A diagnosis of Tuberous Sclerosis (TSC) has probably come as a shock to you and your family. You may be wondering how TSC will affect you and your family.

TSC-Information-Service-logo-white-background-webThe information on these pages has been written by people that have someone in their family affected by Tuberous Sclerosis.

We encourage you to contact the TSC Information Service on 1300 733 435. The TSC Information Service is a confidential service where you can speak to a member of the TSA team about anything to do with tuberous sclerosis complex (TSC).

My unborn baby has been diagnosed with TSC

Approximately 70% of cases of TSC occur when there is no family history of the disease. TSA is contacted by an increasing number of families who have received a surprise diagnosis of TSC in their unborn baby.

A heartbreaking choice

Receiving a prenatal diagnosis of TSC may have provided you with a heartbreaking choice of whether to terminate a pregnancy. You may benefit from the support that a team of people can provide. This may include your doctor, a genetic counsellor or a social worker.

Tuberous Sclerosis Australia does not have the expertise required to guide you in making this decision. Our aim on this page is to provide you with relevant, up to date information that may assist you with this very personal decision.

You may find the information on this page helpful:

The Centre for Genetics Education: Diagnosis of an abnormality in an unborn baby

TSC affects everyone differently

One of the reasons Tuberous Sclerosis is difficult to understand is because it is such a diverse condition. Every child is an individual and not every person affected by TSC will have all of the signs or symptoms. Symptoms of TSC are also seen in varying degrees in each child. Recent improvements in treatment of TSC and its symptoms (particularly in seizure control) mean that the outcome for babies born today is often better that in previous generations.

There is currently no way to predict which individuals will be severely affected by the symptoms of TSC and which will be only mildly affected. To get a better idea of the many and varied experiences of life with TSC, you may like to read the stories of other TSC families or watch the film ‘You are not alone’.

The signs and symptoms of Tuberous Sclerosis

The common features that are characteristic of TSC are listed below:

Brain: Many different types of non-cancerous growths (tumours or lesions) may occur in the brain. About 50% of people with TSC have an IQ in the normal range. Individuals with TSC can have clinical features such as epilepsy (seizures), learning disabilities, intellectual impairment, autism spectrum disorders and sleep disorders. There is a wide range of severity of these symptoms.

Skin: Multiple white patches (hypopigmented macules) on the skin are often the first sign of TSC. Other skin rashes may develop with time, but none of these skin symptoms cause serious medical problems.

Heart: Rhabdomyomas are growths that occur in the heart muscle. These often do not cause any medical problems and generally shrink with age. Very occasionally, surgery is required if the growth is blocking blood flow.

Kidneys: Cysts and growths can occur in the kidneys. The most common type of kidney (renal) growth is called an angiomyolipoma or AML. These can sometimes cause kidney problems and there is a slightly increased risk of kidney cancer in people with TSC. A very small number of people also have another renal condition, called polycystic kidney disease as well as TSC.

Lungs: Cysts can occur in the lungs. This is called lymphangioleiomyomatosis (LAM) of the lung. LAM may not cause any problems or may cause shortness of breath requiring medical attention. LAM affects about 30% of women with TSC, and is seen only very rarely in men.

Eyes: Benign tumours called harmatomas can occur at the back of the eye (retina). These generally do not affect vision.

There is no cure for TSC, but the symptoms can be treated or managed. Regular surveillance to look for symptoms and early treatment are associated with better health and quality of life for people with TSC.

A future with TSC

TSC is a lifelong condition. Although there are hundreds of researchers working on TSC and there are some new medicines becoming available, there is no cure. More is learnt about TSC everyday and there are many reasons to have hope for the future.

The outlook for many children diagnosed with TSC is very positive. Most families live very full and active lives. You may go through a grieving process and this is perfectly normal. It is very important to take care of yourself and your relationship with your partner.

“We found out our baby boy had TSC when I was 28 weeks pregnant and we were really frightened and immediately thought the worse. Emotionally, it was a difficult pregnancy and birth. He is 5 months old now. Having our son was better than we ever imagined. I would tell people: You will love your baby no matter what. He will teach you things about yourself that you would never have known. Don’t take your stress out on each other, you will need each other, and everyone else. You will often read and hear the bad things about TSC, but there are lots of good stories too. Cross each bridge as you come to it, keep smiling and most importantly enjoy your baby.”

Peta, whose son has TSC

How Tuberous Sclerosis Australia can help

Tuberous Sclerosis Australia (TSA) is a small organisation, run by people who have a personal connection to Tuberous Sclerosis. Some have a child with TSC, some have TSC themselves, and some fit in both categories. These volunteers and staff have a wealth of experience in living with TSC and live in different parts of Australia and New Zealand. TSA is also supported by a group of medical advisors.

At this time in your journey with TSC, if you feel that you would like to talk to someone from TSA, please send an email or leave a voicemail. Someone can call you for a chat or to answer questions you may have.

My child has been diagnosed with TSC

It is estimated that 1 child in every 6000 is affected by Tuberous Sclerosis and that more than a million people worldwide have TSC.

Tuberous Sclerosis Australia (TSA) is run by dedicated volunteers who have TSC themselves or are parents of someone with TSC. All of these parents can still remember the moment they were told about their child’s diagnosis. They can remember feeling shocked, numb, scared, angry and overwhelmed.

Many also remember feelings of relief:

“[I felt] relief that there was an explanation for all the seizures and other indications that our baby wasn’t quite right. Once there was a name for the problems then we could get on with finding out all we could about this condition and start early intervention to ensure she received all the help she needed.”

Sue, whose daughter was diagnosed with TSC at 7 months of age

A diagnosis of Tuberous Sclerosis affects everyone close to the child: parents, siblings, grandparents, extended family members, and friends. Telling family members and explaining TSC can be one of the most difficult times in your journey with TSC.

TSC affects everyone differently

Tuberous Sclerosis is a very diverse condition. Every child is an individual and not every person affected by TSC will have all of the signs or symptoms. Symptoms of TSC are also seen in varying degrees in each child. Early diagnosis can give your child a more positive start with early treatment and other interventions.

One of the most difficult parts of receiving a diagnosis of TSC is that there is no crystal ball. It is not possible to predict which child will be mildly affected and which will be more severely affected. Many parents find it easier to accept the diagnosis by focusing on the immediate challenges and not to worry too much about the future.

“Being that there are so many areas of the body affected by TSC, I found not knowing how our little girl would be was hard to deal with.”

Linda, whose daughter has TSC

“The unknown future was too overwhelming. I changed to just living a day at a time as a strategy in order to focus on the positives of each new day and eventually each week.

Once I accepted that doctors couldn’t give us a prognosis or predict the future for our child, I got on with the demands of gaining services and care that she required and ultimately this acceptance gave me a sense of purpose and focused my energies on achieving the best we could for our whole family.”

Sue, whose daughter was diagnosed with TSC at 7 months of age

Every parent, grandparent and family member reacts differently to the news of a diagnosis of Tuberous Sclerosis. Some people want to know more and have many questions to ask, while others need time to take it all in.

The signs and symptoms of Tuberous Sclerosis

The common features that are characteristic of TSC are listed below:

Brain: Many different types of non-cancerous growths (tumours or lesions) may occur in the brain. About 50% of people with TSC have an IQ in the normal range. Individuals with TSC can have clinical features such as epilepsy (seizures), learning disabilities, intellectual impairment, autism spectrum disorders and sleep disorders. There is a wide range of severity of these symptoms.

Skin: Multiple white patches (hypopigmented macules) on the skin are often the first sign of TSC. Other skin rashes may develop with time, but none of these skin symptoms cause serious medical problems.

Heart: Rhabdomyomas are growths that occur in the heart muscle. These often do not cause any medical problems and generally shrink with age. Very occasionally, surgery is required if the growth is blocking blood flow.

Kidneys: Cysts and growths can occur in the kidneys. The most common type of kidney (renal) growth is called an angiomyolipoma or AML. These can sometimes cause kidney problems and there is a slightly increased risk of kidney cancer in people with TSC. A very small number of people also have another renal condition, called polycystic kidney disease as well as TSC.

Lungs: Cysts can occur in the lungs. This is called lymphangioleiomyomatosis (LAM) of the lung. LAM may not cause any problems or may cause shortness of breath requiring medical attention. LAM affects about 30% of women with TSC, and is seen only very rarely in men.

Eyes: Benign tumours called harmatomas can occur at the back of the eye (retina). These generally do not affect vision.

There is no cure for TSC, but the symptoms can be treated or managed. Regular surveillance to look for symptoms and early treatment are associated with better health and quality of life for people with TSC.

First Steps

If you have just received a diagnosis, you may be very busy with different medical appointment checking for signs of TSC in the different parts of your child’s body. You, as parents, may also be checked for signs of TSC either through scans or, in some cases, through genetic testing. This can be a very stressful time, particularly if you are navigating the health system for the first time.

If your child has been diagnosed because they started to have seizures, your immediate goal may be to try to get the epilepsy under control. This can mean trying many different medications or investigating surgery.

Because TSC affects different parts of the body, your child is likely to need a team of doctors and other professionals. You may see some of these professionals frequently, others you may only see every couple of years.

When their child is diagnosed with Tuberous Sclerosis, some parents want to learn as much about TSC as possible. This is a brief guide to TSC for parents whose child is newly diagnosed. There is more detailed information on this site, but you may find that this is enough for the time being. Some parents are strengthened by reading the stories of other TSC families and benefit from watching the film ‘You are not alone’.

“Our son’s diagnosis was a traumatic time for us. We read as much as possible so as not to be ignorant, but were also careful not to delve too deeply to protect ourselves from being overwhelmed.”

Kevin, whose son has TSC

The government provides some financial assistance that can help you look after your child. You may like to contact Centrelink to find out more.

Looking to the future

Although TSC is a lifelong condition with no cure, there are many reasons to have hope for the future. There are hundreds of researchers learning more about TSC everday and new treatments are becoming available.

You may feel right now that your world has changed and it has. Families with TSC often find the poem, Welcome to Holland, expresses how they feel about this period of adjustment.

Because TSC is a complicated disease, keeping up to date with the latest information can help you to make the best decisions for your child. In fact, this is the idea behind the vision of Tuberous Sclerosis Australia – that TSC families are empowered through access to information and support.

“My advice to a family with a new diagnosis? Surround yourself with people who love you, take one day and one victory at a time and don’t allow setbacks to make you believe there will never be breakthroughs.”

Kevin, whose son has TSC

How Tuberous Sclerosis Australia can help

Tuberous Sclerosis Australia (TSA) is a small, volunteer run organisation. TSA has only one part-time employee and most of the work is done by volunteers. Our volunteers are all personally affected by Tuberous Sclerosis. Some have a child with TSC, some have TSC themselves, and some fit in both categories. These volunteers have a wealth of experience in living with TSC and live in different parts of Australia. We are supported by a group of medical advisors.

We may be able to help you in different ways at different times in your journey with TSC.

Although your family and friends may be your greatest source of strength during your journey with TSC, some families find the people they meet through TSA give them hope and encouragement.

“It is very difficult, as we all deal with grief, bad news, loss and the news of disability in our own way. What can help is knowing TSA is here, a soft place to finally gather information and start to connect with others. I guess anything that helps to add a human touch and de-medicalise the beginning steps of diagnosis. It is often a dark period and anything that helps shed light and hope is wonderful.”

Mary, whose daughter has TSC

You may like to connect with other families affected by TSC in Australia through:

  • Joining our facebook discussion group, a place to ask and answer questions about the different challenges and triumphs of living with TSC;
  • Attending an educational and social event;
  • Asking to be contacted by an TSA volunteer in your area when you contact us.
I have just been diagnosed with TSC as an adult

It is estimated that more than a million people worldwide have Tuberous Sclerosis (TSC). Tuberous Sclerosis Australia was founded (as The Australasian Tuberous Sclerosis Society) more than 30 years ago by Lynn Wilson, who has TSC herself. Many of volunteerss involved in running our organisation have TSC themselves.

Many adults with TSC are mildly affected and live normal lives.

“It was astonishing for me, as it is for most people to hear about all the symptoms of Tuberous Sclerosis. It was just mind boggling to think, here I was, just wanting someone to say “go away, it’s nothing to worry about” and all of a sudden, life was changed.”

David, who was diagnosed with TSC when he was 26 years old

The diagnosis of Tuberous Sclerosis has probably come as a shock to you. You might be feeling scared, angry or overwhelmed. If the diagnosis of TSC has come after a long wait for answers, you might even feel relieved. If one of your children has also been diagnosed with TSC, feelings about your diagnosis may be mixed in with questions and concerns for your child.

TSC affects everyone differently

Tuberous Sclerosis is a very diverse condition. Not every person affected by TSC will have all of the signs or symptoms. Symptoms of TSC are also seen in varying degrees in each individual.

Historically, only the severe cases of Tuberous Sclerosis were widely reported in the medical textbooks and research. Because of this, some doctors may not understand this variability in how an individual can be affected by TSC. Also, families of more severely affected children seem more likely to get involved in groups like Tuberous Sclerosis Australia and share their stories. It may help you to think of the many thousands of TSC affected adults around the world just getting on with their lives.

“Being diagnosed as an adult is a quite different experience to the majority of people who have a child who is diagnosed with TS. I was intelligent enough to understand all of the possible complications of TS and understand what impact it could have on my life; to know that any day I could have a seizure, or something could develop. Over a period of time I started to think I have lived this long without any problems, so chances are pretty good that I won’t have any problems, so I am not going to worry about it too much, and life goes along.”

David, who was diagnosed with TSC when he was 26 years old

The signs and symptoms of Tuberous Sclerosis

The common features that are characteristic of TSC are listed below:

Brain: Many different types of non-cancerous growths (tumours or lesions) may occur in the brain. About 50% of people with TSC have an IQ in the normal range. Individuals with TSC can have clinical features such as epilepsy (seizures), learning disabilities, intellectual impairment, autism spectrum disorders and sleep disorders. There is a wide range of severity of these symptoms.

Skin: Multiple white patches (hypopigmented macules) on the skin are often the first sign of TSC. Other skin rashes may develop with time, but none of these skin symptoms cause serious medical problems.

Heart: Rhabdomyomas are growths that occur in the heart muscle. These often do not cause any medical problems and generally shrink with age. Very occasionally, surgery is required if the growth is blocking blood flow.

Kidneys: Cysts and growths can occur in the kidneys. The most common type of kidney (renal) growth is called an angiomyolipoma or AML. These can sometimes cause kidney problems and there is a slightly increased risk of kidney cancer in people with TSC. A very small number of people also have another renal condition, called polycystic kidney disease as well as TSC.

Lungs: Cysts can occur in the lungs. This is called lymphangioleiomyomatosis (LAM) of the lung. LAM may not cause any problems or may cause shortness of breath requiring medical attention. LAM affects about 30% of women with TSC, and is seen only very rarely in men.

Eyes: Benign tumours called harmatomas can occur at the back of the eye (retina). These generally do not affect vision.

There is no cure for TSC, but the symptoms can be treated or managed. Regular surveillance to look for symptoms and early treatment are associated with better health and quality of life for people with TSC.

First Steps

If you have just received a diagnosis, you may be very busy with different medical appointments checking for signs of TSC in the different parts of your body. This can be a very stressful time, particularly if you are navigating the health system for the first time.

You may also be thinking about if and how to tell your family and friends. Because TSC is a genetic disorder, telling your family may be an important step if there is a chance they could also have TSC, or if you are planning a family. There is more information about the genetics of TSC here. Telling family members and explaining TSC can be one of the most difficult times in your journey with TSC.

“That period of time when I was diagnosed was pretty stressful: living with the uncertainty of what this information might say about me, and what it might say about what was going to happen to me in the future. It was also interesting telling other people about it. It was difficult enough for me to cope with it; the last thing I wanted was for friends or family to be freaking out about it. So I drip fed them information about Tuberous Sclerosis. I told certain people a little bit of information; people who I knew better, I would tell them more information.”

David, who was diagnosed with TSC when he was 26 years old

When some people are diagnosed with Tuberous Sclerosis they want to learn as much about TSC as possible. This page is only a brief guide to TSC; there is much more detailed information on this site, but you may find that this is enough for the time being. Some people are strengthened by reading the stories of other people affected by TSC and you may benefit from watching the film ‘You are not alone’.

Looking to the future

TSC is a lifelong condition. Although there are hundreds of researchers working on TSC and there are new treatments becoming available, there is no cure. More is learnt about TSC everyday and there are many reasons to have hope for the future.

Even if you are mildly affected by TSC, it is still important to develop a surveillance plan with your doctor. This plan will periodically check for signs of TSC in your body and help your medical team determine if any of these need to be treated.

Because TSC is a complicated disease, keeping up to date with the latest information can help you to make informed decisions. In fact, this is the idea behind the vision of Tuberous Sclerosis Australia – that TSC families are empowered through access to information and support.

“Most days I don’t ever really think too much about Tuberous Sclerosis. I guess it just sits there in the back of my mind. That uncertainty that one day, some more serious symptoms might develop. But I don’t spend too much time worrying about it, because as I said, I’ve lived this long without problems and I just get on with life.”

David, who was diagnosed with TSC when he was 26 years old

How TSA can help

Tuberous Sclerosis Australia (TSA) is a small, volunteer run organisation. We have only one part-time employee and most of the work is done by volunteers. Our volunteers are all personally affected by Tuberous Sclerosis. Some have a child with TSC, some have TSC themselves, and some fit in both categories. These volunteers have a wealth of experience in living with TSC and live in different parts of Australia. We are supported by a group of medical advisors.

TSA may be able to help you in different ways at different times in your journey with TSC.

Although your family and friends may be your greatest source of strength during your journey with TSC, some families find the people they meet through TSA give them hope and encouragement.

“When I attended a Seminar Day it was the first time I had ever met anyone else that has TSC. For the first time I was in a room of people who understood my condition and welcomed me like I was part of their family”

Kellie, who has TSC

You may like to connect with other families affected by TSC in Australia and New Zealand through:

  • Joining the facebook discussion group, a place to ask and answer questions about the different challenges and triumphs of living with TSC;
  • Attending an educational and social event;
  • Asking to be contacted by an TSA volunteer in your area when you contact us.