practical information for women with amn
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cope -
hope
PRACTICAL INFORMATION
FOR WOMEN WITH AMN
(ADRENOMYELONEUROPATHY)
ALD LIFE
PO BOX 43642
LONDON
SE22 OXR
Tel: 020 8473 7493
www.aldlife.org
registered charity number 1106008
PRACTICAL INFORMATION
FOR WOMEN WITH AMN
(ADRENOMYELONEUROPATHY)
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RACTICAL INFORMATION FOR WOMEN
WITH AMN (ADRENOMYELONEUROPATHY)
You have been diagnosed with AMN
adrenomyeloneuropathy a rare inheritedmetabolic disorder that affects around one
in 20,000 people. It is so rare that only
around 30,000 men and women in the
world have the disorder.
AMN in women usually starts causing
problems around the age of 40, though
there are exceptions, although research
into new treatments is ongoing, AMN is
currently an incurable condition but there
are many things you can do to help you
and loved ones to live with this disorder.
ALD Life is Britains leading charity dealing
with your illness, run by people who have
been in the situation you are facing now
and who can help you.
Introduction
We were founded to help and support
people in your position. Our members have
been through the same ordeal and have
experienced the problems you now face.
Our members have helped compile this
leaflet, which is packed with information
patients in your position wish they had
been told.
We must stress there is no right or wrong way
of dealing with AMN but in researching this
booklet, we have spoken to many women
who have AMN and have collated much ofthe information they wished they had been
given to help them through the first stages.
We have a worldwide contact list of people
who are willing to chat about all aspects of
living with the disorder.
Please contact ALD Life on 020 8473 7493
or email [email protected]
Our website is www.aldlife.org
I TRAWLED THE
INTERNET MYSELF ANDFOUND DANGEROUS
INFORMATION. IT WOULD
HAVE BEEN GOOD TO GET
A RELIABLE AND TAILORED
INFO CENTRE LIKE ALD LIFE
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PRACTICAL INFORMATION FOR WOMEN WITH
AMN (ADRENOMYELONEUROPATHY)
Adrenomyeloneuropathy is caused by
mutations in the ABCD1 gene, the samegene which is affected in ALD, a disease
that attacks myelin, the fatty sheath that
covers the nerves in the spinal cord.
While ALD mainly affects young boys,
AMN most often appears in adult men.
Symptoms may include leg stiffness,
progressive spastic paraparesis (stiffness,
weakness and/or paralysis) of the lower
extremities, and ataxia, a neurological
condition that results in a lack of
cordination of muscle movements. Women
are less frequently affected than men.
Mobility in women with AMN gradually
deteriorates to the point where the
sufferer develops increasing problems with
mobility and may become wheelchair
bound in very rare cases.
In AMN, there is damage to the axons of
the nerve cells which control the muscles.
Axons are the parts of the nerve cells which
transmit information around the nervous
system. The nerves that run down to yourarms or your legs are made up of bundles
of axons. The axons carry information as
electrical impulses: myelin acts like an
flex in an electric cable and is wrapped
around the axons allowing them to carry
information quickly and accurately.
In AMN these axons are damaged and can
die back. The longest axons, the ones to
the legs, seem to be prone to damage in
What is amn? AMN and this is why in this disorder youusually begin to notice problems with your
lower limbs. The nerves to the bladder and
bowel are also affected.
What drugs should i be taking?
There is currently no drug on the
market that can repair nerves or cure
axon die back.
However, there are drugs available that can
help alleviate some of the symptoms of
AMN, such as stiffness.
AMN sufferers report that these drugs
seem to work for some people but not
for others.
You should discuss with your consultant
the best treatment for you to relieve thesymptoms of spasticity or you can speak
to other people with AMN via the ALD Life
website www.aldlife.org.
DOCTERS HAVE NO IDEA
HOW TO FIX US...YET
PEOPLE NEED TO BE
OPEN-MINDED ABOUTNEW DEVELOPMENTS
AND YOU SHOULD TRY
MANY THINGS TO SEE
IF THEY HELP
What about lorenzos oil?
Lorenzos oil is a blend of four parts glycerol
trioelate oil and one part glycerol trierucateoil. It was developed to try and correct the
biochemical abnormalities in the blood
which are associated with both AMN and
ALD: raised very long chain fatty acids. It was
thought that these raised fats in the blood
might be causing the damage to the nervous
system in ALD and AMN. Unfortunately,
although treatment with Lorenzos oil,
along with a special diet, does correct the
abnormalities in the blood tests, it has little
effect on disease. In young boys, treatment
with Lorenzos oil may be able to delay theonset of the brain disease ALD but, despite
what is shown in the Oscar-winning film,
Lorenzos Oil, there is no proof that it can
affect the symptoms of ALD in any way.
Clinical research has so far shown no
evidence of any effects of Lorenzos oil in
AMN and it is not recommended for
adrenomyeloneuropathy sufferers.
What tests should i have?
When you are diagnosed with AMN
you will be seen regularly by a specialistwho will monitor your condition and
any deterioration. They may arrange
electrical tests to look at the function of
your nerves and spinal cord. Although
you may have an MRI scan done as part
of the initial tests to make the diagnosis,
the brain is not affected in women with
AMN and regular brain scans are not
required. Your specialist will advise on
what treatments options are available for
your symptoms.
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4. AMN is a condition that affects your
balance and you may have difficulty with
falling over.
One of the things that affects your
balance is how your feet work. Your body
is constantly struggling to keep you
properly upright.
A problem with AMN is that you are
constantly clawing with your toes to keep
your balance. In addition, the nerves to the
feet are damaged and you may not be
fully aware of pain and high temperatures,
putting you at risk of damaging your feet.
Most people with AMN have problems withtheir feet and should be referred to an
orthotics department. The orthotist will
make inserts for your shoes, moulded to
the shape of your feet to assist with this.
One of the messages is that every little
helps. If you can improve your mobility
by five, or even three, per cent then it
really helps.
ONCE YOU FIGURE OUT
YOUR BODY ON AMN AND
GET INTO A ROUTINE THERE
ARE MANY WORSE THINGS
OUT THERE
When you are first diagnosed with AMN,
the chances are that you will have begun
to have problems with walking and
balance. Perhaps you are experiencing
bowel and urinary difficulties.
You may well have to live with these
problems for many years and we have
compiled a list of tips from AMN sufferers
that may help you to manage living with
this rare disorder.
1. Stay as healthy as you can in every
other way. Try not to get overweight and
do not eat too many of the wrong things.
That does not mean denying yourself
treats but do try to eat sensibly.
2. You will need to take exercise. If you
have never done it before, it is not too late
to start. The more you can keep your body
in tip-top condition the better able you
will be to cope with the impositions this
disease is going to cause you.
Going to the gym several times a week,
using a rowing machines, stepper, treadmill
and cross trainer will strengthen the legs,
which as well as the physical benefits can
also give a psychological boost.
3. Work on your flexibility because the
biggest problem with AMN is spasticity.
Your leg muscles become spastic, which
mean that they are artificially stimulated
by your nervous system into behaving as if
they are under tension all the time.
Physiotherapists call this excess tone. Every
AMN patient will tell you that when they
get up in the morning their legs are stiffer
than they were the night before. This isbecause during the night your nervous
system has been stimulating all your leg
muscles so you tend to walk more stiffly
than normal.
One solution to this is to develop a
stretching programme along with advice
from your physiotherapist and carry it out
on a regular basis.
Another problem caused by walking
awkwardly is that you put a lot of stresson your back. Pilates exercises centre your
core muscles. When you have a disability
like AMN, which affects your walking,
your body is forever trying to prevent itself
from falling over and the more you can
strengthen these core muscles the better.
We would advise anyone with AMN to
develop an exercise and stretching
programme and see if it helps them.
Living with amn
PRACTICAL INFORMATION FOR WOMEN WITH
AMN (ADRENOMYELONEUROPATHY)
7
THE MULTIPLE SCLEROSIS
CHARITY RUNS THERAPY
CENTRES AROUND THE UK
AND A NUMBER OF AMNSUFFERERS USE THEIR
FACILITIES, INCLUDING THE
GYM, COUNSELLING AND
THERAPIES, INCLUDING
REIKI AND OXYGEN THERAPY.
MS THERAPY CENTRES
ALSO OFFER THE SERVICES
OF A PHYSIOTHERAPIST,AT RATES THAT ARE OFTEN
MUCH CHEAPER THAN
PRIVATE PHYSIOS.
WWW.MSNTC.ORG.UK
IF I DONT HAVE MY TOE
PROPS THEN I DONT WALK
AS WELL.
I FOUND YOGA HAS
HELPED STABILISE MYCONDITION AND HELPS
ME COPE WITH
IT BETTER
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5. Some AMN patients use FES (functional
electrical stimulation). Basically it is a piece
of equipment that straps to the leg and
stimulates electrical current, which helps
your foot lift to help with your walking.
FES is now available from a number of
NHS clinics and you should ask your doctor
about getting referred for assessment.
A new walking aid has also been
developed, which some AMN sufferers
find more useful than FES. More details at
www.musmate.co.uk
Another machine that AMN patients
find useful and have recommended is a
massage bed that combines cycloidalmassage and infra-red treatment to help
relieve the effects of spasticity.
www.cyclo-ssage.com
6. Incontinence is a problem for anyone
who has a neurological condition affecting
the spinal cord and pelvic nerves, such as
Multiple Sclerosis, and AMN.
Unfortunately bowel and urinary
problems can affect AMN sufferers.
Urinary urgency, the need to rush off tothe loo straight away is common and
sometimes people do not make it in time.
Constipation is very common. These
symptoms tend to get worse as time goes
by. It is one of those sensitive areas that
people have difficulty talking about,
but treatments are available and it is
important to discuss these issues with
your doctor, who can refer you to a
urologist if necessary.
RADAR is a charity that provides access for
disabled people to around 7,000 locked
public toilets throughout the UK. RADAR
operates a National Key Scheme. For a
small fee they will provide you with a key
that allows access to disabled toilets that
have been locked to prevent vandalism and
misuse. www.radar.org.uk
ALD Life can also provide you with a card
explaining you have a condition causing
urgent need to use a toilet. Most shops etc.
will allow you to use their facilities upon
production of this card.
Will AMN affect my children?
ALD Life If you have been diagnosed with AMN
you will most likely have already had genetic
testing within your family. If this is not the case
it is imperative that you have your immediate
family tested for the ALD gene straight away,
particularly if you have young male children. ALD
is a terminal progressive disorder that can be
treated if caught early enough, hence the need
for testing at the earliest possible opportunity.
There is a 50-50 chance of passing the ALD
gene on to your children every time.Unfortunately there is no predictive test to
date to determine how the ALD gene is
going to affect an individual.
PRACTICAL INFORMATION FOR WOMEN WITH
AMN (ADRENOMYELONEUROPATHY)
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BREAKOUT
ALD is an X-linked disorder, which
means that the genetic abnormalityis on the X-chromosome. Women have
two X-chromosomes, men only one. In
women, the affected X-chromosome,
the one with the gene for ALD (Figure 1,
red chromosome), has less effect because
of the presence of a normal copy of
the gene (black chromosome) on the
other X-chromosome. Men have one
X-chromosome and one Y-chromosome
(Figure 2). In men who have an
X-chromosome for ALD, there is no other
X-chromosome for protection; therefore
symptoms are more severe in males.
Figure 1:
If a woman is a carrier for
ALD she has the followingpossible outcomes for each
child. When the child is a
daughter, there is a 50%
chance that she will be a
carrier for ALD and a 50%
chance that she will be
unaffected. When the child
is a boy, there is a 50%
chance that the son will
be affected (and at risk of
developing either ALD or
AMN)and a 50% chance
that he will be unaffected.
Figure 2:
If an affected man has
children, then all of his
sons will be unaffected
(he always passes his
Y-chromosome to his
son), but all of his
daughters will be carriers(he always passes his
only X-chromosome to
his daughter).
PRACTICAL INFORMATION FOR WOMEN WITH
AMN (ADRENOMYELONEUROPATHY)
carrier
carrier not aected X-ALD not aected
not aected
X-ALD X-chromosome
normal X-chromosome
Y-chromosome
Female
Male
not aected
carrier carrier not aected not aected
X-ALD
X-ALD X-chromosome
normal X-chromosome
Y-chromosome
Female
Male
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Are there any options availableso i can have children who are notaffected by the ald gene?
Some people will choose to go ahead and
have a child and take the risk of passing on
the ALD gene.
Another option would be to have a test
during pregnancy (prenatal diagnosis) to
find out whether or not your unborn baby
has the ALD gene.
Two main tests are available:
Chorionic villus sampling (CVS) which is
done at around 12 weeks of pregnancy orAmniocentesis which is done at 16 weeks
of pregnancy. Both tests carry a small risk
of miscarriage at 2% (1 chance in 50) or
1% (1 chance in 100) respectively. The
results would be available about one week
after the test and you can then take the
decision whether to carry on with
the pregnancy.
There are also other tests now that can
detect the sex of a pregnancy at an
early stage e.g. nine weeks by testing a
maternal blood sample. Some women willopt for this test first and only go on to
have a prenatal test if the test shows the
pregnancy is male. We would recommend
that you investigate Free Foetal DNA tests.
The SAFE research group have a website
that provides information on this subject
-The Special Non-Invasive Advances in
Fetal and Neonatal Evaluation Network
Website: http://www.safenoe.org
PRACTICAL INFORMATION FOR WOMEN WITH
AMN (ADRENOMYELONEUROPATHY)
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An alternative way of preventing an ALD
pregnancy is pre-implantation genetic
diagnosis (PGD). At-risk couples can use
IVF technology (even though they do not
have fertility problems) to create embryos
in a test tube.
The embryos are then tested to detect
whether they carry the mutated ABCD1
gene. In this way they can differentiate
affected from unaffected male foetusess
and carrier from non-carrier female
foetusess. Only embryos that are proved
not to be affected will be used to transfer
to the womans womb with the hope that
she will become pregnant.
This treatment should be available on the
NHS and your genetic counsellor should
be able to direct you to a centre that can
carry out this treatment. If you decide
that PGD is something you are interested
in pursuing, the PGD centre will make an
application for funding to your local
funding body.
The success of PGD is related to female
age so most centres will only offer
treatment to women under the age of40 (or less).
ALD life knows of a number of families
who have had children using the above
techniques and are willing to talk about
their experiences.
Can i get any financial help formy disability?
Anyone with mobility problems caused byAMN should apply for the Disability Living
Allowance. www.directgov.uk
It gives a monthly tax-free income which
will help you with items that you need to
make life easier, like a car through the
Motability scheme. www.motability.co.uk
How can i get more information?
You can get in touch with others in a
similar situation through ALD Life who canalso provide practical information, support
and advice. ALD Life also runs an annual
event which brings together families and
individuals suffering from all aspects of
carrying the ALD gene to learn about
innovations in treatment and research
and share experiences.
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1514
Disability benefits helpline -
for disability living allowance
and attendance allowance
Disability Living Allowance Unit or
Attendance Allowance Unit
Warbreck House
Warbreck Hill
Blackpool
Lancashire
FY2 0YE
Helpline
08457 123 456
DirectgovGovernment website for information about
benefits and entitlements
www.direct.gov.uk
Citizens Advice Bureau
Free information and advice on legal and
money problems and can help you if you
experience problems with DSS. Your local
branch can be found on the national
website www.adviceguide.org.ukCarers UK
Carers UK campaigns to make sure carers
receive the practical, financial and
emotional support they need.
www.carersuk.org
Tel: 0808 808 7777
Email: info@carers uk.org
PRACTICAL INFORMATION FOR WOMEN WITH
AMN (ADRENOMYELONEUROPATHY)
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REMINDING YOURSELF
THAT THERE IS ONLY A
CHANCE AMN WILL
AFFECT YOU LATER IN
LIFE, AS WELL AS BEING
POSITIVE ABOUT HAVING
HEALTHY CHILDREN, IS
THE ONLY WAY. I FOCUS
ON DOING ALL I CAN TO
NOT ALLOW IT AFFECT ME
WHEN I AM OLDER. I LOOKAFTER MY HEALTH MORE
THAN MOST PEOPLE.
Motability scheme
The Motability charity helps provide cars,
wheelchairs and powered scooters for
disabled people in the UK
www.motability.co.uk
Disabled living foundation
is a national charity providing
independent advice on mobility aids,
disability aids, daily living equipment.
www.dlf.org.uk
Radaris a charity that provides access to
disable people to around 7,000 locked
public toilets throughout the UK. RADAR
operates a National Key Scheme. For a
small fee they will provide you with a key
that allows access to disabled toilets that
have been locked to prevent vandalism
and misuse.
www.radar.org.uk
The multiple sclerosis society
operates a number of therapy centres
around Britain, which can be used by AMN
sufferers. For details of therapy centres in
you area log on to
www.mssociety.org.uk
DIRECTORY OF GRANTS
FOR INDIVIDUALS IN NEED
Directory of Grants for Individuals in
Need available from the reference section
of your local library or online at
grantsforindividuals.org.uk.
PGD in Scotland
pgd has been available in Scotland since
2002, based at Glasgow Royal Infirmary
Assisted Conception Services Unit, Walton
Building, 84 Castle Street, Glasgow,
Scotland, United Kingdom, G4 0SF
Tel: 0141 211 0505
Fax: 0141 211 1139