Report by Clare Millington
In April, 9 families met for the first time. We all had a child with the DDX3X diagnosis but many of us were still struggling with what to make of the condition. The first and only paper on the condition was only published in 2015, so very little is known about it. Here’s what happened when the 9 families got together to work out what it was all about at the FIRST EVER DDX3X SUPPORT UK family meet up.
We were all quite nervous and excited about the meet up. Luckily I had stayed at Bendrigg Lodge before and knew that they would cope with everybody’s needs, however complex. I felt an immense respect for those travelling hundreds of miles with their children to see how we can support each other and at the same time give our children a trip away full of thrills and enjoyment. We had taken over Acorn house, a very swish new building next door to the main Lodge, with profiling beds, large wet rooms and a beautiful lounge overlooking the Cumbrian fells. We were over subscribed so were a bit packed in when we met up for our first lunch and tried to have a chat together. Siblings rapidly got to know other brothers and sisters and parents were introduced.
One of the traits of DDX3X soon became evident. Many of our children have auditory defensiveness and struggle with loud, busy spaces. Some block out the noise by making noises themselves. The dining room was quite echoing and there were tears and escapes from the room. We muddled through though, with some eating in the lounge and others taking a plate outside or back to their rooms. Something to think about for next time! Acceptance and support during a few unexpected outbursts from our children was actually one of the strengths of being together.
The main aim of our break was to get to know each other and get an idea of the main barriers all those with DDX3X face in everyday life. We broke into 3 groups with an instructor to keep the kids entertained with fully inclusive outdoor activities. We tried indoor caving, archery and zip wiring, with frequent teas and coffees in between. If it was all too much, as it often can be for our children, we could wander in the beautiful grounds or have some time out in our rooms as all the activities were on site and we could bob in and out. By tea time everyone had participated in an adventure activity even if it meant being strapped to your Mum or Dad to go down the zip wire. The gentle encouragement and help from the instructors was amazing. Many parents admitted that the lack of danger awareness that comes with DDX3X and the impulsiveness of the children means challenging activities are usually not even considered an option for them. The ‘can do’ attitude of Bendrigg staff meant we were seeing a new side to our children. They loved the sensory ‘rush’ of the zip wire.
After another fairly hectic meal we headed to the sports hall for some parachute games to help us get to know each other a little better. There was a regular flow between here and the sensory room where parents and children could relax with lights and music. This was a favourite with many, although some couldn’t get enough of the experience of a parachute whooshing up and down over their heads.
When all the children were finally in bed we could get down to the serious business of telling our stories over a few glasses of Prosecco. For most it had been a long journey to the DDX3X diagnosis, some being given a diagnosis of cerebral palsy, autism or epilepsy along the way. No one had an identical set of problems to deal with and many were unsure what was attributable to the DDX3X mutation. We looked for common ground. Every child with the DDX3X condition was struggling with communication and sensory integration difficulties. Some children talked, some signed and some had communication aids. All were very keen to get their message across but parents had very different stories to tell in terms of what services they had been offered and some complained of a lack of aspiration for their children, who clearly want to tell us more.
The second day dawned and the relaxation of having Acorn house to ourselves meant breakfast was a relaxed affair, starting very early for some! We headed off in different groups: to the lake for canoeing, to the climbing wall or for more of the old favourite – zip lining. Since the sensory room had been such a hit, Bendrigg kindly opened that again too. Despite dire predictions by some, no one jumped in the lake and thanks to Bendrigg’s clever assistive ‘crane’ everybody who wanted to got up to the top of the climbing wall. We were all feeling intensely proud of our children.
Those parents with enough energy left got together in the evening to chat a little more about what else can come along with the DDX3X condition. With precious little information out there the parents really are the only source of expertise in the whole condition. Many had tagged along to other support groups where they didn’t quite fit. We discussed the digestive system, mobility, hormones, vision, circulation and seizures. We commiserated with each other over the long treks to many different hospital departments and how we had to explain everything over and over again, as most professionals do not know what the DDX3X condition is. We vowed that awareness raising should be a key aim for the group.
In one thing we were united: our kids are a plucky bunch, full of surprises and worth getting the very best of services for. With a rare condition, needs are often overlooked. Several of us had only recently discovered that our children had major visual impairments as the lack of communication and other difficulties had made a proper eye investigation very difficult. If this can be caught earlier, as a known part of the condition, therapies can be put in place and have a huge knock on effect for the child’s education.
We departed on Thursday lunchtime to the four corners of the country, exhausted and wiser, with new friends and a greater sense of what that shared gene means for our children.
Many thanks to the Bendrigg team, Scottish Power who helped them part fund our stay, Genetic Alliance UK, Trefoil and all Pip’s sponsors for her ‘Climb the height of the Eiger’ challenge.
Some quotes from the parents:
‘I try to wrap her up in cotton wool….she has no sense of danger…..I now know there is a determined adventurous little girl in there dying to get out.’ Keri
‘Such a non-judgemental and friendly environment. Looking forward to the next one.’ Sam
‘ I’ve never felt so at home as I did here with you guys. I felt my little family fitted in for the first time.’ Sonia
‘Hope to see you all again soon plus more of our DDX3X family.’ Steve