At the end of January this year, my daughter Hannah and I boarded a train to London and spent a wonderful few days at the launch of the I am Number 17 campaign. Our first solo trip together was, for the majority, a success. It was my first time travelling alone with a disabled child and all the paraphernalia we needed to lug with us. I was also 18 weeks pregnant with my 4th child and COVID-19 was just starting to make headlines with only a handful of cases in London. Barely a threat.
As stressful as the trip felt, Hannah did her usual routine and charmed every last person she came across, from train conductors to taxi drivers, and it felt amazing to connect with the other changemakers, meeting both new faces and familiar friends we knew from before we agreed to become changemakers. We came home exhausted but feeling very rejuvenated and topped it off with meeting two of our wonderful 8p families while we were there.
Hannah is almost 8 years old and we’ve been members of the Rare community since she got her diagnosis of Inv Dup Del 8p a little over 6 years ago. So rare it doesn’t yet have an eponymous name. She has both deleted and duplicated genetic material on the short arm of Chromosome 8, or as we call them in our house, Wonky Genes.
I realised rather early in our rare journey that I needed to become more than just Hannah’s mother. I needed to become an advocate, her champion, a squeaky wheel.
I needed to understand genetics, understand neurology, and become an expert in not only her condition, but also her individual presentation of that condition. We learned quickly that when you only have 80 people worldwide (source : www.rarechromo.org) that many health professionals have never heard of the condition, let alone treated anyone with it. So, we joined a Facebook group and found our 8p family.
For 5 years we got to know our new community in all corners of the globe. Online and through video calling, we began to weave a rich tapestry of connection and both supported, and got supported by, other parents and caregivers of children just like Hannah. One such mother, Bina Shah from Manhattan took on the almighty task of recruiting Columbia University and commissioned a research study now called Project 8p (www.project8p.org). In June 2019, Hannah, her father, and I boarded a plane to New York to the first ever 8p conference and family meet up, and finally we got to meet and hug all those families we had known virtually for the majority of Hannah’s life. It was informative, emotional, and we came home with a renewed sense of drive to make our mark in the rare disease community and fight for acknowledgement and understanding of what it means to Live and Love Rare.
One area I’ve always been passionate and outspoken about is the need for co-production between rare patients and their health professional teams.
The greatest asset that our medical and pharmaceutical colleagues have in supporting those living with rare conditions is the patients and families themselves.
Doctors and medical staff polished by their profession can only effectively treat and support people when they listen and engage with those who are experts by experience and necessity.
Opportunity for advocacy and public speaking came to a screeching halt, along with leaving your house for anything other than shopping, when Lockdown happened in March. By then I was 6 months pregnant and faced the prospect of a very long summer at home with 3, soon to be 4, children. We settled quickly in to a new, very strange routine of staying at home. We were jolted back to reality when in early April a letter dropped through the door, advising us what we already knew deep down. Hannah was on the vulnerable list and therefore had been added to the shielding database. For something we knew, it was tough to see it in black and white.
It was probably best that the schools had shut as Hannah had the most difficult 6 months of her life throughout lockdown, as her Epilepsy spiralled out of control. It was during this time that we spent the most amount of time liaising with her neurology team and epilepsy nurse along with a few trips to Accident and Emergency for head injuries and broken adult teeth sustained during seizures – not really the place you want to be during a pandemic. Sometimes, daily phone calls tweaking care plans and medications to find the best balance for her. Working together to ensure she was safe and stable. However, I have to say I think I felt safer in the hospital during these crazy times than I ever did before. Extra cleaning procedures and sequestering of shielding patients meant that as soon as we arrived, we were ushered into our own room and seen quickly. Emergency rooms were quieter as most people stayed at home unless it was an absolute emergency, and we were able to access blood tests and EEG’s on the same day they were requested, as the system was no longer bottlenecked. Our neurology consultations were done remotely meaning that I could find a quiet room alone and discuss Hannah with her team, without having to entertain her in a clinic room while trying to also hold a conversation with several adults. As her condition deteriorated this year, we needed several referrals to OT and other specialisms, including a new wheelchair, and all these were done swiftly and she got what she desperately needed without a battle. This was much relief to this mother who had grown weary of constantly battling “the system” and its red tape. Subsequently, the care Hannah has received throughout this year has far exceeded anything we have experienced before. Do I think it’s COVID-19 related? Absolutely – I just hope not to the detriment of others also waiting for routine treatment.
Before COVID-19 took hold, in some ways our healthcare system has been very rigid. Things are done in a certain way, within certain guidelines on a certain timeframe.
The global pandemic has grabbed rigidness by the neck and given it a good shake. It has forced flexibility on organisations to re-think the way they do things and, more importantly, listened to its service users to find out what works for them.
It has forced conversations to change and made reasonable and necessary adjustments to policies, now a hurdle that can be navigated as opposed to an insurmountable wall. Something the rare and disabled communities have been begging for, for years. I’ve lost count of the number of polls and research questionnaires I’ve seen asking for peoples experience during this year. Perhaps they look a little different to our positive experience. However, herein lies the rub – we have two options as the world enters the “new normal”.
We can go back to the way things were – rigid, inflexible, inaccessible and systemic. Or we can throw open the doors and engage with patients in a way that suits them.
We can take their feedback on board and work together for preferential outcomes and have a true level of co-production, as opposed to a tokenistic online poll where the results are never acted upon. We can engage with multi-disciplinary medical teams working together via online platforms, regardless of location, to come together and plan for what’s best where the patient is central to the conversation. We know it can work because we were forced into it by circumstances out of our control – no different to someone diagnosed with a rare condition.
The way 2020 unrolled wasn’t in the plans we all had in the new year – we adapted, cried a little (or a lot), we found new ways of making things work for us and got a taste of what it’s like to be isolated and unable to control our daily lives – no different to someone diagnosed with a rare condition.
So, this is my rallying call as a parent of a disabled child with a rare condition – we cannot go back. We cannot allow the fresh slate in front of us to be filled with the mistakes of the past. We have to opportunity to re-shape our healthcare system in a patient-centred way and allow co-production to become the new normal. Let’s not waste our chance. In every cloud there is a silver lining, let this be the opportunity that arises from possibly the craziest year in the history books. We can do it, but we all need to play our part and be advocates and squeaky wheels.