Tay-Sachs disease - Treating Tay-Sachs disease

There is 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

Due to the rarity of Tay-Sachs disease, it's likely that you will 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 will therefore 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 that 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 your local clinical commissioning group (CCG) so that any necessary treatment can be given where you live. This will mean that hopefully you and your child will 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

Aspiration pneumonia can be very difficult to prevent in children with Tay-Sachs disease, even if the care they receive from their parents and health professionals is of the highest standards.

Antibiotics are the most common form of treatment for aspiration pneumonia. Depending on the severity of the symptoms, the child may be given antibiotic tablets or injections. In particularly severe cases where airways become inflamed and swollen, a tube may be required to help keep the airways open.

Congestion

Congestion of the lungs with mucus can usually be treated with a type of therapy known as physical therapy of the chest, or chest PT for short.

Chest PT involves several techniques, such as using your hands to pat your child's chest to help encourage their cough reflex. Only attempt chest PT if you have been properly trained by a qualified healthcare professional. Performing the technique incorrectly could damage your child's lungs.

Drooling and saliva

Two 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 dryness of the mouth
• trihexyphenidyl or glycopyrrolate – these medications are available in oral form and cause dryness of the 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 are designed for children with a cleft lip or palate (a type of birth defect that affects the mouth), 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 that is passed down the nose and into the stomach (nasogastric tube)
• a tube that is 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 are designed for long-term use, but general anaesthetic is required to fit them.

See treating dysphagia for more information and advice.

Other symptoms

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.

Resuscitation

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 do not wish your child to be treated and that you would prefer them to die peacefully in their sleep.

If this is the case, you will 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 is 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 is 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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