Rare disease patients looking in from the outside

03 Mar, 2023 - 00:03 0 Views
Rare disease patients looking in from the outside

eBusiness Weekly

Blood cancers, hypertension and diabetes are diseases we’ve all heard of, but what about those we haven’t and what does it mean for effective treatment?

To collectively raise awareness for vulnerable rare disease patients who are frequently under-recognised and under-represented, awareness surrounding the rare disease is a critical opportunity to bring together all stakeholders, including patients, families, care partners, health-care professionals, researchers, clinicians, policymakers and the general public.

Rare diseases are frequently misunderstood, and some patients endure years of uncertainty, which may be stressful on the body, mind and finances. This is what patients with rare diseases frequently go through during their “diagnostic journey”, says Kelly du Plessis, the founder and CEO of the patient advocacy group Rare Diseases SA.

What causes rare diseases?

There are several types of rare diseases. Most are believed to be brought on by chromosomal or genetic abnormalities, some of which are passed down from one generation to the next, while others appear out of the blue in a person who receives a diagnosis for the first time in their family.

How are rare diseases categorised as rare diseases?

If fewer than one in 2 000 people are affected by a disease, it is considered to be rare. More than 300 million individuals worldwide are impacted by the more than 7 000 uncommon diseases that are known to exist.

The exact cause of some rare diseases is unknown. Not all rare diseases, including infections, some rare cancers and some autoimmune diseases, are inherited.

Examples of rare diseases

Cystic fibrosis, Crohn’s disease, Duchenne’s muscular dystrophy, Gaucher disease, Fabry disease, and Hunter syndrome, also known as mucopolysaccharidosis type II, are a few examples of uncommon diseases that are more well known.

Tackling the challenges of rare disease diagnosis and treatment

Rare Diseases SA has made great strides in advocating for rare disease patients, but the healthcare system in SA faces significant challenges such as a lack of research and data, clinical trials, high prices, and mechanisms to escalate product registration.

“We need a Rare Disease Policy to be recognised and enforced in SA, and we
need the National Treasury to assign a budget to treat these patients,” says Kelly du Plessis, the founder and CEO of Rare Disease SA.

Du Plessis adds that people shouldn’t think everyone will be informed about their specific rare disease.

“It must be realised that local medical professionals may be unfamiliar with or underprepared to treat unusual diseases.”

Further: “We would like to see improvement in their knowledge of the following three areas: the existence of rare diseases, the effects these have on patients and where to refer a patient who they suspect may have a rare ailment. The diagnostic ordeal that patients with uncommon diseases go through would be much improved if we can check off these three boxes.”

Collaboration with various stakeholders is vital for assisting researchers and physicians in better managing and understanding diagnostic possibilities for patients with rare diseases, says Monique Nel, a medical adviser of rare diseases at Sanofi.

Sanofi’s rare-disease patient registries represent one of the largest collections of real-world data for rare diseases amassed over the past 30 years. It has a presence in 65 countries, with more than 920 participating sites and more than 18 000 patients enrolled.

“These registries assist researchers in publishing the most recent data on actual results, displaying cutting-edge treatments and ongoing research for persons with rare diseases,” says Nel.

Sanofi also has a Rare Humanitarian Programme, which has been running for 32 years and provides humanitarian support to people living with rare diseases.

If you or a loved one is suffering from strange or unexplainable signs and symptoms, speak to your health-care professional. South Africans living with rare diseases could have extended and improved lives by taking this first step toward diagnosis and treatment. — IOL Health

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