Life in Lockdown: the impact of COVID-19 on rare disease families

BioNews asked me to write about the impact of the COVID-19 crisis on access to healthcare for my son Sam (six), who has an ultra-rare genetic condition, but his healthcare needs are so intertwined with the rest of our daily life, I've described that as well. 

Every family is facing challenges in these strange days; I'm not looking for sympathy or commendation, just explaining how the crisis is hitting families like ours.

The practicalities: tough, and restricted

Since lockdown began, none of our carers can visit Sam at home, so we are looking after him and his big sister – two very different children – for 24 hours a day, seven days a week. Normally they're both at school full time, and our carers come in one evening each week to let my husband and me have a break, or spend uninterrupted time with our daughter. My husband, while working from home, is still doing most of the cooking and spending time with the children between calls, but I spend my days spinning plates. Our daughter is a typical eight-year-old and wants a lot of interactive attention; Sam is non-verbal so often loses out, but takes priority when his body needs immediate attention (nappy changes, mealtimes etc). It's easy to feel that I'm failing them both simultaneously.

Sam has no respiratory weakness, but if he is unwell for any reason this can trigger his epilepsy and he can have significant seizures that in the worst-case scenario could be life threatening, so we are self-isolating. We're not leaving our garden more than a couple of times a week, for exercise; shopping gets delivered to the door and nobody comes in.  

All Sam's specialist support is normally delivered through his school, so it has all stopped as well (apart from a very welcome weekly phone call from his teacher). We are the only people around to provide the physiotherapy, occupational therapy, music therapy and intensive sensory sessions that are usually part of his curriculum. Some alternative provision is available online, but direct expertise is irreplaceable. For example, we've already had to adjust his walking frame to account for a growth spurt and only had advice on the phone to guide us.

Health appointments (including the dentist) have been cancelled and our next scheduled respite stay at the children's hospice is looking unlikely too. It seems likely that the impacts will be felt long after the lockdown period is over. 

Mental health: better than expected, but still fragile

Many families with special needs children were already used to having to quickly adjust to unexpected situations, such as emergency admissions to hospital. We've been coping with crises for years, so may be able to take them in our stride more effectively than people who usually have total control over what they do and when. Lockdown life feels comfortably predictable, as long as we can keep our bubble intact.

To some extent, lockdown is a leveller. I almost fear being left behind again when the restrictions are lifted and regular families can dash off to wherever they want to go; we will still be constrained by Sam's health needs. For example our holidays are always planned in terms of the proximity to emergency ambulance services and the strength of the mobile phone signal, just in case he has a big seizure while we're away.

However, early news reports about potential restrictions in treatment for COVID-19 patients with pre-existing disabilities were alarming additional burdens to carry. Social media's ability to amplify and distort news can hit rare disease families hard, and the extra effort required to revisit the sources and separate fact from fiction is sometimes too much on top of gruelling carer duties. 

Many friends have been deeply worried that their severely disabled children could miss out on life-saving treatments in a gruesome competition for scarce resources. NHS guidance is now clearer that patients with underlying disabilities must be assessed individually, but the fear that disabled people might somehow be deemed 'less worthy' of care when this is in short supply continues to reverberate.  

Impact on research

Understandably, research into non-COVID-19 matters is stalling all over the world. This seems set to slow down rare disease discoveries, and work on developing new treatments and cures, by at least a year. 

We're part of the CureGRIN Foundation, a global patient-led research network for patients like Sam with GRIN gene disorders. Our main research studies are continuing to recruit patients but our second aim, of reaching out to paediatric neurologists around the world to raise awareness and invite them to participate, is going to prove more challenging than anticipated because this just won't be a priority for them. Our annual conference, where we connect with families and researchers around the world, has been postponed for six months, and our ability to raise additional funding to develop treatments will be hit hard. 

There are tough times ahead. But we have to keep fighting. 

Jillian Hastings Ward is a patient advocate and rare disease parent. She is Chair of the Participant Panel for Genomics England, and a Board member of the CureGRIN Foundation. She is writing here in a personal capacity.