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Arthrogryposis 3rd International Meeting

Report on the Third International Arthrogryposis Symposium held on

24–26 September 2018 in Philadelphia, USA

This report from Gill Smith of GOSH who attended the meeting:

The meeting was excellent with a mix of patients, parents, surgeons, geneticists, therapists, orthotists and developmental biologists.  The patients and families were driving a lot of the impetus. Many ideas came out of this - is just a question of whether people get time to work on them when they return to normal life.

This was an inspiring meeting, held in Philadelphia, with many Canadian and North American
delegates, a large Polish group from Krakow and five surgeons from UK. The inspiration came from
The Arthrogryposis Group who spearheaded the organisation of the meeting and the willingness of
multiple different groups (patients, parents, surgeons, therapists, geneticists, biologists and
neurologists) to work together in establishing diagnosis and best treatment and disseminating this
knowledge.

There were lectures but also consensus group discussions on producing guidelines, for example, in
antenatal diagnosis and obstetric management to allow early movement of the baby. There was
information given about currently known neural protectants that may be suggested in pregnancy
that may reduce the severity of the problem when it occurs.
There was emphasis on correct diagnosis and agreement that the current arthrogryposis tests were
inadequate, did not include many known causative genes and that the way of the future is whole
genome testing.

Unfortunately, the Russian delegation had issues with US visas which meant that they couldn’t be
there in person but they did send presentations. There was much discussion about their excellent
results and also about differing results and resources in different countries. Patients in some
countries are inpatients for months for therapy post surgery and others have daily physiotherapy
which contrasts with NHS where this is rarely a reality and other countries where the patients don’t
even have an option of surgery.

There was some encouraging work on an experimental inflatable armpit device (like waterwings for
swimming) that allowed children to have their shoulders elevated so that they could interact with
their environment easier.

The contribution of parents and patients was invaluable, not only in running the meeting but being
prepared to confront professionals with their experience and what they considered was important,
which didn’t always agree with what the professionals thought.

The next meeting is in Montreal in 3 years but the dates are yet to be announced. I am trying to
encourage UK surgeons and therapists to attend but I think that UK patients and parents would also
find it helpful to see what the charity group is achieving in driving forward care.


 

 


Freeman-Sheldon Syndrome Survey

Genetic Alliance UK are asking for your help with a survey into

Freeman-Sheldon Syndrome (Distal Arthrogryposis Type 2A)

Louise from Genetic Alliance writes:

Thank you for all your help back in May with Genetic Alliance UK's submission to the PGD licensing committee about distal arthrogryposis multiplex congenita type 2B. We have since found out that the license was granted, and so PGD is now available in the UK for people at risk of passing the condition on.

We have now received notification that an application has been made to license PGD for Freeman-Sheldon Syndrome (Distal Arthrogryposis Type 2A). Might you perhaps be willing to complete another survey? https://www.surveymonkey.co.uk/r/SWXFSZV)

Thank you

Louise

Find out more about Genetic Alliance UK at www.geneticalliance.org.uk

 


 


Family Weekend 2018!

Family Weekend 2018!

Saturday 20 October and Sunday 21 October

This year's Family Weekend and AGM will be held at the Double Tree by Hilton Hotel at Paradise Way, Walsgrave Triangle, COVENTRY, CV2 2SR, just off Junction 2 of the M6.

More details very soon but start planning. It will be subsidised by TAG and fantastic value. If you have been before to one of our Family Weekends then tell other TAG members you know how good it is.

More about TAG Family Weekends >>


 


Mummy Blog

One of our members has a blog!

Becky Halliwell is first time mum and has arthrogryposis. Her blog atells the story of her life and being a new mum. Read here >>  


 


Would any of you like a pen-pal from Chile?

We recieved this email from Sebastian in Chile who has AMC.

Dear TAG,

Hi. I'm Sebastian Cid, I'm 24 years old, I'm from Chile and I've AMC. I know your group surfing in internet and I would like take contact with you for share experiences and know how people with AMC live in other country. Chile still isn't an inclusive country, but we are working for that.

I'll hope your answer.

Regards,
Sebastián

If you'd like to correspond with Sebastián please email Donna at donnadavis1985_tag@aol.com who will put you in touch.


 


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