What is Rare Diseases South Africa?

Rare Diseases South Africa, a registered NPO, is a voice for vulnerable communities – one that not only provides support for those impacted by rare diseases, but also, advocates for universal healthcare to ensure equitable access for all Rare Disease patients. Founded in 2013, Rare Diseases South Africa brings international best practice and local innovation together in terms of medical intervention and treatment, drives a collective voice for medical advancement and support and advocates the right to medical advice and assistance. Rare Diseases South Africa plays a fundamental role in bridging the gap between vulnerable communities and medical advancement.

What is a rare disease?

A condition is considered rare when it affects 1 person in 2000 according to Eurordis. Currently, South Africa does not have its own definition of a rare disease which is one of the major issues needing to be addressed by government.

How many rare diseases are there?

There may be as many as 7,000 rare diseases, so whilst they are individually rare, they are collectively common.

What are some examples of rare diseases?

Rare diseases are present across the medical spectrum. Some are widely recognised by name, such as cystic fibrosis, while others are less known, such as cat eye syndrome. There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, as well as other body organs and systems.

What causes rare diseases?

There are many different causes of rare diseases. The majority are thought to be genetic – directly caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited. While researchers are learning more each year, the exact cause of many rare diseases is still unknown.

What is being done to develop treatments for rare diseases?

Researchers have made progress in learning how to diagnose, treat and even prevent a variety of rare diseases. However, there is still much to do because most rare diseases have no known treatments.

What are some of the problems people with rare diseases experience?

- Difficulty in obtaining an accurate diagnosis (this can take years, which can be critical for stopping or halting the progression of a disease) - Limited treatment options - Little or no research being done on the disease - Difficulty finding physicians or treatment centres with experience for a particular disease - Paying for treatments that are generally more expensive than those for common diseases - Reimbursement issues related to private insurance and medical aid - Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease - Feelings of isolation and of having been abandoned or “orphaned” by our health care system

I am an HCP treating a patient I think has a rare disease – how can RDSA help me?

RDSA has an extensive healthcare referral network which allows us to connect you with others treating patients with the same/similar conditions. We also have access to numerous educational resources that can be used to better support your rare patient. Please do refer your patient to us too, to ensure that they receive the best support possible.

How does RDSA support HCPs treating rare diseases?

RDSA provides support for HCPs in a number of ways: - Providing of referral mechanism for HCPs to connect with other treating HCPs - Development of advisory boards - Participation and circulation of policy and legislation documents - Council for medical schemes complaints and appeals - Circulation of disease specific guidelines - Hosting of Rare Disease Conference (RareX)

I/A loved one has been diagnosed with a rare condition – what do I do?

If you/a loved one has just been diagnosed with a condition, you are probably feeling very isolated and alone in your journey. You may be scared, and fearful about your future with many unanswered questions. RDSA may not have all the answers, but we are here to support you. Please complete the relevant registration form on the home page, which will provide us with the necessary consent and information required to refer you to the most appropriate support.

I think I/a loved one may have a rare condition – where do I go?

RDSA understands that many of our patient members may not yet have a diagnosis and would like to try our best to refer you to the correct centres for the most appropriate care. Please register as a patient and include a list of your symptoms. When asked “diagnosis” on the form – please indicate undiagnosed. We will then review your information and try to refer you/your loved one to clinics and doctors treating patients with similar conditions and symptoms. Please note: Include as much info as you can in your registration form, as this assists us to understand your situation best.

How can I find a doctor knowledgeable about my/my loved one’s rare disease?

Please register as a patient and include a list of your symptoms. We will then review your information and try to refer you to clinics and doctors treating patients with similar conditions and symptoms. You can also chat to support groups and patients and find out about therapies and treatments which may have worked for relief of similar symptoms. Please note that you will need to opt in to these support groups, and any information you share there will be available to other support group members.

How can I find other people with the same condition as me/my loved one?

We understand that many of our patients would like to connect with others with similar conditions, so we have developed various online tools and support mechanisms to facilitate this. Please register as a patient/care giver/family member via our home page. Once completed, you will receive an automated email which will provide you with various links to our online support groups. Please note that you will need to opt in to these support groups, and any information you share there will be available to other support group members.

Do I/Does my loved one have to be on medical aid to receive support from RDSA?

No. We provide support to ALL patients impacted by Rare Diseases regardless of their medical aid or where they access services.

What happens when I sign up as a member of RDSA?

When you register as a member of RDSA, you will receive an automated email which will guide you on the various support offered and communication methods which are available to you as a RDSA member. Having registered as a member of RDSA you will also automatically be added onto our mailing list and will receive news and updates from us. However, we realise that different members require different levels of support, so we rely heavily on your guidance in terms of your needs personally. If you feel you require more support that the online platforms etc that we have set up, please let us know via email to hello@rarediseases.co.za or via phone call at 010 594 3844. Once you are a RDSA member, you will also have access to our community app. The benefits of this app include: Events and Important Dates calendar Disease specific resources Notice board Secure enquiry platform Access to latest news and advocacy efforts

How can I get involved with RDSA?

Our RARE ACTIVist programme is aimed at all those wanting to assist us in raising funds and awareness for our cause, our patients and ultimately the rare disease community. Be it volunteering at an event, hosting a family day, or partaking in one of our many sporting teams and using your mobility for the advantage of others, there is always a way for you to get involved.

What is a Rare ACTIVist?

A Rare ACTIVIst is an individual who wants to use their mobility to benefit those without it. Events that Rare ACTIVIsts partake in include running, swimming and cycling, as well as fundraising and volunteering.

How do I become a Rare ACTIVist?

The easiest way to become a Rare ACTIVist is to register on the RDSA website. There are many things you can do – run, swim, cycle, fundraise or volunteer. Once you gave registered, you will be added onto our database and will be notified of upcoming events which you can partake in. If you have something novel you would like to do, you can always email us at events@rarediseases.co.za and we will do our best to assist you.

Can I fundraise for RDSA?

Yes, absolutely. We would love to have your assistance with our fundraising efforts. Each year, people across the country host a fundraiser or event to benefit RDSA and help us achieve our objectives. We have created a fundraising toolkit which will assist you in being able to setup your fundraiser for RDSA. You can download this toolkit here.

What are donations used for?

RDSA has various programmes and projects at any given time, all of which align with our objectives of improved navigation, advocacy and engagement. Funds raised are used to support these objectives in a variety of ways, such as:

• Provision of services for rare disease patients
• Implementation of referral pathways for patients
• Maintenance of patient support groups
• Assistance with patient advocacy and case management
• Legislation and Policy Review
• Development of patient educational resources
• Monitoring of service delivery
• Awareness campaigns

How does RDSA support patients?

• They create pathways for patients to successfully navigate reimbursement processes and access to treatment
• Provide a platform to meet fellow patients and provide support if needed when dealing with medical professionals
• Creates awareness of various diseases which hopefully will help the community at large to be more understanding.
• Lobby and advocate with policy makers to ensure equitable access to health for those impacted by a rare disease

How does RDSA support families of patients?

• Connect families impacted by similar conditions
• Hosting of family days and patient mornings
• Providing access to support mechanisms
• Dedicated caregiver events and discussions