The COVID-19 pandemic has altered the lives of just about everyone, especially patients in receiving continued treatment and care. But what does it mean for patients who already have trouble accessing therapies or with finding and engaging with others like them?
The novel coronavirus, and the international response to the pandemic, pose significant and in many cases disproportionate threats to the rare disease community, given the vulnerability of those with chronic health conditions and the additional challenges being presented that affect their ability to weather this storm.
The rare disease community is one already facing significant challenges in obtaining early and accurate diagnoses and in accessing medicines and treatment, and their lives are all too often blighted by poor knowledge and understanding of their condition, leading to feelings of isolation and anxiety. They often have to navigate their way through unclear care pathways to obtain the support they and their families need; and now, with the additional threat of COVID- 19 on their health, the confusion and creeping isolation triggered by lockdown, and the stress placed on health systems, R&D and the pharma industry, the challenges appear more abundant than ever.
In the US, the National Organization for Rare Disorders (NORD)’s recently released COVID- 19 Community Survey Report reveals the far-reaching impact the pandemic is having on rare patients and families. 772 participants responded to the survey conducted by NORD’s research team from I April through 8 April, representing 49 of 50 states and Washington, DC across multiple disease categories.
The findings reflect a community directly affected and overwhelmingly concerned about the COVID-19 crisis. At 98%, almost all respondents were worried about COVID-19 and, it would appear, with due cause. Among the respondents, 95% said their families had been directly impacted due to COVID-19: 74% have had medical appointments cancelled; 59% had been offered a telephone or video call as an alternative to an in-person appointment; 69% were concerned about medication and medical supplies being in short supply; 29% had lost employment temporarily or permanently, and 11% of those job losses resulted in loss of health insurance too.
EURORDIS has released the preliminary findings of its first multi-country survey on how COVTD-19 is affecting people living with a rare disease, concluding that “the pandemic greatly hinders access to care”. They report that 5,000+ rare disease patients and their family members from all EU countries and beyond, representing 993 diseases, responded to the survey carried out via their Rare Barometer Programme. The preliminary results are based on survey responses submitted between 18 and 28 April and very similar themes emerge to those noted in the US.
EURORDIS reports that since the beginning of the COVID- 19 pandemic, nine in 10 rare disease patients have experienced interruptions of the care they receive for their condition and three in 10 perceive that these interruptions of care could definitely (one in 10) or probably (two in 10) be life-threatening. More than half of those awaiting surgery or transplants have seen these interventions cancelled or postponed and 80% have seen their appointments for rehabilitation therapies such as speech and physical therapies – sometimes the only therapies available when treatments are not – postponed or cancelled. Patients who usually receive care in hospitals are experiencing specific difficulties, with almost three in 10 reporting that the hospital or unit that normally provides care for their rare disease ls closed. Half of respondents had participated in online consultations or another form of telemedicine since the start of the pandemic; this is new for two in 10 patients. Almost nine in 10 of those utilising this type of consultation are happy with the experience and that it has been very or fairly helpful. In addition, the survey found that almost six in 10 reports they no longer have access to medical therapies such as infusions, chemotherapy and hormonal treatment at home or in hospital. More than 60% have lost access to diagnosis assessments such as blood or cardiac tests and medical imaging that arc often a vital part of their daily care. Close to seven in 10 have seen their appointments with the general practitioners or specialists cancelled, and almost six in 10 have seen their psychiatry follow-up interrupted.
Rare disease stakeholders from healthcare, patient advocacy groups and the pharma and regulatory industry from across the UK have been sharing their insights into disruption, risks and opportunities presented by COVID-19 in their sectors through a regular Zoom working group facilitated by Cambridge Rare Disease Network, Medics4RareDiseases and Rare Revolution Magazine. The group have identified a number of additional concerns for the rare disease community which will affect early diagnoses, access to research and treatments.
A member of the group flagged that there will be no appointments with clinical geneticists in many areas as these staff have been redeployed, whilst some genetic counsellors may have been doing some appointments by phone, but it is likely they could be redeployed too. It was also raised that face to face healthcare professional rare disease education has also ground to a halt, and this, alongside die lack of genetic testing, raises concerns that timely and accurate diagnosis of rare conditions is further impacted.
Members of the cross-sector group raised concerns about disruption to clinical trials and appraisal of rare disease treatments by NICE with patients in need of new treatment left waiting. At least nine rare disease treatment single technology appraisals and highly specialised technology evaluations are known to be delayed and a number of clinical trials of rare disease drugs on hold. For parents with children needing rapid solutions to degenerative diseases, these delays can mean the difference between life and death.
The rare disease community is familiar with isolation, issues with accessibility, and having to adapt so they are closely watching for opportunities arising from this crisis which may work to their advantage in the longer term. They’re largely welcoming the sudden, rapid uptake of telehealth which could mean less time and money wasted on travelling to appointments. They are watching with interest the adoption of health wearables and technology to monitor health in the home and hopeful that clinical trials may become more accessible if pharma companies adopt more virtual monitoring techniques in the future. They are also expectant that a rise in e-learning for health care professionals in bite-sized chunks will lead to a flurry of rare disease education packages and a more aware and knowledgeable community.
The Cambridge Rare Disease Network provides a window into the current experience of the rare disease community, and we catch up with three previous Pharmafocus contributors to see how the UK lockdown is affecting them.
Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p: a genetic arrangement that affects just 80 people worldwide.
Rebecca Pender portrait photo
Have you been able to access necessary medicines through your normal routes, or have you seen shortages or other difficulties during this time?
We’ve struggled with getting access to one particular drug: IV Ativan. We normally source through the local pharmacy or hospital pharmacy, but both have had issues in providing medicines. We’ve also had delays with Lamictal, but not as long as with IV Ativan. We’ve also had several diagnostic appointments cancelled with no indication of when they are
likely to be rescheduled. All our appointments have been conducted over the phone except the ones which were cancelled, but I feel these could have been telehealth appointments too.
How are you and Hannah coping with having to stay inside during the lockdown?
Being so isolated from our support network has been difficult, especially as we are shielding for Hannah. The change of routine has been the toughest on the kids, especially for Hannah as with her learning disability she doesn’t understand what’s going on. I am also 35 weeks pregnant, so it’s been so difficult being unable to share the journey with the family. When the lockdown came in, I was actually really glad that rare disease patients were included in the shielding group. It felt like a win as so often in the rare disease community we fight for visibility, and this time we were seen and protected from the outset.
Do you have any concerns about the treatment of rare disease patients during this period?
People in the rare disease community are rightly concerned that they are at the back of the queue for lifesaving and life-prolonging treatments. I’m also concerned at the amount of rare disease patients who are being bullied into signing ‘do not resuscitate’ documents, and how many are being refused lifesaving medications and equipment supplies because of apparent lack of stock. Because so much is unknown with COVID-19, but also unknown with rare diseases, it’s even more of an enigma as to how the two will interact. Our rare disease causes learning disabilities, not an acute illness, so it’s worrying that our rare disease could be used as an excuse to withhold treatment.
Vaila Morrison’s nine-year old daughter Eilidh (Ej) was born with the ultra-rare condition KAT6A.
Unique Feet go horseriding
Have you had difficulty in getting hold of any medications that Eilidh needs since the lockdown began in the UK?
EJ is currently taking a supplement to aid her metabolic function. It’s a drug that has to be prescribed via hospital rather than primary care through a GP, and strangely that’s meant it has – so far! – been easier to access during this time. Normally its a bit of a marathon of phone calls to get the prescription, check the pharmacy has it in stock and then make a trip to visit the hospital outpatient pharmacy. The last batch of three months’ worth was delivered by the hospital pharmacy to our door within 24 hours of calling the consultant’s secretary.
Self-isolation has been trying for everyone, but it must be doubly so for rare disease patients. What has been your experience?
EJ has profound learning disabilities and doesn’t understand the reasons behind staying at home at this time. She obviously misses her friends and the fantastic staff at her school, and is missing out on all the specialist equipment and activities. However, shes a very content and happy person so she’s not been fazed at all by spending more time at home. We are very lucky to have a garden so she can spend a lot of time outdoors to provide a bit of variation, as well as some fresh air and vitamin D. The main challenge for us is balancing the differing needs of everyone in the family. EJ is in the shielding category, and as it’s impossible for us to social distance within the household, that means we are all shielding together.
Have mobile health solutions helped you overcome some of the challenges of getting health advice?
EJ had an annual multi-team review at the beginning of the lockdown phase. This was able to go ahead via phone consultation with us at home and the paediatrician, school teacher,
school nurse and physio at school. This ended up being really useful as we could ask some COVID-19-specific questions about what category we should consider EJ to be in, and they were able to advise us of a SEND-specific helpline they were intending to implement to support families like ours.
Many rare disease patients must be in a similar situation right now. Have you been in touch with other patients or carers during this time? Has it helped to break the isolation?
We’ve been part of SWAN UK since before EJ was diagnosed. We’ve found it to be a fabulous support network for families with children with undiagnosed conditions. It’s mostly via an online forum as the network is national and we are all sprinkled across the country. This has meant the mechanism for staying in touch hasn’t had to adjust on the whole, as we are all used to chatting via a Facebook group. This has been a great source of info on how people are coping and accessing services. We are also members of a super local network of families. Unique Feet is a group for families of children with rare diseases run by the Cambridge Rare Disease Network (CamRARE) in Cambridgeshire. We do chat on line, but normally would be meeting up to do a variety of fun activities with the children. CamRARE has been brilliant at adjusting to circumstances and have set up zoom yoga sessions and sent out two activity bundles to the children, including postcards for the children to keep in contact with each other. Being able to chat with other parents, locally and nationally, has been so useful for questions about health, staying safe, access to care and also practical things like how people shielding manage to get shopping delivery slots!
I’m sure you share the same concerns as all of us for your personal health and of those close to us, but is there another level of anxiety for rare disease patients when it comes to catching the virus?
We are fortunate that EJ has never had a particular predisposition to chest infections; however, very little is actually known about her rare condition. There are only about 200 cases identified so far worldwide so it’s ultra-rare. Eilidh has had heart patch surgery in the past and there seems to be a metabolic element to her gene change, so there’s always a worry that we don’t know how her body will react to a new disease. The emergence of information about children being affected by inflammatory disease related to COVID-19 is a particular concern. There is a real concern that in the event of an overwhelmed system, any-one with certain age-related “frailties” or an “underlying health condition” is potentially going to be offered palliative care rather than active treatment.
This concern extends to those with learning disabilities. Despite a number of statements from the top level to say that learning disability should NOT be considered as a reason not to treat I can’t help but worry that there’s still an unconscious – sometimes conscious – prejudice against those who don’t fit the ‘normal healthy person’ bracket and an assumption about their quality of life. There’s been quite a number of worrying articles about ‘do not resuscitate’ orders being placed without loved ones’ knowledge; care homes for people with learning disabilities not having access to testing and PPE and figures recently reported by BBC Breakfast about the higher rate of death due to COVID-19 among those with learning disability. As EJ has profound and multiple learning disabilities (PMLD) as part of her genetic condition, its therefore of huge concern to me that if the system is overwhelmed, she might not get access to the same care as a typical child.
Based on your first-hand experience, what do you think needs to be done to address the needs of rare disease patients during this unprecedented time?
As at any time, the healthcare system needs to look beyond the average person and ‘the way we normally do things’ and strive to ensure patient-centred care. Listen to rare patients and their families, who often know as much, if not more, about their particular condition than any health professional. Work with us, and please don’t make assumptions!
Monday 20th January 2020 is not a particularly memorable date but for the rare disease community it could be.
On this day Kay Parkinson, supported as always by her husband John, presented their story for the last time.
This is a story of how a rare disease can affect a family and how it can change their world for ever. It has inspired so many people because it is all about love, about parents never giving up and despite personal tragedy continuing to make a positive difference so others should not have to suffer the same experience.
This story has been presented at many rare disease congresses over the years. One of the reasons it is so powerful, is simply because it completely resonates with so many people affected by a rare disease.
There are approximately 8,000 rare diseases. Only a minority have a successful treatment. A rare disease may affect thousands of people or may only affect one person. Collectively rare diseases are estimated to affect three million people in the United Kingdom alone.
There is so much work to do to raise awareness, to ensure successful diagnosis rates are vastly improved. The families and rare communities all hope that many more successful treatments are developed and that they are all accessible.
This work is happening and is growing, but so much more still needs to be done. Kay is simply an inspiration. This video is a tribute to her husband John, their children Matthew and Charlotte and ultimately to Kay, an amazing lady who has never given up and whose story through this video will hopefully continue to inspire for generations to come.
This video has been supported by Sobi and created by Bmore group.