulation in the feet, legs and hands which can make it
National Amyloidosis Centre News
difficult to walk; loss of sensation in my extremities; loss
of sexual function and interest in anything of a sexual
nature/sex drive; loss of physical strength and stamina;
difficulties with vision in bright sunlight; I can only drink
certain coffees and eat certain foods as my body rejects
others quite vehemently! I have had to accept that the
number of tasks that I can manage on a daily basis has
had to be reduced – both at home and at work. My
whole lifestyle has had to be re-evaluated and my family
have also had to adjust. My wife has had to rise to the
challenge of taking on many more manual tasks that I
would have previously been able to manage – moving
heavy furniture, heavy gardening jobs, etc.
I have returned to work on a full time basis with my job
description being altered to adjust to my strengths. I
only need to take four tablets a day now. I try to swim
every so often and I have foot and leg massages which
give my feet more feeling and lessen some of the pins
and needles. Some days I have more energy than others.
I can fall asleep almost anywhere when I am really tired.
This is not always appreciated when my wife is required
to go out to work, look after me, our home and our two
daughters – 9 and 11 years of age! I find it difficult to
walk very far or to cycle at a fast enough speed for my
children. It all seems to take a lot of effort. My family
and I are happy that I am still here though!!
As I was the first in the family to go through the liver
transplant I have been able to support other family
members – my twin and cousin. Keith and I discussed
who would ‘go first’. I decided to go first even thought I
am the youngest twin – by 45 minutes! We now have
other cousins who are on the waiting list around the
world, who we have been in close contact with.
Keith’s story:
Like Vincent I started to experience pins and needles in
my hands and feet, stomach problems and fatigue when I
was 50 years old. I had the amyloidosis symptoms for six
months longer than Vincent, so my weight had already
decreased and neuropathy bowel problems were so
severe that there was a chance that I would not be well
enough for a liver transplant which was my only hope of
survival. This was a very, very emotional time. I felt that
my life was over as I didn’t want to go through what my
mother, uncle and aunt had suffered. I had watched
them all die a slow and very cruel death. But my family
and friends helped me through and pushed for the
transplant.
I had my pacemaker fitted and waited. Once a liver
match had been found it was decided that the transplant
could take place. Phew! I knew what I was getting into
Issue 2: October 2013  3
as I had seen what Vincent had been through and after
all, I had said that I was happy for him to go first!
As for the drugs, because Vincent had been through it
first they had a better idea of which drugs and doses I
should take. They knew I may fall over/collapse so were
ready for this. That day did arrive – and I was at home!
Luckily a friend was there to pick me up and phone
Vincent. We only live about 30 minutes away from each
other. They took me to London, to the Royal Free
Hospital where I stayed for 8 weeks. Because of my low
blood pressure and muscle wastage I had to learn to walk
upright again, first with a Zimmer frame and then a
walking stick, small steps at a time. I would never have
achieved this if not for the persistent help from a
wonderful but forceful doctor friend. I took midodrine
for low blood pressure, which made my head itch.
Eight months after the liver transplant I returned to work
full time. It is understood that sometimes I need to work
from home and I take it easy on occasions, otherwise I
get very fatigued. Like Vincent I have had to adapt my
lifestyle to accommodate the amyloidosis symptoms and
their effects. I occasionally swim and go to the gym –
trying to build up my muscles and stamina. My friends
and family are very understanding. Like Vincent, my
outlook on life has changed in that life is too short to
worry about the mundane things.
Familial amyloid polyneuropathy (FAP)

FAP is the most common form of hereditary systemic
amyloidosis. In people with FAP, a blood protein called
transthyretin (TTR) is the amyloid precursor protein
that forms amyloid deposits. FAP is one of three
distinct, different types of ATTR amyloidosis.
TTR is a normal blood protein present in everybody.
Most TTR in the body is made in the liver. People who
are born with inherited mutations in the TTR gene
produce abnormal “variant” TTR throughout their lives.
The “variant” TTR is amyloidogenic (amyloid forming).
Over the course of several decades, people like Vincent
and Keith with inherited TTR gene mutations may
develop symptoms of disease caused by the build-up of
amyloid deposits.
Liver transplantation is a treatment option for some
people with FAP. The liver which makes the “variant”
TTR is removed and replaced by a donor liver making
normal, “wild-type” TTR. The aim is to prevent the
formation of further amyloid deposits by reducing the
supply of the amyloid forming precursor “variant” TTR.
National Amyloidosis Centre News
4  Issue 2: October 2013
Our message to amyloidosis sufferers, especially those
with FAP:
There is now more hope for those diagnosed with
amyloidosis as new drugs are being developed that will
treat this without – hopefully – having to go through a
liver transplant. Early symptoms of FAP need to be
recognized so that, if appropriate, patients can be placed
on the transplant list as soon as possible.
It is important to seek out a good counsellor and to have
a good support network – whether this is family or
friends. Ours have been and continue to be wonderful.
You really need them! An understanding boss is essential
– which amazingly we both have. We witnessed patients
on our wards who did not have supportive employers
with the result that they lost their jobs, then their homes
– because they could not meet their mortgage payments
– and on one occasion the marriage broke down
completely. It is also important that you need to accept
your limitations. It has taken us a long time to adjust to
this!
Have faith in the amyloidosis and liver transplant teams
as they really know what they’re doing. Inform them of
anything that you are worrying about regarding your
health – then they can help. If you don’t tell them – they
can’t. Be aware that the initial tests can be onerous –
electric shock tests, hands in iced water etc.!!!
It is important to remember that the time waiting on the
liver transplant list can be very emotionally draining –
feeling on tenterhooks every time the phone rings! Is it
time?! Also feeling that you may not be coming back
from the operation whilst driving to the hospital and how
important it is to get your house in order as soon as you
have the diagnosis.
Thanks need to go out to all our families and friends,
without them we would not be where we are today
(three years on). This journey has brought us all much
closer. They have taken days off work to drive us up to
London in the early days after the liver transplant as we
live about 2 hours away; they have picked us up off the
floor when we have collapsed; they have brought us
food; cared for us – even the really personal stuff; gone
through hell and high water emotionally whilst waiting
for us to come out of theatre. Our bosses and work
colleagues have been equally amazing – bearing with us
when we didn’t feel up to much, when we collapsed after
walking up the stairs as well as taking us to the station to
get us home, lift sharing, carrying our bags and lending a
helping hand when needed. We also want to thank the
wonderful teams of professionals that have carried us
through this experience, as well as Vincent’s GP surgery
who have funded his medication. Without all of these
individuals we would probably not be here today. A scary
thought!
Hereditary amyloidosis fact-file
AL amyloidosis, AA amyloidosis and ATTR senile systemic amyloidosis are not inherited conditions.
But there are a number of different types of hereditary (inherited) amyloidosis, as
shown in the Table on the next page. These conditions are rare, affecting around 12%
of the patients seen at the NAC. Some otherwise rare forms of hereditary amyloidosis
are common in local regions of Portugal, Sweden and Japan where the descendants of
a ‘founder’ patient or patients have lived for many generations. In recent years the
diagnosis has been made more frequently than it was in the past, as diagnostic
techniques and understanding of genetics have progressed. Research into these rare
diseases has greatly helped to shed light on the commoner types of amyloidosis.
What causes hereditary amyloidosis?
Hereditary amyloidosis is caused by inheritance of an abnormal copy of a gene, known as a mutation. These mutations lead to
lifelong production of an abnormal, amyloid forming (“variant”) form of a normal protein. The Table on the next page lists the
different types of gene mutation that can lead to formation of a “variant” protein that can be amyloidogenic.
When do symptoms usually start?
People with mutations causing hereditary amyloidosis produce an abnormal, amyloidogenic “variant” protein throughout their
lives. Over the course of several decades, usually by the time these people are middle-aged or older, they may develop symptoms
of amyloidosis. Different types of hereditary amyloidosis can cause a wide variety of different symptoms, affecting different parts
of the body, and appearing at different ages. Disease manifestations may differ quite considerably between different families with
the same type of hereditary amyloidosis and even between individuals from the same family.
What are the chances of children being affected?
Inheritance of hereditary systemic amyloidosis syndromes is “autosomal dominant.” This means that the presence of just one copy
of a mutated gene, passed down from one parent, can cause the disease. Each child born to a parent with hereditary amyloidosis
has a 50% chance of inheriting the mutated gene. However, not all people who inherit one of these mutations will actually develop
clinical problems. Some people with a mutation develop only a small and insignificant amount of amyloid in their body and others
seem to accumulate none at all. This is called incomplete penetrance.
National Amyloidosis Centre News
Issue 2: October 2013  5
Different types of hereditary amyloidosis
(in order from most to least common)
Name of hereditary amyloidosis
syndrome
Name of the gene
which contains a
mutation
Name of
amyloid type
Symptoms
Familial amyloid polyneuropathy
(FAP)
TTR (transthyretin) gene
ATTR amyloid
•
•
•
•
Neuropathy (nerve disease)
Heart disease
Carpal tunnel syndrome
May be eye, kidney and spleen
disease
Hereditary amyloid
cardiomyopathy
TTR (transthyretin) gene
ATTR amyloid
• Heart disease
• Carpal tunnel syndrome
Hereditary fibrinogen A α-chain
amyloidosis
Fibrinogen A α-chain
gene
AFib amyloid
• Kidney disease
Hereditary apolipoprotein AI
amyloidosis
Apolipoprotein AI gene
AApoAI
amyloid
• Kidney disease
• High blood pressure
• May be heart, liver, spleen
disease
Hereditary apolipoprotein AII
amyloidosis
Apolipoprotein AII gene
AApoAII
amyloid
• Kidney disease
• High blood pressure
• May be heart, liver and spleen
disease
Hereditary gelsolin amyloidosis
Gelsolin gene
AGel amyloid
• Eye disease
• Skin disease
• Cranial nerve disease
Hereditary lysozyme amyloidosis
Lysozyme gene
ALys amyloid
• Kidney disease
• Liver disease
• Stomach disease (rare)
Hereditary β2-microglobulin
amyloidosis
β2-microglobulin gene
Aβ2m amyloid
• Bowel disease
Rare hereditary amyloidosis may help unlock amyloidosis mysteries
All patients with amyloidosis may eventually benefit from
recent discovery of an extremely rare type of hereditary
amyloidosis, in which the amyloid deposits consist of a
“variant” form of a protein called β2 (pronounced
“beta-2”) microglobulin, or β2m. Study of this newly
discovered variant protein may help to provide fresh
insights into a number of fundamental unanswered
questions about amyloidosis. Why do amyloid deposits
form when and where they do? Why do different
patients with same type of amyloid develop amyloid in
different organs? How can we prevent amyloid deposits
from forming and how could we remove them?
Four members of a single French family were diagnosed
with amyloidosis affecting the gut, spleen and autonomic
nerves. Doctors only diagnosed hereditary amyloidosis
after some of the four had been ill for up to 20 years.
After tests for the known types of hereditary amyloidosis
came back negative, researchers employed a new, state
of the art technique called “proteomics”, which showed
National Amyloidosis Centre News
6  Issue 2: October 2013
that the French patients all had a type of hereditary
amyloidosis that had never been described before, with
amyloid deposits made of β2m. Genetic tests confirmed
that all four affected patients had a single, previously
unknown, mutation in the gene for this protein.
However it has long been known that normal β2m can
form amyloid because patients with kidney failure who
were treated for years by dialysis often developed β2m
amyloid deposits. This resulted from high concentrations
of β2m in the blood because this protein was not
efficiently cleared by dialysis procedures. Dialysis related
β2m amyloidosis has become less common since new
dialysis procedures have improved the clearance of β2m
but it remains a significant problem.
Professor
Vittorio Bellotti at the UCL Wolfson Drug Discovery Unit
in the Centre for Amyloidosis and Acute Phase Proteins,
has studied β2m as a model of amyloid fibrillogenesis
(fibril formation) for many years and led the remarkable
new studies of the variant β2M.
In dialysis related β2m amyloidosis, amyloid deposits are
mainly in the bones and joints and consist of normal β2m,
not variant β2m. This condition is not inherited. Neither
β2m amyloid affecting the gut, spleen and nerves, nor
hereditary β2m amyloidosis, had ever been seen before.
Hereditary systemic amyloidosis due to a mutation in the
β2m gene is a very different condition from dialysis
related β2m amyloidosis.
Further research showed that the variant β2m produced
by the mutation present in the French patients is the
most amyloidogenic protein ever seen. It forms amyloid
deposits very readily and swiftly in the laboratory and
provides an ideal, unique opportunity for detailed study
of the process whereby amyloid deposits form. The
newly discovered mutated β2m will help Bellotti and his
team to unravel some of the mysteries about how,
where and why amyloid deposits form. It will also be
very useful for testing experimental drugs aimed at
preventing formation of amyloid deposits and removing
existing deposits.
“When the going gets tough, the tough get going”
Cheryl and Martin Bolton-Smiths’ story
Cheryl's early experience of amyloidosis began in 2008 at
the age of 50 and follows the pattern of many patients.
It took until 2011 to arrive at a correct diagnosis. During
that time, in addition to losing a much loved father,
Cheryl suffered symptoms with which many sufferers will
be familiar: extreme tiredness, severe weight loss, low
blood pressure, loss of appetite, altered taste, abnormal
and frequent stomach cramps and diarrhoea. During this
time Cheryl had a hysterectomy, had helicobacter
infection twice and on occasions collapsed and had to be
hospitalised. Despite numerous tests, doctors struggled
to find a reason for her symptoms. Irritable bowel
syndrome, depression, stress and recovery from the
surgery were all suggested as possible culprits. Cheryl
had been a very active dancer but had to abandon her
passion soon after her illness took hold. Throughout the
summer of 2009 Martin, a London taxi cab driver, had to
give up work to care for her. With Cheryl's debilitating
and often life threatening symptoms, there had to be
something seriously wrong and Martin had to plead with
the local doctors to investigate Cheryl's condition
further. Cheryl was tested for several serious diseases
including cancer but the tests proved inconclusive. She
had endless consultations, some of them private. Martin
considered selling assets such as their home and his taxi
cab, which was his source of income, if it meant Cheryl
would get better.
Cheryl was admitted to St George's Hospital, Tooting, in
March 2011 where she remained for 9 weeks. She was
given several drugs to help with the diarrhoea and low
blood pressure and doctors suggested that she may be
suffering from some sort of rare blood or bone marrow
cancer. Martin was very anxious when Cheryl was
discharged as to how he was going to cope looking after
her at home when she was so very ill. He was also
concerned that no definitive diagnosis had been given
and asked the neurologist treating Cheryl at St George's
if her case could be reviewed by someone more senior.
In May 2011, urine and bone marrow tests suggested
amyloidosis and Cheryl was eventually referred to The
National Amyloidosis Centre where diagnostic testing
National Amyloidosis Centre News
confirmed she had systemic AL amyloidosis. Martin
promptly did some research but found the information
difficult to understand. It was a frightening moment to
hear that Cheryl had a rare, complex and incurable
disease which neither she nor Martin had ever heard of.
However, after three years of misdiagnoses it was also a
relief to know the correct diagnosis at last. Now that
Cheryl was in the hands of the expert doctors at the NAC,
appropriate treatment could start.
Cheryl was very weak but being a fighter like her Dad,
she was determined to be positive despite suffering from
the amyloidosis symptoms and side effects from her
initial treatment with melphalan and dexamethasone.
By 2012 Cheryl had completed her cycles of melphalan
and dexamethasone and was started on revlimid, a less
aggressive oral chemotherapy drug.
Her extreme
tiredness continues and it is never possible to know what
each day will bring as the symptoms of AL amyloidosis
are not predictable. On her better days Cheryl likes to do
what she can around the house and especially enjoys
baking. She is determined that the disease will not beat
her. Her cheerful, kind nature and caring attitude
towards others are an inspiration to all and help Martin
and her sister Jessie through the dark times of wondering
what the future holds. Cheryl’s recent scan showed that
amyloid deposition had not increased but the hoped for
regression had not taken place. Now she is about to
start another chemotherapy regime.
Soon after Cheryl’s diagnosis, Martin decided that he
would do something positive towards helping research
Issue 2: October 2013  7
into the disease and so far has organised or participated
in 5 events and raised over £15,000 for UCL’s
Amyloidosis Research Fund. He also feels it is crucial to
raise public awareness of the disease so his ventures
have a twofold aim. He cannot help regretting that by
the time Cheryl was diagnosed, her disease was
advanced and more difficult to treat. In Horsham, where
he and Cheryl live, Martin has come to be known as “The
Fundraiser Man” and has demonstrated a powerful
determination to raise money for the UCL Amyloidosis
Research Fund until a treatment is found that will
improve the quality of life for sufferers. Martin has set
himself tough sporting challenges taking up marathon
running at the age of 53. His latest achievement was
completion of the Brighton Marathon on April 14th 2013.
Martin sometimes feels overwhelmed and wonders how
he can keep going with his training, working full time,
family pressures and caring for Cheryl. He only has to
remind himself of Cheryl’s suffering and his loving
commitment never falters. His own interests have had to
take a back seat but this is not important to him as
amyloidosis has robbed Cheryl of living the life she loved.
Martin’s advice to anyone finding themselves in a similar
position is to never give up hope, to fight this terrible
disease with all your emotional and physical strength and
put your faith in the wonderful doctors at the NAC.
Turning positives into negatives is Martin’s way. He asks
all sufferers and carers to give generously to fundraising
efforts that will ultimately benefit them too. This will
gladden his heart and, he hopes, hasten the day that an
anti-amyloid drug will become available to all.
National Amyloidosis Centre News
8  Issue 2: October 2013
Fundraising
£16,500 raised for The UCL Amyloidosis Research Fund
By Pat Pinchin
Since December 2011, Martin Bolton-Smith has raised over £16,500 for the UCL Amyloidosis Research Fund. Here are the
events he has organised. He hopes they will inspire others to take up the challenge and organise a charity fund-raising
event for the NAC:
•
•
•
•
•
•
Bowls challenge at a Horsham bowling club – December 2011
Golf day – tournament between local clubs with Martin also setting himself a personal challenge of
completing the 18 holes within a time limit – March 2012
Flog It at a local pub – April 2012
Cabbies’ collection 2012 and 2013 – Martin is a London cabbie and he spent 2 days at Heathrow airport
collecting for amyloidosis with donations from his work-mates
Barnes Green Half Marathon – Sepember 2012
Brighton Marathon – April 2013
On Thursday, April 4th, Martin Bolton-Smith was presented with a cheque for the money he had raised by his participation
in the Barnes Green half marathon. The presentation ceremony was held in Guildford by the Surrey Freemasons, who had
allowed Martin to use their “my donate” affiliation for his fundraising. After receiving the cheque, there was a surprise
accolade in store for Martin. As none of the 5 senior members of the small NAC medical team were able to attend,
Professor Sir Mark Pepys, who established the National Amyloidosis Centre and the UCL Centre for Amyloidosis and Acute
Phase Proteins, and is now Director of the UCL Wolfson Drug Discovery Unit, had written a very warm letter in which he
expressed his personal appreciation of Martin’s charity work and the generosity of his donors. The full letter appears on
the next page.
Martin’s speech and Sir Mark’s moving words made such an impression on the audience that more donors for Martin’s
next appeal (the Brighton Marathon on April 14th), promptly came forward.
True to form Martin is already thinking about his next challenge and fundraising event for the Amyloidosis Research Fund.
If you would like to contact Martin for ideas of how to set about organising your own charity event for amyloidosis, please
contact him: m.boltonsmith@ssesurf.co.uk.
London to Paris for Amyloidosis!!
By Jo Jerden
On 26th September 2013 four of my colleagues (and one of their partners)
undertook the gruelling (but scenic) ride from London to Paris in aid of
raising further funding towards amyloidosis research, and more
specifically the Cover Slipper Fund. Nick Jones, Tim Godden, Paul Brown
and Simon Greenhalgh traded in their desks for four days and 279 miles of
pedalling. The Cover Slipper Fund was set up following my diagnosis of
amyloidosis in 2012. Our specific aim is to provide the Centre with funds
towards a much needed piece of equipment called a Coverslipper
Machine which will help the histologists to prepare both clinical and
research slides. With the help of relatives, friends and colleagues
undertaking mountain climbing challenges, hosting tea parties and the
likes, we have so far raised £12,000 of the £23,000 target. I am totally in
awe of the challenge these guys undertook - I know for sure my bottom
would be too saddle sore to endure this for more than an afternoon!
It would be great if you could show your support for the team by visiting
http://www.justgiving.com/Joanna-Jerden-CoverSlipperFund.
More details of the Fund can also been seen on this site.
National Amyloidosis Centre News
Issue 2: October 2013  9
A letter of thanks
From Professor Sir Mark Pepys
Dear Martin
It is a great pleasure and a privilege for me to thank you, once
again, for your absolutely magnificent fund raising efforts on
behalf of the UCL Amyloidosis Research Fund which supports the
Centre for Amyloidosis and Acute Phase Proteins and its UK NHS
National Amyloidosis Centre. The wonderful sum you have now
raised derives from the immense generosity of many donors and
we are very grateful to everybody concerned.
Amyloidosis is a relatively rare and very unpleasant condition
which damages the health and shortens the life of almost all
individuals who have it. We and our colleagues in this field
around the world have made, and are making, substantial
progress but much remains to be done.
I started to work on amyloidosis in 1976 and nearly 40 years on
knowledge of the disease, its diagnosis, its treatments and its
outcome have all improved dramatically. My group and I have
contributed some of the key innovations and developments and,
since 1999 we have had invaluable support from the charitable
donations to the Amyloidosis Research Fund.
From 1979 all my work was funded by the Medical Research
Council, which distributes government, that is the tax payers’,
money for medical research. By 1990’s we had become the de
facto national referral centre for amyloidosis and when we moved
from Hammersmith Hospital to UCL and the Royal Free Hospital in
1999, the Department of Health had created a scheme for direct
funding of highly specialised NHS services. I applied successfully
for establishment and funding of the National Amyloidosis Centre
and appointed my colleague, Professor Philip Hawkins, who had
trained and then worked with me since 1986, to be its Clinical
Director. At that time we were seeing about 300 patients per
year. Now he and a total of about 50 staff in the National
Amyloidosis Centre see more than 3,000 patients per year and
that number comprises a doubling in the past 5 years. So far this
massive increase, enabling us to deliver the world’s best diagnosis
and management advice for amyloidosis, has been generously
funded by the Department of Health and also supported by the
Royal Free NHS Trust and the Royal Free Charity. Unfortunately,
the future with the new NHS reorganisation is very unclear and
uncertain.
In parallel with the tremendous development and progress in
clinical service delivery for patients, I have been focussing on
design and development of new approaches to treatment of
amyloidosis, especially measures to remove amyloid deposits
from the tissues and organs where they are causing damage and
thus disease. To pursue this goal, I retired in 2011 as Head of the
Division of Medicine at the Royal Free Campus of UCL and
became Director of the UCL Wolfson Drug Discovery Unit, which I
set up for this purpose. Sadly, drug development, that is the
invention of new medicines and all the work needed to make
them available for patients, is generally agreed to be the slowest,
most difficult and most expensive undertaking conducted by the
human race! It is quicker and easier to send a man to the moon!
Nevertheless we are making progress. GlaxoSmithKline, one of
the world’s largest and best pharmaceutical companies, has
licensed some of my patented inventions of new potential
medicines and we have been developing them together for the
past 4 years. Finally in April this year, GSK will start clinical testing
in amyloidosis patients of the most developed of my new
treatments. If the new treatment is safe, we may know within
the following year whether it is also effective and whether it is
sufficiently promising to justify the hundreds of millions of
pounds which will then have to be spent to make it into a real
medicine, available for amyloidosis patients generally. Other
developments, both in the Wolfson Drug Discovery Unit and in
laboratories and companies around the world, also promise much
hope for the future.
The very long, slow and costly processes of research and
development are almost entirely funded by government, that is
tax payers, by medical charities and by industry. But in all cases,
obtaining the funding is also slow and it is invariably rigidly
awarded for particular tasks. Also our relationship with GSK
requires us to provide the expertise and facilities which are our
strength, and these are not funded by the company; revenue will
flow to our institutions only if and when we have a successful
medicine. This is incompatible with the highly speculative nature
of original discovery research when you never know what results
will emerge, what new methods, techniques, equipment or
personnel and skills may be needed to solve problems and make
progress.
Here the Amyloidosis Research Fund plays an
invaluable role by enabling us to move swiftly to seize whatever
opportunities arise, whether it is to purchase an essential piece of
equipment or a special chemical or other reagents for
experiments, or to obtain specialist expertise or services, or
employ a new person to do a specific and necessary job in the
laboratory or the clinic.
I cannot overemphasise the importance of having this priceless
flexibility. It has contributed on a daily basis to all the progress
we have made, which is reflected by our many high impact
publications, our new inventions and patents, our uniquely strong
relationships with GSK, representing the pharmaceutical industry
without which there would be no drugs, our many high value
research grants from the MRC, the Wellcome Trust and other
bodies, and, of course, our entirely NHS funded clinical service
which exists to care for the patients who are at the heart of
everything we do. Every single person who has donated to the
Fund and every individual who has helped to stimulate and
organise these donations should be very proud of what they have
done.
I am extremely sorry that I am abroad at this time and thus not
able to be present in person to thank you and to explain further
the great significance of what you have done and are doing. I
earnestly hope that I shall have the opportunity to do so in the
future.
With kindest regards and all best wishes
Professor Sir Mark Pepys
Director, Wolfson Drug Discovery Unit
National Amyloidosis Centre News
10  Issue 2: October 2013
Donations
To ensure that your donations go directly and exclusively to the NAC, please send directly to us or contact Beth Jones on
020 7433 2802 or beth.jones@ucl.ac.uk. Donations to the fundraising activities mentioned on page 8 will also come directly to NAC.
All university based medical research depends on funds that
are fought for in open competition (grants) from the
Government-funded Medical Research Council and other
charitable bodies. Their renewal depends on a successful
research programme and the NAC has an excellent track
record in this respect. However, there are constant shortfalls
and every penny from other sources is received with sincere
gratitude, and is used specifically and in its entirety for
amyloidosis research. You can make an online donation at:
http://www.ucl.ac.uk/medicine/amyloidosis/research_fund
or make a donation by post. A gift aid form is included here
and is also available online or from:
Beth Jones
National Amyloidosis Centre
Division of Medicine, Royal Free Campus
University College London
Rowland Hill Street
London NW3 2PF UK
UCL Medical School is part of University College London (UCL)
which is a registered charity. Due to changes in the Budget
nearly all gifts given to UCL now qualify for the Gift Aid
Scheme. This increases the amount of the gift by 28% without
any extra cost to the donor. It does so by allowing UCL to
claim back the basic rate tax paid by the donor. To qualify for
Gift Aid the donor must be a UK taxpayer and his/her
combined income and capital gains tax bill must equal or
exceed the amount UCL claims back on the gift. The gift can
be for any amount and applies to one-off gifts and regular gifts
made over a number of years. For UCL to claim the tax
benefits the donor must make a "Gift Aid Declaration". One
declaration will cover all future gifts and may be cancelled at
any time. Cheques should be drawn in favour of "UCL
Development Fund". This money is then transferred to the
Amyloidosis Research Fund together with the reclaimed tax. If
a donor does not qualify for the Gift Aid Scheme or does not
wish to contribute in this way, cheques should be made
payable to: "UCL Amyloidosis Research Fund".
2014 calendars now on sale
All proceeds to the Amyloidosis Research Fund
National Amyloidosis Centre calendars for 2014 are now
on sale, produced and donated by John Plant, a patient
with amyloidosis and a professional photographer. All
proceeds will be donated to the UCL Amyloidosis Research
Fund.
The calendar is in a landscape CD case (184 mm x 106 mm)
with 14 pages printed in full colour - 1 month per page
including cover and rear cover. It is ideal for the office or
home and stands on a desk or table. They make perfect
"stocking fillers".
Calendars cost £5.00 from Reception at the National
Amyloidosis Centre, or £7.50 including postage and
packaging (to UK addresses only), if ordered from
www.johnplantimages.co.uk. Payments can be made
securely using Paypal.
Alternatively, contact John using the contact page on his
website and he will call or email you to make other
arrangements such as payment by cheque or delivery to
addresses outside the UK.
 Newsletter funded by a bequest from Laura Lock 
UCL Gift Form
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PA to Professor M B Pepys FRS
Centre for Amyloidosis & Acute Phase Proteins
Division of Medicine (Royal Free Campus)
University College London Medical School
Rowland Hill Street
London
NW3 2PF
UK
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