Patient Stories

Yakuta

This Is ME…

Yakuta – Age 25.
I have a rare disease; I was diagnosed with Juvenile Late onset Pompe disease (LOPD) in 2012.
I live with my mother and sister.

My journey so far…

My weakness first started from around the age of 16-years. I would keep tripping over or have severe pain in my legs which I thought was just knee pain and I would just choose to go on with my day, until it got bad one morning and I had to go see a doctor but the doctor didn’t say much and said we are young so it must just be a normal pain occurring. I later started needing support to get up off the floor and this was particularly obvious during prayer times or doing some activity on the floor. I also always struggled to achieve fitness and this has particularly been the case over the last five years. At the end of 2011, I had started to develop severe headaches and dizziness which lead me to go back to my doctor, who then got me to be reviewed by the Neurology team in 2012.

I was later been seen by a Respiratory specialist where I came to the diagnoses of sleep apnoea, and was then put on a breathing machine (VPAP). They had also done my muscle testing which showed I had progressive proximal muscle weakness.
It all made sense once the diagnosis came out. All the WHY ME, WHY this… Just WHY everything ended. I was relieved that the purpose for all these things occurring was this disease. The sad thing about the whole process is that there is NO treatment available in New Zealand. The government needs to start funding the ONLY TREATMENT AVAILABLE – MYOZYME, like every other developed nation is doing, or even set up clinical trials!

Before I was diagnosed I was working at ECE learning and discontinued working in 2015 when I would constantly keep falling sick for days. Since then I have been working with Mum. There are many days I would just be in bed all day resting. But it’s great having wonderful family and friends around me who always try to keep me up and running with high energy, supporting me every step of the way!

In 2016 we had some great news! There was finally a clinical trial ready to take me in, also a few fellow Pompe patients. The trial is from Amicus Therapeutics for an enzyme replacement therapy (ERT) to treat Pompe. So far the trial has been going great. I have noticed a few changes in me, such as climbing up the stairs, I can do it in a much better speed, getting up from the floor and blowing balloons haha!!

What helps me throughout my journey is being POSITIVE! Always keep a smile on your face and let everything fall into its own place.
Although I worry a lot I always say;

“The struggle is never over for me, but I don’t plan on stopping here. I have a lot of other goals; to get up to more activities, go on world tours! And also get back to work or create something of my own.”

Yakuta