Our lived experience shows why children without matched donors cannot wait another decade for curative options.
When our daughter’s diagnosis was confirmed on a cold Tuesday afternoon thirteen years ago on a call with the genetic counsellor, the sinking feeling I had been carrying finally settled in the pit of my stomach. Two months earlier, the nurse who performed her heel‑prick test to screen for sickle cell disease had assured us that everything looked fine. Yet I remember noticing their unfamiliarity with the electrophoresis test when I asked about it, and that doubt stayed with me.
I had heard the saying “a mother knows” many times before, and in that moment, the unease I’d felt since that heel prick could no longer be ignored. I was terrified. I sobbed while watching my sweet baby sleep peacefully in her cot, completely unaware of how this diagnosis would shape her life. I didn’t fully understand it myself. All I could think about were the few people I had known or heard of who had passed away far too early.
In my desperation for answers, I fell into the rabbit hole of online forums — searching for reassurance that never came. Instead, I found countless stories of despair from parent caregivers and adult warriors who had lived with sickle cell disease for decades, often with limited treatment options and outcomes that hadn’t improved their lives. Many spoke about Hydroxyurea — the only available drug for so long — and their fears about side effects, including cancer. Those concerns influenced our decision to delay using it. It wasn’t until a severe chest crisis landed our daughter in the hospital that we reconsidered – thankfully, we saw her health improve significantly.
As I cycled through the first four stages of grief — denial, anger, bargaining, depression — sometimes all in one week, one prayer stayed constant: that one day my daughter would have access to a cure, or at least a treatment that could make sickle cell a story of her past. Journeying through these stages was especially hard when an ordinary morning or evening would suddenly change because she was unwell. For a long time, we kept a special hospital bag packed and ready to go in the boot of the car, for an inevitable trip to the emergency department after consulting with her haematologist.
There were moments when it felt like science was leaping forward — hello CRISPR Cas9, and yes, I became a full Jennifer Doudna admirer — only for progress to stall again due to safety concerns, halted trials, or challenges in drug development. These highs and lows shaped the vision I hold for the life I want my daughter to live. The lows would heighten the despair I felt when a complication came earlier than expected. Imagine trying to bargain with fate about which complication you’d rather face first – pain, fever, or something more frightening.
Now, as she enters her teen years, the recent advances in gene therapy and the growing global investment in treatment options give me more hope than I have ever felt. For children like mine — who do not have a compatible bone marrow donor — gene therapy represents not just innovation, but possibility. A chance at a life not defined by pain, unpredictability, or fear.
In Australia, where curative options are limited, gene therapy is an opportunity to improve public health outcomes and offer equitable access to treatment.
I’m realistic about the barriers that remain: cost, chemotherapy conditioning, and the unknown long‑term risks. But for the first time, it feels like multiple groups — scientists, clinicians, advocates, policymakers — are moving in the same direction, determined to improve the lives of sickle cell warriors.
For my daughter, access to gene therapy would mean something beautifully simple: a predictably *boring* life. No sudden, debilitating pain crises. The ability to get travel insurance and finally visit Hawaii. A reduced risk of complications and organ damage. A future where she can plan her life without the shadow of sickle cell dictating every decision.
For thirteen years, my daughter and I have been standing at the gate of a long, narrow, winding road. Today, I can finally see the road widening because so many people — scientists, advocates, clinicians, and families — have refused to give up. The door is finally coming into view on the horizon, and for the first time, it feels within reach.
By Nathalie Kapuya – Caregiver, ASCA CO-Founder