Whilst there is generally no cure for a rare disease, there have been huge advances in treatment options. The goal for first generation treatments was survival, but second generation treatments are now helping patients live a more ‘normal’ life and enjoy a better quality of living. And just last year, we saw landmark breakthroughs in advanced genetic therapies, such as viral mediated gene transfer and CAR-T therapies. Today, thankfully, infants with rare diseases can often live much longer and grow up to enjoy the milestones of life through childhood, adolescence and adulthood. Clearly treatment can be life-saving and life-changing. However, the lack of awareness around rare diseases, and the diagnosis challenge, still remains. And, as patients live longer, this creates whole new challenges to make sure they receive the level of care they need. Ashfield's presentation explores these challenges and how the pharmaceutical and healthcare industry can respond to them.

1. www.ashfieldhealthcare.com
From infancy to
adulthood:
a new generation of
challenges for rare disease
communities
Matt Brierley and Nagore Fernandez

2. www.ashfieldhealthcare.com: Part of UDG Healthcare plc2
Ashfield, a global
leader in healthcare
commercialisation
solutions
To partner with our clients, helping to improving lives by
helping healthcare professionals and patients get the
medicines, knowledge and support they need.
PA R T N E R I N G W I T H
T H E T O P 2 0 G L O B A L
P H A R M A C O M PA N I E S
>6,000
PEOPLE
A N D O F F ICES
I N 2 3
CO U N T RI ES
O U R M I S S I O N
A D I V I S I O N O F
O U R VA L U E S

3. www.ashfieldhealthcare.com3 : Part of UDG Healthcare plc
We have supported patients in over 30 rare
disease areas, including…
Acromegaly Hyperparathyroidism Phenylketonuria (PKU)
Pulmonary arterial hypertension (PAH) Refractory gout Tardive dyskinesia
Familial hypercholesterolemia Hereditary angioedema Refractory multiple myeloma
Hypophosphatemia Short bowel syndrome Fabry and Gaucher disease
Haemophilia Idiopathic pulmonary fibrosis (IPF) Hunter syndrome
Renal cell carcinoma Neuroendocrine tumours Huntington's disease
Lupus nephritis Behcet’s disease Niemann Pick Disease
Batten disease ALK-positive tumours Spinal muscular dystrophy

4. www.ashfieldhealthcare.com4 : Part of UDG Healthcare plc
As patients live longer with new treatments, there are whole
new challenges to respond to
Finding specialist care Early development Independence Isolation
Transition to adult care Starting a family Co-morbiditiesWorking Life

5. www.ashfieldhealthcare.com5 : Part of UDG Healthcare plc
The burden of diagnosis
Misdiagnosis and late diagnosis
40% of rare disease patients
are misdiagnosed at least once
and it’s a difficult journey
https://www.shire.com.co//media/shire/shireglobal/shirecolombia/pdffiles/patient/diag
nosis/rarediseaseday-globalchallenge.pdf
The average length to
accurate diagnosis is
approximately 4.8 years
with medical, economic and
social impact
Primary care physicians often
do not link the symptoms
to a rare disease

6. www.ashfieldhealthcare.com6 : Part of UDG Healthcare plc
Raising awareness and initiating diagnosis
Working in
partnership with
advocacy groups
Online patient
and HCP
awareness
campaign
Outbound
contact centre
targeting HCPs
Posters in
physician offices
Email/post
targeting HCPs
Pharmacy
intervention
HCP education on
genetic testing
and signposting
to specialist
centres
“At my initial diagnosis, the doctor didn’t really tell me anything, he didn’t know what to say …knew nothing about it…there’s a lot of ignorance
around the initial diagnosis, and understanding the overall impact on your life and the length of your life.” Rare disease patient
Multichannel awareness campaigns:

7. www.ashfieldhealthcare.com7 : Part of UDG Healthcare plc
Comprehensive patient
identification programmes
Initial scouting:
Contact Centre survey
Face-to-face:
Diagnosis Service Team
Follow-up:
Field team or client’s
medical department
Our Contact Centre reps call thousands of physicians, using a
questionnaire to screen for those HCPs likely to have potential
patient cases and interested to find out more.
Our Diagnosis Service Team makes 12-14 visits per day to
deliver materials, key messages and identify physicians keen
to engage with our client’s field team.
Bypass if
screened
HCP has a
suspected
patient

8. www.ashfieldhealthcare.com8 : Part of UDG Healthcare plc
Patients’ need for
relevant information
It’s challenging to find the
right doctor and patients
often need to become
experts in their own
condition
Patients’ and caregivers’
communication needs
evolve
Beyond the
pathophysiological and
physical impact:
emotional and social
needs

9. www.ashfieldhealthcare.com9 : Part of UDG Healthcare plc
Communicating
with impact
Make it relevant!
Involve patients
Work with health psychologists
Personalise
Make it interactive
Refresh

10. www.ashfieldhealthcare.com10 : Part of UDG Healthcare plc
Thank you for reading a sample of this
deck on rare disease challenges. To
arrange a presentation of the full deck,
including patient videos, please contact:
Matt Brierley, VP Medical and Scientific Services
matthew.brierley@ashfieldhealthcare.com
Nagore Fernandez, Head of Patient Services, EUCAN
nagore.fernandez@ashfieldhealthcare.com