RARE DISEASE WARENESS 28th February.pptx

Rare diseases are real and life threatening ,but our society is unaware of its menace. Healthcare practitioners need to raise the awareness to reduce those that can be avoided such as sickle cell disease through genetic counselling and early detection.

1. RARE DISEASE WARENESS 28 th F ebruary NR. SAMBO N.M RPON,MSc N,MPH

2. INTRODUCTION DEF: A rare disease is a medical condition that affects a small percentage of people.  Rare diseases are often complex and can affect multiple organs. They can be chronic and progressive, leading to disabilities and premature death. 

3. EPIDEMIOLOGY OF RARE DX Recognizing that a rare disease is often described as a specific health condition affecting 1 in 2000 individuals or fewer in general population, and that there are currently over 7000 known rare diseases impacting more than 300 million people globally, with 70% of these conditions starting in childhood;2 and that, while the frequency of most rare diseases can be described by prevalence, some rare diseases can be more precisely described by incidence

4. SOME RARE DX Kikuchi-Fujimoto disease : An extremely rare disease that causes lymphadenopathy. Gaucher disease: is  a rare genetic disorder that causes fatty substances to build up in the body's organs and tissues. This can lead to enlarged organs, bone pain, and other health problems.  Acromegaly :  Abnormal growth of the hands, feet, and face, caused by overproduction of growth hormone by the pituitary gland .

5. SOME RARE DX Maple syrup urine disease : A rare disease that causes a substance to build up in the urine that smells like maple syrup  Phenylketonuria (PKU) : A rare metabolic disorder that prevents the body from breaking down an essential amino acid  Batten disease : A group of genetic conditions that cause cells to build up waste instead of getting rid of it 

6. SOME RARE DX Transthyretin amyloid polyneuropathy (ATTR-PN ): is a rare, life-threatening, and inherited disease that causes progressive nerve damage. It's also known as hereditary transthyretin amyloid polyneuropathy or TTR-FAP.  Hemophilia: is a rare disorder in which the blood doesn't clot in the typical way because it doesn't have enough blood-clotting proteins

7. SOME RARE DX Transthyretin amyloidosis (ATTR ): is a progressive disease that occurs when the protein transthyretin (TTR) misfolds and builds up in organs and tissues. This buildup of protein deposits is called amyloidosis Sickle cell disease: an inherited group of disorders, red blood cells contort into a sickle shape. The cells die early, leaving a shortage of healthy red blood cells (sickle cell anaemia) and can block blood flow causing pain ;sickle cell crisis.

8. IMPLICATIONS OF RARE DX In addition to the physical impact, some persons living with a rare disease, their families and caregivers may experience discrimination and psychosocial consequences such as isolation, stigmatization, and limited opportunities for social inclusion, which are often intensified by a lack of public awareness and knowledge, and the absence, limited scope or poor implementation of policies and social support

9. IMPLICATIONS OF RARE DX Furthermore recognizing that persons living with a rare disease (including those undiagnosed), their families and caregivers may be psychologically, socially and economically vulnerable throughout their life course, facing specific challenges in several areas, including but not limited to physical and mental health, education, employment, financial well-being and leisure;

10. CARE OF RARE DX Adopting a holistic patient- centred approach to address the needs of persons living with a rare disease is the key, focusing on enhancing their functioning and working with society to remove, to an extent, the barriers they face in accessing health, education, employment and other social domains of life; The high prices of health products for rare diseases, out of pocket expenses and inequitable access to such products within and among countries, as well as the financial hardships associated with their high costs, pose significant challenges for many persons living with a rare disease

11. CARE OF RARE DX Women and children living with a rare disease encounter greater challenges in accessing care, which covers late diagnosis, biases in symptom assessment, therefore reduced access to timely and appropriate treatment, which significantly impact their quality of life and overall health outcomes Recognize the importance of implementing integrated care, considering the health system along with social and community services, for enabling persons living with a rare disease to achieve optimal health and well-being.

12. CARE OF RARE DX Achieving universal health coverage, including for persons living with a rare disease, their families, and caregivers, and that universal health coverage implies that all people have access, without discrimination, to nationally determined sets of essential quality health services, from health promotion to, prevention, treatment, rehabilitation, and palliative care, as well as essential, safe, affordable, effective, and quality medicines, vaccines, diagnostics, health technologies, including assistive technologies, ensuring that the cost of using these services does not lead to financial hardship.

13. Acknowledging that to enhance physical and mental health, well-being, and life expectancy for everyone, it is essential to achieve universal health coverage, including persons living with a rare disease.

14. Challenges of Persons Living With a Rare Disease Reaching the correct diagnosis can take over five years, that many persons living with a rare disease never receive a timely or adequate diagnosis, although nearly half of genetic diseases start in childhood, and that insufficient screening programmes, including newborn screening, and unequal access to diagnostic services, infrastructure and expertise contribute to delayed diagnosis and management

15. SOLUTION TO RARE DX S trengthening diagnostics capacity, which recognizes that diagnostic services are vital for the prevention, diagnosis, case management, monitoring and treatment. Strengthening clinical trials to provide high-quality evidence on health interventions and to improve research quality and coordination C onsider implementing a universal newborn screening programme, including comprehensive screening for congenital disorders

16. SOLUTION TO RARE DX E arly identification can prevent the onset of disease symptoms or delay the progression of both common and rare diseases. Acknowledging the disparity of resources between rural and urban areas within and among countries, the limited availability and geographical dispersion of rare disease specialists and centres of expertise Emphasizing the critical need for global collaboration to tackle the unique challenges faced by persons living with a rare disease, and by their families and caregivers, especially mothers

17. SOLUTION TO RARE DX The implementation of policies and programmes that prevent and combat stigma and social exclusion; accurate data collection; and increased awareness ; in line with countries’ national context and priorities.

18. SUMMARY Rare diseases are characterised by a wide diversity of symptoms and  signs. Due to the   low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Typically disabling, the quality of life of a person living with a rare disease 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 .

19. SOURCES Resolution WHA74.8 (2021). United Nations General Assembly resolution 78/4 (2023) https://www.google.com/search?q=Transthyretin+amyloid+polyneuropathy&oq=Transthyretin+amyloid+polyneuropathy&gs_lcrp=EgZjaHJvbWUyBggAEEUYOdIBCDE0NjVqMGo3qAIIsAIB8QUltKbKG7v_tQ&sourceid=chrome&ie=UTF-8 https://rarediseases.org/rare-diseases/