Fight to save patients

CONDITION: MOMS TELL ABOUT PLIGHT OF SUFFERERS OF RARE DISEASES

‘In countries like the US there is mandatory screening of babies at birth.’

When her son was diagnosed with a progressive neuromuscular disorder that causes muscle degeneration due to glycogen build-up, Kelly du Plessis knew she had to fight not only for her son, but for others in similar situation.

Juan, 11, was diagnosed with Pompe disease, which makes breathing and everyday tasks difficult, when he was just 11 months.

At the time, treatment for this rare condition was not available in South Africa, which sparked Du Plessis’ personal journey of patient advocacy.

“Now that a treatment is available, no one wants to pay for it because it is deemed too expensive… when it is your only lifeline,” the mother of two said.

Du Plessis, who has dedicated her life and career to furthering the plight of those affected by rare diseases in developing countries, serves on various boards and committees which focus on improving the quality of life for rare disease patients.

In six years, she has taken rare disease policy and patient advocacy to new heights in SA. She has presented at various national and international conferences to raise awareness in terms of treatment for rare disease patients.

Speaking at a virtual awareness discussion ahead of Rare Disease Day on Sunday, the chief executive and founder of nonprofit organisation Rare Diseases South Africa made an impassioned plea to the government to work together to implement a rare disease national strategy.

She said this should include six key priorities; diagnosis, access to treatment, data collection and management, coordinated care and access to services and collaborative research.

“We try to save rhinos and preserve everything that is rare in our country. From protecting rare diamonds and gems, protecting the national protea, to protecting pangolins and developing legislation that encourages the protection of these species. Yet when it comes to rare disease patients, we simply turn a blind eye,” Du Plessis said.

Roxy Burger, 32, mother and media personality, whose daughter Adrienne, one, was born without a thyroid gland and diagnosed with a rare condition called congenital hypothyroidism, called for mandatory screening of newborns.

“I was lucky that I was on private healthcare, otherwise it would not have been picked up. It breaks my heart that in countries like the US, there is mandatory screening of babies at birth when such conditions could be detected and treated early,” she said

If the condition had not been identified by her doctors early, Adrienne could have suffered from various physical disabilities as well as mental retardation.

Adrienne takes daily doses of thyroxine in the form of a tablet, which she says cost about R37.

When it comes to rare disease patients we simply turn a blind eye