Hello, RareZim Family
A warm welcome to our very first blog!!!! 😄
Since this is our first blog post we are going to dive into rare diseases in Zimbabwe🇿🇼 from the perspective of our health care professionals. We did this because information on rare diseases is scarce, they really do live up to their name. They are seldomly mentioned in society.
You might have come across one or two in pop culture as popular romance novels with tragic endings seem to love rare diseases. Have you watched 'Five Feet Apart'? Then you would have come across Cystic Fibrosis. Cystic fibrosis (CF) is a rare inherited disorder that causes severe damage to the lungs, digestive system, and other organs in the body. Cystic fibrosis affects the cells that produce mucus, sweat, and digestive juices. Mucus is normally slippery but people who have cystic fibrosis make thick, sticky mucus that can build up and lead to blockages, damage, or infections in the affected organs. Inflammation also causes damage to organs such as the lungs and pancreas.
What about the movie, 'Everything, Everything'? In this movie, you would have come across Severe Combined Immunodeficiency Disorder (SCID), which is also a rare disease. SCID is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth but are highly susceptible to severe infections
So what exactly are rare diseases?
The Orphan Drug Act defines a rare disease as a disease or condition that impacts less than 200,000 people in the U.S. According to EURORDIS the European Union considers a disease as rare when it affects less than 1 in 2,000 citizens. Unfortunately here in Zimbabwe, we do not have our own definition and there are no official statistics on the number of people with rare diseases in our country. Though we do not have our own statistics there are some organizations out there gathering data on rare diseases to help bridge this gap in our healthcare system. Such organizations include Child and Youth Care Zimbabwe, CYC.
Child and Youth Care Zimbabwe is a registered Zimbabwean-based non-profit organization focused on improving the quality of life of families living with rare diseases. They conducted a small survey aimed to measure the level of awareness of healthcare professionals (HCPs) on Rare Diseases in Zimbabwe. A total of seventy-eight HCPs took part in this survey, the link to the results is provided down below. As volunteers at CYC and to better understand the current situation in terms of rare diseases in Zimbabwe we will take a look at some of the results.
When asked what rare diseases are, 93.6% of all Healthcare professionals in this survey had a positive response. This proves that the HCPs were aware and had a good sound knowledge of the definition of a rare disease, in order to identify patients who may be suspected of having a rare disease. That's great news!
Even though the majority of participants claimed to be aware, only 64.1% of health care professionals agreed that they had come across a rare disease while 35.9 % had not come across any. This could be a result of the rarity of the disease or a lack of awareness of the disease and an eventual misdiagnosis. This shows that there are still disparities in our healthcare system. More awareness campaigns and seminars on rare diseases are encouraged in order for more HCPs to be able to help in the recognition, diagnosis, treatment, and care of rare diseases. As for us medical students, a stronger background in rare diseases is very essential! These topics should be addressed in lectures and more emphasis should be made on some conditions common in Zimbabwe even though they are rare. We are the future and as such, we must prepare for the future and work towards being competent doctors even though, sadly it means more reading yaaay.
Of the 64.1% of HCPs that came across rare diseases, 74% have taken care of patients with rare diseases. This conveys that 26% of HCPs that came across rare diseases did not treat their patients. This might be a result of limited knowledge of rare diseases concerning appropriate treatment and care for patients. Care pathway guidelines and disease management workshops can be a possible plan of action to address this gap in our country. In Western countries, such as Britain, some diseases are screened at birth and therefore treated earlier, giving their patient a greater chance of survival. Although Western countries have better resources for screening to help with diagnosis, due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings are inadequate and research is limited.
"Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research." ~ EURODIS
Most HCPs asserted that the healthcare system, both private and public, does not support individuals living with rare diseases. There is an urgent need to lobby for policymakers to include rare diseases in the health care policy in order to improve the support that the rare disease community gets. There is also a need for more research and investing in equipment that is used for the diagnosis of rare diseases in Zimbabwe.
More specialist training in Genomics is essential and as future medical practitioners, it would be prudent for some of our fellows to take the path into Genetic Medicine. 72% of all rare diseases worldwide are genetic, making Genetics the future of medicine!
Due to the lack of support, 96.1% of HCPs claim that the healthcare system is not adequately resourced to manage rare diseases. Even though we are poorly resourced there is a need to capacitate the hospitals in order to improve the health delivery system of patients living with rare conditions. The Ministry of Health and Child Care (MHCC) could also engage with international organizations for rare diseases such as National Organization for Rare Disease, NORD, and Rare DIsease International, RDI, to get donations for medication and screening equipment. Liaising with international organizations could also mean more opportunities for us HCPs to attend seminars and conferences to enrich our knowledge of rare diseases.
94.9% of HCPs who participated in this survey acknowledged that they would like to broaden their knowledge about rare diseases. Therefore HCPs are willing and committed to learning more about rare diseases and as such would greatly benefit from future seminars and conferences on this topic. In this way, there is a need to capacitate activities to encourage, bring together, and share information and spread awareness among HCPs about rare diseases.
In conclusion, this survey’s main aim was to measure the level of awareness of health professionals about rare diseases in Zimbabwe. This aim was achieved and successful in that they managed to gather important data through the questions that were posed. It also brought to light some of the challenges HCPs are facing in terms of recognition, diagnosis, and management of rare diseases in our country Zimbabwe.
Hopefully, after reading this blog you now have an idea of what encompasses the mysteries behind rare diseases. We hope that you can appreciate how rare diseases are neglected in our healthcare system. Some of the rare diseases that HCPs came across include Xeroderma PIgmentosum, Congenital Adrenal Hyperplasia, Galactosemia, Gaucher Disease, and Fabry Disease to name a few.
If you found this blog interesting we would love to welcome you to the RareZim family by becoming a member. As you stay tuned, we will explore together some of these rare diseases in Zimbabwe from the perspective of the patient and the healthcare providers.
Thank you for your time, until next time…
With Love from your RareZim Medics
Tari and ChiChi
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