Orphaned
by Maria Kathrina Lopez Yarza
February 20, 2012
Growing up, I had been misdiagnosed with different disorders and diseases — sebaceous cysts, severe migraine, Bell’s palsy, polio, scoliosis, myasthenia gravis, etc.
It was when I was 22 years old in 2004 when we learned that all my other previous medical conditions were related to one another, and Neurofibromatosis Type 2 (NF2) is what my disorder is called.
At that time, I needed an open-head surgery because of the three harmful tumors in my brain. Due of the rarity of my disorder, it took quite a long time before I was properly diagnosed.
NF2 affects 1 out of 25,000 people, and most people would see it as my misfortune. But I see it as a blessing because that prevents 24,999 other people from having it. Having this disorder made me aware not only about NF, but it also became an eye opener for me and for the people around me that there are a lot of other rare diseases that exist all over the world.
Rare Disorders
Did you know that Galactosemia is a disorder that affects how the body processes a simple sugar called galactose? Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and bleeding. Classic galactosemia occurs in one in 30,000 to 60,000 newborns.
Did you know that Gaucher disease is a chronic, progressive, inherited disorder in which lipids (glucocerebrosides), accumulate within cells and interfere with the normal functioning of various organs like the liver, spleen, lungs, bone marrow, and brain? The incidence of this disease is one in 40,000 to 60,000.
Did you know that Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital)? Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental retardation. Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects one in 10,000 to 30,000 newborns.
Did you know that Osteogenesis imperfecta (OI) or Brittle Bone Disease is a group of genetic disorders that mainly affect the bones? People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. This condition affects an estimated 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting four to five per 100,000 people.
Did you know that Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, is caused by an inherited deficiency in the enzyme iduronate-2-sulfatase (or I2S)? Lack of this enzyme affects the body’s ability to break down and recycle cellular waste. Hunter syndrome affects approximately one in every 155,000 people.
More than 7,000 rare diseases affect millions of people and 75 percent of those affected are children. None of these diseases have cure and only five percent have treatments and therapies as remedy.
Here in the Philippines, a rare disease called orphan disorder afflicts no more than one of every 20,000 individual.
Isolated
I learned these facts from Philippine Society for Orphan Disorders, Inc. (PSOD) — a non-profit organization that was organized to continue the efforts of doctors to ensure sustainability of medical and financial support of patients with rare disorders.
Filipino patients born with rare disorders or diseases are mostly “orphaned” by society and 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 these illnesses 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.
With the help of the Institute of Human Genetics (IHG) and its partner organizations and donors, PSOD aims to be the central network for the advocacy and effective coordination of all viable efforts to sustain a better equality of life for individuals with orphan or rare disorders in the Philippines.
Rare Disease Week
Presidential Proclamation No. 1989 issued on February 8, 2010 declares the last week of February as ‘National Rare Disease Week’, from February 22 to 29, 2012. World Rare Disease Day will be held on February 29, 2012 with the theme “Solidarity: Rare But Strong Together”
PSOD aims to have a stronger awareness campaign for the general public in 2012 by involving all relevant stakeholders such as government agencies, healthcare institutions, local government units, non-government organizations, the media, and other private and public institutions in the campaign.
The PSOD believes that every person has the right to life even if their disease only affects a small number of people. For more awareness and support, visit: http://www.psod.org.ph
The word rare means “few, not widely known and recurring in distribution”; moreover, rare can also mean “something extraordinary and special”. People with rare diseases may be few, but they are not extinct. They are existent, and are also very special in many ways. They are entitled to the same basic rights and privileges as any normal person does. They are a special breed of God’s wonderful creation.
I am rare. I am as special as you are.
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