Working to improve the lives of people with rare diseases

In the UK, across the EU and glob­al­ly, a strong momen­tum is build­ing to improve the lives of peo­ple liv­ing with rare dis­eases. This includes the UK Rare Dis­eases Frame­work, Eurordis’s #30millionreasons for Euro­pean action on rare dis­eases cam­paign and the glob­al community’s call for a UN res­o­lu­tion on the issue. Patient groups are press­ing for bet­ter access to care and treat­ments, and for a greater under­stand­ing of the cor­ro­sive and all-encom­pass­ing impact con­di­tions have on their lives as mem­bers of soci­ety.

In the UK, around 3.5 mil­lion peo­ple have to cope with the debil­i­tat­ing effects of rare dis­eases, accord­ing to the Depart­ment of Health and Social Care. The vast major­i­ty wait years for an accu­rate diag­no­sis and then strug­gle to access effec­tive treat­ment — if it even exists.

Promis­ing pol­i­cy ini­tia­tives have launched that sup­port the progress of research into and access to rare dis­ease ther­a­pies. The cur­rent focus on address­ing health inequal­i­ties is encour­ag­ing. How­ev­er, imple­men­ta­tion will be key and con­sis­ten­cy between poli­cies the lit­mus test. For instance, how can the UK be a leader in genomics and still lag its Euro­pean part­ners for new­born screen­ing? How can health inequal­i­ties with­in the rare com­mu­ni­ty be ful­ly addressed if med­i­cines approval cri­te­ria are often fail­ing to con­sid­er ful­ly the impli­ca­tions on all affect­ed?

“There is so much uncer­tain­ty for peo­ple liv­ing with rare con­di­tions,” says Vic­to­ria Hayes, direc­tor of pub­lic affairs, North­ern Clus­ter, for Kyowa Kirin, a Japan-based glob­al spe­cial­ty phar­ma­ceu­ti­cal com­pa­ny involved in rare dis­eases. “Inequal­i­ty exists all along their jour­ney from diag­no­sis to access to treat­ment and care, with hid­den costs to soci­ety.”

The Nation­al Insti­tute for Health and Care Excel­lence (oth­er­wise known as NICE) has just car­ried out a con­sul­ta­tion on its eval­u­a­tion meth­ods to sup­port the ambi­tion of the NHS to pro­vide high-qual­i­ty care that offers good val­ue to patients and to the NHS.

“Kyowa Kirin believes the pro­posed changes – to be con­firmed when the out­come of the con­sul­ta­tion is made pub­lic – are a step in the right direc­tion. We wel­come the work being done but want to see more because peo­ple with rare dis­eases are huge­ly dis­ad­van­taged,” says Richard John­son, Kyowa Kirin gen­er­al man­ag­er, North­ern Clus­ter.

Research in this area pos­es spe­cif­ic chal­lenges. The small num­ber of patients and the few­er treat­ment options mean, for exam­ple, that to eth­i­cal­ly recruit in a clin­i­cal tri­al find­ing the right com­para­tor is ardu­ous.

“Most impor­tant­ly, all of us need to have the right mind­set to mean­ing­ful­ly lis­ten and engage with peo­ple liv­ing with rare con­di­tions. Rare con­di­tions can come with the risk of down­ward social mobil­i­ty. Peo­ple can be sti­fled in their career aspi­ra­tions, while their per­son­al rela­tion­ships and fam­i­ly life are affect­ed. Research sug­gests that, in some cas­es, there is a down­ward social spi­ral for fam­i­lies where the dis­ease is hered­i­tary,” says John­son.

The UK Rare Dis­ease Frame­work sets out the basis for each of the four UK nations to draft their action plans, expect­ed to be pub­lished short­ly.

“The dev­il will be in the detail; we hope these plans will be an impor­tant step for­ward. Access to mul­ti-dis­ci­pli­nary teams that can see the whole per­son will be cru­cial,” says Hayes. “Like the patient groups we work with, we want to see the uncer­tain­ty tak­en out of the sys­tem and greater flex­i­bil­i­ty intro­duced when con­sid­er­ing rare con­di­tions in terms of clin­i­cal tri­als and drug approval. At the end of the day what mat­ters is peo­ple and their lives; the full pic­ture not just the med­ical notes.”

For more infor­ma­tion on Kyowa Kirin please vis­it https://international.kyowa-kirin.com/uk/

Pro­mot­ed by Kyowa Kirin