When should a parent stop fighting to save their child?
Hunter syndrome is ultra-rare genetic condition affecting 0.6 in 100,000 births in the world. Hunter syndrome occurs when an important enzyme the body and the brain needs is either missing or is not working properly. There is no cure for hunter syndrome and most sufferers will only live to see their 14th birthday. There is approximately 22 sufferers in Australia with this condition. Fifteen of those sufferers currently receives a lifesaving drug under the federal governments Life Saving Drug Programme called Elaprase.
It is an artificial enzyme that is proven to treat only the physical effects of hunter syndrome. Physical symptoms include but are not limited to joint stiffness, facial deformity, airways obstruction, enlarged liver and spleen, heart valve failure, irritable bowel syndrome and hearing impairments. Patients with the more severe form of the condition can experience autism like symptoms such as hyperactivity, obsessive compulsive disorder, learning impairment, language difficulties and short attention span.
Growing up with Hunter Syndrome
I grew up with three sick siblings. We knew they were sick-very sick. But had no idea what was wrong. As a child this was difficult for me and my parents but all I wanted to do was help. But I couldn’t really all I could do was pray. I prayed every night for a miracle and I believed if I was good God will make them better. But unfortunately they didn’t get better.
My brothers suffered from frequent episodes of epilepsy as well as coughs and cold. Imagine your child getting a cough and cold, all children get them-right! (not a big deal) a dose of cough medicine, plenty of rest and they are generally good within a week if not days. Well not so with my brothers with hunter syndrome. Coughs and running noses lasted for months. Then came the inevitable chest infections and phenomena which followed shortly after.
Hunter Syndrome is deadly
One of my brother went from being able to walk to becoming paralyzed in less than a year. His last admission to the hospital in 1991 was to be his last. One Monday morning my parents asked me to visit him in hospital as I was on my way to school. I did and when I got there, his bed was empty. My heart sunk but I thought be positive, they just took him for an x-ray. He will be back. I waited and ten minutes later a nurse walked in. I said, ‘where is Darren’, she replied, ‘where is your parents’? I recalled saying, ‘they are at work’. ‘Where is Darren?’ I politely asked again as the tears began to flow down my face as I could sense what she was about to say. She quietly said, ‘sorry kid, he’s dead’. I screamed as I recalled saying to her. ‘Where is he, you are lying’. As I walked away from the hospital in disbelief I struggled to understand. I asked God, ‘why, what did my family do wrong’?.
I had to walk approximately 2 miles back home. I contemplated whether I should continue to school or go home to break the sad news. I decided to go home. I saw several of my community members on the way home but I did not stop, I did not speak and I tried my best to hide my tears. I didn't want anyone to ask.
I was afraid, afraid I would be called names or even worse be beaten up. Being called names and bullied was a common event for me. Because my brothers were different, they had trouble walking and had minor language delay. I found my father and told him the devastating news. I witnessed him cry for the first time in my life. He immediately went to the hospital to demand that they show him his son.
We buried my brother at the tender age of 14 and death was something I had to learn to accept. My brother Darren wasn’t the first sibling to die so by now I felt my only remaining brother Dwight’s fate was sealed. As the years went by I witnessed him deteriorated physically and mentally .The truth is there was nothing I could do, certainly not in my native Jamaica. We had no diagnosis and even if we did we couldn’t afford treatment.
The gene I did not need
Throughout the years of witnessing my brothers struggled for life. It never once occured to me that their sickness was genetically related.
In 2007 before my last brother succumb to his illness and died at the age of twenty six. A doctor at Westamed Children's Hospital asked us to get urine and blood samples from him sent from Jamaica to Australia. Unfortunately as faith would have it I learnt it was hunter syndrome and I carried the faulty gene. There was a fifty percentage chance that a male baby I had could be affected.
Fighting for a clinical trial
In 2007 I had my first child, a beautiful baby boy. I named him Christian. He looked happy, healthy and I loved him to pieces. But there was a dark cloud looming, was he affected by hunter syndrome? This was the nagging question. Two weeks later I found out he we was and I was devastated
Fast forward five years later. I have spent the last three years fighting to save his life. Even though there is a known and proven drug to stabilize his physical condition. We spent 16 months fighting the Federal Government to allow him access to treatment. They did, but the battle to finally have guidelines amended are still ongoing.
My son's disease is unique. It affects his body and his brain but current treatment only treats his body. I sought treatment 17 months ago for his brain and found it. But once again I am stuck in a catch 22. Or as one of our very supportive doctor wrote ‘it mental torture’
We know that neither government nor bio- pharmaceutical are searching for a cure because of the rarity of his condition and treatment is expensive. But putting things into perspective the number of children with my son’s disease is small. Is continuing his treatment really going to break the Federal budget? Of course not. Besides the government doesn’t need to spend a penny on the trial in waiting. It’s being covered fully. Commonsense tells me amending a discriminatory guideline/redtape to allow private sector investing into medical research for rare disease is not only good for the patients it’s good for taxpayers.
So if my child cannot have this trial what should he do? Should we stop fighting and just hope for a miracle? Where will that miracle comes from, if not us. I certainly will not sit back. We will make this trial happen .Hunter syndrome has stolen too much already.
My son is brave. It’s time for government to be brave.
Christian has no choice. In order for him to get better he must put his tiny body through a rigorous, time consuming and painful scientific experiment
The hope for my son is this clinical trial. The long term hope is finding a cure. This clinical trial must happen