Our family is small, just me (Maria), my partner (Steve) and our daughter (Alex). We live in Bristol. Alex is eleven and has a rare genetic mutation. She’s a jolly, affectionate girl who loves swimming, bouncing on her trampoline, music and dancing, making up stories with Small World characters, books and watching DVDs. Alex’s strengths are her happiness and desire to be around others. She enjoys opportunities to socialise, learn and play alongside other children, though pragmatic communication is difficult for her. She can find joy in most things, but is vulnerable, easily confused and struggles to cope with her complex needs every day.
Although she is usually a happy child, if her sensory processing needs aren’t managed she can experience overload which can manifest in violence.
Alex got into the system at an early age. We noticed that she was developing much more slowly than the other babies we knew, for example, they were all crawling while she still needed support to sit up. Every milestone was delayed. She didn’t start to walk until she was just over two years old. When she was about eighteen months old I took her to our GP and asked if I should be worried that she wasn’t talking yet when all the other children were. We were then referred on to the midwife who referred us to a paediatrician and then we were in!
The paediatrician referred us to Portage (a fantastic service) and also carried out an MRI and various genetic tests before diagnosing her with a global developmental delay of unknown cause. We were also then referred to physiotherapy, the orthotics Service, occupational therapy, speech and language therapy, the community learning disability nursing service and ophthalmology, so we certainly weren’t short of services in those early years. Alex was further diagnosed with a sensory processing disorder, proprioceptive difficulties, speech and language and fine and gross motor difficulties, autistic type traits around behaviour and communication and, most recently, a cerebral visual impairment.
As with all parents of disabled children we have faced many difficulties along the way and have had to fight tooth and nail to get Alex the services she needs, in and out of school. In our local authority children are often discharged from services like occupational therapy and speech and language therapy when they reach junior level. I guess a lack of staff and funding just doesn’t allow them to carry on. Because of this, for several years, I’ve been funding a private occupational therapist to go into Alex’s school for an hour a week to work with her. She’s a sensory specialist so I was very lucky to find her.
Our paediatrician suggested the Deciphering Developmental Disorders (DDD) Study to us when Alex was five. We said yes out of curiosity. We had no desperate desire at that stage to find out what was causing Alex’s complex issues but I felt that it might be of some use in retaining services when she was older. We were called by a genetic counsellor from the hospital who went through the process with us on the phone and asked us various questions about our family and history. We then went to see a geneticist at Bristol Children’s Hospital. She talked us through everything and then Alex went to have photos taken of various parts of her body. Then it was just a waiting game. We were told that we would find out within five years!
We received a diagnosis three years later when Alex was eight; she had a ‘de novo’ (spontaneous, not inherited) genetic mutation of the DDX3X gene. To be honest we’d just about given up on hearing anything by then and had mostly forgotten about it! Initially, when we first heard the results I didn’t feel that they had any significance for us personally as we were already so far down the road and had already fought for, and for the most part, put in place the help that Alex needed regardless of a pinpointed diagnosis. I thought that it would probably feel more important for parents with younger children. My only curiosity at first was if there was any possibility of knowing how Alex could develop in the future. As it turns out the children who are affected by the DDX3X mutation have varying extremes of symptoms depending on where abouts on the DNA string the mutation has occurred. This means that it’s impossible to track an individual path and predict the future. For example, some of the children have seizures and these can start from a young age or begin to occur when the child is a teenager, others not at all. Some children have no speech and there is a wide spectrum of intellectual disability. These are just a few examples of the differences which may occur. The DDX3X spectrum can range from mild to severe symptoms. I would say that Alex is on the mild to moderate end of that scale.
I was though curious to meet parents who had children with the same mutation in the UK and with advice from our geneticist I decided to start a UK Facebook group to find them. I found an American group which I also joined. I have since created a public UK Facebook page and it now has 26 families. I’m also starting a patient group with a couple of other parents and with the support of Genetic Alliance UK (the charity that runs SWAN UK) who are running the Building Rare Communities project, which I’ve been involved in. The DDD diagnosis has become so important to us as it has allowed us to create a supportive community. It’s also empowering to know that in the future we can help other parents through the maze we’ve already negotiated and that once we become more established we can encourage research into our children’s syndromes.
I would like to say that we did feel somewhat cut adrift after receiving Alex’s diagnosis via the DDD project. We saw our geneticist once at her clinic, and though she is happy to answer any queries which I might send to her (and is really helpful) there is currently no facility for multiple or yearly appointments to discuss any changes or new concerns. This is something that everyone in our Facebook group has mentioned. When your child has a rare condition, it feels that nobody is interested in it, or cares about it once they have been diagnosed. As most of the children have autistic traits, many of the parents try for that diagnosis simply to access help and support which is more readily available.
I now think that a diagnosis is invaluable and it’s worth the wait! What’s lacking is support in place post diagnosis.
I found SWAN UK during a Google search years ago and joined. The closed Facebook group has always been a source of interest and support. It’s also lovely that you don’t have to leave SWAN UK after you receive a diagnosis. You can become a ‘swan graduate’, and join their Facebook group. Once you have a diagnosis things are rarely cut and dry. A rare genetic condition can mean that the future can be just as uncertain after diagnosis as it was before, and that, as parents, your knowledge of your child’s rare condition is higher than the vast majority of medical professionals who haven’t even heard of it. SWAN UK understands this and remains a supportive presence post diagnosis. In the last year I’ve been to a SWAN UK organised undiagnosed genetic conditions information event and as a family we’ve been to a couple of stay and plays and even a trip to Longleat! It’s always good to know that other people are in your corner, understanding the day-to-day of life with an undiagnosed or rare condition.