2nd Asia-Pacifiic Lysosomal Conference 2019

Stephanie Standish

What is it like to be an adult with MPS 6 (Maroteaux-Lamy) and live or try to live as normal a life as possible.

As adults with MPS we are always told it ‘s ok you have the mild form of MPS 6, but what does that really mean and does any child or adult with a Lysosomal disease have a mild form? I don’t believe this is correct. Since I started going to conference’s about MPS, I have noted that medical advances are helping children live longer with new medicines and now the all important gene therapy or enzyme replacement therapy.

It’s hard to see parents going through the pain of diagnosis and understanding of what their children will suffer as they go through the disease process. It is particularly hard to see friends and children with these diseases die.

Having had a child myself and loosing him to SIDS or cot death which I still can't quite believe is the real reason he died I understand the parental issues better than most.

Having been told in my teens that 40 was our expected life expectancy this year 2006 has been a big one because I turned 40 and I am alive and well to my surprise and amazement. So to celebrate this year I decided to have an art exhibition of my works. I have been doing a diploma in arts and creativity for the last 3 years and loving it.

I am hoping some day I can support myself from my art and not rely on the government.

One of the major issues I have with MPS 6, has been the constant chronic pain that had not responded to any of the drugs I have tried for pain relief. Some days I am so tired I just don’t have the energy and want to sleep my life away. It is very hard to stay focused. If I go anywhere I have to make sure I have extra pain meds and be prepared to sleep a lot when I get home to recover. I find myself not wanting to go far these days.

Everything has a cost and my goal is to not feel too much pain and have time just to enjoy life and live without pain. However; I have been on Pamidronate now for 1 year which has turned my life around. Before taking Pamidronate I use to spend most of my days in bed. I most certainly would not have considered taking on my Art course. I am the first MPS 6 patient in the world to use this drug. My brother Evan is about to commence treatment he also suffers from much pain.

So around April and May I found myself quiet scared of those words “40 is their life expectancy.” My fears had fun with my mind for those months and on June the 9th six days before my actual birthday the local Salvation Army Hall held my art exhibition and birthday combined.

It gave me something to plan and aim for. I showed 24 paintings and prints and 3 small white clay sculptures and sold 6 pieces with a deal for 2 more and interest in some that were on show. I was happy to see my mothers pride in me. My father also joined us it was the first time I had seen him in 36 years. For the first time in many years I felt like I had a family again not in the normal sense but to see mum and dad having pride in my work and others confirming my talents made me aware I can go somewhere more with this.

What’s the lesson you ask? Try anything and even if you doubt yourself give anything a go.

Pain in this disease is extremely hard to describe, as it’s constant and never goes away. It is frustrating when the Dr. asks if the pain is between 1-10. What really does that mean when you have pain every single day of your life, to put a number on the chronic pain is impossible.

It’s so hard to put in words how bad things can be. My daily goal is not to make myself hurt more than I already do, so sometimes I can do lots because I feel ok, other days I can’t get out of bed. My art has been a way for me to explore my feelings in pictures and sculptures.

100224This is a piece of carving on burnt rimu that I did for my younger brother to help him celebrate his Māori heritage.
100225These two are my representation of what I would like to feel and look like but I am not, so I paint my ideas of the perfect womanly shape and figure.

So what are my thoughts and feelings - life is too short to be scared of living it. That doesn’t mean it is going to be easy by any means but it does mean you are true to yourself.

I hope some day as gene therapy takes off and children live longer that everyone considers all sides of what it means to live longer. That as your children become young adults you remember they have all the normal teenage anger issues compounded by their Lysosomal disease.

If anyone asked me now would I have had Ben my son if I had any real understanding of the physical damage he did to me, I don’t think if I had the knowledge I have now I would have gone through with that pregnancy.

I was always worried about him seeing me go backwards never did I think or plan that he would go before me………

But I am glad I got to be someone's mum.