May 1, 2018, 5:03 PM
Heath v2

From four weeks old we begged for help with Heath. His legs never moved, we knew something was seriously wrong. Over the course of 10 months we went through three GP practices trying to find someone, anyone to listen. I eventually refused to leave without a referral to a paediatrician.

Two weeks later we were finally seen in the hospital. We were told Heath would be sent for an MRI and blood would be taken. We had no idea what they were looking for. The day before Heath’s 1st birthday he went for his MRI. Unlike most kids who can go home four hours later Heath’s little body wouldn't stop shaking. Heath woke up on 20 May 2017, his 1st birthday, in the hospital. Weeks passed with no news. We got to the end of July and I went directly to the outpatients clinic to demand an appointment. We were scheduled in for 13 August. At that appointment we were casually told he's fine, but we don't know what's going on. I requested several times for the paediatrician to look at the results in front of me. He finally quickly scanned over it and said it's fine. I remember seeing a screen of blue writing.

That evening I missed four phone calls. I had a message asking both my husband and I come in first thing. We knew it was bad. We hadn't even sat down and the doctor looked at us and said Heath has type 1 SMA, what are your questions? We didn't know what to ask. We had no clue what it meant. The only question that came to mind was will he walk. The doctor then started telling us about his own nerve injury and miracles happen. He told us to go home and Google SMA. We left with hope. We left convinced that our little boy was going to be OK, we were going to do all the physio we possibly could and he would be fine.

That night my sister and her family came for dinner. I noticed my husband crying. He said he was tired and went to bed. When I finally joined him I heard a quiet "Google it". I don't know what was wrong. I typed in Heath’s diagnosis and the first thing to appear on my screen was "SMA is the leading genetic cause of infant death"; "world’s deadliest genetic disease in children"; "approximately 95% life expectancy is less then 18 months". I'll never forget the feeling. I couldn't breath, my chest was caving in, everything just disappeared and I wanted to be sick. On 14 August 2017 my 15-month-old son was given a death sentence and there was nothing I could do to save him.

I spent the next week researching. Our next appointment I was prepared. I was ready with my questions and what we need. None of my questions were answered. We were told we do nothing but keep him comfortable and enjoy the time we have. He's going to die. We just have to watch.

SMA stole our family. Everything we had worked for was torn away. Our dreams of what we could do with our boys, watching our boys grow old together, giving our boys a happy, normal, typical life. It was all gone. We watch our boys play and laugh and my heartbreaks knowing one day my boys are going to experience a pain that no child should ever endure. We watch our boys smile and laugh and know one day they are going to be full of hate and misery because their little brother was taken away. Our 8-year-old hid under his bed and cried when he had chicken pox. He thought he was going to kill his brother. We had to leave farming to be closer to the hospital. We no longer get to go camping or play outside in the rain. We avoid the beach and the lake because Heath can’t bear the feeling of it. We don't get to go find glow worms in the dark because Heath might catch a cold. We can't go out over winter because there's too many bugs. We miss family functions and sports events. The simple daily task of popping to the supermarket is no longer simple.

SMA has forced me to quit work, as a family of five living off a single income is no easy feat. Heath hasn't only been robbed of his mobility and independence - he's been robbed of a typical childhood. Because of his global weakness a simple cold can be life-threatening for Heath. Because of this Heath is not allowed to attend kindy or play group, in turn the isolation has caused Heath to develop social anxiety. Constipation has been a huge struggle. For eight months we tried all we could, Heath was up to 40ml of Lactulose a day and still we were lucky if he would go once a month. We were told we weren't doing enough for him, it was our fault.

Finally we found the right doctor to listen. Heath was sent for an xray and then it was requested we admit him for two weeks. By that stage I was well past any patience and sanity I may have had. I refused admission and got medical clearance to take Heath home and administer the medication myself. It's been almost eight months now and Heath still requires medical clearance to keep Movicol at home to keep him going. Heath requires 24 hour watching. His weakness makes it hard for him to swallow. A bit of extra saliva can cause him to choke. He can sit for short periods before his little body collapses. He has never crawled nor borne any weight in his legs.

SMA is going to cause Heath’s body to slowly get weaker until he is completely reliant on machines to live. There is one treatment currently available for SMA. This treatment - Spinraza - is not available here in New Zealand. At $125,000 per injection ($750,000 for the first year) it is well out of our reach. Through conversations with members of parliament, Medsafe and PHARMAC, we have been told because it's a rare disease Spinraza is not worth their investment.

We are still fighting. We won't take no for an answer. With luck Starship Children’s Hospital will become a trial site before the end of this year. I am attending the world's largest SMA conference in Dallas, Texas later this year. I am hoping to gain information that just isn't accessible here. I am also hoping to get face-to-face with researchers and companies working on treatments. New Zealand needs to be in the map. Our children deserve the best opportunity for the best chance at life. We have been lucky enough to receive carer support hours - although one hour a day doesn't give Heath the chance to bond with his carer.

Heath is an amazing boy. Our silver lining to SMA is that Heath’s mind and personality are exactly who he would be without SMA. He is mentally a typical, cheeky toddler who loves to play. But his physical disabilities feel like I've had a newborn for almost two years now. The financial struggle is a huge headache. The only hope we have of ensuring Heath a longer, stronger life is to gain access to treatment. We spend hours everyday exercising Heath. Trying to keep his body in the best positions possible. We live in hope that we will get treatment and Heath will one day have a typical life.

By Heath’s Mum Anna

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