Children of woman with rare disease ask Santa for 'mummy's medicine'

Two Kiwi children whose mother is fighting for life-saving treatment have asked Santa for "mummy's medicine" this Christmas.

Samantha Lenik of Orewa has Pompe, a rare and ultimately fatal disease which leads to progressive muscle weakness, wheelchair dependence and breathing assistance.

Lenik, who today presented a petition to Parliament calling for Pharmac to receive more funding for treatment of rare diseases like hers, said reading her children's wish list this year was heartbreaking.

The petition had been tabled and accepted and would be announced by the speaker of the House at 2pm today.

"If I could have treatment it would be many, many more Christmases with my children and my family.

"This year it broke my heart to see one of the things on my child's list was mummy's medicine."

Pharmac released a request for proposals in August 2014 in an attempt to give people with rare disorders more access to funded treatment.

The government agency had since reached six agreements with suppliers to fund treatments for rare disorders from this process.

Nine medicines were approved from those agreements.

On December 1 Pharmac announced funding for three further rare disorders treatments, including Myozyme for infantile-onset Pompe Disease.

"It's fantastic news because if a child is born with Pompe and they don't get treatment they die in the first year," Lenik said.

"But it's a bit of a blow to adult patients."

Lenik is one of just 11 adult sufferers of the disease in New Zealand, and there are no current cases of infant Pompe.

Pharmac has been given $25 million for funding over five years, however Lenik said this was not to properly implement its proposal policy.

A month ago, she and other rare diseases groups launched a petition, which they have today presented to Parliament.

"Pharmac's new policy on funding treatments for rare diseases is not a perfect one, but it was a huge step in the right direction.

"But since it was announced over two and a half years ago, there has been very slow progress in implementing the policy.

"Pharmac was starved of funds in budget restrictions, and then failed to give any urgency to putting this policy in place. Only a tiny number of rare disease patients have gained new access to treatments."

Lenik handed her petition, which has nearly 3000 online signatures, to her local MP Mark Mitchell at Parliament just after noon today.

"We're asking for Parliament to urgently review the policy for Pharmac."

Treatment for Pompe was funded in 76 countries and there was solid evidence it worked, Lenik said.

Being given access to treatment would be life-changing for the mum-of-two.

"It would be amazing and the best Christmas present ever.

"I'm one of the lucky ones I'm not in a wheelchair, I don't have to have breathing machine at night time but there are other people in NZ who do have that and need treatment."

Sarah Fitt, acting chief executive of PHARMAC said the company was running a pilot to improve access to medicines for people with rare disorders, by creating competition amongst suppliers.

Provision has been made for $25 million over five years for funding such medicines, with more funding ongoing after that.

"PHARMAC has made significant progress in providing improved access to nine medicines, and attracting a number of new suppliers to New Zealand. These funding decisions benefit a very small number of patients due to the nature of rare disorders themselves.

"A further decision on one more medicine is anticipated before the pilot is completed. Once the final decision is made, PHARMAC will then evaluate the pilot and share these findings before making any decisions on future plans."

"PHARMAC is committed to providing full funding for the rare disorders pilot within the annual budget, regardless of the level at which the budget is set."