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Mother With Pompe Disease Delivers Petition to the Parliament

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Wednesday, October 26, 2016

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WHANGAPARAOA, New Zealand - Samantha Lenik hopes to be an active, healthy mother for as long as possible, but the odds aren't stacked in her favour. Diagnosed with Pompe disease, a rare genetic disorder affecting just 10 other Kiwis, Lenik's muscles are slowly wasting away. With time she will lose independence, her ability to walk, and hopes of remaining active and healthy for her two kids.

Fortunately, there is an enzyme replacement therapy using a drug called Myozyme funded in 76 countries which greatly decelerates Lenik's deterioration. Without it, Pompe ultimately leads to respiratory failure and death. Frustratingly, for Lenik and the 10 other Kiwis suffering from the disease, Myozyme is not funded by Pharmac in New Zealand.

The Stanmore Bay personal stylist and blogger at Styling in the Burbs was diagnosed two and half years ago following ongoing muscle pain and conditioning issues. The news was "devastating". "It was an even harder pill to swallow finding out there is a drug available which is not funded here," she says. Since her diagnosis, Lenik's muscles have further deteriorated, and she now has trouble with walking, core strength and shortness of breath. She remains one of the few Kiwis with Pompe not using breathing assistance for deteriorating diaphragm muscles.

As a mother of two under 10, Lenik's priority is spending quality time with her children, but she worries for a future where her family may have to be caregivers. "I don't want that burden on my family. I want to stay as I am for as long as possible," she says. "There are already times now where I have to say, 'No, mum's too tired today'."

Throughout her journey with Pompe, Lenik says her kids and husband have kept her grounded and positive. "I might have a life threatening illness, but at the end of the day, I'm still walking and breathing, and I am so lucky to have a family to love and support me."

Lenik has campaigned to get the FDA approved therapy funded for over two years, but says rare diseases get "a raw deal" in New Zealand. "There are so many treatments available that we can't get," she says. "Pharmac needs more money to be able to do their job fairly and equitably across all diseases." Lenik will hand-deliver a petition to Parliament on November 15, asking the government to ensure Pharmac receives funding to implement its policy on medicines for rare diseases.

The petition addresses treatments for Pompe, and eight other rare diseases currently not funded in New Zealand. Visit ldnz.org.nz for more information, or head to change.org to sign the petition.

Author: Matthew Cattin
Source: Stuff.co.nz
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3.0 from 5 votes
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