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Easy reader Williams syndromeEasy readerWilliams syndromeFor adults Ågrenska 2012, www.agrenska.se1

Easy reader Williams syndrome Produced by Ågrenska, financed by the Swedish Inheritance FundText and editing: Jan Engström, Gunilla Jaeger and AnnCatrin Röjvik, Ågrenskain cooperation with Funka Nu and individuals with Williams syndromeMedical facts expert: Peder Rasmussen, Queen Silvia Children s HospitalLayout and illustrations: Danaxel Lindberg, Box InformationTranslation: Linda Schenck, Artful AB Ågrenska 2012, www.agrenska.se2

Easy reader Williams syndromecontentsWilliams syndromeWilliams syndrome?.page 4What is Williams syndrome?How common is Williams?.page 7Why does Williams develop?Can children inherit Williams?When can you seethat a child has Williams?.page 8How is the diagnosis made?Williams syndromeoften includes heart defectsHigh blood pressure.page 9Blood calciumExercise.page 10Why are people with Williams short?TreatmentDental care is important.page 11Support and help in the communityInterviewHelen has Williams syndrome.page 12What was it like growing up withWilliams syndrome?. page 13Are there things about Williamsthat have held you backwhen choosing what to study?What is the hardest part of beingan adult with Williams?. page 14 Ågrenska 2012, www.agrenska.se3

Easy reader Williams syndromeWilliams syndromePeople are alike and different.Everybody has some things that work welland some things that do not.In this information material,things that do not work so wellare called symptoms.A group of symptoms can be called asyndrome,like Williams syndrome.- It is good to have a namefor the symptoms.That helps the medical servicesknow how to treat them.You can get help and support from yourcommunity.You can live a good life.That is what Doctor Peder Rasmussen says,and he knows lots about Williams syndrome.What is Williams syndrome?People with Williams syndrome may havea number of different symptoms.short andgracefultalkativenessa large mouth Ågrenska 2012, www.agrenska.se4

Easy reader Williams syndromeHere are symptoms some that are typical of peoplewith Williams: A special appearance:For instance, eyes set far apart,a pug nose, a large mouth, little teeth.People with Williams are oftenshort and graceful,with sloping shoulders. Physical symptoms:For instance, awkward motor skills,short stature, squinting, hoarse voice. Intellectual disabilities:Learning difficulties,for example with reading and writing,concentration, speech and language difficulties. Special behavior:For instance quick mood swing,talkativeness, worry and distress, overactivity,and a tendency to be obsessive.Many people are very sensitive to noise. Other things:Many people with Williams have troubleunderstanding how other people think andwhat they are feeling.They may find it difficult toplay with and cooperate with others.Some people also have unusual interests. Ågrenska 2012, www.agrenska.se5

Easy reader Williams syndromeMany people with Williams need clear routines.They also like to know in advancewhat is going to happen.Lots of people with Williamsare good at seeing details,but find it difficult to see the whole picture.Many are good at recognizing people andremembering their names.Lots of people with Williamsfind it easy to talk,but difficult to understandwhat other people mean. Symptoms adults may have:–––––diabetesthyroid problemshigh blood pressuregroin herniasintestinal pockets that can lead toconstipation and inflammationMuscle tension may get too high.Joint flexibility often decreases.Joint flexibility oftendecreases.Adults with Williams may have depressions,with anxiety and distress.If this happens,they will need a great deal of help. Ågrenska 2012, www.agrenska.se6

Easy reader Williams syndromeHow common is Williams?Williams syndrome is very unusual.In Sweden, about ten children a yearare born with Williams syndrome.It is equally common in boys as in girls.Why does Williams develop?The human body is made up of millions ofcells.Different cells have different functions.Some cells develop into the heart, andmake it work well.Other cells develop, for instance,into the kidneys, the skin or the brain.Each cell is so tiny it can barely be seen.And yet each cell is fully programmed.This is called our genetic make-up.The program determineswhat each cell will become and do.Sometimes the programming goes wrong.When that happens,the person may have a sicknessor a syndrome, such as Williams.Can children inherit Williams?Usually, a child born with Williams has twoparents who do not have Williams.This is explained by a problem thatdeveloped in the child’s genetic makeupat conception.If one of the parents has Williams,the children can inherit it. Ågrenska 2012, www.agrenska.se7

Easy reader Williams syndromeWhen can you seethat a child has Williams?Children with Williamshave varying symptoms.If a child has many of the typical symptoms,it is possible to seethat the child has Williamsas early as infancy.But some children do not have so manysymptoms.In those children it might not be clearthat they have Williams syndromeuntil they are in school,or even later.How is the diagnosis made?If the doctors suspectthat a child has Williams,they may take a blood sample.After the blood sample is analyzed,they can tell if the child has Williams.Williams syndromeoften includes heart defectsChildren with Williamsmay be born with a heart defect,discovered when they are newborn babies.Sometimes a heart problem candevelop later. Ågrenska 2012, www.agrenska.se8

Easy reader Williams syndromeIf the child has a heart defect,the doctors can usually hear a murmur.Doctor Peder Rasmussen says:- We can see most heart defects usingultrasound equipment.The most common heart defect is calledSVAS.In SVAS, the arteries that pump the bloodfrom the heart into the bodyare too narrow.Sometimes other blood vesselsare also too narrow.They can be widened with an operation.After heart surgeryit may be necessary to take medication.High blood pressureMany people with Williams develophigh blood pressure as they age.This is because the walls of theblood vessels get harder.It is good to have your blood pressurechecked regularly.Blood calciumChildren with Williams may havetoo much calcium in their blood.If so, it is importantto be careful about the calcium levelsin food and drink. Ågrenska 2012, www.agrenska.seIt is good to have yourblood pressurechecked9

Easy reader Williams syndromeExerciseExercise is important for the blood circulationas well as for muscles and joints.A person with a heart defect must talk with thedoctor and decide on the right level of exercise.It is also a good idea to havecontact with a physiotherapist.Exercise isimportantWhy are people with Williams short?Children with Williams often come intopuberty early.They stop growing a little earlierthan others.When that happens,they do not end up very tall.TreatmentA lot of the symptoms need treatment.It is important, for that reasonthat adults with Williams haveregular health check-ups.Many people with Williamsdevelop muscle and joint stiffnessas they get older.When that happens,contact with adult habilitation is useful.Adult habilitation is also helpful for peoplewith behavior problems. Ågrenska 2012, www.agrenska.se10

Easy reader Williams syndromeSupport and help in the communityPeople with Williams often needhelp and support from the authorities.FlourIf you use fluoridated toothpasteyou will have a better chanceof not getting cavities.Tandkr ämDental care is importantIt is important to brush your teethmorning and evening.Dental careis important.There are laws regulating the rights ofpeople with an illness or a syndrometo support and help.One such law is called LSS, which standsfor the law on support and servicefor some people with disabilities.You may need help in finding a jobor some other occupation.If you are living on your own,you may also need help to manageshopping and cleaning,for instance. Ågrenska 2012, www.agrenska.se11

Easy reader Williams syndromeThe Health and Medical Act,is about the right to medical care habilitation personal aids transportation to and fromthe hospital or health centreYou can get help from the habilitation centreapplying for medical and transportationservices.InterviewHelen has Williams syndromeHelen is a 43-year-old woman.She lives in a nice one-bedroom flat.Her personal helpers live in the samebuilding.Helen gets help with her cleaning, laundryand cooking.Helen goes to an occupational centreon work days.At the momentshe is packing holiday greeting cards.She enjoys her work. Ågrenska 2012, www.agrenska.seHelen enjoys her work.12

Easy reader Williams syndromeWhat was it like growing up withWilliams syndrome?- My parents found out I had afunctional disabilitywhen I was two years old.I realized early on that I was different.Maybe when I was about six.I was diagnosed with Williams syndromewhen I was nine.After that, it took many years for meto understand what it meansto have Williams syndrome.At home we often talked about ways ofliving with Williams, says Helen.- I wanted to trygoing to the same school as my friends.I was not allowed.They said I would not be able to cope withbeing together with so many people.Are there things about Williamsthat have held you backwhen choosing what to study?After comprehensive school,Helen went to an adult education centre,a folk high school,for several years.She recommends that type of schoolfor people with Williams. Ågrenska 2012, www.agrenska.seFolk high school13

Easy reader Williams syndromeShe had a room of her own andlots of friends.She really enjoyed being there.- We studied, but also had parties and lotsof fun activities.I was really happy at the folk high school.But I did not learn a trade.Later in life, I applied for jobsthat were too difficult for me to manage.Like everyone, I have dreamt of having agood job.Today I am content with the job I have.Now I accept my disability.What is the hardest part of beingan adult with Williams?- I would like to have a house,a family and children.Now I am too old to have children.Most women over 40 have trouble havingchildren.So now I would like to be with a manwho already has children.Maybe we could be a family.Until then I will make dowith my two parakeets.They are my little children . Ågrenska 2012, www.agrenska.se14

Easy reader Williams syndromeI really like the building I live in.We are like one big family.That makes me happy.I really enjoy spending timewith other people.My favorite thing is being with my familyand relatives.Helen says she never feels really free.She cannot do whatever she wants to.- I always have to haveone of the helpers with mewhen I go out.I have one personal helper at home,and one at work.There is also someone who is mycompanion.I cannot go into town alone.We usually only go into town aboutonce a month or so.I would like to go more often.Earlier, Helen had a lot of troublewith mood swings.Sometimes her hot tempercaused her problems.- Now I take medication.I am much better from it.Much more even-tempered, Ågrenska 2012, www.agrenska.se15

Easy reader Williams syndromeÅgrenska, Box 2058, 436 02 Hovås, SwedenPhone 4631-750 91 00E-mail: [email protected] Ågrenska 2012, www.agrenska.se16

like Williams syndrome. - It is good to have a name for the symptoms. That helps the medical services know how to treat them. You can get help and support from your community. You can live a good life. That is what Doctor Peder Rasmussen says, and he knows lots about Williams syndrome. What is Williams syndrome? People with Williams syndrome .