Pallister-Killian Syndrome |
Jessica's story - by James Evans |
(jamesd.evans@bigpond.com) |
Name of parents |
Wendy and James Evans |
Name of child |
Jessica Alexandria Evans |
Male/Female |
Female |
Date of Birth |
5th September 1991 |
City/town of birth |
Sydney |
Country |
Australia |
Hospital (or other place) |
Royal Hospital for Women, Paddington |
Name of geneticist/s |
Dr Gillian Turner & Dr Bronwyn Kerr |
Birth weight |
3735 grams (8lb 4oz) |
Birth length |
52 cm |
What signs were present? |
|
When was PKS first diagnosed? |
November 1991 |
Name of Paediatrician |
Dr Barry Duffy, Prince of Wales Hospital, Randwick |
Brief summary of medical history |
|
Parent’s commentary Jessica was our first child delivered by emergency caesarian section when Wendy was 38 years old (I was 39). Two ultrasounds (18 & 34 weeks) and an amniocentesis failed to give us advanced warning of the syndrome. Some of Jessica's symptoms were immediately obvious, others were discovered over nine weeks. If you are a parent of a child with PKS I am sure you will recognise some of the intimidating medical language in the symptoms above. The ten weeks after Jessica’s birth were some of the most traumatic Wendy and I have ever experienced. Endless processions of doctors, myriad blood tests, scans and other procedures. Conversations with specialists often left you with more uncertainty than when you started. After a while we learned to fend off doctors who were simply professionally curious, and not essential to Jessica’s wellbeing. This said, we were extremely fortunate to have a number of quite brilliant specialists around us, principal of which were our astute and kind-hearted geneticists, and a neurologist we called ‘God’ (on account of his kindly eyes, big beard and his name, Dr Wise). Throughout this ordeal it was quite clear to us that Jessica was a survivor, despite some 93% of her cells being affected. And so it has proved. She will be eleven this September and is generally in good health. It is unlikely that she will ever walk, talk or be continent but she seems happy in herself most of the time. She eats well (pumpkin is a favourite, as is sweet chilli sauce, and banana/avocado mash) and particularly enjoys banana smoothies. She still ‘switches off’ quite often, rolling her head from side to side (in sunglasses she does a good impression of Stevie Wonder!). She attends the Royal Institute for the Deaf and the Blind, and (with assistance) swims, horse rides and enters the occasional wheelchair race! She likes being tickled, massages, sparkling objects, music, hugs and being spoken to a lot. We have met two other children with PKS; one in England, the other here in Sydney, Australia. In 1993 we had a second child, Harrison. It was a difficult decision to make, and the pregnancy was very difficult. He is the most wonderful child and there has never been once when we have regretted the decision. Incidentally, our geneticists said that there has never been a case reported of two PKS children in one family. The odds on a second child with a chromosomatic disorder were quoted as 1:105 aged 38 and 1:80 at age 39. Jessica has taught us much about life. It is difficult to look too far into the future without being depressed, but there are some great consolations in the here and now. She has introduced us to some quite wonderful people, friends and new aquaintances, who help us care for her. But life is challenging. Jessica is now almost too heavy to lift, so we are faced with the expensive alternatives of either moving house, or doing substantial renovations in the 3 bedroom terrace we now live in. Equipment, too, is expensive. Wheelchairs, an accessible van, hoists, physiotherapy frames, potties, beds … the list goes on. Wendy and I would be happy to converse with others. The only warning is that we, like you, are very busy! |