SURVIVAL INSTINCT
FOUNDER OF THE NEW ZEALAND POMPE NETWORK, ALLYSON LOCK (54) ADVOCATES FOR THOSE WITH THE DISEASE
Allyson Lock’s fight for life
Ihad no idea at all that I had the disease. You’re born with it, but it might not manifest itself until the fifth or sixth decade. Even when I started getting a few symptoms, it still took 16 years for a diagnosis.
It snuck up on me. Every day I had a headache. It was like a hangover that didn’t go away. I also had aching calf muscles and general weakness.
It was a doctor that I had seen twice before who identified it. He said to my GP, ‘I think she may have Pompe disease’.
They did a heel prick test and within a couple of weeks I got a letter back confirming it.
I was elated to finally have an answer − until I googled it and found out it was a fatal disease. Then I was absolutely terrified. I thought, ’I’m not going to see my children grow up. I don’t want to die.’
That night I got onto a Facebook chat group. Someone from Canada said, ‘It’s not a death sentence anymore; there’s a treatment for it.’ It was so helpful to have support from people who had the same thing.
I decided we needed to set up a support group because there’s such limited help in
New Zealand for the disease. I got in touch with all the patients I could find − there were four of us − and we created the group.
I set about getting all the information I could. We put applications in for treatment, got declined, and then I found out about a trial for a new drug in Florida. They were having a webinar so I phoned in and asked, ‘Would you take anyone from New Zealand on the trial?’ They didn’t say no and that was all I needed!
At first, my husband Steve (50) and I weren’t sure how we could make it happen; we had young children and if I got on it I would be away for more than six months. We decided we had to make that happen and in 2011, I went to Florida.
You had to be screened and if you didn’t pass the criteria you’d be put on a plane back home. I was terrified. I failed the breathing test, but the doctor said, ‘You didn’t come all this way to turn around and go home. You keep going until you get there.’ So I did.
I stayed in Florida for just over six months. I was so grateful. The drug company running the trial didn’t want New Zealanders on it because Pharmac doesn’t fund these drugs very often, but the doctors said, ‘Turn a blind eye to where these people are from. They need your help!’ That paved the way for getting three more Kiwis on the trial.
The drug trial made a huge difference. If I had stuck with what was going on in New Zealand, I would be dead now. I had everything to gain in going and they gave me hope that I could survive and see my children grow up. I went from dying from the disease to living with it.
The trial lasted five years. The mutation I have stops the enzyme that breaks down sugar. I’m given an intravenous infusion fortnightly to replace the missing enzymes. When I came back from Florida, I then had fortnightly trips to Brisbane for three years before the trial shifted to Auckland. That lasted a year and a half until it was cancelled in 2016.
I went without treatment for nine months and it was terrible. I was back down to choosing between having a shower or making dinner for my family because I could only do one of those things, then it was back to my bed for the rest of the day on my breathing machine.
It all just got on top of me. It was back to begging Pharmac and the drug company for help. All of us with Pompe disease were literally begging for our lives. Thankfully, they decided to give it to us compassionately.
There are 11 people in New Zealand with Pompe disease, that we know of, including my twin brother who got diagnosed
when I was in Florida. I also found out two years ago that my cousin has it. Both of our mothers were living in Gisborne and had children 10 years apart with two different men who carried this mutation as well. That’s just beyond imagination!
My three children are carriers. Both parents have to carry the mutated gene to pass on the disease. If my husband is a carrier − and we don’t know that yet as he hasn’t been tested, but we’re going to do that − then there is a possibility our children have Pompe.
Recently, I was so grateful and humbled to receive the Rare Disease Day Patient Advocacy and Support Award. I don’t feel I deserve it yet until we get funded treatment. When I was first diagnosed, there was no help really. Now I want to make sure everyone gets what they need, whether that’s getting on a trial or medication from
Pharmac − we’re still working on that and
I think it will happen.
All I want is to help people not be in the same boat
I was in.”