Clare shares her story of receiving her son's diagnosis just before lockdown
Our darling Arthur is soon to be 10. We have been involved in research studies since he was three to try and identify the reason for his many difficulties, but I somehow never expected to get a diagnosis. I think, in part, as early on in our journey we saw a neurology consultant who informed us that for 60% of children with learning disabilities the diagnosis or cause is unknown. We were shocked at the time but then I used to be a nurse so I know how amazing and intricately made our human bodies are, so although a shock it also seemed logical. Scientists and doctors still have so much to learn about our bodies so, for me, entering research studies was more about helping doctors learn for the future.
Our son’s diagnosis came out of the blue. We thought we were just attending a routine genetic consultant follow-up appointment. I had been chasing an appointment. Almost two years earlier we had had a call from the genetic consultant saying there were no findings for Arthur in the 100,000 Genomes Project (a study looking at panels of the genome – DNA – depending on symptoms). However, the genetic consultant wanted a review in her clinic to update herself on Arthur’s difficulties. Thankfully Arthur’s dad was at the appointment with me. This isn’t always the case, purely because Arthur has so many hospital appointments. Although very hands on in caring for our boys, he does have to work!
What we learnt is that Arthur has a mitochondrial disorder (NDUFA1). All the cells of the body contain mitochondria. They are essentially the battery of the cell, providing energy for cells to function. This gene change that is causing Arthur’s difficulties is located on the X chromosome, so was inherited from me, his mum. However, the change in gene has perhaps only occurred in me as my sister’s children are neuro-typical. This is a hard thing for anyone to process. My cells have caused all my son’s difficulties! This includes severe learning disabilities and lots of medical issues that have led to distress/ pain/ investigations and major operations. Logically I know this was not in my control but I admit it has caused me some heartache. A mitochondrial disorder is without a doubt the right diagnosis for the mish mash of problems Arthur has. So much fits but being told this news at the start of a Covid-19 pandemic is tricky. We need to see a metabolic specialist and Arthur needs to have further tests to see if a specific mitochondrial disorder can be identified. However although a referral has been made, normal time constraints don’t concur in a time of pandemic.
We are therefore left in limbo, knowing some but not all the information surrounding Arthur’s diagnosis. This has two sides to it. Is beginning to understand Arthur’s condition helpful or would we be better not knowing until we can gain fuller information? Will that information ever come or will Arthur have such a rare mitochondrial disorder that full information is never known? In many ways it feels like a conundrum with perhaps no right or wrong answer. For now we have to try to put this diagnosis to the back of our minds and continue to live each day as it comes. Arthur is medically vulnerable due to severe asthma but also now due to this new diagnosis. For now our world is our house and garden. We have to take each day as it comes and take joy where we can. At some point we will know more about Arthur’s condition, but for now we have to be patient.