RARE DISEASESCOMMUNICATION DOCUMENTRARE DISEASESCOMMUNICATION DOCUMENT
Rare Diseases: a socially important rarity
A rare disease is a disease with an incidence ofThink of a better future.
Now and after Covid-19

cially punishing for persons afflicted with rare

and their numbers, in terms of each rare disease,diseases: fragile patients who in the first phaseare extremely limited.

of the pandemic were often not able toFor this reason, rare-disease patients’ immediate

Covid-19 struck the international communityand Italy with the force of a tsunami and its

have their healthcare needs satisfied.

access to rare-disease therapies, and which

This finding has been confirmed by

are often the only treatment available, constitutes

ongoing effects are subjecting the National Healthan investigation conducted by thea non-deferrable right. And obstacles placed in

System to intense pressure.

Superior Health Institute's National

the way of this right adversely affect both patients

Rare

and their families.

fewer than 5 cases per 10,000 persons.

DiseasesCentreandRare diseases number between 5,000 andAccording to the Centre for Research in Healthcare

UNIAMO: 52% of patients re-

8,000 worldwide and mainly affect children who
account for between 50% and 75% of all

Economics and Management (CREMS) of thenounced examinations and routine visits or rehabilitative therapies for fearof contagion; over 46% experienced practical difficulties: in healthcare and welfare assistance

Unfortunately, access to pharmacological the-(31%); in accessing medicines as a result of tran-

Furthermore, nor can the national protection

sport and healthcare malfunctions (16%).

network for persons affected by a rare disease

patients. Moreover, the rarity of such diseases isoften a complicating factor in the research forpharmaceutical treatments.
Therefore, news of a medicine that can finallytreat a rare disease always elicits an unforgettable emotion among rare-

Carlo Cattaneo LIUC University, during lockdown

20.4 million blood analysis and more than amillion hospital admissions were forgone and12.5 million diagnostic exams and 13.9 million specialist visits had to be reprogrammedor cancelled. And further consequences include
ever longer waiting lists for TACS, magnetic
resonances and simple ultrasound scans.

disease patients who have hadrapy, authorised at national level by the Italian
Medicines Agency, is not equally or promptly
available throughout the country as a whole.

guarantee uniform coverage.
For these reasons it is necessary to make plans

Far too many differences exist not only in terms

for a better future. Not only now when the pan-of links between healthcare centres and territo-

demic is in full swing, but also when it is finallyrial structures but also as regards deficiencies into coexist, often since birth,

We have witnessed the partial "emptying" ofdefeated thanks to the vaccines and pharmacolo-

many areas of the national territory that preventwith the pathology.

general practitioners’ surgeries but also andgical therapies under development.

rare-disease patients from enjoying equal access

Such treatment, by remo-

to a greater extent specialists’ surgeries.

to available medicines.

Rare Diseases, neglected diseases

ving the suffering and li-

The pandemic has lowered the already limited

mits frequently determined

This overview was also confirmed by Cittadinan-

by rare diseases, is a first step

zattiva’s latest national report on chronicity policies,

All patients are fragile by definition since they

toward a better quality of life.

from which it emerged that more than two patients out

must deal with the difficulties and limits determined

And sometimes "this" new treatment can offer

of five had their examinations or surgery cancelled.

by their disease. However, as concerns rare-a realistic hope of recovery.
This situation penalizes everybody, but it is espe| 2 |disease patients their fragility is even greaterattention reserved to rare disease patientseven further: no further information, for example,
has been forthcoming both on the National Rare
Diseases Plan, which has remained inactive

because, in most cases, the patients are children

since 2016 like its funding, and the regular revi-| 3 |sion of the neonatal screening panel. However,Moreover, the pharmaceutical companies havewhere the clinical conditions of the patient/patho-

Health Vice Minister Pierpaolo Sileri’s announce-

introduced many other initiatives designed tology make this possible, in order to reduce thement occasioned by fear of contagion in hospitalenvironments, but also bestows many benefits

ment in September that the ministry has under-

reconcile the work and living activities ofrisk of infection from Sars-CoV-2 in elderly pa-

upon patients: the guarantee of therapeutic com-taken to produce a new plan as soon as
possible is a highly positive signal.

their employees, especially those having to copetients and/or with chronic diseases, and therefore

pliance and receiving correct treatment, an im-with fragile and complex situations on a daily

also rare-disease patients, and in so doing has

provement in patients’ mental health, which, in

Similarly, the recent decree setting up abasis such as families affected by a rare disease.

reduced the number of visits to specialised sur-turn, helps them to cope with their disease better,geries. A novelty that should be consolidated

and the administration of therapy in a family en-and expanded.

vironment.

ministerial table to address the revision of the list of diseases subject
to neonatal screening is also

During the Covid-19 health emergency, pharma-encouraging. This is a first stepin this field specifically in order to manage theIn full Covid-19 emergency, some regions im-towards accelerating work on

special fragility of persons suffering from rare di-plemented measures to facilitate access to the-Home therapy is a perfect example of an improvement that has undoubtedly benefited rare

improving arrangements forseases.

rapy by shifting the distribution of A-PHT

disease patients and goes inthe direction of telemedicine

Thinking about patients’ future

medicines from direct distribution to pharmacy-facilitated distribution for the purposeof reducing the risk of infection in hospital struc-a matter often addressed

The first Covid-19 wave has taught us to gotures for most fragile patients. Another change

by Minister Speranza. Thisbeyond accepted practices if we are tothat could be confirmed refers to the redistribu-

important measure merits

deal with future contingencies
better. Therefore, we must im-tion of healthcare assistance to territorial outlets,

greater application especially

especially as regards widely used medicinal pro-as it is a means for strengthe-

prove access to information,

ducts, leaving the public structures with the solediagnosis, screening, home and ho-task of distributing medicines for which special

ning a partnership between the public andprivate sectors.

spital care and therapies. However,conditions apply.

ceutical companies have redoubled their efforts

early diagnosis.

The commitment of pharmaceuticalcompanies
Whenever possible and wherever applicable,

pharmaceutical companies have for years
been implementing patient support programmes and home therapy. These instruments
offer numerous advantages for rare-disease

and proximity medicine,patients and their families. They facilitate therapeu-much important work has already been done andtic compliance and access to medicines, improvethe competent public health authorities should be

In these times of health emergency, the Italian

in all our lives. Consolidating our best achie-

the clinical monitoring of the pathology, minimise

accorded the merit due for the steps taken.

Medicines Agency in view of the fragility of raredisease patients has deemed it advisable to provide greater access to home therapy. Thismeasure has not only minimized potential
risks deriving from discontinuities in treat-vements and learning from past experiences isrisks for fragile patients (for example, by obviating
the need for frequent visits to a hospital or a

For example, the Italian Medicines Agency has

hospital pharmacy) and simplify caregivers’ everyday

extended the validity of its therapeutic plans

activities by providing them with practical support.

for medicinal products subject to monitoring,| 4 |The pandemic has engendered profound changes| 5 |the right course if we are to continue to work for
improved healthcare and build a better future:a future that embraces us all, including the mostfragile patients.

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