The Gift of Motherhood

Our Women's Month special features have been incredible, sharing the journey of inspiring women and today is no different. And as a mother of a child that is also unwell I have the utmost respect for KELLY DU PLESSIS the chosen Mother to Juan and Jordyn and the Founding Director of Rare Diseases South Africa. A registered Non-Profit Organization from 2013, assisting all patients affected by rare diseases to access life-saving treatment and supportive care for improved quality of life.

Her son Juan was diagnosed with a rare, progressive neuromuscular disorder at 11 months old, called Pompe disease. She always had the instinct that something was wrong but doctors battled to pinpoint a problem, and it was only as time went on, and the symptoms progressed that they were able to finally diagnose him. As a first time mom, it was exceptionally hard for Kelly and her husband Frans, as they had no frame of reference or any idea of the magnitude of their situation.

When Juan started treatment, Frans & Kelly had a difficult road with the medical aid to get his treatments approved, as this was not yet available in South Africa. "I did not loose hope as every moment counted for him to have a better quality of life. I find the greatest of joy when watching him move or he successfully climbs a stair without falling over, or gets onto the couch with minimal effort, I feel like we are winning the fight!" shares Kelly.

She vowed that all the hardship they experienced has to be used towards something positive and to make sure that someone else would have a better experience. That's how Rare Diseases SA began, a personal desire that would aid in her healing by meeting with other parents and patients.

The organization currently focuses on 3 various aspects of operation being;

1) Patient navigation which is essentially improving the patients journey from presentation of symptoms to end of life,

2) Patient advocacy which is being a united voice for our community and ensuring that service delivery and policies in SA continue to improve the lives of Rare patients, and

3) Community engagement, which involves raising awareness and community engagement.

Megan Hunter who is the Project Assistant & Manages Patient Advocacy for RDSA was first a patient when at her lowest of moments met Kelly, " She opened up a whole new world of possibilities for me. She was committed to ensuring that I would get the best possible care. Her extension of compassion and love is extraordinary and she would do this for anyone that she knows needs her help. She is my greatest inspiration" expresses Megan.

Kelly says, "My journey as a mom has often been very hard, but everyday my son gives me a smile, and I think to myself, if he can still smile, what is my excuse not too".

Lets be mindful of how fragile life is, and don't let the fear of uncertainty immobilize us. Let it lead us to love our children with clarity, joy and profound gratitude.