When your child suffers from a rare disease

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Durban - Today (February 28) is World Rare Disease Day which focuses on rare or so-called orphan diseases that are overlooked in many countries.

Statistics reveal that this is happens in 20 percent of cases in the European Union today.

Dr Christian Hendriksz, a South African-born authority in the field, based in Manchester, UK, says there are more than 6 000 rare diseases affecting 350 million people worldwide, so it is time for the medical fraternity to sit up and take note.

He is in South Africa for the first World Rare Disease Day and he has a personal interest – as the father of a child with a rare disease, he has dedicated his life to giving hope to fellow parents and patients.

“When this happened with my son, the doctor side of me kicked in,” he explains.

“I branched out from sports medicine to paediatrics and then rare diseases to try to make a difference for other families. A lot of opportunities came my way, and I started focusing and researching Lysosomal Storage Disorders (LSDs) as they make up a large proportion of these diseases. LSDs are the type of rare diseases that are treatable – and this brings me a lot of hope as giving these patients treatment makes a huge difference in the lives of patients and their families.”

Hendriksz believes that awareness is vital when it comes to any of these conditions and he is a key driver and supporter of World Rare Disease Day.

“One of the biggest challenges for parents is when they embark on a diagnostic odyssey, going from doctor to doctor in search of a diagnosis. Unless you’re lucky enough to be referred to an expert, you often hit a wall and that’s that.”

He maintains that the only way for rare diseases to have a foothold in society is through vocal patient organisations, like the Rare Disease Society in South Africa.

“Sadly, unless it’s a real disaster story, the very ‘rareness’ of the illness means that no one is keen to take it up. When you’re told your child has diabetes or cancer, as devastating as the diagnosis may be, you know exactly what lies ahead of you.

“But for a child with a rare disease the future is uncertain due to lack of knowledge, expertise, and, most importantly, resources.

“Yet these patients do exist, they’re here and we are failing them to a great extent. It’s time to make things right. And just because it’s ‘rare’ and treatment may be expensive, shouldn’t mean that these patients’ lives are valued less. In fact, while some treatments are expensive – some cost as little as R500 a year.

“And those that require expensive treatments are so few that the impact on the country’s health budget would be minimal – so why are we letting these children and adults down?

“Treatment is as varied as the diseases themselves, and all that’s required to make a huge difference in these patients’ lives – as is happening in most parts of world – is about one percent of a country’s total health budget.

“While individually these diseases may be rare, and while their symptoms and treatment may be different, they share the same issues and the same frustrations. That’s why it’s vital to push for patient organisations and the creation of centres of excellence where resources can be pooled.”

To this end he is offering his knowledge and expertise to parents and the medical fraternity with the aim of helping people develop policies to assist children with rare diseases in South Africa.

The Rare Disease Society of South Africa is a non-profit organisation initiated by parents with children suffering from LSD (lysosomal storage disorders) to advocate for patients’ rights and create awareness about various life threatening rare diseases (RD).

* Contact Kelly du Plessis at 072 623 6763 or e-mail her at [email protected] or access the website www.rarediseases.co.za. - Daily News

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