Did you know that February 29 is Rare Disease Day? Morehill resident Janice Strydom (50), a rare disease sufferer, enlightened us on this annual observance and the Rare Disease South Africa organisation.
It is quite rare to hear the word hereditary angioedema (HAE) and that is because the condition is a rare disease.
Rare Disease South Africa aims to raise awareness, promote support and reduce the stigma for people living with rare conditions.
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There are about 3.7 million South Africans affected by rare diseases, and Strydom has made it her mission to support and educate those with rare conditions.
She explained that the Rare Disease Day is observed on February 29, and this is the seventh year that South Africa has participated in the observance of the day.
Strydom was diagnosed with HAE in 1992, which is caused by a lack of a protein inhibitor in the blood.
It causes swelling in any part of the body, including the throat, which can lead to asphyxiation.
Strydom is one of 79 rare disease ambassadors who are each representing their own disease in the national organisation.
She had her first attack of the disease when she was 15 years old. She struggled for seven years to get a diagnosis.
“HAE affects about one in 50 000 people.
“There are currently only 92 patients diagnosed in South Africa, but because the symptoms are often mistaken for an allergy, many patients are undiagnosed.
“The disease is hereditary. and there is a 50 per cent chance of a parent passing it on to their child.
“My grandmother passed it on to my father who in turn passed it on to me and my brother but, fortunately, my two children, Cassidy (24) and Shelby (20), did not inherit it from me.
“However, my brother, who has twins, has passed it on to his daughter,” said Strydom.
Strydom didn’t meet another HAE sufferer until 25 years after she was diagnosed.
When asked how the disease has changed her life, she said because it is such a rare disease, visits to the emergency room were frustrating and scary.
“Swelling in the airway can be fatal and most doctors have never seen a patient with HAE.
“I struggled to get them to listen to me.
“Although I had a diagnosis, I had very little information on the disorder, no emergency medication and no support.
“In 2017, an HAE South Africa support group was formed and our first meeting was in Cape Town where I met other patients for the first time.
“In May 2018, I attended the HAE international conference in Vienna along with six other patients from South Africa, which was attended by about 700 patients, caregivers, medical professionals, policymakers, researchers and pharmaceutical companies from all over the world.
“We are attending the HAE international conference in Frankfurt in May, along with 11 other South African patients, to catch up on the latest developments and treatments,”she said.
A mother of two, she said meeting other patients, and having the exposure to international knowledge of HAE has been invaluable in helping them raise awareness of HAE in South Africa.
“We have two doctors in Cape Town who dedicate a lot of their time to helping us, and we now have access to a couple of the emergency treatments which we are importing from overseas.
“I enjoy being a rare disease ambassador because the support group fights for advocacy and empowerment, to bridge the gap between vulnerable communities and medical advancement for improved quality of life, as well as educating the public.
“While parents dedicate a lot of time teaching our children about rare diseases to integrate with society, little time is spent teaching their communities to understand and accept them in return.
“Support is crucial in helping patients to start the process of accepting their diagnosis, and living their lives normally, and someone has to speak for us and there is nobody better than another rare disease patient to do it,” she said.
This year the organisation marks Rare Disease Day with the annual #DenimWalk at the Walter Sisulu Botanical Gardens.
Gates will open at 4pm and the event starts at 7pm.
Participants are encouraged to wear denim and their funkiest neon gear.
You can bring your headlamp or torch, and take on one of two routes – the wheelchair-friendly 1.5km or the 2.5km route.
Tickets can be bought on Quicket at R100 per adult, R65 for teens and pensioners and R50 for children under 12. There is no charge for children under two.
For more information contact Strydom at janicestrydom123@gmail.com or visit the organisation’s Facebook page: Rare Diseases South Africa or email hello@rarediseases.co.za
About Rare Disease Day
A patient-led campaign, Rare Disease Day was launched by Eurordids and its Council of National Alliances in 2008 and brings together millions of people in solidarity.
There are over 7 000 rare diseases affecting 350 million people wordwide. Medical expertise and knowledge on rare diseases is scarce and scattered across borders. People often wait years for a diagnosis and struggle to access the medicines and care they need.
In line with this year’s theme, Reframing Rare, Rare Disease Day 2020 is an opportunity to be part of a global call on policy makers, healthcare professionals and care services to better coordinate all aspects of care for rare disease patients and families, and dispel the myths and misconceptions around rare diseases.
Individuals and families directly affected by rare diseases, caregivers, medical professionals, policy makers, companies, researchers and members of the public, can get involved and show support for the global rare disease community by:
• Purchasing a Rare Disease ribbon for R10.
• Joining the #DenimWalk on February 29.
• Get educated on various rare disease facts by following the #ForFactsSake campaign on their social media platforms throughout February.
• Donate to RDSA NPC at www.rarediseases.co.za/donate
For more information go to rarediseases.co.za
