Earlier this month I was very pleased to be able to represent Teddington Trust at the 1st UK Genetic Disorders Leadership Symposium. http://www.geneticdisordersuk.org/supportgroupsandcharities/geneticdisordersleadershipsymposium
This was a very inspiring session with a wonderful mixed agenda with an opportunity to learn from and hear experiences from other small charities and non-for profit groups operating for the benefit or various rare diseases. There were also some very interesting presentations from various medical and healthcare bodies.
I understand that the full audio and power point presentation will be available in due course, however in the meantime I thought it might be useful to feed back a few interesting links.
There was a very interesting presentation to kick start the event from the Clinical Lead for The 100,000 Genomes Project (England). This is a programme carrying out full genome sequencing with the view of achieving better diagnosis for rare genetic conditions and pioneering research. I was thrilled to see our own XP Clinical Geneticist’s photograph on the presentation in the Team Photo so wonderful to see XP featuring in this wonderful programme. If you are interested in reading a bit more check out the following link:
For those families with school age children who may be currently embroiled in the SEN process of statementing or Education, Health and Care Plans there was a very interesting presentation and you will be interested to learn that there is an independent helpline for special educational needs. SOS!SEN.
SOS!SEN offer free, friendly, independent and confidential support for parents and carers of children with special educational needs. You can contact the directly at the following:
020 8538 3731
Facebook SOS SEN, Twitter SOS_SEN
And for when matters cannot be resolved and further guidance is needed there are legal services out there who specialise in such matters. For ex. Maxwell Gillott, Helpline 0808 1293320, to name a few they can: advise on how to secure appropriate SEN provision, draft appeals and make representations at tribunals.
Lastly, there was a fascinating presentation from Professor Bobby Gaspar on the achievements of gene therapy to date and its potential for the future. There was nothing specific to XP, but it was generally hoping giving to see the current developments and we look forward to discussing this in clinic at Eddison’s next appointment.
We will try and capture these useful links on our webpage when we refresh it this month, but hope this helps in the meantime.