A Mother’s Instinct, a Rare Diagnosis, and the Fight for Fair Access.

This Mother’s Day, Rare Diseases South Africa honours the caregivers whose persistence, instinct, and advocacy change outcomes — not only for their own children, but for the rare disease community as a whole.

Hunter and Olivia’s story is one of those stories.

When Rare Disease Becomes Personal

Many families affected by rare diseases begin their journey believing, “This won’t happen to us. "Hunter and Olivia’s parents were no different.

They were a healthy family. Rare disease felt distant — something that happened somewhere else, to someone else.

Until Hunter was eight months old and developmental delays began to surface.

What followed was a 16‑month diagnostic journey — one shaped by long waiting lists, conflicting opinions, and the emotional toll of uncertainty. Specialists raised possibilities such as cerebral palsy and muscular dystrophy. Other voices dismissed the concerns altogether, suggesting Hunter was “just a boy” and that boys often develop more slowly.

But his mother, Carla, remained unconvinced.

From an RDSA perspective, this moment is familiar. Parents are often the first — and sometimes the only — advocates pushing for further investigation. In rare disease, caregiver instinct is not emotion; it is evidence.

The Role of Partnership in Reaching a Diagnosis

At two years old, Hunter was diagnosed with Late‑Onset Pompe Disease (LOPD) — a rare genetic condition caused by a deficiency of the acid alpha‑glucosidase (GAA) enzyme. This deficiency leads to glycogen accumulation in muscles and organs, resulting in progressive muscle weakness. Pompe Disease affects approximately 1 in 40 000 people worldwide.

It was a diagnosis the family had never heard of — a reality shared by many rare disease families.

Once the diagnosis was confirmed, collaboration became critical.

Specialists listened. Testing was expedited. A multidisciplinary medical team mobilised quickly.

Hunter began Enzyme Replacement Therapy (ERT) every two weeks — a lifelong, specialised treatment that has significantly improved his outlook. Pompe Disease is not curable, but it is treatable, and early intervention makes a profound difference.

This is what Stronger Together looks like in rare disease care: when healthcare systems respond, when professionals collaborate, and when parents are treated as partners rather than obstacles.

Early Knowledge Changes Futures

Through further genetic testing, Hunter’s family learned something unexpected but life‑altering: Olivia has the exact same genetic form of Late‑Onset Pompe Disease.

She is currently asymptomatic. Many individuals with LOPD only develop symptoms decades later. Because testing was pursued for Hunter, Olivia now has the advantage of early monitoring and proactive management.

Today, Hunter (3) and Olivia (6) are two of only 14 diagnosed individuals with Pompe Disease in South Africa.

For Rare Diseases South Africa, this highlights a vital truth: early diagnosis doesn’t just answer questions — it reshapes futures for entire families.

Oliva and her brother, Hunter,

Honouring Mothers, Building Strength Together

Life with a rare disease is shaped by constant coordination, vigilance, and quiet resilience. For Hunter, this includes regular Enzyme Replacement Therapy, ongoing treatment approvals, and multiple therapies. For Olivia, it means careful monitoring alongside a joyful, typical childhood — guided by early knowledge. Behind every appointment and decision is a caregiver, most often a mother, managing schedules, advocating with funders, coordinating specialists, and carrying the emotional weight of uncertainty. As families remind us time and again at Rare Diseases South Africa, rare disease care does not end at the clinic door — it lives in homes, daily routines, and unwavering commitment .

This Mother’s Day carries special meaning for Rare Diseases South Africa as we also mark 13 years of advocacy, awareness, and partnership. For more than a decade, RDSA has stood alongside mothers and caregivers whose instincts drive diagnosis, whose persistence challenges systems, and whose love holds families together. Equity in rare disease care means being heard sooner, accessing diagnosis earlier, and receiving treatment regardless of how rare a condition may be. When mothers, healthcare professionals, advocacy organisations, and systems work together, progress becomes possible. As we honour caregivers this Mother’s Day — and reflect on 13 years of collective strength — we are reminded that in rare disease, we are truly stronger together.