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FAQs

What causes Williams Syndrome?

Williams Syndrome is a microdeletion of genetic material from a specific region of chromosome 7.

Is it my fault that my child has Williams Syndrome?

No. Nothing you have done or not done has caused your child to have Williams Syndrome, which is a randomly occurring genetic condition.

Is there a cure for Williams Syndrome?

No, there is no cure for Williams Syndrome; it is a lifelong condition but a number of the conditions caused by it can be very effectively treated.

Is there treatment or therapy for Williams Syndrome?

There is no single treatment or therapy used for Williams Syndrome, but different treatments and therapies such as physiotherapy, occupational therapy, speech therapy, music therapy, specialist advice and psychological therapy can help to address some of the issues associated with the condition. There are also many physical problems such as heart problems, as only one example, which can be treated. Not everyone with Williams Syndrome will need every therapy or treatment but evidence shows the earlier intervention starts, the better the future prospects.

Now we have a diagnosis what do we do?

The first thing to do is to contact the Williams Syndrome Foundation with your genetic test result and apply for membership. Everyone at the Foundation has been in the situation you are now in because the Foundation is run by parents. Once you are a member we can put you in touch with our regional network of families, include you in invitations to social and information events, send you our twice-yearly magazine, issue you with clinical and other guidelines and pass your queries to our panel of eminent medical experts. Membership also gives you the opportunity to chat with people who know exactly what you are going through.

Why do we need a blood test diagnosis to join the Foundation?

Before the days of standard genetic testing there were cases of misdiagnosis. It is vital for the protection of our members that we know they definitely have Williams Syndrome before we give you any information about the condition you may choose to follow.

Our doctor has never heard of Williams Syndrome. What should I do?

Currently about 1 in 30 GPs ever meets someone with Williams Syndrome so it would not be unusual for your doctor not to have come across it in practise. You should ask the doctor to contact the Williams Syndrome Foundation for clinical guidelines and other information and tell them specific queries can be put to the Foundation’s professional medical panel of experts.

Could anyone else in our family have Williams Syndrome?

It is extremely unlikely but not impossible that anyone else in your family has Williams Syndrome. If a medical professional tells you otherwise, you should ask them to contact the Williams Syndrome Foundation. It is, however, sometimes the case that the geneticist who made the positive diagnosis will want to conduct tests on parents to see whether there are any anomalies or anything unusual in their genetic make-up.

My child has been diagnosed with Williams Syndrome and I/other family members have been told they must be blood-tested for it.

A geneticist who has made the positive Williams Syndrome diagnosis may want to conduct tests on parents to see whether there are any anomalies or anything unusual in their genetic make-up. You should ask the geneticist about this if it is suggested that you or other family members should be tested and ask them to explain exactly why they are requesting further tests.

If we have more children, will they have Williams Syndrome?

It is extremely unlikely but not impossible that any further children will have Williams Syndrome. Recurrences are extremely rare. There is only one genetic way this could happen. This is that a parent might have a patch of cells in the ovary or testis with the chromosome 7 deletion already present and thus produce more than one egg or sperm with the deletion. But the Williams Syndrome Foundation’s professional medical panel have not seen any cases of this and there are almost none in records of the condition.

Could my child have mild or severe Williams Syndrome?

It is always tempting to hope that your child has a mild form of the condition. The fact is that the greater the positive input from an early age, the higher the likelihood of a fulfilling life.

My child has been diagnosed with Williams Syndrome. Does this mean they have a heart condition?

Many children reach the diagnosis of Williams Syndrome through their heart condition. If your child is diagnosed with Williams Syndrome because of another reason, they should be referred to a cardiologist to ensure they do not also have a heart problem. The cardiologist will then be able to clarify whether any tiredeness or breathing problems relate to their heart.

My child has been diagnosed with Williams Syndrome - What is their life expectancy?

Williams Syndrome does not generally cause a significant reduction in life expectancy unless there is a significant heart or kidney condition. The premature ageing of organs caused by the condition can mean that a person with Williams Syndrome, whilst able to enjoy a relatively long and healthy life, might not have the same life expectancy as a person without Williams Syndrome.

My Williams Syndrome child has feeding problems. What do I do?

You should speak to your GP or paediatrician and ask for advice and/or a referral to a relevant specialist. You should also ask about guidance on weaning issues and if necessary a referral to an occupational therapist for guidance on texture intolerance in eating. You can contact the Foundation and put specific queries to the medical experts.

My Williams Syndrome child will not sleep. What do I do?

You should speak to your GP or paediatrician and ask for advice and if necessary a referral to a relevant specialist. You may want to discuss medication to promote sleep if the medical professional thinks it appropriate. You can contact the Foundation and put specific queries to the medical experts.

Will my child go into mainstream or special needs education?

Educational needs vary from child to child and must be based on expert advice and where the child will be happiest, best settled and, therefore, able to learn. It is often the case that people with Williams Syndrome move between mainstream and specialist education throughout their time in education, depending on what is best suited to them at the time.

When will a Williams Syndrome child go through puberty?

Some children with Williams Syndrome go through a so call "precocious" or early puberty. This is something to discuss with your doctor and if necessary ask for a referral to an endocrinologist (hormone specialist) for advice.

Can Williams Syndrome people have children?

There are no significant physical reasons why people with  Williams Syndrome cannot conceive normally, but their own health may pose a potential risk, particularly if they have a heart condition. There are also issues to consider about the reality of coping with pregnancy, birth and a child or children.

Will a Williams Syndrome person's children have the condition?

There is a 50% probability that a person who conceives a child with a non Williams Syndrome person will have a Williams Syndrome child. If two Williams Syndrome people conceive the child is 75% likely to have Williams Syndrome.

When will a Williams Syndrome woman go through menopause?

Some women with Williams Syndrome may go through an early menopause and advice should be sought from your GP if this causes any problems.

My Williams Syndrome family member cannot cope with certain noises - why?

Hyperacusis or a heightened sensitivity to noise (pitch as well as volume) is very common in Williams Syndrome. It is not to be taken lightly; noises which others take for granted can be hugely distressing for people with Williams Syndrome; even laughter at a certain pitch can cause problems. You should discuss the matter with your doctor and if necessary ask for a referral to a sound therapy clinic or discuss the use of ear defenders. You can also contact the Williams Syndrome Foundation for advice from the professional medical panel.
 

Is there a recommended diet for people with Williams Syndrome?

 

There is no single recommended diet for people with Williams Syndrome. Infantile Hypercalcaemia, which can be a feature of childhood Williams Syndrome is treated with a low calcium diet. You should speak to your doctor and ask for referrals to a dietician and/or nutritionist.