New Zealand
Tuberous Sclerosis
Support Group.
Tuberous Sclerosis
WHAT IS TUBEROUS SCLEROSIS ?:
SKIN:
DEVELOPMENTAL DELAY:
EPILEPSY:
BEHAVIOUR:
HOW COMMON IS IT?
WHAT IS THE OUTLOOK?
WHAT IS THE TREATMENT? IS THERE A CURE?
COULD ANY OTHER EXISTING MEMBERS OF THE
FAMILY BE AFFECTED?
.....WILL ANY FURTHER CHILDREN THAT I MIGHT HAVE BE AFFECTED?
IS THERE A TEST AVAILABLE TO TELL ME IF
MY UNBORN CHILD HAS TS?
WHAT CAN THE NEW ZEALAND TUBEROUS
SCLEROSIS SUPPORT GROUP OFFER ME AND MY FAMILY?
GROUPS TO WHICH THE NZTS SUPPORT IS AFFILIATED
CONTACT THE NEW ZEALAND TUBEROUS SCLEROSIS SUPPORT GROUP.
NZTS NEWS !!!!!
New additition....Special Education 2000.
Tuberous Sclerosis ( TS ) is a difficult condition to explain because it effects people in many different ways. It is a complex genetic disorder affecting individuals with different degrees of severity. Some people with the disorder are totally unaffected and may go through life without the diagnosis ever having been made, because there have been no symptoms presenting themselves, and are only diagnosed when their child is found to have the condition.
Tuberous Sclerosis derives its name from the tuber like growths on the brain which calcify with age and become hard and sclerotic. These lesions show up as white patches on a CT-brain scan in the majority of patients with tuberous sclerosis.
Abnormal TS growths can affect almost any organ of the body ( including the skin, eyes, heart, kidneys, and lungs ) but they rarely cause problems. Doctors find them helpful, though in confirming the diagnosis.
There are a number of different signs of tuberous sclerosis, although not all are necessary to make the diagnosis. A combination of one or more of these various signs may suggest tuberous sclerosis. They include:
SKIN: The earliest sign may be white skin patches (depigmented patches), especially on the limbs and body, which can sometimes be seen from birth. They do not cause any problems and often disappear in later life. In addition, red or brown "birthmarks" are sometimes found on the face. As a child grows older, other skin signs may develop, including a characteristic facial rash (mistakenly known as adenoma sebaceum and correctly termed facial angiofibroma) across the nose and cheeks. At first this rash starts as red pin-point spots, but later these spots can become small bumps and the redness fades. During adolescence or even later, small fibromas or nodules of skin may form around finger or toe-nails.
DEVELOPMENTAL DELAY: 1 in 2 people with TS will show signs or learning difficulty, although the degree of difficulty will vary tremendously. By the age of two years it is usually clear whether or not a child with TS will have any developmental problems.
EPILEPSY: Because the brain may have some abnormal TS cells, there is a tendency for children with TS to develop various forms of epileptic fits or seizures. These often start with infantile spasms (salaam fits). As the child grows older the fits may change and sometimes they cease altogether.
BEHAVIOUR: Sometimes people with TS may show autistic and hyperactive tendencies.
HOW COMMON IS IT? Tuberous Sclerosis is more common than is generally realised. It is thought to affect 1 in 6,000 to 1 in 10,000 of the population, making it about as common as haemophilia. That means there are more than one million world wide.
WHAT IS THE OUTLOOK? The effects of Tuberous Sclerosis are very varied. Over 50% of people with TS are intellectually normal and lead perfectly normal lives, whilst the remainder have learning difficulties to a greater or lesser extent. There are rarely problems with mobility in TS. Contrary to what has been believed for many years, the prognosis for patients with the condition is very good. The life expectancy for the great majority of people with TS is normal, even for those with severe learning difficulties and epilepsy.
WHAT IS THE TREATMENT? IS THERE A CURE? Unfortunately there is no cure for Tuberous Sclerosis, but there is treatment available for a number of its symptoms. It is important to get expert advice on an anti-epileptic drugs for those with epilepsy so that the best possible control can be achieved without over-sedating the patient. There is a variety of treatment possible for the facial rash, and the advice of a dermatologist should be sought if the rash causes the patient concern. Many people with Tuberous Sclerosis have normal intelligence, but some children dobegin to show developmental delay when their seizures start and as they grow older it sometimes becomes clear that they are not keeping up with other children of their age in certain areas of development. Speech and communication are particular areas which may need help as early as possible. Special Education, play groups, toy libraries, speech therapy and physiotherapy can all help children achieve their full potential.
Social workers, occupational therapists and other health professionals can all give advice and information, and the New Zealand Tuberous Sclerosis Support can also be a source of help, advice and encouragement.
COULD ANY OTHER EXISTING MEMBERS OF THE FAMILY BE AFFECTED? WILL ANY FURTHER CHILDREN THAT I MIGHT HAVE BE AFFECTED?
Once someone has been diagnosed as having Tuberous Sclerosis, it is very important that the immediate family is investigated to determine whether or not this is the first family member with TS. In about 70% of cases, TS has come as a ‘bolt out of the blue’, the result of a genetic mutation, and no-one else in the family is affected.
People can have TS without any symptoms, and it is most important for the parents and siblings to find out whether or not they also carry the TS gene because anyone with this gene has a 1 in 2 chance of passing it on to any child they might have. Genetic counselling is available in New Zealand.
IS THERE A TEST AVAILABLE TO TELL ME IF MY UNBORN CHILD HAS TS?
As yet there is no definitive test available for diagnosing TS in the unborn baby. Occasionally echocardiography of the baby’s heart during mid-pregnancy provides evidence of the heart lesions sometimes found in TS, but this gives no indication as to whether the baby will have developmental delay. Genetic research in TS is progressing well, and since finding one of the two genes responsible for TS, doctors are hopeful that a blood test for the condition will be developed within the next few years.
WHAT CAN THE NEW ZEALAND TUBEROUS SCLEROSIS SUPPORT GROUP OFFER ME AND MY FAMILY?
Most people are devastated when they learn that a member of their family has Tuberous Sclerosis. They have usually never heard of the condition before and feel totally isolated with their fears.
The NZTS Support group was started in early 1995, by a family who have two members affected with TS and other interested families around the country. The main aim is to supply information and support to existing and newly diagnosed people with TS in New Zealand. It also assists and educates health professionals with information from overseas, including Great Britain and USA who supply the bulk of our information.
The NZTS Support realise the need of families to have access to accurate and up-to-date information about Tuberous Sclerosis and associated problems. Letters and telephone calls are welcomed from people with TS as well as from their families and professionals working with them who need information.
GROUPS TO WHICH THE NZTS SUPPORT IS AFFILIATED
Parent to Parent: This organisation is a mixture of groups who have bonded together in order to put people in particular parents in contact with others of the same condition.
Genetic Coalition: This is a new group which is still in infancy and will be going for chartitible status in the new year. It is primarily concerned with the voice of genetic / chromosomal conditions having their say and being heard.
Auckland Medical School community network: This is a mixture of groups within the health area numbering approx. 240 groups. These groups have input in medical students training in the first year and again at year four.
Childrens hospital liasion group: This group is concerned with the welfare of all children within NZ whom spend time in hospitals.
Epilepsy Association: Assists with information and education on Epilepsy. The interaction of drugs, side effects of drugs, and drugs available within NZ.
Specialists prepared to help and assist the NZTS:
Mr. M. Watt: Paediatrician
Dr. J. Jamieson: Paediatric Neurologist
Dr. F. Oliver: Dermatologist
Mr. J. Bolton: Urologist
Dr. I. Winship Geneticist
The New Zealand Tuberous Sclerosis Support Group may be contacted through the following methods:
In New Zealand - Phone: ( 09 ) 483-5392
Fax : ( 09 ) 356-3587
Attn. Pat Coakley
Email:
Post: P.J & A.M. Coakley
36 Salisbury Road,
Birkdale,
AUCKLAND 1310.
New Zealand.