Love is NOT Rare
"Our job is to love others without stopping to inquire whether or not they are worthy. That is not our business, and in fact, nobody's business. What we are asked to do is to love, and this love itself will render both ourselves and our neighbours worthy."
- Thomas Merton
Love is NOT Rare
Individuals with rare diseases form a minority of our society and receive little or no attention. Due to the lack of resources, they may not receive timely and accurate diagnosis which can cause serious complications including disability and death.
Rare Disorders Society (Singapore) is a non-profit organisation initiated by parents of children with LSD (Lysosomal Storage Disorder). Established in 2011, it aims to create awareness about various life threatening rare diseases (RD).
By providing acknowledgement and investment, RDSS looks to improve lives with timely, accurate diagnosis and intervention. Through building a well-established system, it also aims to encourage society to join parents of RD patients in creating a better future for them.
1. Public Advocacy
RDSS engages traditional and new media such as newspapers, magazines, television programs, films, publications, storybooks, facebook, twitter, blog and website to raise public awareness on Rare Diseases. The society also promotes and encourages CSR (Corporate Social Responsibility) and BSR (Blogger Social Responsibility) to help raise funds and create awareness of Rare Diseases.
2. Patient Support
RDSS provides a platform for patients and their families to share their experience and knowledge with each other, as well as to provide support and encouragement. Recreational activities are also organized for patients and their families to provide them a chance to relax, relate and share. We hope to make them feel normal yet special. Some events can be organized with the general public, so that patients can feel understood and accepted.
RDSS actively seeks sustainable treatment methods for rare disease patients.
4. Hospital Collaboration
RDSS Collaborates with hospitals in various initiatives to help rare disease patients.
5. Promote International Alliance
RDSS participates in international rare disease conferences to learn from other societies and foundations to improve our service and support to RD patients in Singapore.
News and Activities
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Rare Diseases Knowledge Base
Rare disorders including those of genetic origin, are life threatening, chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
If you're a parent with a child with Rare Diseases and would like to join RDSS, download this form and fill it up. You may send it to the mailing address on the form or alternatively, you could also scan the form and email it to us at email@example.com
Rare diseases are long-standing, life threatening, progressively disabling conditions that affect a small percentage of population (1 in 2,500 individuals) and require multi-disciplinary care.
One rare disease may affect only a handful of patients in one demographic (eg. In the EU) and another might affect as many as 50,000 in other region (eg. Asia). In the EU, as many as 30 million people alone may be affected by one of the 6000 to 8000 rare diseases existing.
80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative
50% of rare diseases affect children and 30% will die before reaching their fifth birthday unless early intervention is given.
The 6000 to 8000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patient's quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
There is no systematic approach to analysing the cost-effectiveness of new technologies, treatments and services for rare diseases as a collective group. Therefore, there is a limited understanding of the resources being utilised to support people living with rare diseases, or the way in which these resources are organised to support efficient and effective management strategies.
Given the crippling nature of rare disease can lead to emotional, physical and financial stresses upon the individual, the caregivers and families. Even with the support from the healthcare system, individual affected with rare disease also require significant support from the family. In turn, those providing care also require significant support.
Genetics is the branch of biology that studies the passing on of traits and features from parents to children. These traits are called "genetic" because they're determined by tiny structures within human cells called genes. People's genetic makeup is inherited from their parents and encoded into the genes in all their cells. It controls many different things, from gender, height, and eye colour to blood type and development of certain diseases.
While many common diseases (such as heart disease, high blood pressure, types of cancer) have some genetic (that is, inherited) components, genetic diseases are those caused by specific, identifiable elements of a person's genetic makeup.
Genetic diseases can present at any age, infancy, childhood or adulthood. It can cause common problems, for example, developmental delay and poor growth. It can also have rarer presentations such as heart or liver failure.
Many advances have been made in looking for a cure for genetic disease including gene therapy and bone marrow transplantation. However, for most cases, there is no cure. Even so, many patients with genetic diseases can lead fulfilling lives with proper management of their symptoms.
Autosomal recessive genetic diseases
When both parents carry the same recessive gene, there is a 25% chance that the child will inherit the trait from both parents and have the disease, a 50% chance that the pregnancy will inherit the trait from only one parent, or a 25% chance that the pregnancy will not inherit the trait from either parent. An example of autosomal recessive disease is Pompe disease that occurs 1 in 40,000 live births.
Dominant genetic diseases
They are caused by a mutation in one copy of a gene. If a parent has a dominant genetic disease, then each child has a 50% chance of inheriting the disease. An example of a dominant genetic disease is Achondroplasia that occurs in 1 in 25,000 live births.
Sex-linked genetic diseases
They affect males and females differently. This is a smaller set of diseases related to gene mutations on the X or Y chromosomes. One rare disease linked to X chromosome is Fabry disease.
They can occur in any pregnancy. Sometimes these risks are related to the parent's age and involve extra or missing chromosomes. A second type of chromosome abnormality is a change in the structure or organisation of the chromosomes.
These occur due to many complex interactions and combinations of maternal, environmental and genetic influences. In most cases predictive genetic testing is not available for multi-factoral traits, however a family history assessment may provide more accurate recurrence risks.
How can things change?
Although rare disease patients and their families face many challenges, enormous progress is being made every day.
The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies among developed countries in Europe and America, and most recently in Asia. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most "recurrent" ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.
However, the road ahead is long with much progress to be made. Over here in Singapore, the awareness on rare disorders/diseases is relatively low and thus, support networks are very limited.
Many rare disease patients were not covered under Medishield (those born before 1st March 2013) because most of the rare disorders are considered congenital abnormalities. Although the government has recently introduced Medifund Junior to support needy children, some families were unable to receive the assistant because they did not meet certain criterias.
The government has announced the new Medishield Life where all citizens will be covered and they will make healthcare affordable. However, how people living with rare disorders will be supported is not been mentioned. For these people, the support and funding networks are appallingly limited, if not non-existent.
Therefore, our society hope to bring more attention for people living with rare disorders by advocating for a National Rare Disease Plan that create a platform and framework to develop strategies in meeting the following:
1. Raise awareness on rare diseases by educating the patients, parents, caregivers and the general public.
2. Promote burden of illness (BOI) study of rare diseases on patients, families, health professionals and the community. Sharing the information with the general public and government.
3. Advocate the government in partnership with the families and health professionals, for people affected by rare diseases.
4. Increase knowledge about rare diseases that is relevant in the Singapore context among health professionals by providing educational resources and networking opportunities for health professionals.
5. Improve health care for people with rare diseases through timely diagnosis, early intervention, access to drugs and other treatment, improved primary care and specialise services.
6. Develop an umbrella organisation to support people with rare diseases by linking existing organisations to facilitate the peer support networks among rare disease groups.
7. Promote research on rare diseases through collaboration among national and international research partners.
8. Introduction of national rare disease registry.
Amino / Organic Acid Metabolic Disorders
Cell Proliferation Disorders
Heart Pulmonary Disorders
Immune Functions Disorders
Relative Metabolic Disorders
Urea Cycle Disorders
Urinary System Disorders
Some of the rare diseases that are known to have patients in Singapore for are as follows:
Antley Bixler Syndrome
Costello Syndrome (FCS)
Cornelia de Lange Syndrome (CdLS)
Maple syrup urine disease (MSUD)
Methylmalonic Acidemia (MMA)
Pyvurate Dehydronase Complex Dediciency
Spinal Muscular Atrophy (SMA)
Very long-chain acyl-CoA dehydrogenase (VLCAD)
We alone cannot take care of our children forever. But a loving society and a well-established system can. The stories of these children featured are the stories of RDSS. If you're a parent or a family member of a child with Rare Disorders, you can contact us through our website and share with us your story. Together we can increase awareness and support for our children.
If you have any other questions, feel free to drop us a message and we will get back to you as soon as possible. Thank you for visiting RDSS' site.
Alternatively, you could mail in to:
Rare Disorders Society (Singapore)
43 Hindhede Walk #07-08
The Spirit of Volunteerism
We welcome and encourage professionals, caregivers and other members of the public who share our mission to be involved in this project to help patients of Rare Disorders by sharing their expertise.
Contribute for a better future
Yes! I would like to make a contribution for the following amount to Rare Disorders Society (Singapore)
Please issue a cheque payable to:
Rare Disorders Society (Singapore)
and mail it together with this donation form to:
43 Hindhede Walk
*Please do not send Cash.