A JOURNEY FROM RESEARCH TO DIAGNOSIS: ALEX’S STORY
The theme of Rare Disease Day 2018 is research. We asked Maria, mum to Alex, what taking part in research has meant for her family.
Who we are
Our small family consists of myself (Maria), my partner Steve, and our daughter, Alex, who is 11. Though Alex has always been an exceptionally happy child, we noticed from an early age that she was developing much more slowly than the other babies we knew, for example, when they were all crawling Alex still needed support to sit up. Every milestone was delayed. She didn’t start to walk until she was just over 2 years old. When Alex was about 18 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.
The route to a diagnosis
The paediatrician referred Alex for an MRI and various genetic tests before diagnosing her with a global developmental delay of unknown cause. She was further diagnosed with a sensory processing disorder, proprioceptive difficulties, speech and language difficulties, fine and gross motor difficulties, autistic type traits around behaviour and communication and, most recently, a cerebral visual impairment, though the underlying cause for these various conditions remained a mystery.
The DDD Project
When Alex was 5, our Paediatrician suggested that we enter the Deciphering Developmental Disorders (DDD) Project in order to try and get a diagnosis. The project aimed to apply state of the art molecular testing to 12,000 UK children with abnormal development using exome and whole genome sequencing. Out of curiosity, we agreed to be put forward. We already had the services in place which Alex needed, such as Speech and Language Therapy and Occupational Therapy, and so had no desperate desire at that stage to find out what was causing her complex issues. Saying that, I did feel that a definitive diagnosis might be of some use in retaining services when she was older.
We received a diagnosis from the DDD Project 3 years later when Alex was 8. 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 as we were already so far down the road. We had already fought for, and for the most part, secured the help that Alex needed without a diagnosis. I thought at the time that it would probably feel more important for parents with younger children. My only interest at that time was if there was any way of knowing how Alex could develop in the future. As it turns out, children who are affected by the DDX3X mutation have varying extremes of symptoms depending on whereabouts on the DNA string the mutation has occurred. This means that it’s impossible to track an individual path and predict the future. 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 severe to mild symptoms. After finding out about other families with DDX3X, I would say that Alex is on the mild to moderate end of the scale.
After receiving a diagnosis, I wanted to meet parents who had children with the same mutation in the UK. With advice from our geneticist, I decided to start a UK Facebook page to find them. I found an American group which I also joined (there are now more than 100 DDX3X families worldwide who are members of this large group). Now our UK Facebook page has 26 families and I’m starting a patient group with a couple of other parents with the support of Genetic Alliance UK, through their Building Rare Communities Project.
Finding out about rare and genetic conditions is fascinating and not something I’d ever considered before. The researchers at the DDD project allowed us to reach a diagnosis which I’ve come to realise is invaluable and well worth the wait. Though hopefully in the future, when this type of testing becomes standard on the NHS, parents won’t have to wait quite so long!
You can find out more about the Deciphering Developmental Disorders (DDD) Project here.
By Maria Poole.