March 04, 2023

1400H - 1500H
Via Zoom

Empowerment
objective - for
laypeople to have a
Rare, basic understanding
Uncommon, of the concepts of
and Common RARE, UNCOMMON
Diseases and COMMON
diseases and how to
apply them in their
health management.
 Empowerment
objective - for ROJoson PEP Talk
laypeople to have a I have a Patient
Rare, basic understanding Empowerment
Uncommon, of the concepts of Program in which I
and Common RARE, UNCOMMON like to empower the
Diseases and COMMON lay people or
diseases and how to patients to take
control in the
apply them in their management of
health management. their health.
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.
 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.
 My PEP TALK today is
Empowerment entitled:
objective - for Rare, Uncommon,
laypeople to have a and Common
Rare, basic understanding Diseases
Uncommon, of the concepts of
and Common RARE, UNCOMMON In consonance with
Diseases and COMMON DOH Health
Awareness Calendar
diseases and how to
- National Rare
apply them in their Disease Week (Feb)
health management.
 Republic Act 10747
Rare,
Last week of February has
Uncommon,
been declared in the
and Common Philippines as the National
Diseases Rare Disease Week (NRDW)
following RA 10747 of 2016.
 Republic Act 10747
Rare, "Rare Diseases Act of the Philippines"
Uncommon, It is the State policy to protect and promote the
and Common right to health of the people, including the right of
Diseases 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.
 Contents of PEP Talk:
Rare, - What is a RARE DISEASE?
- What are examples of RARE DISEASES?
Uncommon, - What are the usual causes of RARE DISEASES?
and Common - What are the challenges of RARE DISEASES?
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?
 - What is a RARE DISEASE?
Rare, Republic Act 10747 defines rare diseases as
Uncommon, disorders such as inherited metabolic disorders
and Common and other diseases with similar rare occurrence as
Diseases 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.
 - What is a RARE DISEASE?
Rare, RARE OCCURRENCE
Uncommon,
and Common Definitions of rare occurrence of diseases vary
Diseases from countries to countries. Examples:
 US = 1 in 1,500 population These statistics have to
 Europe = 1 in 2,000 be monitored through a
 Japan = 1 in 4,000 national registry.
 Taiwan = 1 in 10,000
 Philippines = 1 in 20,000 PH –
RARE DISEASE REGISTRY
(NIH-DOH)
 - What is a RARE DISEASE?
Rare, Global and Philippine Statistics
Uncommon,
Globally
and Common
• 10% to 15% of individuals worldwide are WHO Statistics –
Diseases prevalence of 0.65 to 1%
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.
 - What is a RARE DISEASE?
Rare, Global and Philippine Statistics
Uncommon,
Philippines
and Common
Diseases Philippines as of 2022 has now a list of 159 rare
diseases being facilitated by the Rare Disease As of 2021, there are
Registry. 887 cases registered
with rare diseases.
(inclusive of those
who have died)
The number will increase as time goes by and as
new rare diseases are discovered and
documented.
 - What are examples of RARE DISEASES?
Rare, Examples of rare, orphan disorders: Down syndrome is
Uncommon,  Pompe Disease not part of the list
and Common  Gaucher Disease of rare diseases as it
Diseases  Maple Syrup Urine Disease (MSUD) occurs in 1 in 800
 Fabry Disease population.
 Mucopolysaccharidosis (MPS).
In the Philippines, the maple syrup urine disease
is quoted to be the most commonly seen Rare
Disease.
 - What are examples of RARE DISEASES? The patient’s body and urine
Rare, smell like maple syrup. It is a
genetic and metabolic
Uncommon, problem, and is the most
and Common common rare disease in the
Diseases 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.
 - What are examples of RARE DISEASES?
Rare,
Uncommon,
and Common
Diseases
 - What are examples of RARE DISEASES?
Rare,
Uncommon, Examples of RARE DISEASES not categorized as
genetically inherited metabolic disorders:
and Common
Diseases • 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.
 - What are the usual causes of RARE DISEASES?
Rare, Majority of RARE DISEASES in the Philippines and
Uncommon, globally are due to genetic origin (particularly
and Common inherited metabolic disorders) – quoted at 70 to
Diseases 80%.

Majority affect the children – quoted at 50% to

70%.

About 30% of patients with rare diseases are

dying before age 5.
 - What are the challenges of RARE DISEASES?
Rare, Because of limited information available, it is
Uncommon, common for rare diseases to be misdiagnosed in
and Common its early stages. Rare diseases are
Diseases tough to diagnose
Trying to diagnose them entails a lot of medical because most
consultations and procedures leading to a lot of doctors don't see
them (often) – not
medical expenses. (very costly to manage)
familiar.
 - What are the challenges of RARE DISEASES?
Rare, Also, the characteristics of a rare illness usually
Uncommon, include the following: 
and Common  They are often chronic, progressive,
Diseases 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.
 - What are the challenges of RARE DISEASES?
Rare,
Rare Diseases Difficult to Diagnose, Cures
Uncommon,
Hard to Come By 
and Common
Diseases  
Patients with rare diseases often face a
long journey from diagnosis to treatment.
 - What are the challenges of RARE DISEASES?
Rare, Filipinos born with rare diseases are “orphaned” Rare Diseases
Uncommon, by society. =
and Common Orphan Diseases
Diseases 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.
 - What are the challenges of RARE DISEASES?
Rare, How do you identify rare diseases? GENETIC TESTING
Uncommon, In recent years, gene panels, microarrays, and
and Common exome sequencing have helped to identify the
Diseases 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. 
 - What are the challenges of RARE DISEASES?
Rare, Newborn Screening (NBS) and Rare Disease
Uncommon, NBS is one method for screening and detection.
and Common
Diseases NBS is aimed at the early detection of infants with
genetic, metabolic, and infectious conditions.

Newborn Screening Act of 2004 or RA 9288

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

There are PhilHealth packages for Rare Diseases.

 - What are the challenges of RARE DISEASES?
Rare, Newborn screening program in the Philippines
Uncommon, currently includes screening of six disorders:
and Common
Diseases Congenital Hypothyroidism (CH), Congenital
Adrenal Hyperplasia (CAH), Phenylketonuria
(PKU), Galactosemia (GAL), Glucose-6-Phosphate
Dehydrogenase (G6PD) Deficiency and Maple
Syrup Urine Disease (MSUD).
 - What are the challenges of RARE DISEASES?
Rare, EC. 6. Referral of Patients with Rare Disease. —
Uncommon, Patients highly suspected of, or diagnosed with,
and Common rare disease shall be referred to a newborn
Diseases screening continuity clinic identified by the DOH
as referral centers for treatment of rare diseases
under the National Comprehensive Newborn
Screening System.
 A
- When to suspect RARE DISEASES in children?
Rare, Suspect RARE DISEASE in children (especially
Uncommon, newborn up to toddler years up to preschooler)
and Common when there is something UNUSUAL in the physical
Diseases and mental health.

Have the children check right away by a

pediatrician.
 If there is such a thing as RARE DISEASES, then Common diseases
there must be COMMON and UNCOMMON are those that occur
Rare, in large numbers.
DISEASES.
Uncommon,
and Common If RARE DISEASE in the Philippines is defined as a Uncommon and rare
Diseases frequency of 1 in 20,000 population or less, diseases are those
then it follows that a disease, whose frequency is that occur in smaller
more common than 1 in less than 20,000, say 1 in numbers.
10,000 or 1 in 5,000, is NOT considered RARE
DISEASE anymore. One has just to
It may be common or uncommon. tabulate the
At the moment, there is no cut-off frequency for frequencies to
common or uncommon diseases. determine the
answers.
 • What is the usefulness of knowing the
Rare, differences among rare, uncommon, and
common diseases?
Uncommon,
and Common
Helps in the clinical diagnostic process.
Diseases • 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.
 • What is the usefulness of knowing the
Rare, differences among rare, uncommon, and
common diseases?
Uncommon,
and Common Helps in the public health management.
Diseases • For example, prioritizing health programs for
the more common diseases, rather than rare
diseases, especially if there is resource
constraint.
 - What are the challenges in rare, uncommon
Rare, and common diseases?
Uncommon, Rare and uncommon diseases:
and Common • May be difficult to recognize and diagnose
Diseases (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.
 Contents of PEP Talk: Summary
Rare, - What is a RARE DISEASE? Take Away
- What are examples of RARE DISEASES?
Uncommon, - What are the usual causes of RARE DISEASES?
and Common - What are the challenges of RARE DISEASES?
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?
 Be always in touch with reliable medical Take Away in
Rare, information on RARE, UNCOMMON and relation to
Uncommon, COMMON medical diseases. Patient
and Common Empowerment
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.
 Empowerment
objective - for
laypeople to have a
Rare, basic understanding
Uncommon, of the concepts of
and Common RARE, UNCOMMON
Diseases and COMMON
diseases and how to
apply them in their
health management.