Samantha Lenik

I was diagnosed 12 years ago. Over that time, my mobility has declined relatively slowly, largely because I was fortunate enough to access International Compassionate Access Programme for the treatment I needed, Enzyme Replacement Therapy ERT. I try not to dwell on where I might be today if that opportunity hadn't been available to me.

While I consider myself lucky that I still walk with a stick and do not yet need breathing assistance, living with a condition that isn't always visible can be challenging. Because I look relatively able-bodied, it can be difficult for others to understand what day-to-day life is really like. Many of the things people take for granted, going to work, exercising, or even doing the supermarket shopping, can require a significant amount of energy. Some days, I have to carefully plan and prioritise, knowing there is only so much I can physically manage before my body reaches its limit.

When I'm going somewhere unfamiliar, there are always additional considerations. Will there be stairs? I can still manage them, but not without difficulty. Will I need to stand for long periods? Even a short time on my feet can leave my legs aching and throbbing. Something as simple as walking through a shopping mall or along a busy street requires constant concentration. I must watch where I'm placing my feet and stay focused on the ground ahead to avoid tripping.

I know how fortunate I am. I know that without access to ERT, I may well be using a wheelchair by now or requiring breathing support. While my mobility is limited, I am still walking. I am still breathing independently. Most importantly, I am still here, able to share life with my family, and for that I am deeply grateful.

The medicine is incredibly important in fighting the deterioration of muscle wasting. It stabilizes or slows the progressive loss of skeletal muscle strength and pulmonary (lung) function, helping patients maintain walking ability and breathing capacity longer.

Treatment for Pompe is only funded for infantile onset-Pompe disease. Diagnosed under 24 months.

Around the world, at least 76 countries fund ERT for people living with Pompe disease. New Zealand spends only 4.9% of its public health budget on medicines, which is nearly three times lower than the OECD average of 13.3%. When will the government see the value in increasing this spend. In funding medicines that extend independence, quality of life, and give people like me the opportunity to continue contributing to our families, communities, and workplaces.

Without ERT, I genuinely believe my life would look very different today. After 12 years of living with Pompe disease, I believe I would likely be reliant on a wheelchair and breathing assistance. Instead, ERT has helped slow the progression of my disease and enabled me to maintain a level of independence that many people may take for granted.

To access this treatment in the first place, I had to enrol in a clinical trial in Australia. For three years, I travelled from Auckland to Adelaide every two weeks, leaving my young family behind for four days at a time. I would do it all again in a heartbeat because that treatment has given me precious time with my family, I have been able to continue working, contribute to my community, support my family, and live a relatively normal life. Perhaps just as importantly, I have been able to remain independent and have not needed the level of healthcare support that would likely have been required had my condition progressed more rapidly.

I am deeply grateful for the opportunity I was given, but no one should have to rely on good fortune to access a treatment that can make such a profound difference to their quality of life, independence, and future.