Tay Sachs/ Sandhoff disease

What is Tay Sachs/Sandhoff disease?

Tay Sachs and Sandhoff disease are lysosomal storage disorders. Your body is made up of trillions of individual cells and each cell contains a small part called the lysosome. This is primarily responsible for breaking down and recycling worn out cell components. Inside the lysosome are enzymes which perform this very important housekeeping role. In Tay Sachs and Sandhoff disease the necessary enzymes are not working effectively allowing these products to build up and become stored in very specific areas of your body. There are many different enzymes in your lysosomes, and deficiencies of each enzyme will cause a different disease. All of these different diseases together are called lysosomal storage disorders.

How will this affect me?

In Tay Sachs and Sandhoff disease the cells most commonly affected can be found in the nerves throughout your body but particularly in the brain.

This means you may experience or be at risk of the following:

• Difficulty with walking
• Difficulty with balance & co-ordination
• Memory impairment
• Cognitive decline
• Swallowing difficulties
• Speech impairment

The progress of the disease in adults is extremely variable with some people not really noticing any symptoms whilst others are more severely affected.

If you have any questions about the effects and progression of the disease please do ask your doctor or specialist nurse.

Is there any treatment?

At the moment there is no specific treatment for Tay Sachs or Sandhoff disease available on the NHS in the UK. We work very closely with colleagues from around the world to keep up to date/participate in research in this field.

How did I get Tay Sachs/ Sandhoff disease?

Your disease is a genetic condition which means that you inherited it from your parents. There are instructions in your genes for making lysosomal enzymes and a small change in the DNA can be enough to stop the enzyme from working properly. You have two copies of every gene, having received one from each parent.

To be affected by Tay Sachs or Sandhoff disease you need to have two copies of the gene with the DNA change on it – one from each parent. Only receiving one affected copy means you are a carrier and will not be affected. Please do talk to your doctor or specialist nurse who can explain this in more detail.

What do I need to do next?

• Do ask your doctor or nurse for more information.
• Do attend your regular appointments with the lysosomal disorders team so that we can ensure you receive the most appropriate care for your current difficulties and can keep you informed of any new developments.
• Do maintain a healthy lifestyle
  • avoid smoking
  • keep alcohol consumption to a minimum
  • maintain a healthy weight
  • take some regular exercise
  • reduce any risk of head injury
• Do report any difficulties you may encounter when eating or drinking.

You may find it helpful to contact your patient support group.

CATS

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Contact us

LDU Box 135, Addenbrooke’s Hospital, Hills Road, Cambridge. CB2 0QQ

Tel: 01223 274634

Email LDU Cambridge

Please note the department is open Monday to Friday 08:30-17:00.

If you are unwell outside of these hours you should seek medical advice from your local healthcare team.

If your emergency doctor needs specific advice they should call the hospital switchboard on 01223 245151 and ask for the metabolic consultant on call.