| HOME | Q & A | JOIN PWSA | CONTACT US | GUEST BOOK | NEWS | SAIDA | LINKS | HELLO |
Toe
jou kind onlangs met Prader-Willi Sindroom (PWS) gediagnoseer is, was dit seker
vir jou ‘n groot skok. Jy wonder
dalk hoe jy en jou gesin daardeur geraak sal word?
Prader-Willi
Sindroom word veroorsaak deur`n ingewikkelde genetiese afwyking wat die 15
chromosoom affekteer. Die gevolg
van hierdie spesifieke genetiese afwyking lei tot `n samestelling van
veelvuldige kenmerke wat die volgende kan insluit:
lae spiertonus
stadige ontwikkeling van mylpale
`n obsessie met eet en kos wat sonder beheer tot erge obesiteit kan lei
abnormale seksuele ontwikkeling
leerprobleme wat voortvloei uit gemiddeld tot erge verstandelike gestremdheid
emosionele onstabiliteit en onvolwasse sosiale vaardighede
kort liggaamsbou
(lees
ook: “What is Prader-Willi Syndrome?” en
“What are the symptoms?)
Ho
Hoe het dit gebeur ? Kon dit
voorkom word ?
Navorsing
toon dat in 70% van persone met PWS ‘n belangrike deeltjie van chromosoom-15
weg is of nie tydens konsepsie ontwikkel het nie (“deletion”). In die ander 30% van persone met PWS het hierdie deeltjie van
die chromosoom ‘n dubbele deel van een ouer ontvang i.p.v. een deeltjie van
elke ouer (“uniparental disomy”). Daar
kan baie redes wees waarom so iets gebeur, maar dit is belangrik om te weet dat
geen ouer daarvoor verantwoordelik gehou kan word nie.
Niks wat jy of jou maat gedoen het, kon dit voorkom of veroorsaak het nie.
Die sindroom kom gewoonlik eenmalig in ‘n familie voor en is dus nie in
die gewone sin “oorerflik” nie. Dit
is ook belangrik om te weet dat jou kind nie die enigste is nie.
Daar word bereken dat 1 uit elke 10 000 tot 15 000 babas met PWS gebore
word.
Is daar behandeling
beskikbaar?
Terwyl
navorsers besig is om die genetiese en verwante afwykings wat die sindroom
veroorsaak te bestudeer, is daar tans nog geen middel beskikbaar om die sindroom
te genees nie. Vir die afgelope aantal jare is daar met die toediening van
groeihormoon (Humatrope) gunstige resultate verkry en is daar gevind dat groei (lengte)
toeneem en dat liggaamsamestelling en gedrag verbeter.
Dit is egter baie belangrik dat die hoof kenmerk nl obesiteit streng
beheer moet word. Konvensionele
eetlusdempers werk normaalweg nie om hierdie eetversteuring te beheer nie en kan
soms `n negatiewe uitwerking hê. Konstante
en streng kontrole oor voedselinname met gepaardgaande oefening is die enigste
werkbare oplossing. Die hulp en
ondersteuning van dieetkundiges is van groot waarde.
Hierdie beheer moet egter met liefde, ondersteuning en begrip vir die
persoon met PWS gepaard gaan.
`n
Spanbenadering in die hantering van die persoon met PWS is baie belangrik en die
volgende kan in aanmerking geneem word:
Beheer oor die dieet
Fisioterapie en/of oefening
Gespesialiseerde onderwys
Spesiaal ondersteunde leef-en / of woonsorg
Met goeie sorg
en bestuur van die sindroom leef persone met PWS gemaklik tot in hul middeljare
mits die obesiteit beheer word. Hulle
kan ook ‘n bydrae tot die samelewing lewer al is dit op ‘n beskermde
wyse,soos in beskutte arbeid.
Wat is die
Prader-Willi Sindroom Vereniging van Suid-Afrika?
PWSV (SA)
Die
Vereniging is in Maart 1990 gestig deur ‘n klein groepie toegewyde ouers toe
daar no baie min kennis oor die diagnose en hantering van persone met PWS
beskikbaar was.
Die
hoof doelwitte van die Vereniging is om:
Ondersteuning aan ouers en voogde van persone met PWS te bied.
Kennis oor en bewuswording van die sindroom onder die publiek, mediese en paramediese persone te bevorder.
Die versorging en lewensgehalte van persone met PWS te
verbeter.
Watter hulp bied die Vereniging ?
Die
Prader-Willi Sindroom Vereniging van S.A. is ‘n vereniging wat inligting
verskaf en bystand aan ouers en ander betrokkenes verleen.
Deur die Vereniging kan lede met ander PWS-gesinne in aanraking kom om
gemeenskaplike probleme en oplossings te deel.
Die
belangrikste voordeel van die Vereniging is egter dat jy nooit die toekoms
alleen hoef aan te durf nie, daar is altyd iemand wat luister en wat deel in jou
suksesse en vrese.
Die Vereniging publiseer `n nuusblad (People With Strength) geskryf deur ouers vir ouers.
Ouers ontvang gereeld die “Wavelength”, die nuusblad van die International Prader – Willi Syndrome Organisation.
Gereelde sosiale byeenkomste waar ouers mekaar leer ken en idees uitruil word gehou.
Werkswinkels, seminare of konferensies oor belangrike onderwerpe word aangebied.
’n Biblioteek met internasionale pamflette, boeke en artikels is deur die Vereniging beskikbaar.
Dr. Engela Honey is die Vereniging se mediese raadgewer.
Kontakbesonderhede:
Tel. (012) 319 2269
E-pos: Kliek hier om 'n e-pos te stuur
Ons
nooi daarom almal wat te doen het met ‘n persoon met PWS om by die Vereniging
aan te sluit.
(gaan
na:
”How can I contact the Association?")
Your child has Prader-Willi Syndrome
When your child was diagnosed with Prader-Willi Syndrome it probably came as a shock. The most commonly question asked is: How will this diagnosis affect me and my family?
What is Prader-Willi Syndrome?
People with Prader-Willi Syndrome (PWS) have a chromosomal abnormality that gives rise to the syndrome. PWS, like all syndromes, is a combination of a number of symptoms that occur together and characterise a medical disorder. Doctors A Prader, H Willi and A Labhart originally described this syndrome in 1956.
PWS
is a complex medical condition that affects boys and girls equally and continues
to affect them throughout their lives. People with PWS have a multiple handicap,
which may include the most, but not necessarily all, of the following:
Hypotonia or poor muscle tone and strength. This is at it's worst during infancy. Children usually get stronger as they grow older. Infants with hypotonia (the so called floppy baby) often lack the ability to control their head, arms and have a weak cry and poor sucking ability.
Insatiable appetite (from about the age of 2) and an obsession with eating that can lead to gross obesity and associated problems, if food intake is not controlled.
Weight problems. People with PWS are faced with a triple weight problem. 90% of people with PWS are always hungry, they put on weight with fewer kilojoules and they have difficulty in exercising due to poor muscle strength and co-ordination.
Underdeveloped genitals and incomplete sexual development.
Short adult stature, small hands and feet.
Developmental milestones are usually delayed.
Variable degree of mental or functional retardation. Great variety in the level of intelligence with the majority falling in the borderline or mildly retarded range. Most suffer from learning disabilities and can have difficulties with balance, co-ordination, speech and language.
Other conditions include behavior problems ranging from stubbornness to
occasional temper tantrums. Strabismus and myopia (cross-eyed ness and
near-sightedness). Back problems (scoliosis). Scratching and picking at sores or
insect bites. Excessive sleepiness. High pain threshold. Dental problems.
What causes PWS? Can it be prevented?
PWS results from a chromosomal abnormality. Research has shown that 70% of persons with PWS have a small portion of chromosome 15 missing (deletion). In the other 30% of people with PWS the same portion of chromosome 15 has two copies that are inherited from one parent
(uniparental disomy), instead of the normal situation where one portion each is inherited from both parents. Many reasons for the development of this condition exist, but it is important to realise that neither parent can be held responsible for the development of this condition. Nothing either parent did or did not do could have prevented or caused the development of the condition. The syndrome normally occurs only once in a family and is therefore not "inheritable" in the normal sense. It is also important to realise that your child is not the only one afflicted. It is estimated that 1 out of every 10 000 to 15 000 babies are born with PWS.
Is there any treatment available?
Chromosomal abnormalities cannot be "cured" in the conventional sense. Researchers are constantly studying the genetic background and the related symptoms of PWS. However, in the past few years the application of human growth hormone to young children with PWS has provided positive results. It has been shown that growth (height) increases and that body composition and behaviour improves with treatment.
The most important "treatment" is however the strict control of diet and the prevention of obesity. Conventional appetite suppressants do not normally work with persons with PWS, and may give rise to unexpected side-effects. Constant and strict control over food intake and exercise is the only practical solution. The advice and support of dieticians in this respect is invaluable. Dietary control should be applied with love, support and understanding for the person affected with PWS.
A team approach in the handling of persons with PWS is very important and the following therapies/procedures must be kept in mind:
Control of the diet.
Physiotherapy and/or exercise.
Specialised education.
Specially supported living arrangements for persons with PWS.
With good care and management of the syndrome persons with PWS easily survive into middle age if obesity is controlled. Such persons can also contribute to society, even if in a form of protected
labour.
What is the Prader-Willi Syndrome Association of South Africa? PWSA (SA)
The Association was formed in March 1990 by a small group of dedicated parents with PWS children. At this time knowledge about the diagnosis and treatment of persons with PWS was very scant and not freely available.
The aims of the Association are:
To provide support for parents and guardians of persons with PWS.
To convey information relating to PWS to the general public and the medical and paramedical professions.
To improve the care and quality of life for persons with PWS.
What support can the Association offer?
The PWSA (SA) is an Association that provides support and information to parents and other persons involved with children with PWS. Through the Association parents are able to interact with other PWS families, and to share common problems and solutions. The most important function of the Association is to ensure that you never have to face the future with a PWS child alone, that there are always people willing to share in your fears, frustrations and successes.
The Association publishes a newsletter People With Strength that is written by parents for parents.
Members regularly receive Wavelength, the newsletter of the International Prader-Willi Syndrome Organisation.
Regular social events are held at which parents can meet one another and share their ideas and experiences.
Workshops, seminars or conferences are held that address important topics.
A library of international pamphlets, books and articles is available through the Association.
Dr. Engela Honey is the medical advisor to the Association.
Contact
details: Tel. (012) 319 2269
E-mail: Click here to send an e-mail
All persons involved with someone with PWS are invited to join the Association.
Jou kind het PWS. Wat nou?