RARE DISEASE CHALLENGES
Patient’s Perspective.

Rare disease Meet 2019 UAE
PRESENTATION Abstract
By Joyvonne Kwamboka.

primary Hyperaldosteronism Patient.
There are several challenges facing the rare patients, care givers and the health professionals
Lack of diagnosis: Well these conditions are rare therefore most end up undiagnosed due to lack of adequate information and few research centres.
misdiagnosis; This is in the sense that some symptoms end up being confused as the disease itself and also most of these conditions have several and similar symptoms which makes it harder for the patient to get a diagnosis.
Lack of adequate treatment due to lack of access to treatment facilities especially in developing countries where some health facilities are quite a distance.
Orphan drug challenges; Most rare diseases have few drugs to none for the treatment of such conditions. This is due to business minded manufacturers who concentrate on what can sale Visa vie what is available for the rare community.
Economic challenges: These patients run from one health facility to another in search of an answer to their puzzle which is rare therefore they end up financially drained before they even get a diagnosis.
It takes approximately 5 to 15 years to get a proper diagnosis which makes it a great challenge for the patient and their care givers. These leads into emotional challenges which can cause other health problems
Lack of information and support system for such patients becomes a major hurdle in getting a diagnosis which leads to the health deterioration of the patient.
Limited or non existing treatment options due to lack of research and treatment protocols for most of these rare diseases which most often than not leads to loss of life.
Social challenges: These rare diseases makes the patient live in isolation and loneliness which is fatal.We are social beings in nature and this leads to stigma from the community.
Cultural challenges: This is a major factor that is uniquely to the African context that prevents one from seeking for medical care since there are believes that such diseases a curse or have spiritual existence and connections.
Disabilities; These diseases cause both physical and invincible disabilities which robs the patient their independence leading poverty. Theres is a major challenge of lack of preventive and curative therapies for rare diseases due to their rare nature and these mostly affect the developing countries who are in dire help with proper health equipments and facilities to help with research and therefore saving lives.
Lack of rare patient registry is equally a major challenge and we are looking forward to creating more awareness in getting the government involved in developing it.

RARE DISEASE CHALLENGES
Patient’s Perspective.

Rare disease Meet 2019 UAE
PRESENTATION Abstract
By Joyvonne Kwamboka.
primary Hyperaldosteronism Patient.

Rare diseases are health conditions that affect a small percentage of people in the community.
There are over 7000 distinct rare diseases whereby 80% have genetic origin and are Chronic in nature which are challenging fatal and debilitating. 50% affect the children whereby 30% don’t live past their 5th birthday.
There are several challenges facing the rare patients, care givers and the health professionals
1.Lack of diagnosis: Well these conditions are rare therefore most end up undiagnosed due to lack of adequate information and few research centres.
2. misdiagnosis; This is in the sense that some symptoms end up being confused as the disease itself and also most of these conditions have several and similar symptoms which makes it harder for the patient to get a diagnosis.
4.Lack of adequate treatment due to lack of access to treatment facilities especially in developing countries where some health facilities are quite a distance.
5. Opharn drug challenges; Most rare diseases have few drugs to none for the treatment of such conditions. This is due to business minded manufacturers who concentrate on what can sale Visa vie what is available for the rare community.
7.Economic challenges: These patients run from one health facility to another in search of an answer to their puzzle which is rare therefore they end up financially drained before they even get a diagnosis.
It takes approximately five years to get a proper diagnosis which makes it a great challenge for the patient and their care givers. These leads into emotional challenges which can cause other health problems like depression.
8.Lack of information and support system for such patients becomes a major hurdle in getting a diagnosis which leads to the health deterioration of the patient.
9. Limited or non existing treatment options due to lack of research and treatment protocols for most of these rare diseases which most often than not leads to loss of life.
10. Social challenges: These rare diseases makes the patient live in isolation and loneliness which is fatal because we are social beings in nature and this leads to stigma from the community.
11.Cultural challenges: This is a major factor that is uniquely to the African context that prevents one from seeking for medical care since there are believes that such rare diseases are like a curse or have some spiritual existence and connections.
12. Disabilities; These diseases cause both physical and invincible disabilities which robs the patient their independence leading to dependence and poverty.
13. Theres is a major challenge of lack of preventive and curative therapies for rare diseases due to their rare nature and these mostly affect the developing countries who are in dire help with proper health equipments and facilities to help with research and therefore saving lives.
14. Lack of rare patient registry is equally a major challenge and we are looking forward to creating more awareness in getting the government involved in developing the most needed and equally very important registry for rare cases.

RARE DISEASE CHALLENGES
Patient’s Perspective.

PRESENTATION Abstract
By Joyvonne Kwamboka.
primary Hyperaldosteronism Patient.

Rare diseases are health conditions that affect a small percentage of people in the community.
There are over 7000 distinct rare diseases whereby 80% have genetic origin and are Chronic in nature which are challenging fatal and debilitating. 50% affect the children whereby 30% don’t live past their 5th birthday.
There are several challenges facing the rare patients, care givers and the health professionals
1.Lack of diagnosis: Well these conditions are rare therefore most end up undiagnosed due to lack of adequate information and few research centres.
2. misdiagnosis; This is in the sense that some symptoms end up being confused as the disease itself and also most of these conditions have several and similar symptoms which makes it harder for the patient to get a diagnosis.
4.Lack of adequate treatment due to lack of access to treatment facilities especially in developing countries where some health facilities are quite a distance.
5. Opharn drug challenges; Most rare diseases have few drugs to none for the treatment of such conditions. This is due to business minded manufacturers who concentrate on what can sale Visa vie what is available for the rare community.
7.Economic challenges: These patients run from one health facility to another in search of an answer to their puzzle which is rare therefore they end up financially drained before they even get a diagnosis.
It takes approximately five years to get a proper diagnosis which makes it a great challenge for the patient and their care givers. These leads into emotional challenges which can cause other health problems like depression.
8.Lack of information and support system for such patients becomes a major hurdle in getting a diagnosis which leads to the health deterioration of the patient.
9. Limited or non existing treatment options due to lack of research and treatment protocols for most of these rare diseases which most often than not leads to loss of life.
10. Social challenges: These rare diseases makes the patient live in isolation and loneliness which is fatal because we are social beings in nature and this leads to stigma from the community.
11.Cultural challenges: This is a major factor that is uniquely to the African context that prevents one from seeking for medical care since there are believes that such rare diseases are like a curse or have some spiritual existence and connections.
12. Disabilities; These diseases cause both physical and invincible disabilities which robs the patient their independence leading to dependence and poverty.
13. Theres is a major challenge of lack of preventive and curative therapies for rare diseases due to their rare nature and these mostly affect the developing countries who are in dire help with proper health equipments and facilities to help with research and therefore saving lives.
14. Lack of rare patient registry is equally a major challenge and we are looking forward to creating more awareness in getting the government involved in developing the most needed and equally very important registry for rare cases.