LIVING WITH FRIEDREICH'S ATAXIA One of the features of Friedreich's Ataxia is that the way it affects individuals varies enormously. No two people are the same, which is true of siblings as well as unrelated individuals. However, there are still quite a lot of similarities in the way that people are affected and there are various clues to look for with regard to dangers to avoid. Many of the symptoms suffered by a FAer are treatable medically, even though the root cause may remain uncheckable. The recent advances in knowledge of the disease offer hope for therapeutic advances in the future. In this leaflet we wish to give a recently diagnosed FAer the benefit of knowing what may occur and of being forewarned, in the knowledge that an enjoyable existence can comfortably be maintained, despite suffering the constraints of the condition. EDUCATION It is better to stay in mainstream education if possible, rather than attend a 'special' school, where there is less expectation of the students going on to seek a 'normal' job, even if employment does not become a reality. As more jobs are lost to new technology, the job market becomes ever more competitive, and a disabled person faces tremendous odds and may not realise the goal of finding employment. Education, therefore, should not be seen as a 'means to an end', but indeed can be an end in itself, giving as much satisfaction in the learning process as can be gained by doing a job, the main difference being that students will never receive the same financial remuneration that goes to the worker. Hopefully modern society will be able to compensate for that loss. The Faer should direct his/her education towards a realistic goal for someone who is likely to be wheelchair bound by the time they have completed their period of education. INDEPENDENT LIVING Independent living does not mean the ability to look after and maintain one's place in the community unaided, but rather to be in control of your own situation. There are many independent living schemes a person can take advantage of. In such a scheme the disabled person will utilise the aid of an 'able-bodied' carer to act as his/her arms and legs. Obviously the financing of such an arrangement will rely on the assistance of local Social Services or the Independent Living Fund. To be eligible to apply to the ILF the disabled person must qualify for the higher-rate Attendance Allowance. There are many FAers who live independently in such a way and find it far more enjoyable than being institutionalised. In order to see what is available it is necessary to contact your local Social Services Department. SEX AND MARRIAGE Disabled people are still human beings and despite the disability are subject to the same sexual urges as an able-bodied person. Even very severely disabled people are capable of sexual arousal, stimulation and enjoyment and can achieve and give satisfaction through normal sexual intercourse. Indeed the denial of sexual satisfaction will lead to the same frustration as it does for able-bodied people. Many Faers of both sexes are happily married, and many are parents in their own right. However, it is important for both parties who enter a relationship to be aware of the future restraints that may beset the disabled partner. It is an interesting fact that few FAers, who have married, in the full knowledge of what the future might hold, have felt that the marriage did not work. Perhaps it should be borne in mind that these days over 40% of all marriages end in divorce, but that statistic does not apply to marriages where a disabled person has married in the full knowledge of their disability. It should also be borne in mind by the disabled partner that their opposite number might not be looking for a permanent relationship. Sexual relationships may change more frequently and the 'one night stand' is more common. HEALTH AND FITNESS It is important to realise that many of the physical inability's that can affect a FA sufferer can be held back particularly in the early years, by maintaining physical fitness. This means maintaining agility and movement, it is not simply a question of strength, i.e. weightlifting is of no benefit whilst yoga can be of considerable help, as is physiotherapy. It must be realised, however, that with the best will in the world, the FAer is simply delaying the inevitable, i.e. wheelchair confinement, and the gradual progressive loss of muscle strength including speech and manual dexterity. Hearing problems can also arise. It must also be borne in mind that many FAers will have heart problems, which require appropriate medical management. It is heart failure, which is the main cause of early death in Friedreich's Ataxia. The problems that may arise will be considered individually, but please remember that these are only general guidelines which will not be accurate in every case. SPEECH The speech of all FAers will be affected in that words become slurred and indistinguishable. This is often combined with a loss of vocal power, so that the FAer who once had a loud voice is eventually reduced to a fairly hushed whisper. It is therefore important for the FAer to maintain the ability to speak with clarity, and to be able to enunciate words quite clearly. A vicious circle can operate here: an FAer who has difficulty in explaining things will not bother to do so, but will leave this to a friend, parent or carer. This leads to further inability to communicate clearly. So it is important to maintain the ability to communicate and this can be enhanced by constant use of a tape/cassette recorder, so that the FAer is constantly hearing their own speech and can automatically rectify phrases that are unclear. HEARING The FAer who is affected by loss of hearing will often find that it is not so much deafness they are suffering from as an ability to easily distinguish what someone close by is saying when there is a lot of background noise, e.g. in a canteen or public house. This is due to faulty filtering by the hearing receptors. In such circumstances a person will seem to 'switch off' and adopt an attitude of aloofness. In a minority of cases, actual deafness can, unfortunately, occur but this is the exception. It is important for a FAer to recognise the problem, and to position himself directly opposite the speaker. Older FAers, more affected by hearing difficulty, can be assisted by the use of a hearing-aid tuned to a directional microphone, or adjusting to a hearing aid that has an induction loop installed, or by watching the lips of the speaker. VISION Visual loss in rare in Friedreich's ataxia but, just as in the general population, short-sightedness may occur. If the individual wishes to use contact lenses, the assistance of a carer may be required to insert and remove them. A particular problem that may be experienced by a FAer is the inability to follow a moving object adequately because of difficulties with the control of eye movement. This is something that has to be borne in mind in relation to driving. SENSATION Friedreich's ataxia gives rise to difficulties with 'discriminative' sensation, such as distinguishing between different coins in one's pocket. This results in problems with fine manipulations such as doing up buttons, turning pages in books, etc, in addition to the difficulties produced by the impaired control of movement. The lack of feeling is worse in the cold and it is therefore helpful to keep your hands warm in winter. BLADDER FUNCTION Some FAers experience bladder difficulties, in particular, having to go in a hurry, or, less frequently, difficulty in starting to urinate. If such problems arise, ask your GP to refer you to a neurologist for specialist advice, as appropriate drug treatment can help. DIABETES There is an increased risk of developing diabetes in people with Friedreich's ataxia. It is therefore advisable to have regular urine checks for sugar at intervals of 6-12 months. Early treatment will help to prevent the complications that may otherwise occur. FEELING AND TOUCH The further one moves away from the cerebral cortex, the more the loss of feeling, or numbness, is apparent, in the extremities like the fingers and toes. Particularly in the feet, not only because of the Ataxia but because of being in a wheelchair, the circulation is reduced, causing coldness and slow healing when there is tissue damage. The numbness progresses as the Ataxia worsens and nervous system deteriorates. In order to delay the progress of the disorder, it helps for the FAer to try to keep these areas flexible and usable, and warm in cold weather. The use of a motor-driven bicycle may help, too, by improving circulation, and digestion, and by cutting down on muscle spasm problems. ALCOHOL AND DRUGS Many FAers are aware of the effect of too much alcohol, which enhances sensory inability. There is no particular danger in taking alcohol, but the FAer must learn that its effects are actually enhanced by the ataxia. The effects of drugs likewise, and in particular it can be dangerous to over-use stimulants. Many drugs, if sensibly used can be of great advantage, e.g. muscle relaxants, and basically any medication if particularly prescribed. Although the ataxia cannot be cured, it is possible in some instances to treat the symptoms and therefore benefit the sufferer. Obviously you will need to consult your G.P. Or a neurologist. COMPLEMENTARY THERAPY Some sufferers have expressed faith in various 'unorthodox' forms of medical treatment. Some homeopathic remedies are noted to have helped certain individuals, as have reflexology, acupuncture, aromatherapy and massage. There is, however, very often a 'placebo' effect; if a person believes a treatment to be beneficial they will feel some improvement - but in many cases this is only temporary. HEART DISORDERS As mentioned earlier, there is a risk of heart disorder in FAers. It is advisable for patients to be under annual medical supervision so that heart problems can be dealt with promptly if they arise. DRIVING Many FAers have learnt to drive and are capable of being good and safe drivers. It must be understood, that there will come a time when they will have to stop driving because of the progress of the ataxia so that they become unable to respond to emergency situations with sufficient rapidity. COMPUTERIZATION The use of computers or word-processors can be of great advantage, in particular when studying. It can give the FAer some parity with able-bodied peers. Computer games of 'virtual reality' can be great fun for a person who cannot take part in physical games. The more advanced use of computers can give access to communication packages and use of the Internet and E mail. Even when manual dexterity is diminished to the extent that the use of a keyboard is difficult, there are new software packages which enable voice control, nowadays of a very high standard, so much so that they can differentiate sounds with which the human ear would have difficulty. Computers can also be linked into the control of domestic appliances.   This leaflet discusses various degenerative processes that can occur from Friedreich's ataxia. It is not inevitable or even likely that a single individual will suffer from all of them. The leaflet is based on the observations of a Trustee to the Ataxia Group who has lived with FA for over 30 years. Particular thanks to Professor P.K.Thomas for his suggestions and additions. * * * * * Leg Spasms I have suffered from leg spasms ever since I went into a wheelchair in my late twenties. Originally believing this was due to the confinement and my legs not being allowed to have the exercise that they needed (as I had previously led a comparatively sporting existence). Many FAers complain of muscle spasms and are often diagnosed as requiring muscle relaxants - the most common and effective one being Baclofen, which I understand is now available in the form of a pump that can surgically be implanted into the spinal cord, where it's gets directly to work on the appropriate nerves. However I have not found that this drug has any effect on me personally (perhaps I have not found the appropriate dosage). There are of course quite a number of muscle relaxants drugs on the market, but many of these do have slight side effects and can also be used as sleeping tablets. I now use a drug called Clonazepam and find that used in conjunction with Co-proxamol (Distalgesic) assist in giving me a reasonable night sleep. The Co-proxamol is primarily a painkiller and is diagnosed to combat the arthritis in my spinal cord and shoulders. Before I used Co-proxamol, I was using a more powerful painkiller called Dihydrocodeine, but regrettably this is an opiate (and is often used to win drug-addicts off heroin, and has to be used with some caution) one of its rather disturbing side effects is that it is extremely constipating! - Which is why I no longer use it. But it was very useful in tackling the muscle spasms. However, as far as I know this has only been peculiar to me. I have always been a restless sleeper, which contributed to the down- fall of more than one relationship. This has been an extremely frustrating factor in my life, which is often the cause of leg-pulling amongst family and friends. Peter Cordwell [[email protected]]