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Rare Diseases: Are We Prepared to Deal with the Challenges?

Submitted by on September 27, 2013 – 10:27 PM

rare-diseases-1A panel of senior and renowned doctors, seated in the conference room of a tertiary care hospital were amazed at a case that had tested their knowledge, skills and experience, leaving them clueless even after a series of investigations. The grim prospect of watching the patient die in front of them was not letting them give up but sadly it was all they could do. Within a week’s time, the patient had to be removed from life support and the cause of death, as mentioned in the death certificate was a “rare disease”.

 

The above scenario presents a sorry picture of how helpless medical science can at times become against a rare disease and the situation is horrendous both for the patients and their family members. There is nothing more agonizing for a patient and his family than to know that the disease he is suffering from has no known cure. Is the medical world really helpless in such cases or is it because we as health professionals are not armed to combat these rare diseases?? Currently, there is no unanimous definition for rare diseases, however in general, a rare disease, also known as orphan disease (as it is deprived of diagnostic methods, treatment and research work) is any disease that affects a small percentage of population.

 

Nevertheless, a disease may be rare in one part of the world, or in a specific population, but still relatively common in another. The majority of rare diseases are genetic, and therefore they persist throughout an individual’s life. The question arises as to why is it important to focus on rare diseases as long as they are rare? Alistair Kent OBE, Chair of Rare Disease UK rightly states that “The major paradox about rare diseases is that, collectively rare diseases are not rare”.

 

According to an estimate, currently there are around 7000 known rare diseases and disorders, of which only 5% have known treatments; this means that the rest have no cure. Worldwide, an estimated 250-350 million people are affected by rare diseases. More than 50% of rare diseases have no foundations, support groups or advocacy societies.

 

Globally, rare diseases are a cause of mortality and morbidity including crippling deformities. Because these diseases are considered to be rare, they are vulnerable to be ignored by health authorities and misdiagnosed or mistreated by health professionals before they cause substantial damage. Timely diagnosis and proper management of patients inflicted with rare diseases is not only lifesaving and restores the quality of life but it is also cost effective. It is not surprising to know that there is no available data about rare diseases in Pakistan. Some old statistics reveal an extrapolated prevalence of 14,632,016 and incidence of 117,056 in an estimated population of 159,196,3362.

 

During the past few years, some rare diseases which emerged in Pakistan were:

 

(1)Naeglaria Fowleri (also known as the brain-eating amoeba) causing Primary Amoebic Meningoencaphilitis (PAM) which claimed 22 deaths in the southern part of Pakistan within a week in 2012.

(2)Lysosomal Storage Diseases of which 100 cases have been diagnosed in Pakistan to date.

(3) Diastrophic Dysplasia was recently discovered in the mid of this year in a patient from Abbottabad.

(4)Leishmaniasis, a rare skin disease in Pakistan, had an outbreak in Kurram Agency, KPK (formerly N.W.F.P) affecting 738 locals who contracted the disease from Afghan refugees in 2001.

 

Moreover, Wilson’s disease, cystic fibrosis, Huntington’s chorea , Alzheimer’s disease, muscular dystrophies and rare skin disorders including Harlequin Ichthyosisare further additions to this never ending list. We know that there is a dearth of awareness regarding these rare diseases and the need of the hour is to spread knowledge about them in order to prepare ourselves in such a way so that we can limit the dreadful effects of such diseases.

 

World Rare Disease Day created by EURORDIS (Rare Diseases Europe) is an initiative to serve this purpose. It is observed worldwide on the last day of February each year. The objectives of the day are:

– To create mass awareness about rare diseases.

-To represent patients with rare and genetic diseases and their families.

– To ensure access to treatment (by promoting medical research for rare diseases)

 

Apart from this, radical steps are required, particularly at the government level. To start with, an authentic national database about these diseases must be generated, without it the next step is not possible and the issue cannot be addressed. Secondly, the government needs to develop a sound policy in this regard along with its liabilities to the issue. The policy should include global involvement as co-ordination with different countries will serve to provide amplified knowledge and enhance the standards of diagnosis and care.

 

In Pakistan, the majority of these rare cases are encountered in remote areas where even basic health facilities are scarce. It is highly needed to educate doctors and GP’s about these diseases, particularly in these areas so that they can take the right decision in the management of such cases. As these rare diseases are predominantly genetic, it is of utmost importance to publicly highlight the fact that constant inter-cousin marriages are a major cause of genetic mutations which significantly increase the chance of such rare diseases. Another important aspect to cover in this regard is the generation of funds.

 

With the bulk of such cases coming from underprivileged areas and the diagnostic tests and treatments being so expensive, funds are the only resource to manage such cases and at times play the role of first aid. Because of lack of funds, many of the affected families are seen pleading for monetary assistance from the government and public. Finally the biggest challenge is to establish an effective platform for research about these diseases because only research can lead us to the diagnostic tests and treatment strategies of these diseases which still need to be discovered. Extensive research on rare diseases will also reveal new horizons which will enable us to develop new therapies and drugs.

 

The theme for this year’s World Rare Disease Day was “Care for Rare”. Though the year has observed this day, but the theme still needs implementation in its true sense. It is time we start caring!

 

References:

 

Alistair Kent; http://blogs.independent.co.uk/2012/02/29/1-in-17-of-us-will-be-affected-by-a-rare-disease/ http://globalgenes.org/the-rare-diseases-list-you-must-see-it-to-believe-it/

Yann Le Cam and PalomaTejada; European Organisation for Rare Diseases (EURORDIS) http://www.oecdobserver.org/news/fullstory.php/aid/3337/Rare_diseases_:_A_hidden_priority.html#sthash.dKnCRXH9.dpuf

http://www.rightdiagnosis.com/r/rare_diseases/stats-country.htm

ShahidHussain; http://www.thenews.com.pk/Todays-News-4-196553-National-core-panel-formed-to-combat-rare-genetic-disorder

Rashid Javed; http://beta.dawn.com/news/1017290/unique-disease-in-pakistan www.who.int/disasters/repo/7529.doc

About the Author: Muniba Hasan recently graduated in medicine from Karachi Medical and Dental College, Pakistan and wishes to be an endocrinologist in future. She can be reached [email protected]

About this article: This article is competing for the JPMS International Medical Writing Contest 2013

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