Kelly puts rare diseases in the spotlight

She founded the Rare Disease Society of South Africa, a registered non-profit organisation that assists patients and families affected by rare conditions.

The organisation was borne out of necessity. Kelly and her husband Frans’s first child, Juan showed early warning signs of developmental disorders and at the age of 11 months he was diagnosed with pompe disease.

Pompe disease is a progressive neuromuscular disorder, caused by the buildup of a complex sugar called glycogen in cells. The accumulation of sugar in certain organs and tissues, especially muscles, impairs their ability to function normally.

Since the diagnosis the family has suffered emotionally and financially. The first year of treatment cost R120 000.

The Du Plessis’s realised more needed to be done for other families in similar circumstances and so last year they founded the organisation.

Juan has been in and out of hospital, has undergone several operations, suffered cardiac arrest, and has even flat-lined for a few minutes before being resuscitated. Although he is not mentally impaired, the family battled to find a pre-school that would register Juan with his physical conditions. Luckily, Buttercup Pre-school in Lonehill welcomed their son with open arms.

During the month of February the society will raise awareness about rare diseases and the impact on patients’ lives.

The 28 February marks Rare Disease Day.

Details: info@rarediseases.co.za or visit www.rarediseases.co.za