It is to raise funds for paediatric Pompe patient, Juan du Plessis.

In line with Pompe Awareness Day on Wednesday, 15 April, the ‘Pedalling4Pompe’ team, titled ‘Team Juan’, consists of family and close friends. The journey ahead aims to raise R100 000 to assist six-year-old Du Plessis with much-needed treatment costs and hospitalisation in the United States where he will be assessed by the Duke Clinical Research Institute in North Carolina.

Du Plessis is the son of founder and chairperson of the RDSSA, Kelly Du Plessis, who has assisted and supported countless rare diseases patients in South Africa, and is hoping that the community and public at large will heed to their own personal call.

Du Plessis showed early warning signs of developmental delay, and at the age of 11 months he was diagnosed with Pompe disease, a progressive neuromuscular disorder that causes the muscles to degenerate due to an accumulation of glycogen, it makes breathing and everyday tasks difficult and is possibly life-threatening.

He was subsequently diagnosed with another rare condition in 2013, similar in nature to Pompe, known as PRKAG2. Due to the fatal combination of both conditions, the decision was made to withdraw his treatment for Pompe, due to the exceptional cost.

After seeing him deteriorate, his parents successfully managed to convince the medical world to reconsider treating him, despite the cost.

Consequently, the Du Plessis’ had to deal with many hardships – both financial and emotional. The first year of treatment saw them out of pocket by R120 000.

Through their own need and trauma, they realised more needed to be done for other families in their shoes, and so they founded the RDSSA in 2012 to assist patients and families affected by rare conditions.

What began as a simple challenge among friends and family to raise awareness of Pompe disease using cycling events throughout South Africa as a platform, Pedalling4Pompe has evolved into a charity arm which seeks to help as many children and adults with rare conditions to receive access to treatment and supportive care for improved quality of life.

2012 was the first year Pedalling4Pompe entered a cycle challenge as a charity bond and despite both being amateurs at cycling and at the fundraising process - they were placed fifth out of the 93 charities in terms of funds raised for the cause.

In 2015, the initiative raised over R100 000 for the RDSSA at the Cape Town Cycle Tour, aiding potential patients with costs associated with diagnosis as well as funding the development of rare disease specialists in South Africa.

Later in the year, Pedalling4Pompe will make a difference by raising awareness for Pompe disease during the Momentum 94.7 Cycle Challenge.

The RDSSA is calling on the general public to pedal for a cause and create awareness about rare diseases and their impact on patients’ lives.

To register, visit www.rarediseases.co.za or for more information, email [email protected].

The public can get involved through various sponsorship and donation programmes and help raise awareness and funds for better care.

Alternatively, connect with RDSSA on their Facebook page or follow them on Twitter.