What Is Tuberous Sclerosis

Tuberous Sclerosis gets its name from the tuber like growths on the brain,
they calcify as they age and become hard (Sclerotic).

Click HERE to see tuber pic

These growths show up on a C.T. Scan as white patches in most patience with
Tuberous Sclerosis or T S as it is also known.
TS growths can effect nearly all other organs of the body like the
Skin, Eyes, Heart, Kidneys and Lungs, but they rarely cause problems.
Doctors find them helpful in the job of diagnosing Tuberous Sclerosis.
There are quite a few different signs for T.S. but a T.S. patient does not have
to have all of these signs, A combination of one or more of these
signs may suggest T.S.


One of the earliest signs can be white patches on the skin (depigmented-
patches ) they are most common on the limbs and body, and these are some
times visable at birth. They can disapear later in life.
As a child gets older there are other skin signs that may develop like the
facial rash that is known as Facial Angiofibroma, and this usually apears
across the nose and on the cheeks, they start as small red spots
and they can later develop in to small bumps and the redness usually fades.
During adolecense or even later, small fibromas or nodules of skin might form
around finger or toe nails.


Half of the T.S. patients will show signs of learning difficulty, but the degree
of difficulty will vary from very mild to severe. By the age of two years it is
usually clear whether a child will have developmental problems.


Because the brain may have some abnormal T.S. cells there is a tendency for children
with T.S. to develop various types of seizures. These often start with Infantile spasms
As the child gets older the seizures may change or stop altogether.

Some seizures can be difficult to notice for people that are un-aware of the many forms a seizure can take from very mild non-convulsive to severe convulsive seizures that most people would recognise.

 This is a link to a video of a beautiful little girl named Kylie who you can see has seizures that many people would not recognise if they were only understanding a seizure to be of a convulsive nature.

These links may take a few minutes depending on your internet connection speed.


Kylie's Web Site



Sometimes people with T.S. may show autistic and hyperactive tendancies.


Tuberous Sclerosis is more common than generally realised as a person with T.S.
may not have any signs visable and go through life not ever knowing they have T.S.
It is thought to effect 1 in 8,000 people


The Effects of T.S. are very varied. over 50% of people with T.S. are
intellectually normal and leed perfectly normal lives, whilst the remainder have
learning difficulties toa greater or lesser extent.
There are rarely problems with mobility with T.S.. The prognosis for patients with the
condition is normally very good as most people have a normal life expectancy, even
for those people with severe learnig difficulties and even epilepsy.


Unfortunately there is no cure for T.S. But treatment is available for some of the
symptoms. It is very important to get expert advice for anti-epileptic drugs for those with
epilepsy so that the best possible control can be acheived without over sedating the
patient, in many cases different anti-convulsant drugs and often more than one are needed
so different combinations may also have to be tried before good seizure control is
achieved, as each drug may have different effects on the different types of seizures.
There are various treatments possible for the facial rash, and the advice of a dermatologist
should be sought if the rash causes the patient concern.

Many people with T.S. have normal intelligence , but some children do begin to
show developmental delay when their sezures start, and as they get older it may become
clear that they are not keeping up with other children of their age in certain ares of
development. Speech and communication are common areas which may need help
as early as possible. Home teachers, play groups, toy libraries, speech therapy and physiotherapy
can all help children acheive their full potential. Social workers, occupational
therapists and health visitors can all give advise and information.

The A.T.S.S. Australia and the N.T.S.A. U.S.A. have been excellent
information sources for us careing for Melissa and they are good places for the support
and advice when you need it as well as the terific people you will meet. We have
gained some good friends from these places.


Once someone has been diagnosed as having T.S. it is very important that the
immediate is investigated to determine whether or not this is the first family member
with T.S.. between 50 and 70% of cases are what is called a New Mutation, this
simply meens that it was not passed on, it has happened just as nature takes it's
corse in every way. People can have T.S. without any symptoms at all so the testing
is very important.


Anyone who has T.S. has a 1 in 2 or 50% chance of passing it on to any
child they might have.


As yet there is no definitive test available for diagnosing T.S. in the unborn baby.
Occasionally Echocardiography of the baby's heart during mid -pregnancy provides
evidence of the heart lesions sometimes found in T.S. but this gives no indication
as to whether the baby will have developmental delay. Genetic research in
T.S. has found two of the genes responsible for T.S., and doctors are hopeful that a
blood test for the condition will be developed within the next few years.

School Project by Josaphina and Eva in Iceland

This is an email from Josaphina

"We had to choose a subject that connected in someway with mentally disabled people and make a presentation using everything that we learned both in school (disability care III) and work. Eva and I chose Tuberous Sclerosis Syndrome because one of the people Eva works with has TSC. We found little info about TSC here in Iceland and could not get permission to use the story of Eva's client.

We then went on the internet and found among others Melissa´s website and decided right away to ask your permission to "use" Melissa's story for our project.

I had never heard about TSC before and it has been a very special experience making the presentation and getting in contact with all of you.

PS. I learned today that i was accepted in the school that i applied for (certificate IV disability+age care)

Best regards from a sunny iceland (summertime), Josephina"

* * * * * * * * * * * * * * * * * * * * * *

Click here to see Josaphina and Eva's project, The best way to present this project to you through the web site I think is in PDF format so you will need Adobe Reader or another pdf reading program, you might have it and not know so click HERE and if it doesn't work google pdf reader or adobe reader

Thank you very much Josaphina and Eva for taking the time and effort as well as picking Tuberous Sclerosis to do your project on


Top of the Page