2018 London DYRK1A Family Meetup Conference

On July 21st, we had another successful DYRK1A Family Meet Up Conference held in London, UK at the Marriott Hotel Twickenham. There were 14 families in attendance from across England and from Scotland, Germany, Denmark, Cyprus and Canada. Many more families from across the world were watching via the FB live feed into our closed FB page, including one in Australia.  The children enjoyed themselves with the two local clown entertainers who had kindly given up their time to support us! And everyone was very impressed with the handmade greeting cards that Frances Bush brought along to help raise funds to cover the days costs.  

Speakers

Dr. Muriel Holder, Clinical Geneticist at Guy’s Hospital

  • Presentation Slides
  • Video - Facebook Live - at 7:20
  • Dr Holder talked through the slides that can be viewed from the above link; and during the day she joined in group and individual discussions. One aspect that she has taken away to discuss and consider is the opportunity to hold an annual DYRK1A clinic in the UK (similar to the one in the Netherlands that Bregje Van Bon has started). She also encouraged UK families to take part in the imagine id study, which is assessing Genomic Impact on Neurodevelopment (www.imagine-id.org)

Amy Rush, Speech and Language Therapist Eg Training (Ltd); Oral Placement

  • Presentation Slides
  • Video - Facebook Live - at 43:20
  • Amy gave a great overview of the different Oral Placement therapy techniques (see copy slides linked above) and the services her organisation provides.  She brought along a range of products that our families were able to look at and talk to her about during the coffee break.  Amy also mentioned the ability to access Oral Placement therapy services via funding routes and an EHCP (Education & Health Care Plan) in the UK.

Lorna Bryan, The Challenging Behaviour Foundation

  • Presentation Slides
  • Video - Facebook Live - at 0:00 Beginning
  • Lorna gave a great talk about her experience and techniques to try in managing challenging behaviour and engaged us all in a discussion about the issues some families face and solutions they have tried.

Dr. Thomas Courtin, Guy’s Hospital; Neurodevelopmental Diseases

Janet Banks, Updates

  • Presentation Slides
  • Video - Facebook Live - at 43:20
  • Janet talked through the above slides which gives a brief overview of the members involved and progress made in establishing a DYRK1A Syndrome International Association.  She reminded everyone about the draft business plan that Amy Clugston had posted on the closed FB page for families to review and comment back on.  Janet Thompson volunteered to join the working group and help represent Canada.
  • DYRK1A UK Community received their charitable status
  • Janet gave a brief run through of key events over the year, including the speech conference that Linda Klindrup organised in Denmark (see below for further info); a social meet up that had taken place in Staffordshire, UK; an article from Amy Ginn, Evie's mum published in the Unique charities magazine; and Bregje Van Bon's announcement that she is starting to run DYRK1A specific clinics in the Netherlands.
  • Janet also presented to the group a copy of the draft poster that Neus Martinez had produced in conjunction with her colleagues at the University of Central Florida.  It depicted the results from the morphometric analysis they had undertaken after taking 3D photographs of many of our children at the US and UK meet up conferences last year.  We are unable to share the poster here until it has been finalised and published alongside a report in a scientific journal.
  • Views were sought in having a meet up in Gdansk, Poland next year and Janet committed to feeding back to the family planning to organise this.

Kerry Richmond, Discussion Session

  • Sleep Problems; it seemed a good opportunity to chat about concerns regarding sleep patterns and many people shared their experiences over the years and offered advice to consider, including acceptance of individuals different sleep patterns, pre sleep light issues, cranial osteopathy and medications.
  • Toileting Issues; some interesting discussions including use of medication to aid bladder control and about rectifying constipation issues before focussing on toileting problems.

Linda Klindrup, Karlstad Method

  • Presentation Slides
  • Video - Facebook Live - at 0.00 Beginning
  • Linda gave a great presentation of the communication journey she and Anders have been on over the last 12 years and a summary of some of the Karlstad Method principles.

Dr Swati Naik, a Consultant Clinical Geneticist at Birmingham Womens Hospital also attended on behalf of Dr Derek Lim.  Whilst not presenting she took questions and queries from parents during the afternoon.