I am a genomic scientist and have spent more than 26 years working with the human genome on the Wellcome Genome Campus near Cambridge, UK. Currently, I work at Congenica, a digital health company, also situated on the Wellcome Genome Campus, that investigates the genomic causes of rare diseases. As such, I have a deep belief in the power of genomic medicine and the hope that it holds for people with rare diseases. If you can get a genetic diagnosis for your disorder, it may inform how it might progress, whether it might happen again in another child, as well as facilitating access to services. It may also inform treatment, relieve parental guilt because it makes you realise that there is nothing you have done as a parent that has caused your child’s challenges, and in time, inform gene-specific therapy. 

I am also the father of two children who are severely disabled. My daughter is eight years old. She was born at 30 weeks and suffered severe brain damage during birth. She has Gross Motor Function Classification System (GMFCS) grade 4 cerebral palsy (CP), which means she is unable to walk or even stand on her own. She has had to undergo extensive hip surgery to prevent the heads of her femur bones from dislocating. She also had West syndrome when she was eight months old, a catastrophic and potentially fatal form of epilepsy that resulted in severe developmental regression. It was initially misdiagnosed as reflux by our GP, a common mistake when dealing with such rare epilepsies. However, we realised very quickly that she was extremely ill and took her to accident and emergency at Addenbrooke’s hospital in Cambridge. We were extremely lucky that the consultant paediatric neurologist, who saw her was actively involved in a clinical trial for West syndrome. The medication given to her worked, stopping her seizures within 24 hours and allowed her to begin to develop again. We were enrolled into the UK 100,000 Genomes Project, a world-leading study that is investigating how our genomes can be responsible for such devastating disorders, to help us look for answers to her condition.

We received our 100,000 Genomes Project result on the day of the 12-week scan for our son. The result came back negative, which was disappointing. It was a relief to know that it was not one of the genetic disorders that clinicians already know about, but we were still left not knowing why our daughter has such challenges. Sixteen weeks later, our son was born at 28 weeks and spent two months in a neonatal intensive care unit. After two months, we were given the devastating news that he had suffered severe brain damage at birth. Unfortunately, it takes around two months for brain damage to show up on the ultrasound scan. Clinicians think that our son may have the same, or possibly worse, level of cerebral palsy as our daughter. However, he is still very little so only time will tell how badly he will be affected. Consequently, our son, too, had his genome sequenced, but again, nothing was found to explain his challenges. It is astonishing how similar both of our children’s births were and how similar their brain damage is. As such, I am convinced that there is an underlying genetic cause. Maybe we will find something with future technologies that can look even deeper into our genomes for answers that can’t be resolved now.

Life, as you may imagine, has taken a great deal of getting used to and we have a team of healthcare workers and supporters who make our life more bearable and more manageable, while our daughter’s school provides relief during the day. Our circumstances have meant that my wife has given up work to become a full-time carer. Our clinical care, therapists and equipment are provided by a local child development centre, who have been outstanding. We know we are very lucky, because friends in neighbouring counties receive nowhere near the amount of equipment and support that we do and I am baffled by the lack of equitable access across the country.

However, other areas of support have required a huge fight, such as getting the Education, Health and Care plan for our daughter. She has still not received her updated version for last year. This has been incredibly frustrating and has required a lot of mental strength to remain calm at times. We’ve found that by making a nuisance of ourselves, people appear to want to get rid of us as quickly as possible, which gets results. Such action should never be necessary. Furthermore, when both children were born and in intensive care, maternity and paternity leave started for my wife and me, which meant that a considerable amount of it was spent being without our children. Perhaps the government could consider allowing parents of children who need to go into intensive care have the option to go on statutory sick pay, starting parental leave only when the family gets home?

Since the covid-19 pandemic, suddenly all the support we were getting has stopped, such as our children’s physiotherapy, occupational therapy and speech and language appointments. Our physiotherapist phones us every week to see how we are. If necessary, we can go and see them, or they can come and visit. But it is not the same as before because the healthcare workers have to wear personal protective equipment, which is frightening for the children. If we have questions about our equipment, such as the children’s standing frames, or our daughter’s splints—which now fit so poorly that they hurt her—we can send our physiotherapist pictures to see if they can then advise us how to make adjustments. However, this is very different to having the physiotherapist there with hands-on intervention for our children’s spasticity. Furthermore, our family social time, which is always centered around activities that are fun, but also therapeutic, such as swimming and horse riding, as well as the specialist therapy lessons they have both benefited from, have stopped.

Our daughter goes to a wonderfully inclusive mainstream school, where she could not have been made more welcome—a great reflection on the head teacher and his beliefs. However, during lockdown, while she could continue to attend as a “vulnerable” child, we chose to home-school her for the following reasons. She requires “routine” or she can become uncontrollably upset and the lockdown schooling situation did not provide this. She would not be in her own classroom; all year groups are in the same classroom together and she would not have her specialist teachers and support staff to look after her. This also means that she would not be able to transfer from her power chair, to her specialist seating, to her standing frame and then access the loo at numerous times of the day, because she needs the staff who have had manual handling training. This is not a criticism of her school at all, rather the limited state resources.

Some schools began to reopen before the summer holidays, but for our daughter, this was not a realistic option. If teachers are not allowed to sit next to their pupils, how can they help disabled children? For example, our daughter needs hands-on help with classwork, washing her hands, using the loo etc and that is assuming her one-to-one teaching assistant is back at school, which is not guaranteed. She needs close personal contact and would most certainly learn better at home for the time-being, putting further stress on homelife. We have always had to do everything for our children because they are so restricted by their cerebral palsy, so we are not just mum and dad, but also our children’s therapists. Now, however, we have to do all of this, but without any external support, with the additional difficulty of learning how to be teachers and teaching assistants. To add to the strain, our son wakes at least two to three times most nights for prolonged periods, possibly from pain due to his cerebral palsy or possibly due to “night terrors”, which is exhausting for my wife and me. Unfortunately, even before lockdown, we were told by our local authority that our situation was not severe enough to qualify for respite care, despite us not even having had the courtesy of a proper assessment.

We have had outstanding care from the NHS, for which we are very grateful. But at this moment in time, there is a real worry that, while the NHS has been overwhelmed and the world is looking for a vaccine for coronavirus, care providers are overlooking vulnerable people who will still remain vulnerable after the pandemic. Furthermore, in the context of coronavirus, the use of the clinical frailty score initially implied that, where there is a scarcity of equipment, people who have mental and physical disabilities could be overlooked in favour of those who do not. Despite some clarification from NICE, this still fills me with fear for how the clinical frailty score could be applied to my children.

Charles Steward is the Patient Advocacy and Engagement lead at Congenica. Note, the views expressed here are his alone and do not reflect the views of his employer.

Competing interests: Charles Steward is employed by Congenica Ltd and he also sits on the Participant Panel at Genomics England. He is also a governor at his children’s daughter’s school.

Patient consent obtained.