Help Doctors Help Patients with Rare Disease

sam_4634Most of us may be fortunate not to have contracted a rare disease but that doesn’t mean we won’t. And because we are not affected, it doesn’t mean we should be complacent or be totally unconcerned. If you are one of the lucky ones, then you haven’t the slightest idea of the horrors these patients of rare disease are experiencing. There are many people out there sufferning from some form of rare disease who need help badly but we are not aware of it because it does not concern us. But we should all be concerned because this is a global problem that could affect us in some way. Perhaps a friend, or a friend’s friend, or a friend’s friend’s nephew or niece is affected and needs help badly but perhaps we are too busy to care. Take the time to reach out or share information that nay help someone out there you may not know.

Much may not be known about these diseases but there are at least two areas that we can control regarding this problem which is prevention and early detection. Awareness is key.

Below are details about the rare disease to increase awareness of this unknown health enemy as well as possible responses to help alleviate, if not prevent, this problem from killing people.

Be concerned even though we may not be directly affected, because someone out there needs our help and spreading information may be our little way to help.
sam_4619A Primer on Rare Disease

What is a rare disease?

A “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them”.1 According to the World Health Organization, a disease is considered rare when it affects one person out of 2,000 or less.2

Global burden of disease

⦁ 10% to 15% of individuals worldwide are roughly estimated to be affected by rare disease, but the definition and categorization of rare diseases differ slightly by region.2,3
⦁ Definition of rare disease in some countries:
Country Prevalence/Definition
US2 < 1 in 1,500
Europe2 < 1 in 2,000
Japan2 < 1 in 4,000
Taiwan4

⦁ 80% of rare diseases have identified genetic origins.2
⦁ 50% of rare diseases affect children, and 30% of patients with rare diseases die before the age of 5.2
⦁ 5,000-8,000 rare diseases are thought to exist2, with approximately 250 new diseases being described on an annual basis3.
Burden of disease in Southeast Asia

A recent study estimates that “over 45 million people, or about 9% of the region’s population, suffer from rare diseases. This number remains contested and it could be even higher…Out of the rare diseases currently characterised in the world, it is likely that several of these diseases occur more regularly amongst Southeast Asian populations. “5

The same study also found that:
⦁ Rare disease management remains immensely challenging across the region, as costs remain high and resources are limited.
⦁ The low incidence rate of rare diseases renders management difficult as the average annual cost per person works inverse to prevalence.
⦁ The increasing number of orphan drugs and budget impact continue to concern decision makers. As such, governments worldwide face a problem in prioritizing funding for orphan drugs.
⦁ While there are positive advancements throughout Southeast Asia, barriers remain and health systems differ widely across borders.
⦁ It is important for each focus country to adopt and adapt best practices from around the world.
⦁ There is potential to organize a multi-stakeholder and multi-country approach and strategy to manage rare diseases efficiently.
Challenges in living with rare disease6

Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies:
⦁ Lack of access to correct diagnosis: the period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments (the pre-diagnosis maze);
⦁ Lack of information: about both the disease itself and about where to obtain help, including lack of referral to qualified professionals;
⦁ Lack of scientific knowledge: this results in difficulties in developing therapeutic tools, in defining the therapeutic strategy and in shortage of therapeutic products, both medicinal products and appropriate medical devices;
⦁ Social consequences: living with a rare disease has implications in all areas of life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatization, isolation, exclusion from social community, discrimination, and often reduced professional opportunities (when at all relevant);
⦁ Lack of appropriate quality healthcare (combining different spheres of expertise): Patients can live for several years in precarious situations without competent medical attention, including rehabilitation interventions; they remain excluded from the health care system, even after the diagnosis is made;
⦁ High cost of the few existing drugs and care: the additional expense of coping with the disease, in terms of both human and technical aids, combined with the lack of social benefits and reimbursement, cause an overall pauperisation of the family, and dramatically increases the inequity of access to care for rare disease patients.
⦁ Lack of access to treatment, if treatment is at all available.

Challenges in access to rare disease treatment7

Treatment (if at all available) is limited by:
⦁ Frequent misdiagnosis or failure to diagnose due to diversity of symptoms that vary not only between diseases but also between patients suffering from the same disease, and lack of recognition/awareness by local doctors
⦁ Inadequate of no treatment for 95% of diseases (many treatments only address the symptoms as no “cures” are available)
⦁ Due to chronic and debilitating nature of many rare diseases, reduced quality of life compounded by uncertainty and lack of support services
“To date, the cause remains unknown for most rare diseases. This makes rare diseases truly a global health issue. In recent decades, considerable attention has been paid worldwide to stimulate the research, development and marketing of medicinal products for rare diseases.

Get to Know PSOD
The Philippine Society for Orphan Disorders, Inc. (PSOD) was organized in 2006 to support The UP-NIH Institute of Human Genetics in in achieving access to medical treatment and supportive care of patients with rare disorders.
With the help of its partners and IHG, PSOD endeavors 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.
PSOD programs include: Patient and Family Welfare Awareness and Advocacy Resource Generation Program Development
Rare Disease Quick Facts
In the Philippines, a disease is considered rare if it affects not more than 1 in every 20,000 individuals.
Quick Facts about Rare Diseases

There are about 7,000+ rare diseases that are known worldwide and only 5% have US FDA approved treatment

80% of rare diseases are caused by faulty genes that anyone can be carrying without their knowledge

Rare diseases are often debilitating: the quality of life of patients is compromised by loss of autonomy

75% of rare diseases affect children

30% of rare disease patients die before the age of 5

Rare diseases can be responsible for 35% of deaths in the 1st year of life

On average, it takes most rare disease patients 8 years to receive an accurate diagnosis
Burden of the Disease

Limited scientific knowledge of rare diseases or inadequate information can lead to misdiagnosis or late diagnosis

Lack of appropriate quality healthcare

Inequities and difficulties in access to treatment and care

Heavy social consequences for patients

Patients and their families experience a high level of pain and suffering

To date, the Philippine Society for Orphan Disorders, Inc. (PSOD) has a registry of 319 individuals with rare disease representing 63 rare disorders. Most of these patients are children.

National Rare Disease Week (NRDW)
The last week of February was declared as the “National Rare Disease Week” in the Philippines on February 8, 2010, through Presidential Proclamation 1989.
Since then, PSOD has taken the initiative to be the central coordinating organization for the rare disease awareness week campaign in the country—bringing together different healthcare institutions, local government units, government agencies, civic organizations, volunteer organizations, media, and other private and public institutions to be united in creating awareness and support for Filipinos with rare disease.
Rare Disease Day
Rare Disease Day was first launched by the European Organisation for Rare Diseases (EURORDIS) and its Council of National Alliances in 2008 with 18 participating countries. Since than, over 100 countries have participated in over 1,000 events reaching hundreds of thousands of people and resulting in a great deal of media coverage. The political momentum resulting from the Day has also served for advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.
Even though the campaign started as a European event, it has become a world event. For more info, visit http://www.rarediseaseday.org
2017 NRDW Awareness Campaign 22-28 Feb
The Philippines celebrates the 8th National Rare Disease Week on 22-28 February 2017—joining hands with the rest of the world in the Rare Disease Day 2017 campaign with the theme “With Research Possibilities are Limitless”.
“Rare disease research is crucial to providing patients with the answers and solutions they need, whether it’s a treatment, cure or improved care. On 28 February 2017, the 10th World Rare Disease Day will see thousands of people from all over the world come together to advocate for more research on rare diseases. Over the last few decades, funds dedicated to rare disease research have increased. But it can’t stop there. Rare Disease Day 2017 is therefore an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.” (Rare Disease Day Info Pack 2017)

What you can do: Spread the word!
Here are some of the ways you can help to add your voice to the campaign during the National Rare Disease Week (NRDW) on Feb 2228 (or even for the whole month of February!):
CareForRarePH Social Media (High5!)

Like the National Rare Disease Week Page- The goal is to reach 1,000+ likes Rare Disease Week Visit fb.com/RareDiseaseWeekPH
Support the NRDW Thunderclap- We need 100 supporters who will help us NRDW surpass last year’s 679,322 social reach! Thunderclap Visit bit.ly/NRDWthunder2017 or https://www.thunderclap.it/projects/51968- careforrareph-rarediseaseweek

Customize your profile photo with a Twibbon – Get the Twibbon from bit.ly/NRDWtwibbon2017 or a Twibbon https://twibbon.com/Support/rare-disease- week-phl-2017
4 Upload your  Raise your hands for Rare Photos  – Take a photo, selfie or groupie with your hand/s raised!

Submit your photos through any of the following:
Facebook – tagging the National Rare Disease Facebook Page – posting your photos at the NRDW FB page with #CareForRarePH – sending your photos as a message to the NRDW FB

Raising your hands for rare means page Twitter you are adding your voice to the call – Tagging @rarediseaseweek and adding for better support for Filipinos #CareForRarePH in your uploaded photo afflicted with rare diseases. You can add a fan sign for rare if you can!

Official Hashtag: Our official hashtag is our call to action, a call for Use #CareForRarePH in your posts better care for Filipinos with rare disorders and status updates because everyone has a right to life and a right to healthcare. Visit our campaign page at psod.org.ph/nrdw2017 for accessible links 4

Info Campaign Raise Public Awareness
1 National Rare Disease Week Feb 22-28
Post on your website about the World Rare Disease Day. You can also add links where people can go to read more about it:
http://www.psod.org.ph http://www.rarediseaseday.org
2 Shout it out! Print banners and posters and display it in your office bulletin boards, hallways, and other ‘high- traffic’ areas so more people will know about it.

Download editable files from: bit.ly/NRDWtemplates2017

You can also play PSOD’s “Lalaban Kami” music video for public viewing. Access the file thru: https://www.youtube.com/watch?v=nsaQCF1P uTs 3 Wear it! Make blue denim ribbons out of your old denims and wear it during the campaign week. You can also handout denim ribbons to members of your organization or friends…then raise your hands for rare, take a group photo and post on our RareDiseaseWeekPH (FB) or @RareDiseaseWeek (Tweeter)
We also encourage you to design your own posters and banners for the awareness week!
Thank you for your support!

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