Rare diseases and inclusiveness

Accra, Feb.26, GNA – Rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.

It includes sickle cell, cerebral palsy, autism, epilepsy, hydrocephalus, hemophilia (inability of blood to clot), thalasemmia (absence of adequate haemoglobin), spinal muscular dystrophies, and disproportionate short stature.

Although the exact cause for many rare diseases remains unknown, experts say for a significant portion, the problem could be traced to mutations (changes) in a single gene.

The Rare Disease Day is, therefore, a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with rare diseases.

Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse but united in purpose.

The Day, observed every year on February 28 (or 29 in leap years), as the rarest day of the year, was set up and is coordinated by EURORDIS and 65+ national alliance patient organisation partners, to raise awareness and generating change for the more than 300 million people worldwide living with rare diseases, their families and careers.

According to findacure.org.uk, rare diseases are chronic and cause both visible and invisible disabilities.

Though largely ignored by healthcare, public health and government policies, rare diseases like most chronic diseases, present a huge public health burden to the country but receive less attention as a major public health crisis when compared to infectious diseases.

In general, it is estimated that one in 17 people will be afflicted by a rare disease in their lifetime and at the same time, as many as 7,000 rare diseases exist, with more discovered every year, visualcapitalist.com states.

Much is still unknown about rare diseases in the health community and a frequent misdiagnosis, and up to an average of eight years for an accurate diagnosis, continues to be a problem for patients.

Visualcapitalist.com noted that tech giants like Microsoft are providing digital health solutions to speed up diagnosis, through machine learning and blockchain-based patient registry.

On the other hand, many skeptics question whether the industry is interested in finding cures for rare diseases at all, especially when they account for a significant portion of industry revenues.

Rare diseases and conditions pose a tremendous collective cost burden to every country, likely in excess of $1 trillion annually, according to healthaffairs.org.

Collectively, it explained that rare diseases are as costly as or potentially more costly than many more common chronic conditions, although the lack of a standardised approach to calculating such data makes direct comparison challenging.

Dr. Charles Hammond, a Pediatric Neurologist at the Komfo Anokye Teaching Hospital, December last year, appealed to government for support to reduce misdiagnosis of rare diseases among children at an African Summit on Rare Diseases in Accra, organised by the Rare Disease Ghana Initiative (RDGI).

The misdiagnosis were as a result of inadequate specialists, and the less than five neurological centres nationwide, which made most of the diagnosis, suspected cases, and high cost of seeking true diagnosis.

Apart from misdiagnosis, he said neurologists also had mismanagement challenges rising from uncertain diagnostics and others such as lack of genetic counselors, diagnostic closure, and cultural, traditional and religious beliefs attaching non-medical meanings to condition.

Others are difficulty in dietary modification, non-availability of genetic therapies, and non-availability of enzyme replacement.

Mr Samuel Wiafe, the Executive Director, RDGI, said people with rare diseases needed their concerns addressed with equity in all spheres, including how buildings were designed.

He appealed that Government made technology available for the diagnosis and management of rare diseases and support to cater for the costs.

Mr Wiafe said rare disease care was expensive, however, there was an aspect that was free, such as “showing love, care and attention,” and cautioned against stigmatisation.

“I entreat communities to show an act of kindness, concern and love and let’s all try to make a world that is very inclusive and does not segregate on the basis of disease, for example. I believe that all of us will not be happy that we have a condition and because of the condition, we are treated as unworthy.

“For the fathers who run away from home leaving their children with special condition with the mothers, I will say they are just cowards. I rather congratulate those who stay behind to support in taking care of the children,” he said.

Globally, people are encouraged to support awareness raising on rare diseases by helping to light up monuments and buildings near them or their homes in Rare Disease Day colors (blue, green, pink and purple).

The direct cost burden of rare diseases include inpatient or outpatient care, physician visits, Rx medications and their administration and durable medical equipment, while the indirect cost includes forced retirement, absenteeism, presenteeism (when employees cannot fully function in the workplace), reduction in community participation and volunteer service.

For instance, a child or adult with some form of rare diseases may not be able to work or even fend for themselves, and, therefore need the complete assistance of a family member or someone to cater for them.

In that instance, two or more of the caretakers become non or less productive in the world of work, a situation that affects their cost of living.

Governments also lose huge sums of money to providing healthcare services for people with rare diseases.

This, therefore, calls for a global concern to reduce financial burdens on individuals and nations.

GNA

Rare diseases and inclusiveness

Accra, Feb.26, GNA – Rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.

It includes sickle cell, cerebral palsy, autism, epilepsy, hydrocephalus, hemophilia (inability of blood to clot), thalasemmia (absence of adequate haemoglobin), spinal muscular dystrophies, and disproportionate short stature.

Although the exact cause for many rare diseases remains unknown, experts say for a significant portion, the problem could be traced to mutations (changes) in a single gene.

The Rare Disease Day is, therefore, a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with rare diseases.

Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse but united in purpose.

The Day, observed every year on February 28 (or 29 in leap years), as the rarest day of the year, was set up and is coordinated by EURORDIS and 65+ national alliance patient organisation partners, to raise awareness and generating change for the more than 300 million people worldwide living with rare diseases, their families and careers.

According to findacure.org.uk, rare diseases are chronic and cause both visible and invisible disabilities.

Though largely ignored by healthcare, public health and government policies, rare diseases like most chronic diseases, present a huge public health burden to the country but receive less attention as a major public health crisis when compared to infectious diseases.

In general, it is estimated that one in 17 people will be afflicted by a rare disease in their lifetime and at the same time, as many as 7,000 rare diseases exist, with more discovered every year, visualcapitalist.com states.

Much is still unknown about rare diseases in the health community and a frequent misdiagnosis, and up to an average of eight years for an accurate diagnosis, continues to be a problem for patients.

Visualcapitalist.com noted that tech giants like Microsoft are providing digital health solutions to speed up diagnosis, through machine learning and blockchain-based patient registry.

On the other hand, many skeptics question whether the industry is interested in finding cures for rare diseases at all, especially when they account for a significant portion of industry revenues.

Rare diseases and conditions pose a tremendous collective cost burden to every country, likely in excess of $1 trillion annually, according to healthaffairs.org.

Collectively, it explained that rare diseases are as costly as or potentially more costly than many more common chronic conditions, although the lack of a standardised approach to calculating such data makes direct comparison challenging.

Dr. Charles Hammond, a Pediatric Neurologist at the Komfo Anokye Teaching Hospital, December last year, appealed to government for support to reduce misdiagnosis of rare diseases among children at an African Summit on Rare Diseases in Accra, organised by the Rare Disease Ghana Initiative (RDGI).

The misdiagnosis were as a result of inadequate specialists, and the less than five neurological centres nationwide, which made most of the diagnosis, suspected cases, and high cost of seeking true diagnosis.

Apart from misdiagnosis, he said neurologists also had mismanagement challenges rising from uncertain diagnostics and others such as lack of genetic counselors, diagnostic closure, and cultural, traditional and religious beliefs attaching non-medical meanings to condition.

Others are difficulty in dietary modification, non-availability of genetic therapies, and non-availability of enzyme replacement.

Mr Samuel Wiafe, the Executive Director, RDGI, said people with rare diseases needed their concerns addressed with equity in all spheres, including how buildings were designed.

He appealed that Government made technology available for the diagnosis and management of rare diseases and support to cater for the costs.

Mr Wiafe said rare disease care was expensive, however, there was an aspect that was free, such as “showing love, care and attention,” and cautioned against stigmatisation.

“I entreat communities to show an act of kindness, concern and love and let’s all try to make a world that is very inclusive and does not segregate on the basis of disease, for example. I believe that all of us will not be happy that we have a condition and because of the condition, we are treated as unworthy.

“For the fathers who run away from home leaving their children with special condition with the mothers, I will say they are just cowards. I rather congratulate those who stay behind to support in taking care of the children,” he said.

Globally, people are encouraged to support awareness raising on rare diseases by helping to light up monuments and buildings near them or their homes in Rare Disease Day colors (blue, green, pink and purple).

The direct cost burden of rare diseases include inpatient or outpatient care, physician visits, Rx medications and their administration and durable medical equipment, while the indirect cost includes forced retirement, absenteeism, presenteeism (when employees cannot fully function in the workplace), reduction in community participation and volunteer service.

For instance, a child or adult with some form of rare diseases may not be able to work or even fend for themselves, and, therefore need the complete assistance of a family member or someone to cater for them.

In that instance, two or more of the caretakers become non or less productive in the world of work, a situation that affects their cost of living.

Governments also lose huge sums of money to providing healthcare services for people with rare diseases.

This, therefore, calls for a global concern to reduce financial burdens on individuals and nations.

GNA