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?

  • Dysmorphic features
  • Single umbilical artery with hypertelotism
  • Flattened simple ears (ears lower than normal)
  • Redundant neck skin
  • Sparse scalp hair
  • Supernumerary nipple
  • Cleft soft palate
  • Vestibulo anal fistula
  • Systolic murmur which was a secondum ASD and PDA
  • Jaundice

When was PKS first diagnosed?

November 1991

Name of Paediatrician

Dr Barry Duffy, Prince of Wales Hospital, Randwick

Brief summary of medical history

  • Jaundice resolved in hospital.
  • Problems with heart resolved.
  • Ultrasound over the sacral dimple demonstrated no spinal tethering.
  • CT scan "demonstrated generous ventricles, partial agenises of the corpus callosum and Lissencephaly of grave prognostic import".
  • Anal fistula dilated daily before and for 6 months after after an operation reconstructed her anus - (operated on at 3 months).
  • Cleft soft palate operated on successfully at 18 months.
  • Small fits (mutifocal myoclonic jerks) observed and treated with Epilim (still has 2 mls in morning and 3mls at night).
  • Low muscle tone caused constipation (Jessica still takes Senokot in morning and 5ml of Paraffin oil at night).
  • Aural examination revealed total hearing loss in left ear and 66% loss in right. Now wears hearing aid in right.
  • Has upper respiratory airways obstruction with tracheal stenosis (heavy breathing).
  • Has recurrent ear infections.

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!


Last update: March 2002


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