National Health Service refuses medication that helps with rare Pompe disease for Scottish woman

From The Daily Record in the UK:

Walking, climbing stairs, bathing and simple household tasks are very difficult for single mum Lynn Millar... she is one of a handful of Scots with Pompe disease.

If Lynn, 42, does not take the drug which eases the incurable muscle-wasting condition, she will be confined to a wheelchair and need round-the-clock oxygen.

But she is determined not to let her illness hold her back in her career and continues to work full-time as a supply chain team leader with Spirit Aerosystems, a job she's been in for 26 years.

When she is not at work, Lynn, from Troon, Ayrshire, is campaigning for the drug Myozyme to be available to all Pompe sufferers in Scotland.

And last week, she attended a rare diseases conference at the Scottish parliament.

So rare is the condition that only another 10 Scots have been diagnosed with it.

The expensive medication, which is not a cure but prevents it from worsening, is assessed on a case-by-case basis as it costs hundreds of thousands of pounds to treat one patient each year.

For Lynn, who was diagnosed with Pompe after developing a limp, it is particularly frustrating as she was refused the drug from NHS Ayrshire and Arran last year, and lost her appeal.

The mum-of-one said: "I walk with a limp because my legs have a weakness. But Pompe can affect every muscle in your body and it will get worse.

"I struggle with walking up hills or stairs, getting out of a chair. But I try to get on with life because I have a daughter.

"Lauren is great. She'll dust, vacuum and shop without moaning."

Lynn was diagnosed in 1999, the same year as Lauren was born. She worries every day about being wheelchair-bound and the impact it will have on Lauren.

"I don't want to hold Lauren back," Lynn said. "I know it will happen if I don't get the drug. That's why I am going to do everything I possibly can to get it."

Last year, Lynn met medical specialists from NHS Ayrshire and Arran where her case for Myozyme was heard. It was thrown out and Lynn appealed.

This was also rejected.

In a bid to have it overturned, and have the drug more readily available to Pompe sufferers in Scotland, Lynn has contacted her local MSP John Scott.

Lynn, who can't walk very far, added: "Every day, I try not to let it get me down but I feel angry and frustrated because I know there's something out there that could potentially help me."

Lauren, 11, has been forced to grow up fast and throughout her childhood has been responsible for many household chores.

But Lauren, who is in primary seven at school, does not mind. She said: "My mum is such a loving and kind person.

"If she got the drug, life would be very different and it would prevent her from being in a wheelchair."

Lynn's parents find it tough to watch their daughter struggle.

Mum Margaret, 64, said: "She deals with it as well as she can. She's not in pain but it breaks our hearts to watch her suffer.

"Lynn lives for Lauren. She wants a quality of life for her, more than herself, but that won't happen if she doesn't get the drug."