Prader-Willi Syndrome

N.B.(if you have come to this article because you have a child with prader willi syndrome, please feel free to contact me and I will help you in any way i can, as a first step i thoroughly recommend a look at yahoo groups that cover prader-willi as a sharing of experience.) Why not comment this article and leave your experience worries or cares for others to see and learn from…my love goes out to you.

One of the greatest challenges of my life is the fact that my daughter has a genetic syndrome, called Prader-Willi Syndrome. To most people who met her would think her a pretty normal little girl. She is very lucky in that she is very attractive and the syndrome effects her relatively mildly, but it does effect her and for many years we were in denial about it.

Although its effects have been ameliorated by regular growth hormone injection, which has made her grow toward the median, feel better and gain better muscle tone and balance, she is still challenged by food (weight gain, constant hunger, obsession with food, deviousness and lies to gain food) behaviur (sometimes in the autistic spectrum, obsessional, inability to compromise, inability to admit fault, extreme expression of emotion, inappropriate behaviour and talk) a learning difficulty (maths, time, geography, and more)

However she also has a number of things which balance this out, she is an accomplished artist (my mother is a professional artist and pointed this out to me), she can also be extremely charming and she is a genius with animals, calming a slavering wolf would not be beyond her.

Since her official diagnosis my daughter has also been in a kind of denial. The pressures on children to conform to be part of or associated with certain groups or types is immense. Children with disabilites however minor are so often rejected or find themselves outside the bounds of the accepted conformity. And like all children she desperately wants to be part of the in crowd, know think and do like they do…

Since my seperation from my partner I have realised how her challenges have challenged me.

I recently took my kids to see their grandma and for my sons birthday, I knew a problem was coming and I knew i couldn’t manage it and my daughter set out to ruin her brothers birthday. Her behaviour was awful, and it seemed to me uncontrollable. I felt deskilled, I felt flawed, I felt out of control and unable to contain the situation. Her flaws , her difficulties helped magnify my own, it was as if she gave me all of the things she could not hold or contain within her own identification of herself.

My sons birthday whilst a difficult time for all was rescuable and he enjoyed himself. But my daughters syndrome is not rescuable. At a distance I was able some days later to reevaluate the day, her behaviour, my attitudes, my lack of acceptance, patience, care and concern.

But now even further away it outlines to me, not just mine, but our attitudes to many people with disabilities and challenges in their lives…our prejudices are enormous, even mine with regard to my own daughter…the ray of hope was a man I met on the previous Sunday who told me of his work with young kids in schools, on disability. What he said I suppose is like the ideas of the Jesuits…it is that if he could get to kids young enough he could educate away prejudice, and this gave him the sense that he could create a better world.

Prader Willi – Definition and Advice (authored by Climb UK)

Prader-Willi Syndrome (PWS) is a genetic disorder first identified by three Swiss doctors in 1956, Drs Prader, Labhart and Willi. Its features include food obsession, shortness of stature and poor muscle tone. It affects boys and girls alike, and occurs in families from all backgrounds. It is estimated that one in every 10,000 to 12,000 births will have the disorder. It is the most common known genetic cause of life-threatening obesity in children.

Research indicates that PWS may be the result of four different genetic abnormalities on chromosome 15. In approximately two-thirds of cases there is a deletion on chromosome 15 coming from the father. In about 30% of cases both copies of the chromosome are inherited from the mother, instead of one from her and one from the father. If you have one child with PWS it does not necessarily follow that you are any more likely than the population at large to have another, but genetic counselling is advised. Genetic testing is by DNA (blood) sample of both partners and the affected child.

Early indications: PWS, being a genetic disorder, is there from birth. In the very early months parents may notice that their baby has difficulty sucking, is very quiet and sleepy compared to other babies, and appears to be very ‘floppy’. Later, from about six months to a year, their baby will become more alert and awake as the tendency to sleep recedes, but the early feeding problems will be replaced from the age of two onwards by an almost insatiable desire to eat, although the intensity of this feature will vary considerably between individuals.

Physical characteristics: These may include short height, very small hands and feet, narrow face, small mouth, almond-shaped eyes and underdeveloped sexual organs. It has also been noted that up to half of Caucasian children with PWS will be fair-haired and have blue or grey eyes, regardless of their parents’ colouring.

Developmental delays: Motor and language skills will be affected, resulting in late walking and talking plus problems with articulation.

Behaviourally: In their early years the children are friendly, loving and placid, but behavioural difficulties usually set in and become more severe as the children grow and they have to cope with their insatiable desire for food. Stealing and hiding food may become common activities as the obsession grows, and many outbursts of temper and rage can be put down to these ‘needs’ being necessarily moderated by their parents or carers. Others may relate to any change in their accepted daily routine which will upset them. Anxiety and worry may result in compulsive skin-picking and other similar self-injurious behaviours.

Other: Possibly high pain threshold, sleep disorders, breathing difficulties, curvature of the spine and physical inactivity. Psychiatric problems are not uncommon in adolescents and adults.

In general: Comprehension is generally better than verbal skills. Moderate learning difficulties across the board are common, but severe learning difficulties are rare. Many individuals will have specific difficulties with maths, writing, short-term memory and auditory processing.

Children with PWS have good visual organisation (parents have observed a higher than average ability to do jigsaw puzzles), good reading skills and a wider than average vocabulary. When they are older they may be over-friendly, chatter a lot, be immature compared with their peers and be socially isolated.

Remember , not all babies and children with PWS will display the same characteristics, or to the same degree, as another child with the disorder. Control of their diet is the major problem with this disorder and must be seen as a prime goal if the young person with PWS is not to become obese with subsequent life-threatening or damaging implications. This is especially true when a young person with PWS is allowed more independence and thus more access to food. Unfortunately, appetite suppressants are not generally successful and sometimes have side-effects.

The majority of children with Prader-Willi Syndrome will become adults with Prader-Willi Syndrome, and as long as their general health stays good and their tendency to obesity can be controlled, their life expectancy will be much the same as the general population.

Useful Hints:

As with many disorders, a multi-disciplinary approach is advised and should include input from physiotherapists, occupational and speech and language therapists
GPs will often make a referral to a dietician / nutritionist for a controlled diet and eating plan
Encourage a daily exercise routine from a very early age: seek help from local sports centres
It is not a good idea to use food as a reward with these children! Try a rewarding trip to the swimming pool, gym, walk on the beach or in the countryside.
Teachers must be aware that their student with PWS may have problems with:

coordination
handwriting
maths
abstract concepts
attention span, especially if required to listen for ‘long’ periods
socialising skills
controlling their hunger
controlling their temper, particularly if they want to eat and food is withheld
worries and anxieties involving all the above which may result in minor self-injury

Links to other PWS sites here Books on Prader Willi Syndrome here

Link to the Prader Willi Syndrome Association

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