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Treatment and management

How a person living with Tuberous Sclerosis Complex might be monitored, treated and cared for

Tuberous Sclerosis Complex (TSC) is a lifelong condition that may require long-term care in different forms, depending on the severity and impact of the condition on an individual.

There is currently no cure for TSC. However, Our understanding of TSC continues to develop and improve at an optimistic rate, with a broad range of treatments and therapies allowing many to mitigate or manage the affect that TSC has on them.

Read this page for more information on current treatment and monitoring guidelines for TSC. You can also read about what the TSA is doing to help ensure that people living with TSC get the care that they deserve.

The Tuberous Sclerosis Association (TSA) has always been committed to supporting individuals and families living with TSC whilst also researching  causes, treatments and management of the condition. We are proud of our world-leading work, which aims to provide help for today and a cure for tomorrow

UK clinical guidelines on diagnosis, care and management of TSC

The first ever UK clinical guidelines for managing TSC in the NHS were recently published. Prior to this, clinicians in the UK had only global recommendations to help guide their care of people living with TSC.

Publication of the UK TSC clinical guidelines was a defining moment in the diagnosis, treatment and management of people living with TSC, with the guidelines helping to drive improvements in the consistency and quality of care that people with TSC receive from the NHS.

The TSA’s summary of the UK clinical guidelines

To encourage uptake of the recommendations enclosed within the UK TSC clinical guidelines, the TSA have developed a clinician summary of the key takeaways from the main guidelines (available here).

Our summary has been widely shared across UK TSC clinics, with clinicians encouraged to use our clinical guidelines summary to improve care of people living with TSC. We hope that the TSC community will consider how the clinical guidelines relate to their own individual clinical circumstances, with access to the summary helping to structure any questions that they might have regarding their care.

‘Easy read’ version of TSA UK clinical guidelines summary

An ‘easy read’ version of our guidelines summary, written in plain and simple English, was also developed to ensure that as many people as possible in our community understand the level of care that they should expect in the NHS (available here).

NHS TSC clinics

There are a number of specialist NHS TSC clinics situated throughout the UK. It is likely that a person living with TSC will be referred to one of these clinics, based on their geographic location and the care that they need.

NHS TSC specialist doctors and nurses understand just how complicated TSC is and how the condition affects everyone differently. NHS TSC clinics are also aware of the UK clinical guidelines in TSC, which sets out best practice for diagnosing and managing TSC in the UK.

For more information on NHS TSC clinics and referrals, read our How to be referred to an NHS TSC Clinic page here or contact our support team.

Treatments and therapies for TSC

TSC affects everyone living with the condition very differently, from mildly to severe. Therefore, the treatments and therapies for TSC that someone living with the condition might receive will depend on how the condition is affecting them personally.

Treatments and therapies for TSC could include medicines and operations, as well as software such as phone apps to monitor mental health issues.

All treatments and therapies will generally focus on helping to alleviate either the physical or mental affects that TSC might have on a person.

Treatments and therapies may be prescribed to help reduce a number of TSC-related issues including:
  • The size and spread of growths in the body, such as a sub-ependymal giant cell astrocytoma (‘SEGA’) on the brain or renal angiomyolipomas (‘AML’) on the kidneys
  • The number and severity of seizures, as a result of TSC-related epilepsy
  • The severity and spread of skin lesions, such a hypopigmented macules (‘ash leaf spots’)
  • The impact and severity of TSC-associated neuropsychiatric disorders (TAND)

Why monitoring people living with TSC is important

TSC causes non-cancerous growths to develop in different organs around the body, such as the brain, eyes, heart and skin. Issues caused by TSC are as a result of the growths that develop because of the condition.

It is important that people living with TSC are regularly monitored so that the location, spread and size of any TSC-related growths can be tracked. This helps to understand how the condition is developing and how it is affecting individuals living with the condition.

Monitoring of people living with TSC may include the following scans and examinations, taking place at specific milestones (such as every six months or annually) as instructed by a clinician:

  • MRI (Magnetic Resonance Imaging) scan of the brain
  • CT (Computed Tomography) scan of the lungs liver and kidneys
  • Ultrasound scan of the kidneys
  • Echocardiogram (ECG) ultrasound to examine the heart’s structure
  • Eye examination to look for abnormalities of the retina
  • Skin examination under ultraviolet light
  • Genetic testing to diagnose and/or confirm a diagnosis of TSC
  • Mental health services (such as Child and Adolescent Mental Health Services, CAMHS)

With a solid framework in the UK now established, the TSA hopes to continue working hard to ensure that support for people living with the condition is always available, whilst research into the causes and treatment of TSC continues to help us unlock the condition.

For more information on the treatment and management of TSC, contact our support team to discuss your case further

Easy read

There is not a cure for TSC yet. TSC is a condition that a person is born with and they have it for their entire life. If someone is living with TSC, they might need lots of looking after or not at all. It depends on how much TSC affects them.

We now know lots about TSC and we are always learning more. There are lots of medicines and ways to help people who live with the condition feel better.

The TSA has always helped people living with TSC and their families. The TSA also works very hard to try and find out why TSC happens and what we can do to make people who live with TSC feel better. The TSA is very proud of its work, with the hope to provide help for today and a cure for tomorrow.

Advice for doctors on how to look after people who live with TSC

Doctors who know lots about looking after people who live with TSC wrote a booklet about the condition. The doctors did this to help other doctors look after people who are living with TSC. This way, people living with TSC can be looked after really well.

The booklet was a big step for looking after people living with TSC in the UK.

The TSA wrote the more important points from the doctor’s booklet into their own guide. The guide was given to doctors all around the UK. The TSA hope that people living with the condition who read their guide will use it to better understand how they will be looked after by doctors.

There is also an ‘easy read’ version of the TSA’s book on being looked after by doctors. The ‘easy read’ version is easy to understand.

Special hospitals for people who live with TSC

There are special hospitals for people who live with TSC, called ‘TSC clinics’. The doctors in TSC clinics know lots about TSC. If a doctor has told someone that they have TSC, the person might be asked to visit one of these TSC clinics.

Ways to make people who live with TSC feel better

There are treatments and medicines that can help people living with TSC feel better. TSC affects everyone living with the condition very differently. This means that the medicines and treatments someone living with TSC might get can be very different to another person who also has the condition.

A person living with TSC might be given medicine or treatment to help with lots of different things. They might include:

  • To help make lumps and bumps in the body smaller or stop lumps from moving to other parts of the body
  • To help someone who has seizures or ‘fits’ because of their TSC have less of them
  • To help make marks on the skin smaller or stop them from spreading
  • To help people living with TSC who aren’t thinking or acting like they normally would feel better

Why having check-ups with a doctor is important if you live with TSC

If you have TSC, lumps grow in different parts of your body that wouldn’t normally be there. Some places where the lumps might grow are the brain, eyes, heart and skin.

TSC might make you poorly because of the lumps that grow in your body because of it. The lumps might mean you have seizures or ‘fits’, feel or act differently or have kidney problems.

It is important that people living with TSC have regular check-ups with the doctor so they can see what the lumps and bumps on the person’s body are doing.

If you are living with TSC, you might get these scans or check-ups:

  • A scan of your head to check for lumps
  • A scan of your chest and belly to check for lumps
  • A check of your eyes to see how healthy they are
  • A check of your skin to see how healthy it is
  • A check of how your body is made (your genes) to check if you have TSC
  • A check of how you are thinking and feeling, to see if it is different to usual

The TSA will work very hard to keep supporting people who live with TSC. The TSA will also keep working hard to find out why TSC happens and to find new medicines for the condition.

If you want to know more about medicines and check-ups for TSC, you might want to talk to our support team.

Make a one off or regular  donation

£10 Means that we can send a support pack to a family who has just received a life-changing TSC diagnosis, ensuring that they do not go through this time alone.

£25 Can help us develop materials that are included in our support services, flagship events or campaigns.

£50 Can provide laboratory equipment for a day’s research into the causes, symptoms, management or treatment of TSC.

To provide help for today and a cure for tomorrow