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Old 04-12-14, 04:58 PM   #1
Allan
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Join Date: Sep 2012
Location: Hastings, East Sussex, UK
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Default JHD - Services Improvement Study

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Hi everyone

I have been invited to become a lay member of a JHD study/project taking place at Sheffield Children’s NHS Foundation Trust. [see page 18 of the current HDA Newsletter]

The study, led by Dr Oliver Quarrell, will be assessing services for Juvenile Huntington’s Disease.

The study aims to obtain the views of patients, carers and professionals delivering services on the current service provision “when a young person develops JHD”. Working with researchers in the NHS the study will seek to discover what services are being used. What do young people need? What do they value? Are there better ways of delivering services and providing care?

The non-professional, family member’s representations to the Advisory Board will ensure that the project is being steered in an appropriate direction. It is a rare opportunity to place the role of the family Carer in the forefront of “improving services”, initially for young jhd-people.

As soon as I receive information from Dr Quarrell’s team I will be able to gauge who I can represent and what I can do. I hope those of you who have been through this situation will contact me via Private Messaging and give me as much information and detail as you can as to the positives and negatives in this area – and how “the services” can be improved from a family member perspective.

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Juvenile Huntington’s Disease is a rare form of HD and is defined as onset under 20 years of age and represents approximately 1-10% of cases. The younger the age at onset usually gives a higher number of CAG Repeats, ie above 60.

In JHD, particularly in those with onset in the first 10 years, movement disorder [chorea] is less likely to be present and instead, patients are more likely to display rigidity, bradykinesia, dystonia and gait disorder, ie. parkinsonian features. In addition, JHD patients are more likely to develop epilepsy than adult-onset cases. The spectrum of features at presentation can also include ataxia, dysarthria, dysphagia, deterioration in school performance or severe behavioural problems.

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