My son was born by Caesarean section with a genetic disorder - Prader-Willi syndrome. Within a few hours we knew that there was something wrong. He was floppy, sleepy, wouldn’t suck and couldn’t keep his body temperature at normal.
How has it changed your life?
I’ve no idea! What would life have been like if he had been ‘normal’? At least I know what is ‘wrong’ with him. But sometimes if he does something, I think, is this the PWS? Or is this just because he is a boy!? I was fortunate in that when I went back to work I could afford to take on a nanny who had experience and aptitude to work with a disabled baby – even though I couldn’t leave hospital without him I couldn’t stay at home full-time to look after him! Have you read the book ‘Expecting Adam’? Life with my son is a bit like that.
What is your experience of the care you have had from the NHS (either positive or negative)
The hospital staffs were marvellous. Within 24 hours one of the young doctors had already suggested that it might be PWS and they started the blood tests. He was in the Baby Special Care Unit and between the nurses and his parents he was well looked after. Because he slept most of the time the nurses spent time giving him physiotherapy. They also helped me by giving me facilities to express my milk and allowed me to stay at the hospital. I couldn’t leave him until I knew when he was coming home. He was allowed home when we had learned how to put in and take out his NG tube. They taught us how to calculate the amount of milk he should have by his weight. They gave me the equipment which allowed me to express my milk at home - he had breast milk until he was 16 weeks old.
Could you tell us about one experience that you particularly remember? (either positive or negative)
The experience is both negative & positive - I had to stay in hospital for a few more days than normal as he was born by Caesarean, but when it was time to leave I couldn’t leave without him. Although I had a husband and young daughter at home I knew that they were fine, visiting every day, I couldn’t leave my son - it was a 30 minutes car journey to the hospital and I would have to rely on others to drive me. Also, through the pregnancy I had imagined him coming home with me. So, I asked if I could stay. The most senior sister on the maternity ward was marvellous she allowed me to stay for 3 weeks and 2 days; my son came out 3 days later. A couple of the less senior nurses were quite critical of me staying but fortunately I was able to ignore their comments because of the others.
How could we improve care for you and your family?
I don’t think that you could. The doctors and nurses can’t be expected to know everything, so it is important that they share their knowledge. They brought in all the specialists we needed right from the start including the speech therapist and the physiotherapist. There was a nurse who visited regularly when we came out of hospital, she was important as well. They were all very supportive.
What was it like to find out the news that your baby had a genetic condition?
By the time he was officially diagnosed (at 23 weeks) I had already got used to the facts. I was worried; we were told that he may not walk or talk until he was 5 - he walked at 19 months and his communications skills are up with his peers, and have been since he started nursery school. We made contact with the charity PWSA (UK) quite quickly, and even spoke to parents with PWS children over in USA, via the internet. I had to take everything in my stride; the pregnancy had been difficult -not because of the PWS, so it was just another problem to sort out.
What impact has it had on you and your family?
I don’t know if I can answer that because I have nothing to compare it with. I went back to work as I would have done if he had been ‘normal’. We’ve done lots of things, we haven’t let the PWS get in the way of anything, including going out for meals, shopping, holidays, staying at grandparents & friends, etc. We all had to learn, my son, the family and friends.
Did you get a lot of info about the condition?
As far as I can remember, all the information that I got about PWS was from the charity, PWSA (UK). The visiting nurse came to make sure mother and baby were OK, a friendly face who could see that my son was improving whenever she saw him, and tried to get help from Social Services. I say tried, because it was unsuccessful. The physiotherapist was marvellous and helped enormously with my son’s development - he has poor muscle tone. The speech therapist continued to see him and advise me. The first occupational therapist was very good, but since I have found them unsupportive. The first dietician was very good, but when I took him to see one who talked about her teenage son who wouldn’t eat (my son at the time was 4 and about to enter into the ‘eating disorder’ part of PWS), I decided to stop going along, it was a total waste of time - she obviously hadn’t got a clue! I already knew enough, I continued to take him to be weighed & measured so that we could keep an eye on his BMI. I took it on myself to put him on a low-calorie diet from a very early age. I was aware that the fat in milk contains vital vitamins and minerals so I supplemented his low-fat diet with additional V&M tablets.
Focus a bit more on the nurses - e.g., the nurse who came to visit in the community? Did the nurses have sufficient info to support you?
Each of the medical folk who see my son is looking at a specific problem with him, not at the PWS as a whole. PWS is primarily viewed as an eating disorder. But my son has not shown a very great interest in food compared to other children with PWS. He has continued to be seen by the physiotherapist, and occasionally by the school doctor. We see the endocrinologist for growth hormone treatment (for the low muscle tone, low stamina & slow metabolism), but he and his supporting nurse had not dealt with a child with PWS before, although they were aware that tests needed to be done on my son before we could start trying the GHT, and they continue to do tests on him through the treatment. He has also been seen and operated on by a paediatric surgeon for undescended testes.