Practical Information for Women With AMN

7/31/2019 Practical Information for Women With AMN

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PRACTICAL INFORMATION

FOR WOMEN WITH AMN

(ADRENOMYELONEUROPATHY)

ALD LIFE

PO BOX 43642

LONDON

SE22 OXR

Tel: 020 8473 7493

www.aldlife.org

[email protected]

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



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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.



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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).



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


7/81312

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



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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



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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

Documents

Practical Information for Women With AMN