Despite advances in science and technology, patients with rare diseases face unique challenges.
This is made worse by the lack of public awareness, coupled with medical professionals’ lack of knowledge, especially at primary level of the disease, as well as the high cost of some of the available medications to treat them.
Prior to International Gaucher Day on October 1, Kelly du Plessis, CEO of Rare Disease South Africa, spoke with IOL Lifestyle about the critical need for greater awareness of rare diseases to encourage early diagnosis.
According to her, Gaucher disease is a condition that arises when a specific enzyme that is necessary for the body to break down fatty substrates and convert them into glucose does not function properly.
Gaucher patients frequently report that they bruise easily, bleed a lot, and experience severe bone pain due to the progressive accumulation of a lipid within the organs, which leads to an enlarged spleen. Very often the spleen has to be removed.
There are currently between 6 000 and 8 000 rare diseases, affecting 350 million people worldwide.
Locally, one in 15 South Africans suffer from rare diseases. The inherited disorder Gaucher, which has a prevalence of about 1 per 100 000 in the general population and affects multiple organs, is one example of a rare condition.
Based on the severity and degree of nervous system involvement, there are three different types of GD.
Type 1 features various blood abnormalities, such as low platelet levels, low white blood cell count and anaemia, an enlarged liver and/or spleen, bone crises and/or osteoporosis, and exhaustion.
Type 2 is the rarest and includes severe brain damage early in life.
Type 3 typically occurs during childhood and ranges in severity: patients have the same symptoms as in type 1, plus some nervous system involvement which results in seizures
While type 1 GD is the most common form of the disease, different symptoms may arise together and may also vary in severity, so GD patients are often misdiagnosed as having other harmful blood conditions.
Early diagnosis, better lives
A genetic test can determine whether you have the disease.
Although there is no known cure for Gaucher disease, there are numerous treatments that can help manage symptoms, avert permanent harm and improve quality of life.
There is a general lack of awareness of the early signs and symptoms of GD among non-specialist doctors.
For example, common illnesses like diabetes or asthma typically have benefits attached to your medical aid risk cover because they have been planned for. Patients with rare diseases struggle more often than not to receive the necessary care.
Due to a genetic make-up difference, for instance, sickle cell disease is quite common in central Africa but is considered rare here in South Africa, du Plessis said.
In one study, one in six patients with GD reported a 7-year or longer delay in receiving a diagnosis after first consulting a doctor.
It is therefore critical that you take note of any unusual health signs and symptoms you may be experiencing and report them to your doctor as soon as possible, as early diagnosis and treatment play a significant role in improving the quality of life for GD patients.
“It’s important to know that even geographically something could be classified as rare in one area but not in another.”
How does one test for GD?
Although GD is rare, doctors should consider testing for rare diseases when other blood disorders have been excluded or when testing for blood diseases.
Monique Nel, Medical Advisor – Rare Diseases at Sanofi, says: “It is vital for patients to get tested early to gain a definitive diagnosis of GD so that treatment may be started to prevent progression of the disease, as well as to improve quality of life.
“However, we understand how difficult it can be for healthcare professionals to diagnose the disease.
“Through our partnership with RDSA and continued educational efforts, the hope is that we can raise greater awareness of GD amongst both potential patients and doctors, so that a timely diagnosis can be made.”
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