I travelled to Sheffield (England) for a Paediatric Rare Disease Study Day on 20th November, 2015. The study day was provided by the Sheffield Institute for Translational Neuroscience, and hosted by Dr Alasdair Mc Neill (University of Sheffield).
VERY IMPORTANT MESSAGE:
Having attended this very informative study day, I guess there was one overarching point that summarised each presentation – YOU – THE PARENTS – ARE THE EXPERTS . . . DO NOT FORGET THAT . . . AND MAKE SURE THAT THE CLINICIANS / DOCTORS KNOW THAT . . . AND REMEMBER THAT !!!
The one line that summed up the day was from a parent with a child who had a syndrome that has no name:
“It is a journey and we would not change our tour guide”
The first presentation was by Marion Mc Allister from Cardiff (Wales). Marion spoke about her practice and research into genetic counselling and patient-reported outcomes. Marion developed a new questionnaire called The Genetic Counselling Outcomes Scale (GCOS 24) that is very useful in terms of Patient Reported Outcome Measures (PROM).
The presentation reviewed some research that Marion has been involved with.
As all parents know:
Information is power. Without it . . . you have no power.
This was the focus of the presentation . . . and should be the focus of all genetic counselling interactions.
As with most of these study days, it was evident that practice in other countries was ahead of what is available in Ireland.
As Anne Lawlor is fond of saying, another thing for the “to-do” list !!!
The second presentation was by Josh Willoughby, a Clinical Scientist with the Sheffield Diagnosis Genetics Service. Josh presented on Array CGH, the approach that is better than karyotyping.
Array CGH (microarray) – used to identify losses or gains of genetic material across the genome which can underlie many different issues.
The third presentation of the morning was by Dr Meena Balusubramanian, Consultant Clinical Geneticist with Sheffield Clinical Genetics Service.
Meena spoke about genetics in rare paediatric bone diseases – e.g., heritable bone fragility, osteogenesis imperfecta, hypophosphatasia, skeletal dysplasia, etc.
Meena spoke with Anne Lawlor and Marie O’Donnell about getting involved with the issues that are are common in 22q – e.g., scoliosis.
After a well needed caffeine break, there was a presentation by Dr Brian Wilson, Consultant in Clinical Genetics at Great Ormond Street Hospital (GOSH).
The title of Brian’s presentation was: Working with parent groups to facilitate clincal research: The Cockayne Syndrome Natural History Study (CoSyNH).
Brian provided an excellent overview of his research, and importantly, his approach to working with the children and families (e.g., a retreat with the families). Brian was excellent and was was very strongly focused on the knowledge that parents have, and how medical practitioners often do not have this knowledge. Brian spoke about the importance of social media in how parents are getting very knowledgeable and skilled in rare diseases / syndromes.
Brian works with “Amy and Friends”, the support group for children and families dealing with Cockayne Syndrome.
Cockayne Syndrome has a prevalence of four in one million births. The symptomatology sees the child presenting with issues that are more common in older age – e.g., eye sight / cataracts, smaller head, muscle issues, etc.
That is, Cockayne Syndrome represents very premature ageing. The mean age of death for the syndrome is 8.5 years, with a potential to live to over 40 years age, although this is not common at all.
Brian was very refreshing in so many ways. We definitely left with “food for thought”.
After lunch, Dr Oliver Quarrell, Consultant in Clinical Genetics, Sheffield Clinical Genetics Service, presented on Juvenile Huntington’s Disease.
Huntington’s Disease has a prevalence of 10 per 100,000.
Onset of Huntington’s Disease can be at any age, but generally between the ages of 35 to 55 years. Characteristics include (i) movement disorder (slower, Parkinson’s like), (ii) disturbance of affect (can be very self-centred, depressed), and (iii) selective cognitive impairment (difficulty in planning ahead, difficulty in switching tasks, impulsive). In most cases, these issues manifest in behavioural issues.
Oliver spoke about their research exploring Juvenile Huntington’s Disease, which has an onset before the age of 20 years. Whilst genetic work is useful, diagnoses are still clinical / clinical judgement – including the usual issues with one person’s judgement being pitched against the judgement of another medic.
Of interest to 22q, Oliver spoke about the possibility of a remote / virtual clinic and a multi-disciplinary team (MDT) in the area of Juvenile Huntington’s Disease (less than 300 cases nationally).
Anne Lawlor just added something else to my “to-do” list – source a Health Economist to cost the benefit of a Clinical Nurse Specialist (CNS) to “front” such a service.
All of us are interested in 22q. Knowing the name of the condition is useful – even if we have to read about Di George Syndrome, VCFS, etc., and have to come to terms with the hugely variable phenotypic expression of 22q.
The next presentation was from parents of children who have a syndrome that does not have a name.
Jo Burt, SWAN (Syndromes Without a Name) UK Parent Representative made us aware of what it is like to be a minority within a minority. Other parents told us about their journey with their children – Jacob and James.
In their support group, the families are “all the same . . . but all different” and find it useful to “have somebody else who knows what it is like to have nobody else who knows what it is like.”
The most important line of the day was from one of the SWAN parents:
“It is a journey and we would not change our tour guide”
Saturday 26th September, 2015
Well – that was a great day out at the 22q Ireland Annual Conference! It was great getting the opportunity to meet with many of the young adults and also with the families who were there. We were able to conduct a focus group with the young adults – very insightful and lots for the research team to think about.
Monday 10th August, 2015
A very productive meeting in Belfast with Gillian Cassidy (22q Northern Ireland) and Anne Lawlor (22q Ireland). This meeting was exceptionallyy useful as it allowed us all to discuss common issues and possible approaches to future goals – e.g., establishment of a 22q11.2 Deletion Syndrome Clinic.
I was delighted to have Gillian’s support for the research programme and her offer of contacting the Northern Ireland families about their participation in the research.