ROJoson PEP Talk: Rare, Uncommon and Common Diseases

1. Rare,
Uncommon,
and Common
Diseases
March 04, 2023
1400H - 1500H
Via Zoom
Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.

2. ROJoson PEP Talk
I have a Patient
Empowerment
Program in which I
like to empower the
lay people or
patients to take
control in the
management of
their health.
Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
Rare,
Uncommon,
and Common
Diseases

3. I started the PEP Talk
on May 15, 2021.
There are 3 courses
in the PEP Talk.
I completed the Core
Course on October 9,
2021.

4. From October 23,
2021 onwards, I have
been tackling Health
Disorder and Health
Issue Courses. This
may take 3 years or
longer depending on
our enthusiasm and
perseverance.

5. My PEP TALK today is
entitled:
Rare, Uncommon,
and Common
Diseases
In consonance with
DOH Health
Awareness Calendar
- National Rare
Disease Week (Feb)
Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
Rare,
Uncommon,
and Common
Diseases

6. Republic Act 10747
Last week of February has
been declared in the
Philippines as the National
Rare Disease Week (NRDW)
following RA 10747 of 2016.
Rare,
Uncommon,
and Common
Diseases

7. Republic Act 10747
"Rare Diseases Act of the Philippines"
It is the State policy to protect and promote the
right to health of the people, including the right
of persons suffering from rare diseases to survival
and full and healthy development as individuals
through access to timely health information and
adequate medical care.
The Republic Act 10747 aims to institutionalize
the care and welfare of Filipinos with rare
diseases.
Rare,
Uncommon,
and Common
Diseases

8. Contents of PEP Talk:
- What is a RARE DISEASE?
- What are examples of RARE DISEASES?
- What are the usual causes of RARE DISEASES?
- What are the challenges of RARE DISEASES?
- When to suspect RARE DISEASES in children?
- What are the differences among rare,
uncommon and common diseases?
- What is the usefulness of knowing the
differences of rare, uncommon and common
diseases?
- What are the challenges in rare, uncommon
and common diseases?
Rare,
Uncommon,
and Common
Diseases

9. - What is a RARE DISEASE?
Republic Act 10747 defines rare diseases as
disorders such as inherited metabolic disorders
and other diseases with similar rare occurrence as
recognized by the Department of Health (DOH)
upon recommendation of the National Institutes
of Health (NIH) but excluding catastrophic (i.e.,
life threatening, seriously debilitating, or serious
and chronic) forms of more frequently occurring
diseases.
Rare,
Uncommon,
and Common
Diseases

10. - What is a RARE DISEASE?
RARE OCCURRENCE
Definitions of rare occurrence of diseases vary
from countries to countries. Examples:
 US = 1 in 1,500 population
 Europe = 1 in 2,000
 Japan = 1 in 4,000
 Taiwan = 1 in 10,000
 Philippines = 1 in 20,000
These statistics have to
be monitored through a
national registry.
PH –
RARE DISEASE REGISTRY
(NIH-DOH)
Rare,
Uncommon,
and Common
Diseases

11. - What is a RARE DISEASE?
Global and Philippine Statistics
Globally
• 10% to 15% of individuals worldwide are
roughly estimated to be affected by rare
disease
• 5,000-8,000 rare diseases are thought to exist,
with approximately 250 new diseases being
described on an annual basis.
• WHO has a list of more than 500 rare diseases
in its ICD coding.
WHO Statistics –
prevalence of 0.65 to 1%
Rare,
Uncommon,
and Common
Diseases

12. - What is a RARE DISEASE?
Global and Philippine Statistics
Philippines
Philippines as of 2022 has now a list of 159 rare
diseases being facilitated by the Rare Disease
Registry.
The number will increase as time goes by and as
new rare diseases are discovered and
documented.
As of 2021, there are
887 cases registered
with rare diseases.
(inclusive of those
who have died)
Rare,
Uncommon,
and Common
Diseases

13. - What are examples of RARE DISEASES?
Examples of rare, orphan disorders:
 Pompe Disease
 Gaucher Disease
 Maple Syrup Urine Disease (MSUD)
 Fabry Disease
 Mucopolysaccharidosis (MPS).
In the Philippines, the maple syrup urine disease
is quoted to be the most commonly seen Rare
Disease.
Down syndrome is
not part of the list
of rare diseases as it
occurs in 1 in 800
population.
Rare,
Uncommon,
and Common
Diseases

14. - What are examples of RARE DISEASES? The patient’s body and urine
smell like maple syrup. It is a
genetic and metabolic
problem, and is the most
common rare disease in the
Philippines, affecting one in
40,000 people. Maple Syrup
Urine is not fatal when
detected at an early age
(when a baby is still days
old), but it is a lifelong
condition that needs a
special diet with protein
intake carefully calculated.
Rare,
Uncommon,
and Common
Diseases

15. - What are examples of RARE DISEASES?
Rare,
Uncommon,
and Common
Diseases

16. - What are examples of RARE DISEASES?
Rare,
Uncommon,
and Common
Diseases
Examples of RARE DISEASES not categorized as
genetically inherited metabolic disorders:
• Auto-immune diseases
• Rare congenital birth defects
• Rate tumor / benign and malignant
Any disease that occurs in 1:20,000 population
whether with genetic background or not is a
RARE DISEASE.

17. - What are the usual causes of RARE DISEASES?
Majority of RARE DISEASES in the Philippines and
globally are due to genetic origin (particularly
inherited metabolic disorders) – quoted at 70 to
80%.
Majority affect the children – quoted at 50% to
70%.
About 30% of patients with rare diseases are
dying before age 5.
Rare,
Uncommon,
and Common
Diseases

18. - What are the challenges of RARE DISEASES?
Because of limited information available, it is
common for rare diseases to be misdiagnosed in
its early stages.
Trying to diagnose them entails a lot of medical
consultations and procedures leading to a lot of
medical expenses. (very costly to manage)
Rare diseases are
tough to diagnose
because most
doctors don't see
them (often) – not
familiar.
Rare,
Uncommon,
and Common
Diseases

19. - What are the challenges of RARE DISEASES?
Also, the characteristics of a rare illness usually
include the following:
 They are often chronic, progressive,
degenerative, and life-threatening.
 They have a high level of pain and suffering for
patients and their family.
 They are disabling while compromising a
patient’s quality of life due to the lack or loss
of autonomy.
Rare,
Uncommon,
and Common
Diseases

20. - What are the challenges of RARE DISEASES?
Rare Diseases Difficult to Diagnose, Cures
Hard to Come By
Patients with rare diseases often face a
long journey from diagnosis to treatment.
Rare,
Uncommon,
and Common
Diseases

21. - What are the challenges of RARE DISEASES?
Filipinos born with rare diseases are “orphaned”
by society.
They suffer from social abandonment because of
lack of existing network of support to aid them.
Medical help is elusive under the conditions of
the country’s health priority. The nature of their
illness is hardly known due to lack of information
and only a few medical professionals, particularly
in the country, are aware of these disorders and
know how to diagnose and address these
conditions.
Rare Diseases
=
Orphan Diseases
Rare,
Uncommon,
and Common
Diseases

22. - What are the challenges of RARE DISEASES?
How do you identify rare diseases?
In recent years, gene panels, microarrays, and
exome sequencing have helped to identify the
molecular cause of such rare and undiagnosed
diseases. These technologies have allowed
diagnoses for a sizable proportion (25–35%) of
undiagnosed patients, often with actionable
findings.
GENETIC TESTING
Rare,
Uncommon,
and Common
Diseases

23. - What are the challenges of RARE DISEASES?
Newborn Screening (NBS) and Rare Disease
NBS is one method for screening and detection.
NBS is aimed at the early detection of infants with
genetic, metabolic, and infectious conditions.
Newborn Screening Act of 2004 or RA 9288
Rare,
Uncommon,
and Common
Diseases

24. - What are the challenges of RARE DISEASES?
Persons with rare disease shall be considered as
persons with disabilities (PWDs), in accordance
with Republic Act No. 7277, as amended, or the
Magna Carta for Disabled Persons.
There are PhilHealth packages for Rare Diseases.
Rare,
Uncommon,
and Common
Diseases

25. - What are the challenges of RARE DISEASES?
Newborn screening program in the Philippines
currently includes screening of six disorders:
Congenital Hypothyroidism (CH), Congenital
Adrenal Hyperplasia (CAH), Phenylketonuria
(PKU), Galactosemia (GAL), Glucose-6-Phosphate
Dehydrogenase (G6PD) Deficiency and Maple
Syrup Urine Disease (MSUD).
Rare,
Uncommon,
and Common
Diseases

26. - What are the challenges of RARE DISEASES?
EC. 6. Referral of Patients with Rare Disease. —
Patients highly suspected of, or diagnosed with,
rare disease shall be referred to a newborn
screening continuity clinic identified by the DOH
as referral centers for treatment of rare diseases
under the National Comprehensive Newborn
Screening System.
Rare,
Uncommon,
and Common
Diseases

27. A
- When to suspect RARE DISEASES in children?
Suspect RARE DISEASE in children (especially
newborn up to toddler years up to preschooler)
when there is something UNUSUAL in the physical
and mental health.
Have the children check right away by a
pediatrician.
Rare,
Uncommon,
and Common
Diseases

29. If there is such a thing as RARE DISEASES, then
there must be COMMON and UNCOMMON
DISEASES.
If RARE DISEASE in the Philippines is defined as a
frequency of 1 in 20,000 population or less,
then it follows that a disease, whose frequency is
more common than 1 in less than 20,000, say 1 in
10,000 or 1 in 5,000, is NOT considered RARE
DISEASE anymore.
It may be common or uncommon.
At the moment, there is no cut-off frequency for
common or uncommon diseases.
Common diseases
are those that occur
in large numbers.
Uncommon and rare
diseases are those
that occur in smaller
numbers.
One has just to
tabulate the
frequencies to
determine the
answers.
Rare,
Uncommon,
and Common
Diseases

30. • What is the usefulness of knowing the
differences among rare, uncommon, and
common diseases?
Rare,
Uncommon,
and Common
Diseases
Helps in the clinical diagnostic process.
• For example, if the symptoms and signs have
the same pattern for 2 or 3 diseases, the
primary suspect should be one that is most or
more common rather the less or least
common.

31. • What is the usefulness of knowing the
differences among rare, uncommon, and
common diseases?
Rare,
Uncommon,
and Common
Diseases
Helps in the public health management.
• For example, prioritizing health programs for
the more common diseases, rather than rare
diseases, especially if there is resource
constraint.

32. - What are the challenges in rare, uncommon
and common diseases?
Rare,
Uncommon,
and Common
Diseases
Rare and uncommon diseases:
• May be difficult to recognize and diagnose
(may undergo a lot of consults and tests before
the diagnosis is established).
• May be difficult to treat.
• May entail more costs in medical management.
Common diseases:
• May be difficult to decrease the burden of the
diseases in the community.

33. Contents of PEP Talk:
- What is a RARE DISEASE?
- What are examples of RARE DISEASES?
- What are the usual causes of RARE DISEASES?
- What are the challenges of RARE DISEASES?
- When to suspect RARE DISEASES in children?
- What are the differences among rare,
uncommon and common diseases?
- What is the usefulness of knowing the
differences of rare, uncommon and common
diseases?
- What are the challenges in rare, uncommon
and common diseases?
Rare,
Uncommon,
and Common
Diseases
Summary
Take Away

34. Take Away in
relation to
Patient
Empowerment
Be always in touch with reliable medical
information on RARE, UNCOMMON and
COMMON medical diseases.
Knowledge is power; it gives power.
Use the 4Ks of Patient Empowerment:
Kaalaman, Kakayanan, Karapatan and
Kapangyarihan
to gain greater control over decisions in
cases of RARE, UNCOMMON and
COMMON medical diseases.
Rare,
Uncommon,
and Common
Diseases

35. Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
Rare,
Uncommon,
and Common
Diseases