Early in 2017, we were informed that the Deciphering Developmental Disorders (DDD) study may have identified the root cause of Adam’s condition. The DDD is a long term study which has analysed over 13,600 children with undiagnosed developmental disorders, using new techniques to examine their DNA and, where possible, the DNA of their parents. The study involves doctors across the UK and the Republic of Ireland and is jointly funded by the Wellcome Trust and the UK Department of Health.
Adam’s condition has been linked to a spontaneous mutation of the DYNC 1-H-1 gene. This gene is involved in the production of the protein denein which has many functions within the human body. Mutation of this gene has been linked both to forms of Spinal Muscular Atrophy and to autism. We will be meeting with one of the doctors involved in the study shortly to discuss the results in more detail.
In February, we were delighted to learn that Adam’s mother Rachel had been nominated in the Carer of the Year category at the inaugural Stars of Cornwall awards. The ceremony, organised and hosted by DC Media, was held at Cornwall’s iconic Eden Project in March. It was a splendid evening and, although Rachel did not win the award, she felt honoured to have been nominated.
On the subject of awards, Adam and Rachel were delighted in March to be asked to present Cornwall Services with the People’s Choice 2016 Changing Places Toilet of the Year Award. Cornwall Services, on the A30 at Roche, has an excellent Changes Places toilet but it was not only the facilities that prompted people from all over the country to vote for them, it was the attitude of the staff who proudly advertise the facilities and who are always on hand to provide assistance.
Adam and Rachel presented the Award to the manager of Cornwall Services, Alex Lawson, almost a year to the day since their original meeting at which the need for a Changing Places facility was discussed. Cornwall Services attitude and commitment continues to set the standard by which so many other organisations are judged and, more often than not. found wanting. Rachel’s campaign for provision of Changing Places toilets continues unabated, however. You can follow her efforts on her Blog, Ordinary Hopes.
Adam had a far more active Easter Holiday than usual, thanks to a local charity called CAAP (Cornwall Accessible Activities Program). The charity aims, amongst other things, to organise accessible activities in Cornwall during school holidays and this Easter arranged for the hire of a Mobiloo, a complete Changing Places toilet in a van.
Mobiloo is a Social Enterprise company based in Gloucestershire which hires out their vehicles to individuals and companies to ensure that no-one is excluded due to a lack of suitable toilet facilities. CAAP arranged to have the Mobiloo and its wonderful driver/assistant Matt, available for a day at Newquay Zoo, Perranporth Beach, Lappa Valley Steam Railway and Flambards Theme Park.
None of these attractions is currently accessible to Adam due to a lack of suitable toilet facilities, but the Mobiloo made it possible for him, his family and his friends to have several fun days out together.
Adam enjoyed all his activity days, but it was the trip to Perranporth Beach that proved to be particularly memorable for not only was the Mobiloo available, but so was Obama the Pony and his owner, Simon Mulholland. Simon runs Pony Axe S, providing pony powered all-terrain access for anyone who needs it. Adam was thrilled to go for a ride in the surf.
Both Mobiloo and Pony Axe S are available for hire – see their websites mobiloo.org.uk and ponyaxes.com for details.