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The information here has been written by parents of infants with Prader-Willi Syndrome (PWS). It is a brief guide for parents who have recently had a diagnosis and it provides some helpful tips on coping with these early years, and early interventions. Most parents find that taking things a day at a time is the best way of dealing with this diagnosis.
You will find that there is more detailed information about PWS within this site but some people find that this is enough for the time being.
A Guide for Parents of Infants
with Prader-Willi Syndrome
YOU ARE NOT ALONE
Very recently you were told that your child had been diagnosed with Prader-Willi Syndrome (PWS). This syndrome is characterised by a disorder of growth and development, which, in 99% of cases is not inherited. It must have come as a shock to you and you will be wondering just how this will affect you and your family. It is important to say that you and your child are not alone. Estimates show that about 1 in 20,000 people are born with PWS. It occurs in both males and females equally and is seen in individuals of all races. The name of the syndrome is derived from the names of the doctors who first described the disorder in 1956.
HOW WILL YOUR CHILD BE AFFECTED
Every child is an individual and not every person affected by the syndrome will have all of the characteristics. They are also seen in varying degrees. Early diagnosis can give your child a more positive start with early intervention and sensible eating plans. It is important to understand that children with PWS are generally happy and delightful and it is very easy to love them.
STAGE ONE
There are two distinct clinical stages of the syndrome. The first stage occurs from birth, generally through to the ages of two to four. Babies are born with very low muscle tone, which means it is extremely difficult for them to suck. In most cases they will need to be fed initially by gavage or special teats, or with a teat that has a larger hole than normal. Some parents have found that the use of the 'Chu-Chu' teat has been very beneficial. This is a teat for low tone, high palate. It should be available through the hospital, or, a speech pathologist. Feeding can be very time consuming, but don't despair. It does get better as your child develops more muscle tone.
Babies with PWS don't cry very often and if they do it will be quite a feeble cry - you may find that you need to set the alarm for night feeds. They will also sleep a lot, so it is important that when they are awake they receive visual stimulation and cuddles, which are an integral part of their development. Mobiles are great above cribs, and when the baby progresses to a cot have lots of toys and pictures all around. Change position of the baby from sleep to sleep so that he/she is not always Iying on one side. A good idea for when your baby is in a capsule or similar, is to use a padded head rest for extra head support - these are available from most baby shops.
The low muscle tone means that your baby will take longer than usual to reach developmental milestones. There is a wide range for any child's development but most children with PWS will reach these particular milestones as follows:
• Smiling - 4 months
• Independent sitting - 13 months
• Single words - 21 months
• Walking - 28 months
• Sentences - 3.6 years
There are services to help your child through early intervention in areas such as physiotherapy, speech therapy and occupational therapy. These services are available free through the Department of Human Services (DHS) for families of special needs children. Your maternal and child health nurse can give you contact numbers and probably let you know of council services and other avenues of support.
STAGE TWO
The second stage of the syndrome can occur from around 2 years, or in some cases later. You may find that although their diet is pretty much the same they will start putting on excess weight. This may be accompanied by a compulsion to eat and an obsession with food. If nothing is done to manage diet, or restrict food, then serious weight gain can result in life threatening obesity.
In this second stage it is very important to begin a sensible eating plan. Seeking help from a dietician who understands the needs of children with PWS would be the ideal situation. This should be a team effort involving all those people who care for your child (including grandparents). It is harder to cut out certain foods when weight gain starts than to restrict them right from the beginning. Don't buy lollies or sweet biscuits. Don't feed them excessively fatty foods like most takeaways. Water is the best drink for anyone although some children with PWS have a particular aversion to it. Don't buy sweet carbonated drinks - if you have to, use 100% fruit juice with no added sugar and dilute it at least by half with water. Don't use food as a treat.
Do borrow some books from the local library and read up about nutrition. When the weight gain starts a special diet plan will need to be formulated for your child, in consultation with a dietician, as their growth needs have to be taken into account, together with the provision for vitamins and minerals that are necessary for your child's well-being. Exercise is going to be an essential ingredient to help fight the calories, so encourage this from the beginning - make it a family affair and everyone will benefit.
OTHER CHARACTERISTICS
Children with PWS have a range of learning disabilities and their IQ is often in the mild to borderline range of intellectual disability. Most children with PWS go to the local kindergarten and primary school. Some may go through high school or attend a special school where they learn life skills.
It is worthwhile having your child's eyesight, hearing and teeth checked. There may well be nothing wrong but if there is it is better to do something about it earlier than later. Inaccurate body temperature regulation causing your child to become stressed in very hot or cold weather may also be a problem. Children with PWS rarely vomit, and some have a high pain threshold - this means that they can be very ill but they won't complain as other children would. Once you explain this to your doctor he/she will be only too happy to see your child even if it only turns out to be something minor. Small hands and feet, short adult stature, poor balance and coordination are other characteristics.
PWS is a lifelong condition and although lots of research is being carried out, to date there is no cure. There are no known reasons for the genetic accident that causes this condition. There is no cure at present, but we are learning more about PWS everyday and there is hope. Hope that through increased knowledge, we can help all people with this condition to live a fuller life despite their limitations.
Many parents feel that the best way to cope with all this is to take life one day at a time. You may go through a kind of grieving process and this is perfectly normal but it is very important to take care of yourself and your relationship with your partner.
CARER'S ALLOWANCE
Parents can apply for the child disability allowance for their child. Forms are available from Centrelink. This not only provides you with a fortnightly allowance, but it gives your child access to bulk billing and reduced prices for prescription medicines.
FURTHER RESOURCES
There are some terrific resources available on other PWS Sites - we have included some links here.
PWSA(UK)
This site has some terrific information, but you now need to register to have access. Registration is free, and you can register by clicking here.
FEEDING
www.pwsnotes.org/Feeding
My child has been diagnosed with Prader-Willi Syndrome - What now?: This is a leaflet put out by the Prader-Willi Syndrome Association of USA, for parents with a new diagnosis.
www.pwsausa.org/Brochure/nowwhat.htm
Medical Alert for PWS: A list every parent, and their doctor, should have.
(USA) www.pwsausa.org/support/medalert.htm
Common Questions Families ask about PWS and Growth Hormone:
Although a lot of the information on this page is specific to America, it does contain relevant information on GH therapy. You would need to talk to your endocrinologist about starting your child on GH. www.pwsausa.org/syndrome/GHQ&A.htm
Considering Herbal Supplements
www.pwsausa.org/syndrome/herbal.htm
IPWSO Website where you will find Foreign Language versions of "What is PWS?"
www.ipwso.org/
Especially for Grandparents:
www.pwsausa.org/support/grandparent_support.htm
The PWS Playroom
Parent-sponsored website provides helpful information about various early intervention techniques, including feeding issues, G-tube, meal management ideas, pre-speech ideas, sensory integration, and much, much more.
www.pwsplayroom.com/
Email Support Groups:
PWSA(USA) 0-5 eSupport Group www.pwsausa.org/egroups/YIP.htm
PWSA(USA) 6-12 eSupport Group www.pwsausa.org/egroups/Youth.htm
PWSA(USA) Teen eSupport Group www.pwsausa.org/egroups/teens.htm
PWSA(USA) Sibling eSupport Group www.pwsausa.org/egroups/siblings.htm
PWSA(USA) People with Prader-Willi Syndrome eGroup www.pwsausa.org/egroups/pws.htm
• You are not alone
• How will your child be affected
• Stage One
• Stage Two
• Other Characteristics
• Carer's Allowance
• Further Resources