How Covid-19 rocked rare disease communities

The prime minister’s mes­sage to the UK on 23 March 2020 was clear: stay home, pro­tect the NHS, save lives. Most of us will nev­er for­get the moment the coun­try locked down to fight the spread of Covid-19. But although the rules were the same for every­one, lock­down affect­ed some peo­ple more neg­a­tive­ly than oth­ers. 

Aman­da Mortensen from Brighton was ter­ri­fied her teenage daugh­ter Livvy would catch Covid-19. Livvy has Phe­lan-McDer­mid syn­drome, a rare ill­ness that caus­es mul­ti­ple dai­ly seizures. At the start of the cri­sis, the near­by care cen­tre that Livvy attend­ed five days a week had to close. For sev­er­al months, Mortensen and her hus­band pro­vid­ed all of Livvy’s care, while both work­ing full time. 

“It was quite intense,” she says. “We weren’t leav­ing the house, we weren’t going to the shops. We iso­lat­ed our­selves com­plete­ly.”

Rare dis­eases – con­di­tions that affect few­er than one in 2,000 peo­ple – are more com­mon than most peo­ple realise. Col­lec­tive­ly, approx­i­mate­ly 3.5 mil­lion peo­ple in the UK live with a rare con­di­tion, from well-known ill­ness­es like cys­tic fibro­sis and Huntington’s to ultra-rare dis­or­ders such as glyco­gen stor­age dis­eases. As each con­di­tion is indi­vid­u­al­ly rare, this large pop­u­la­tion is often over­looked, even in bet­ter times.

Rare dis­ease patients and their fam­i­lies con­sis­tent­ly report sig­nif­i­cant care inad­e­qua­cies, unmet clin­i­cal needs, and feel­ing ‘left in the dark’ about their con­di­tion. These chal­lenges inten­si­fied at the height of the pan­dem­ic as it became more dif­fi­cult to access the usu­al health and care sup­port.

“We were all in the same metaphor­i­cal storm, but we were not all in the same boat,” says Dr Gem­ma Chan­dratil­lake, chair-elect of The British Soci­ety for Genet­ic Med­i­cine and edu­ca­tion and train­ing lead for the East Mid­lands and East of Eng­land NHS Genom­ic Lab­o­ra­to­ry Hub.

In some ways, the wider pop­u­la­tion got a taste of what it feels like to expe­ri­ence a rare con­di­tion at the start of the pan­dem­ic. Sud­den­ly every­one had to iso­late them­selves, con­duct a risk assess­ment before even the most banal activ­i­ty, and deal with the uncer­tain­ty of poten­tial­ly catch­ing a lit­tle-under­stood ill­ness for which there was then no treat­ment or vac­cine. 

But while most peo­ple have been able to enjoy a return to nor­mal­i­ty as lock­down rules eased, some rare dis­ease patients are liv­ing with the long-term effects of the dis­rup­tion caused by Covid-19. These range from diag­nos­tic delays to reduced clin­i­cal ser­vices, says Mortensen, who’s also chief exec­u­tive of the Bat­ten Dis­ease Fam­i­ly Asso­ci­a­tion (BDFA), a char­i­ty offer­ing guid­ance to fam­i­lies affect­ed by Bat­ten dis­ease, a group of rare neu­rode­gen­er­a­tive dis­eases.

Pandemic delays to rare diseases treatment

Obtain­ing a fast and accu­rate diag­no­sis can be chal­leng­ing for some­body with a rare dis­ease, even when the NHS isn’t in dan­ger of being over­whelmed. In the UK, patients can expect to wait sev­er­al years for the right ver­dict and often receive sev­er­al mis­di­ag­noses along their jour­ney. It is such a mis­sion that many rare dis­ease patients call the ardu­ous process a ‘diag­nos­tic odyssey’. 

Livvy is now 20. She only received her diag­no­sis of Phe­lan-McDer­mid syn­drome at the end of last year after par­tic­i­pat­ing in the 100,000 Genome Project, an ini­tia­tive launched in 2012 to sequence 100,000 whole genomes from NHS patients with rare dis­eases or can­cer. Such delayed diag­no­sis is frus­trat­ing, but it can also have seri­ous con­se­quences. Delayed diag­no­sis is linked to few­er treat­ment options, wors­en­ing ill­ness and reduced life expectan­cy. 

Ear­li­er in the pan­dem­ic, diag­nos­tic rates for rare dis­eases slowed because of reduced access to health ser­vices, sug­gests the Mak­ing the Unseen Seen report from advo­ca­cy organ­i­sa­tion Action for Rare Dis­ease Empow­er­ment (ARDEnt). For fam­i­lies deal­ing with a mys­tery con­di­tion, the first port of call is usu­al­ly their GP. But pri­ma­ry care appoint­ments fell from 6,026,140 in the first week of March 2020 to 4,225,502 in the last week of the same month, accord­ing to NHS data. 

As we’ve learned with Covid, if there’s a will there’s a way. We’ll see in the next few years if there’s a will when it comes to rare dis­eases

The appoint­ments that did take place were large­ly con­duct­ed by tele­phone and video con­sul­ta­tion, which aren’t always suit­able for spot­ting indi­ca­tors of cer­tain rare con­di­tions, such as der­ma­to­log­i­cal dis­eases. Refer­rals to spe­cial­ists – who per­form the tests to con­firm a diag­no­sis of a rare con­di­tion – were also neg­a­tive­ly impact­ed by the pan­dem­ic. In some areas of the UK, GP refer­rals to spe­cial­ist ser­vices fell by more than half dur­ing April to June 2020, the ARDEnt report sug­gests. 

Even rare dis­ease patients who had received an accu­rate diag­no­sis for their con­di­tion by March 2020 still faced sig­nif­i­cant chal­lenges dur­ing Covid-19. Many of the spe­cial­ist NHS medics who usu­al­ly looked after rare dis­ease patients were rede­ployed to Covid wards. A sur­vey by Rare Dis­ease Europe (EURORDIS) found 83% of patients expe­ri­enced delays and can­cel­la­tions to health­care appoint­ments dur­ing the first wave of the cri­sis. The find­ings also sug­gest that pan­dem­ic-induced paus­es in treat­ment might have led to severe dete­ri­o­ra­tion for some patients. Three in ten indi­vid­u­als who expe­ri­enced dis­rup­tion to their care report­ed that it was ‘def­i­nite­ly’ or ‘prob­a­bly’ life-threat­en­ing.

Ser­vices that many patients see as vital to man­age their con­di­tions, such as speech ther­a­py and phys­io­ther­a­py, were con­sid­ered ‘non-essen­tial’ dur­ing the lock­down and were forced to shut their doors. Restrict­ed access to sup­port has often led to fam­i­ly mem­bers tak­ing a much greater role in their loved one’s care, says Pro­fes­sor Amy-Jayne McK­night, a mol­e­c­u­lar epi­demi­ol­o­gist at Queen’s Uni­ver­si­ty Belfast. “Par­ents were left on their own with no access to sup­port.”

Feel­ing shut out of health and care sys­tems and faced with con­fus­ing guid­ance about pro­tect­ing vul­ner­a­ble peo­ple dur­ing the cri­sis, patients and their fam­i­lies often turned to small char­i­ties for advice. These often serve the needs of spe­cif­ic rare dis­ease com­mu­ni­ties. How­ev­er, they also faced con­sid­er­able pres­sure stem­ming from the pan­dem­ic.

Many non-prof­it organ­i­sa­tions are staffed by vol­un­teers (often them­selves affect­ed by a rare dis­ease) who had to jug­gle work, home­school­ing and greater care respon­si­bil­i­ties, leav­ing them with few­er resources to respond to patient con­cerns. As few fundrais­ing events could take place dur­ing the first lock­down, 38% of med­ical research char­i­ties report­ed a loss in income dur­ing March-May 2020.

Rare disease patient fears

The men­tal health impact of Covid-19 on rare dis­ease com­mu­ni­ties has also been con­sid­er­able, says Dr Rick Thomp­son, CEO of rare dis­ease char­i­ty Find­acure. Some vul­ner­a­ble patients were so wor­ried about catch­ing a dead­ly virus that they didn’t seek med­ical help when it was need­ed. Oth­ers avoid­ed trips to the super­mar­ket or even going out­side. 

“Many patients were far more scared about catch­ing Covid than oth­er peo­ple giv­en the poten­tial addi­tion­al com­pli­ca­tions and that’s led to increased iso­la­tion in an already iso­lat­ed pop­u­la­tion,” says Thomp­son.

Can­celled clin­i­cal research dashed the hopes of some rare dis­ease patients. World­wide, over 2,500 tri­als were ter­mi­nat­ed or sus­pend­ed between the end of 2019 and May 2020. Stud­ies that had been years in the mak­ing were abrupt­ly halt­ed as research fund­ing was repur­posed to fight the Covid cri­sis and many tri­al clin­i­cians called to the front­line. 

Many rare dis­ease patients were far more scared about catch­ing Covid than oth­er peo­ple

Clin­i­cal tri­als are some­times the only hope of devel­op­ing a treat­ment for patients with ultra-rare dis­eases, so it’s heart­break­ing when they’re shut down, says Chan­dratil­lake. 

“For par­tic­u­lar rare dis­eases, there might be a clin­i­cal tri­al that’s tak­en years to get togeth­er. And then overnight, it’s just gone.” In 2020, inves­ti­ga­tors ter­mi­nat­ed the only clin­i­cal tri­al of a treat­ment for Alström syn­drome (AS) due to the con­straints of the pan­dem­ic. The ultra-rare dis­ease caus­es heart prob­lems and pro­gres­sive loss of vision and hear­ing. There is cur­rent­ly no approved treat­ment. 

Learning the lessons from Covid

No one would choose to repeat the last 20 months. For many rare dis­ease fam­i­lies, Covid-19 caused addi­tion­al heartache, anx­i­ety and strain. How­ev­er, advo­cates think lessons can be learned from this trag­ic peri­od. Out of neces­si­ty, for exam­ple, the NHS embraced remote patient mon­i­tor­ing and wear­able devices. Patients no longer had to trav­el miles to vis­it spe­cial­ists – instead, they could have a vir­tu­al con­sul­ta­tion via video link. 

“Hav­ing to dri­ve for three hours to sit in hos­pi­tal for a 10 to 15-minute appoint­ment and then dri­ve three hours home again is not the best use of any­one’s time,” says McK­night. Now that remote mon­i­tor­ing is more com­mon, it’s key to ensure test results can be embed­ded in elec­tron­ic health­care records so experts can quick­ly access an up-to-date account of a patient’s con­di­tion. 

More focus on remote care could also present oppor­tu­ni­ties for clin­i­cal research into rare dis­eases. Even before Covid, con­duct­ing clin­i­cal tri­als for rare con­di­tions was chal­leng­ing due to the small num­bers of peo­ple in each coun­try liv­ing with a par­tic­u­lar ill­ness. Rare dis­ease patients often had to trav­el long dis­tances to par­tic­i­pate in med­ical research. 

How­ev­er, ‘decen­tralised clin­i­cal tri­als’ – which rely on vir­tu­al col­lab­o­ra­tion between researchers, med­ical teams and patients – are becom­ing more com­mon. Col­lect­ing patient data using dig­i­tal tech­nol­o­gy, such as wear­able devices, rather than in-per­son tests might attract and retain a wider pool of tri­al sub­jects. It could mean treat­ments are approved faster.  

The pan­dem­ic has accel­er­at­ed the adop­tion of such phe­nom­e­na, with many argu­ing that decen­tralised tri­als will only grow in pop­u­lar­i­ty as they help to improve rep­re­sen­ta­tion and access across geo­graph­i­cal loca­tions, says Dr Tim Guil­liams, CEO of Healx, an AI drug dis­cov­ery plat­form for rare dis­eases. “By allow­ing peo­ple to com­plete the tri­al from the com­fort of their own home, patients can also feel more at ease through­out the process, reduc­ing drop-out rates sig­nif­i­cant­ly.”

Dr Jen­ny Rivers, deputy direc­tor of research and inno­va­tion at Great Ormond Street Hos­pi­tal, believes Covid-19 has made more peo­ple aware of clin­i­cal research and how they can get involved, which will also poten­tial­ly improve recruit­ment rates for rare dis­ease treat­ment tri­als. 

“More peo­ple under­stand what med­ical research is and the pow­er of clin­i­cal tri­als,” she says. She’d like to see research auto­mat­i­cal­ly embed­ded into all aspects of clin­i­cal care and believes remote mon­i­tor­ing tools could one day make this pos­si­ble. “Remote con­sul­ta­tions mean that we’ll be able to poten­tial­ly offer more treat­ments and access to clin­i­cal tri­als in areas that we haven’t been able to before.”

Government strategy on rare diseases

Some experts are opti­mistic that Covid-19 has made lead­ers more aware of the chal­lenges of liv­ing with a rare ill­ness in the UK. In Jan­u­ary 2021, the Depart­ment of Health and Social Care released its vision for improv­ing the lives of peo­ple with rare con­di­tions, aim­ing to speed up diag­no­sis, increase aware­ness and improve treat­ment and care. 

The UK Rare Dis­ease Frame­work sug­gests four main pil­lars for improve­ment: help­ing patients get a final diag­no­sis faster; increas­ing aware­ness of rare dis­eases among health­care pro­fes­sion­als; bet­ter coor­di­na­tion of care; and improv­ing access to spe­cial­ist treat­ment and drugs. 

Dr Lucy McK­ay, CEO of Medics4RareDiseases, thinks the frame­work is a pos­i­tive step towards address­ing the needs of patients who have been dis­pro­por­tion­ate­ly impact­ed by the pan­dem­ic. She sug­gests that the sec­ond pri­or­i­ty is par­tic­u­lar­ly impor­tant. “Mak­ing sure that every health­care pro­fes­sion­al under­stands the role they have to play in rare dis­ease diag­no­sis and man­age­ment has to under­pin the frame­work for it to actu­al­ly make real change,” she argues.

Thomp­son thinks the report is encour­ag­ing, but it’s what hap­pens next that will have the most impact. “There’s def­i­nite­ly been a real, seri­ous push to engage with the rare dis­ease com­mu­ni­ty but until we see what the imple­men­ta­tion plan is going to be, it’s hard to judge,” he says. 

He hopes for a big push around care coor­di­na­tion, the framework’s third pri­or­i­ty. The suc­cess of the 100,000 Genomes Project has led to the NHS Genom­ic Med­i­cine ser­vice, which aims to sequence 5 mil­lion genomes in Eng­land between 2018 and 2023 and means more rare dis­ease patients like Livvy are final­ly receiv­ing answers. 

But infra­struc­ture and invest­ment must be in place to sup­port new­ly diag­nosed patients, says Thomp­son. “We’re sleep­walk­ing into a trap there if we’re not care­ful,” he says. All four UK nations will now devel­op action plans to address the framework’s four pri­or­i­ties.

Despite the colos­sal chal­lenges rare dis­ease com­mu­ni­ties faced in 2020 and 2021, oppor­tu­ni­ties have emerged for bet­ter access to spe­cial­ist med­ical ser­vices and more con­ve­nient par­tic­i­pa­tion in clin­i­cal research, which could make a real dif­fer­ence to patients’ lives. 

“As we’ve learned with Covid, if there’s a will there’s a way,” says McK­ay. “We’ll see in the next few years if there’s a will when it comes to rare dis­eases.”

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