Real Life

Kiwi mum’s fight for medical treatment

This mum-of-two is suffering from a rare disease, and is campaigning to have her treatment funded.

If anyone had told Samantha Lenik 10 years ago she would one day be a passionate advocate for medicines for people with rare diseases or disorders, she’d have thought they were crazy – until she was diagnosed with one herself.

The 42-year-old mother-of-two says the news came as a bolt from the blue, as she assumed her body was just taking time to bounce back from the birth of her children, Kaelin (9) and Sienna (7).

“After my first pregnancy, I just couldn’t seem to get back to the condition I was in before,” she tells. “I’ve always been really active but I noticed at the gym that I was having trouble keeping up.”

Her second pregnancy left Samantha, who lives on Auckland’s Hibiscus Coast, feeling more weary and a little clumsy at times.

“At exercise classes, I had begun to stumble and fall but I still told myself it was just the result of having two babies,18 months apart, and the stress of being a military wife.”

When her husband Stephen, a naval commander with the Royal New Zealand Navy, was posted to the United Kingdom for a year in 2012, Samantha – who is originally from England – and the children went with him.

“I wasn’t working and I wanted to take it as a chance to get back into shape, but deep down, I was beginning to feel that something was seriously wrong,” she recalls.

It was a physiotherapist Samantha was seeing who raised the alarm.

“She said that while I was clearly working hard, my muscles simply weren’t keeping up. I knew that she was right, yet I just put it down to having a weak core.”

Finally, a GP ordered tests and the diagnosis was Pompe – a debilitating, progressive disease that causes muscle weakness and, because it affects the diaphragm, often results in breathing difficulties and eventually death.

“It was a bittersweet moment. At last I knew that what I’d been feeling wasn’t just in my head, but I was devastated and frightened,” says Samantha.

Not surprisingly, when she learned how unusual the disease is, she turned to the Internet to try and find more information and to seek out other sufferers.

She only found 10 others with Pompe in New Zealand and it soon became apparent the condition itself wasn’t the only thing they had in common.

“I discovered the enzyme replacement therapy that had been clinically proven to work for sufferers in 76 other countries wasn’t funded here and we were all being denied life-saving treatment.”

During the therapy, a drug called Myozyme is infused into a vein and replaces an enzyme missing in those who have Pompe, which is essentially a glycogen storage disorder.

Shocked at what she’d found, Samantha campaigned to have the therapy funded. When her local MP stopped taking her calls or replying to emails, she reached out to the Minister of Health and the Prime Minister, to no avail.

“They tried to tell me there was insufficient evidence that it worked but that’s just not true. If it was, why would so many other countries fund it?” she asks.

While she tries not to let her children worry about her, the youngsters picked up on the fact that their mum was unable to access the therapy.

“One day, Sienna asked if Santa would bring the medicine if she put it on her Christmas list,” says Samantha. “It was so sweet.”

Realising she was thinking about health issues all the time and that her own Pompe was – luckily – progressing relatively slowly, Samantha knew she needed to take her mind off it, keeping herself busy while Stephen was at sea. So she started a fashion blog.

“I’ve always been passionate about style and my friends would ask me for advice, so this is the result,” she tells. “I love it because I get to go shopping!”

Unfortunately, though, Pompe still continues to take its toll on Samantha’s health and she feels anxious for her family.

“I tell the children that I’m fine but my legs just don’t work as well as other people’s. I know Stephen worries when he’s off-shore, although his family and my girlfriends have all been incredibly supportive.”

Still longing to experience the results of enzyme replacement therapy and unhappy that a fund set up by the government for the treatment of rare diseases doesn’t appear to have changed the status quo, Samantha is campaigning again, with a petition set to be presented to the House of Representatives in November.

“I’m not going to give up and I work hard at keeping focused,” she says. “I get frustrated when an old lady beside me at aerobics is better and faster than I am but I’m still walking, breathing, and I’m determined to make the government and Pharmac sit up and take notice.

“Those of us with rare diseases deserve much better than this.”

See Samantha’s blog at stylingintheburbs.co.nz.

Words: Louise Richardson

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