Saturday, July 20, 2013

Conference, Day 2

Fitzwilliam College, Cambridge
Pictures are of the grounds of Fitzwilliam College in Cambridge.  It's one of the newer colleges so the buildings are more modern than the older ones.  The weather, as you can see, is fine and hot.  It has been this way for many days now with temperatures reaching 30C.  Thankfully, two of the main rooms where the conference is being held, have airconditioning...

Entrance to Fitzwilliam College
Day 2 saw the completion of the Scientific Programme and the Caregivers' Programme.  I was interested in reading some of the posters.  There was one from Israel about pre-natal diagnoses of PWS and whether there are vital 'clues' in utero that might indicate the presence of PWS.  These came mainly from various measurements of the foetus when compared with a normal growth rate.  There are differences in growth, head circumference etc and so now it may seem possible that in the near future pre-natal tests can  in the done in the first few weeks of pregnancy.  I learned that since this has been put into practice for Down Syndrome, the percentage of DS births has diminished considerably.  It is surely an ethical dilemma.

A long-term follow=up study has been done on patients previously presenting with psychotic illnesses, looking at the recurrence of any further incidences and at the general health of the individuals since their partiuclar episode.  Of 20 patients, mostly with the UPD (uniparental disomy) diagnosis, only two had experienced a recurring eposide.  Of these two, one was UPD and the other was PWSDel (deletion).  The majority of patients were taking psychotic medicine, and ten out of 18 were taking more than one type. The conclusion was that relatively few people had more than one psychotic illness; that after regaining their health they maintained it, and that medication played an important role in helping maintain this balance.  This was a study done by Prof Tony Holland et al.

Quite a lot of information is now being gathered as to the often adverse affects of anaesthetic on those with PWS.  Having come through whatever operation it was, there are now some worrying anecdotal stories of patients displaying odd and different behaviours.  Talking to other parents, I found other cases of this happening.  The patient can present with hallucinations, confusion, poor sleep, violence, bizzare behaviour and so on.  It is suspected that these are triggered by their response to the anaesthetic.

I was interested in a poster looking at the amount of depression suffered by parents of children with PWS, particularly the mothers. thirty-nine completed the survey, of which 8 were fathers,  The results showed that 36% showed mild to moderate depression and severe depression was not found.  Personally, I found this rather comforting - it must mean that the support, information, and knowledge that is available today is much better and more helpful than it was some 30 years ago when many of us faced the complete unknown.

(Some views around Cambridge)







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