There's currently no cure for Tay-Sachs disease, so the aim of treatment is to make living with the condition as comfortable as possible.
Treatment usually focuses on:
- preventing problems with the lungs and airways
- relieving any feeding or swallowing problems (dysphagia)
- using medication to help control or relieve symptoms, such as fits and muscle stiffness
Your child's care plan
Because of the rarity of Tay-Sachs disease, you'll usually be referred to a specialist centre that has experience of treating children with complex health needs, such as:
- Birmingham Children's Hospital
- Great Ormond Street Children's Hospital, London
- St Mary's Hospital, Manchester
Children with Tay-Sachs disease can have complex needs. They'll need to be treated by a team of different specialists working together. These types of teams are called multidisciplinary teams (MDTs).
After the initial diagnosis, you and your child will probably need to spend some time at the specialist centre so a detailed treatment plan can be drawn up.
Once your child's symptoms stabilise, your MDT may be able to speak to your GP or local clinical commissioning group (CCG) so any necessary treatment can be given where you live. This will hopefully mean that you and your child only have to visit the centre occasionally.
Problems with the lungs and airways
Children with Tay-Sachs disease are more vulnerable to developing problems with their lungs and airways. This is because:
- food or liquid can fall into the lungs and trigger an infection – this type of infection is called aspiration pneumonia
- increasing muscle weakness can result in poor cough reflexes and a build-up of mucus in their lungs (congestion)
Children with Tay-Sachs disease are prone to drooling, and the excessive production of saliva can further disrupt breathing.
These difficulties are described in more detail below.
Aspiration pneumonia can be very difficult to prevent in children with Tay-Sachs disease.
Antibiotics are the most common treatment for aspiration pneumonia. Depending on how severe it is, this may be antibiotic tablets or injections. In severe cases, where airways become inflamed and swollen, a tube may be required to help keep the airways open.
Congestion of the lungs with mucus can usually be treated with chest physiotherapy (chest PT).
Chest PT involves several techniques, such as patting your child's chest to encourage their cough reflex. Chest PT should only be attempted if you've been properly trained, as performing it incorrectly could damage your child's lungs.
Drooling and saliva
Medications used to reduce the production of saliva and control the symptoms of drooling are:
- hyoscine skin patches – originally designed to treat motion sickness, these patches have the useful side effect of causing a dry mouth
- trihexyphenidyl or glycopyrrolate – medicine that causes a dry mouth
Feeding and swallowing difficulties
Feeding young babies with initial symptoms of Tay-Sachs disease can be difficult, because they often lack a suck reflex. This means they have problems latching on to a nipple or the teat of a bottle.
There are a number of things you can do to help, such as helping your baby close their lips around the nipple or teat, or stroking their cheek towards their lips to encourage their suck reflex.
For more information and advice about feeding, you can download a home care manual produced by the support group National Tay-Sachs and Associated Diseases (NTSAD).
Several specialist bottles are available to make feeding easier. They're designed for children with a cleft lip or palate, but are also useful for babies with Tay-Sachs disease. See the Cleft Lip and Palate Association (CLAPA) website for more information.
As your child gets older and moves onto solid food, they may require a feeding tube. There are two main types of feeding tube:
- a tube passed down the nose and into the stomach (nasogastric tube)
- a tube that's surgically implanted directly into the stomach (percutaneous endoscopic gastrostomy, or PEG tube)
PEG tubes are often recommended for children with Tay-Sachs disease because they're designed for long-term use, but a general anaesthetic is required to fit them.
See treating dysphagia for more information and advice.
Medication such as gabapentin and lamotrigine can be useful in preventing seizures, but this can become more difficult as the condition progresses and higher doses may be required.
Problems with muscles, such as stiffness and cramping, can be relieved using medications designed to relax the muscles (muscle relaxants), such as diazepam.
As your child gets older, it's highly likely that they will experience repeated lung infections, which will damage their lungs and prevent them from breathing. This is known as respiratory arrest.
Respiratory arrest can be treated, but often with a low chance of success. In such circumstances, you and your partner may decide that you don't want your child to be treated and that you'd prefer them to die peacefully in their sleep.
If this is the case, you'll need to make what is known as a "do not attempt resuscitation (DNAR) order". Once the order is made, it will be placed with your child's medical records. However, it can be withdrawn at any time should you change your mind. This is a very difficult decision and there's no right or wrong choice.
Some parents decide that even if treatment prolongs their child's life by just a few days or months, it's still precious time they get to spend with their child.
Other parents feel that attempting to resuscitate their child will just prolong the inevitable and that treatment should be withdrawn. Discuss the issue carefully with your partner, family and loved ones.
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Research into treatments
Research is being carried out into potential treatments for Tay-Sachs disease.
For example, some researchers are looking into a treatment called gene therapy, which aims to correct the abnormal gene that causes the condition.
However, most of this research is still at an early stage and large studies in humans haven't yet been carried out.