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Points for Reflection

1. Paula says that she was glad that she was not told when she was pregnant that her baby had PWS. Can you imagine why she might feel like this? Some women feel differently, give reasons for both wanting and not wanting to know. Discuss.

2. During her time on the special care unit, Paula felt very alone and scared. How could the nursing staff have improved the support and care provided to her?

Activities

1. Paula says that the nursing staff did not discuss the diagnosis with her. How would you have provided information to Paula?

2. What peer support would you recommend for colleagues whose knowledge of genetics was limited?

3. Identify the types of support that were most helpful to Paula. What does this tell you about improving your own practice?

Quotes

"My path in life has changed I have different friends, mothers of special needs children and they are a special band of people."

"...I have a wonderful consultant who has sorted everything and supported and helped me 100%. Without him, my G.P. and health visitor I do not think I would be where I am today."

"I could not imagine my life without my son, and I can truthfully say thank God I was not told when I was pregnant that my baby had PWS as I am sure I would have opted for termination."

Further information

Prader-Willi Syndrome Association (UK): http://www.pwsa.co.uk/

Guyís and St Thomasí Hospital PWS information sheet.

US National Library of Medicine, Genetics Home Reference: Prader-Willi

Muscular Dystrophy Campaign: http://www.muscular-dystrophy.org/


Location: The Stories
Transcript

You can download the full transcript here

Prader-Willi Syndrome: my sonís story
A complex condition caused by a chromosomal imbalance - Paulaís story

At the age of 45 yrs I became pregnant, the thought of having a baby at my age was terrifying. After a lot of soul searching I decided to carry on with the pregnancy. Because of the risks involved due to my age I decided to have an amniocentesis, the results being the baby a boy was fine. I already had two older children so had already experienced pregnancy, but this pregnancy was nothing like my previous two. In the first trimester I had a lot of bleeding and had regular scans to check the babyís heartbeat. I also felt so tired and sick which I thought would pass, but in fact it got steadily worse. As the pregnancy progressed I just knew something was not right. I felt no movement what so ever and just felt so ill. I put on no weight and even though I was 7 months pregnant I was measuring smaller at each hospital visit. I was having regular doppler scans and various other tests but nothing was showing up. At 35 wks I had an emergency caesarean. My baby a boy was born and was immediately rushed to the special care unit.

Approx six hours after my sonís birth, a consultant came to see me and told me my son had been ventilated and was extremely poorly and they did not think he would survive. My son had severe breathing problems and his lungs had collapsed. He was critical for the next 48 hours and then started to turn the corner. After a week or so my son was able to breathe for himself and was soon out of his incubator. Originally the consultant thought his breathing problems where due to his low birth weight 3lbs 9 ozs and the fact he was 5 weeks early but it soon became apparent to them he had secondary problems as he was so floppy just like rag doll and this had not improved from birth. So a battery of tests, brain scans, and a MRI scan was done. It was first thought my son had a rare life threatening form of muscular dystrophy.

During this time I stayed on the special care unit about 8 weeks I felt very alone and scared. I really did not feel that I got very much support if any, from the nurses and staff on the special care unit. It seemed nobody could look me in the eye I just felt like they felt sorry for me and pitied me. My relationship with my sonís father had broken up so I was on my own. Finally when my son was about six weeks old the results of the genetic testing came back and my son tested positive for Prader-Willi Syndrome (PWS). My sonís consultant shared this news with me. He explained the syndrome to me while also explaining he did not know an awful lot about PWS as he had never seen or treated anyone with PWS. But the consultant was very positive and encouraging about the syndrome and to this day I thank God this doctor is my sonís consultant. But none of the nurses on the unit discussed the diagnosis with me or asked how I was feeling. Initially I felt this is ok but overnight, I felt overwhelmed by the diagnosis and thought I canít do this, I donít want to do this. I even had feelings at this time that it would have been better if my son had been allowed to die, it would have been better. I just wanted to run and never come back. A week later my son was due for discharge and I was just going through the motions getting ready for his discharge. The day before his discharge I finally spoke to the sister on special care, saying I canít do this, a social worker was then called in and arrangements were made for my son to go into foster care. Nobody talked to me, or asked me why I was feeling like this, they just said ok, and my son went into foster care.

The next three weeks were a blur, where I barely functioned, I could not sleep, I did not eat, I was on anti depressants and felt suicidal and I was visited by a psychiatric nurse who asked if I would go into a local psychiatric hospital. My G.P. arranged for a health visitor to come and see me and she visited every other day for a few weeks I was seeing my G.P. and between them I started to get some help and support. By this time my son was 8 weeks old and I had no bond what so ever with my little boy who was in foster care. In the meantime, the consultant had phoned me at home and had also got in touch with the PWS Association and arranged for the family support worker to come and see me. I still at this point felt my son would be better off if he was adopted as I was a single parent and I was 46 yrs old.

Karen from the PWS Association came to visit and we sat and talked and I cried and she listened to my fears, after eight hours of talking, crying I started to feel a glimmer of hope and strength and I realised I can do this, I want to do this, my son belongs with me. The following day I phoned social services and arrangements where made and my son came home. Again Karen came here from the local PWS branch and helped me settle my son in. Yes I was scared and worried and it took me a while to bond with my son. He was ten weeks old and I had never bathed him.

Now when I look back on these 1st weeks of my sonís life I think perhaps if I had been given more support in those crucial weeks maybe my son would never have gone into foster care.

My life has changed so much since my son has been in my life. Yes it is busier; we have lots of hospital appointments, portage, physiotherapy, speech therapy. But the joy he brings me and my family is priceless. My path in life has changed I have different friends, mothers of special needs children and they are a special band of people. In the first year of my sonís life when I looked at this floppy baby who could not cry never woke up all I could see in the future was a child in a wheelchair with a neck brace holding his head up. Nothing could have been further from the truth because my son is a typical 4yr old who walks talks and plays like any other toddler. My son has worked very hard to get where he is today and my family and I am very proud of him. My son is having a dual placement for schooling he does two days at a special school and three at the local mainstream primary school. Again, the consultant went into the primary school and looked round and spoke to my sonís teachers about his condition.

Overall I would say since being discharged from the special care unit, my care from the N.H.S has been very good.

But when I needed help and support in my early days there seemed to be none available. I also think things could be improved if families like mine where given key workers so we can be told what we need, what we can expect in the way of services. Thankfully I have a wonderful consultant who has sorted everything and supported and helped me 100%. Without him, my G.P. and health visitor I do not think I would be where I am today.

When my son was about a year old I saw my geneticist for the second time and she told me my sonís form of PWS was a Disomy. This was very upsetting news for me, I blamed myself I felt totally responsible for the PWS and nothing would sway me otherwise. Today I know it is not my fault. Yes maybe my age was a factor. I have never said why me, because why not me. I could not imagine my life without my son, and I can truthfully say thank God I was not told when I was pregnant that my baby had PWS as I am sure I would have opted for termination.