Six years ago my husband and I were both excited to start a family but he was reluctant.

He was reluctant because I was still a student in my final year of completing my degree. But I assured him, it would be fine, I can handle both together. 

I am good at multitasking. What I did not know was that I was a carrier of a very rare and degenerative genetic condition for which there is presently no cure.

I found out I was a carrier of MPS-II very earlier into my pregnancy but decided against a Chorionic villus sampling (CVS) because of my faith, prayer and hope was that my child would be fine (free from the condition). I gave birth to my son in 2007 and learnt very early after

Christian was born that he was affected by hunter syndrome. I realized my greatest fear had come true and my child was going to get severely sick over time as this is a degenerative condition.  As he grew into a toddler, he started losing some of the developmental skills he had.  He first lost many of his words and then his hearing around two years of age. He did not develop any new words and communicating with him became a challenge. His joints started stiffening up and he had some difficulties using his fingers. He had trouble sleeping and woke frequently at nights. During the day he would be very unsettled and I spent a great deal of time in my doctor’s office. He had very noisy breathing and he got constant cough and colds. We felt alone and no one seemed to understand the many sleepless nights, emergency room visits and what seemed like a never ending nightmare .We felt our situation was downright unfair.

But we soon realized we had two choices be angry and bitter about our situation or lift our heads up and be positive.

We decided to be positive and keep trusting God to do the impossible and heal our son.

We also began fighting for him and that meant adjusting my career as primary teacher  to becoming a carer, an advocate, pioneering for life saving treatments.





When should a parent stop fighting for 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


This week marks an important milestone, it is one year ago since we first embarked on pioneering a clinical trial for hunter syndrome patients in Australia. The trial known as Idursulfase IT is very important for sufferers of hunter syndrome with the more severe form given that the current medication available does not treat the brain.

A year ago, I began to research the feasibility of having an Idursulfase IT trial site established in Australia. We started with a blank canvass. I simply picked up the phone and had a discussion with the medical director from Genzyme Australia, followed by discussions with several metabolic doctors, the MPS Society and several parents of patients both in Australia and overseas about the trial.

The responses received from these initial discussions wasn’t exactly positive. There were some concerns from parents about the safety of the trial but there was also a reluctance from the conservative medical profession. Some of the doctors hadn’t even heard of what was going on overseas.

Nonetheless we decided to continue to explore how we could establish this trial in Australia.  We decided to seek the support of a leading metabolic specialist who offered his support.

Though Genzyme is the distributor of ERT in Australia they could not advise on how to go about having a trial site established in Australia. Nonetheless, they wanted to help and they offered to make some enquires. They told us to send them a letter and they would locate the correct person/s in Shire to send our letter. But after several weeks, they informed us that they were still consulting with their American counterpart and would let us know as soon as they knew.

For us time was running out as the global trial had to move to the next phase with or without Australia on board so we decided we would make our own enquiries. We were put in touch with Dr. Joseph Muenzer lead scientist for the phase I/II trial at the University of North Carolina.

We then wrote a letter to Dr. Muezner. He was so helpful and quickly provided us with the details for Shire Medical Director and Coordinator of the trial. He also forward our letter to Shire HGT.

This was the beginning of our communication with Shire HGT.  We began corresponding with them and they were delighted to learn that there were patients in Australia willing to participate in this life saving clinical trial. At the time they were also aware of a change in health department policy with patients with neurological involvement being able to gain access to Elaprase.  

After several months of correspondence Shire informed us in December 2013 that Australia was now being considered as potential trial site for the phase II/III global trials. They committed to commencing a feasibility study in Australia.

We were delighted and humbled by their decision but as we began to communicate with our local hospitals we realized there would be several obstacles to overcome before Shire could establish a trial in Australia. The first obstacle we encountered was our lead metabolic doctor was no longer going to be involved in the trial as his hospital was either not willing or able to support the trial. Two other leading pediatric hospitals also provided the similar response.

After several phone calls, letters and meetings. We finally learnt that there were now only two hospitals willing with the capacity to run the trial and we have continued to work closely with one of those hospital . 

But there was still another major hurdle to overcome which was the Federal Governments Life Saving Drug Program (LSDP) MPS-II Guideline. There are clauses within this guideline which we knew were discriminatory and if not amended could pose a problem for any future clinical trials in Australia. This was one of the reasons why we raised these concerns in a letter to the Federal Health Minister back in July 2013.

Looking back over the past year, we have achieved a great deal with all key stakeholders. We are positive on the current status of the trial and quietly confident that we will achieve what we set out to do a year ago. Shire is currently addressing their concerns directly with the LSDP and should have issues they had with the guideline resolved very soon.

In the very near future our story will go to air where we will report on the final outcome of this trial and our extraordinary journey to have a clinical site for our son with hunter syndrome and other hunter syndrome sufferers receive treatment for the disease in the brain .

Campaign success for sick boy

Rebecca Trigger, The West AustralianMay 28, 2013, 12:16 pm
Campaign success for sick boy

Michelle Dierkx and 5-year-old Christian. Picture: Steve Ferrier/The West Australian



The Federal Health Minister will review the eligibility criteria of the Life Saving Drugs Program after a little Perth boy's family spent 16 months campaigning for reform.

The family of Christian Dierkx, who suffers from a rare genetic condition, are relieved their son has been put back on the program but say its eligibility guidelines are discriminatory and need to be reformed.

Christian, 5, was accessing the drug Elaprase through the program, a Federally-funded initiative which is designed to supply extremely expensive medicines that are otherwise not available on the Pharmaceutical Benefits Scheme.

He was being treated for Hunter syndrome, also known as Mucopolysaccharidosisa (MPS), a degenerative condition where the body lacks an important enzyme and can lead to stiffness of the joints, aggressive behaviour, hyperactivity and intellectual impairment.

But under the scheme's guidelines, patients must demonstrate stabilisation or improvement of their condition to continue to receive the medication.

Christian's supply of Elaprase - which is shown to slow the debilitating effects of Hunter syndrome - was cut off in January last year after his condition was found to have deteriorated.

After a sustained campaign by his parents - which included countless letters, emails and calls to the Federal Health Minister - the Government late last week reversed its decision and has reinstated Christian's medication.

"We are relieved just to be able to put this whole issue behind us and focus on Christian's development, for him to continue to grow and be a happy and healthy boy," Christian's mother Michelle Dierkx said.

But she said he had sustained permanent damage during almost 16 months without the life-changing drug, including thickening of his features and restricted growth.

"I think Australia needs to have a good look at the way they have the guidelines set up around the way they administer this treatment to Hunter Syndrome sufferers."

His parents have always maintained undiagnosed hearing loss caused Christian to underperform on verbally-administered tests, making him appear to have intellectual impairment caused by his central nervous system becoming affected by his condition.

But they say even if there is central nervous system involvement in cases of Hunter Syndrome, Elaprase is still effective and to withhold treatment is discriminatory, because it treats someone with an intellectual impairment differently - deciding they are less eligible than someone without that disability for publically-funded treatment.

"I think the exclusion criteria should be taken out of the guidelines immediately," Mrs Dierkx said.

"For all the other MPS sufferers out there that have not been able to access this treatment, which I understand is about eight, because it's the only thing that is available to these patients, … if they are not able to access it will make their quality of life not very good."

A spokesman for Federal Health Minister Tanya Plibersek said the Minister made the decision to reinstate Christian's medication based on new and emerging evidence that treatment with Elaprase is likely to improve Christian's airways, lung function and range of movements of joints, and therefore the therapy may prolong his life.

The Minister also asked her department to commence a review of this emerging evidence, he said.


What is mucopolysaccharidosis or Hunter syndrome?

Please click here: power point presentations

power point presentations.ppt (89088)


Christian Dierkx finally has Good News

20/10/2015 15:53

Our 7 year old son Christian is the victim of government red tape.

25/10/2014 11:07
We appeared on the Sunrise program on Monday 20 October. Below is the link to the story. Just some background information about Christian and his fight for life.  Christian was diagnosed with an ultra-rare genetic...

12 months today we began seeking treatment for MPS-II sufferers in Australia

12/07/2014 20:17
   This week marks an important milestone, it is one year ago since we first embarked on pioneering a clinical trial for hunter syndrome patients in Australia. The trial known as Idursulfase IT is very important for sufferers of hunter syndrome with the more severe form given that the...

Final report on Idursulfase IT Trial ( final outcome to be reported on the Channel 7 program Australia)

21/06/2014 09:15
We are pleased to provide an update on the progress of the Intrathecal IT trial for MPS-II. The trial site selection has now progressed to the next stage and currently going through the “eligibility assessment” for running the trial. Shire is also consulting directly with the LSDP and has now...

Intrathecal clinical trial Hope is on the horizon

22/03/2014 07:11
In July 2013 we requested the pharmaceutical company Shire HGT in the U.S. to consider Australia for the Phase II/III MPS-II Intrathecal enzyme replacement trial. This clinical trial has been ongoing in the USA and the UK for a couple of years and Shire has recently began recruiting patient in...

Shire Makes Decision about Intrathecal Clinical Trial for Australia

09/01/2014 22:40
Our son Christian has hunter syndrome (MPS-II) which is a debilitating and life threatening metabolic genetic condition. He is only expected to live to his early teens without treatment. I am a person of faith so I refuse to allow this disease to take my child. But I also realize that ‘faith...

Health Minister overturned decision by her department and reinstated Christian's elaprase

18/07/2013 01:26
Campaign success for sick boy Rebecca Trigger, The West AustralianMay 28, 2013, 12:16 pm             Michelle Dierkx and 5-year-old Christian. Picture: Steve Ferrier/The West...

Christian's elaprase success story - Federal MP Steve Irons

18/07/2013 01:22
Latest News Current Articles | Archives | Search Swan Electorate: Hunter Syndrome Posted on:Wednesday, 19 June 2013   I am pleased to be able to inform the...

It takes someone brave to be a mother, someone strong to raise a child and someone special to love beyond yourself

Struggles of hunter syndrome mums

I asked her if she would was comfortable with me writing about her story and the struggles she has faced to access services. Without hesitation, she happily said yes.

Every parent has a dream for their child. They want the best for them and desire to see them grow up, be healthy and happy. They often work very hard and make considerable sacrifices to make this possible. However, for parents of children diagnosed with rare and degenerative genetic conditions that hope can sometimes feel as though it is disappearing in front of their eye. Unfortunately the difficulty of a diagnosis is not made any easier when it comes to accessing services and treatment.

Parents of children with MPS conditions are in race against time. Yet they often face an uphill battle to access the necessary health care services.

I recently talked to a beautiful hunter mom whose son was diagnosed in February 2013 with hunter syndrome. She began to explain her situation. She has two children with two different medical conditions. Aside from her son with MPS-II, her daughter has an undiagnosed condition. She explained that it took a long and windy road for him to get diagnosed and she is still coming to terms with his diagnosis. She explained that when he was first diagnosed he could not get access to Elaprase infusion and the CT scan of his brain condition was very bad. Therefore the doctors thought the best viable option for him was a bone marrow transplant. This was in the hope that a bone morrow transplant would stop the onset of the disease in his brain and enable him to access life saving Elaprase. She decided to go ahead with the transplant but is concerned about the enormous road ahead for her and the rest of the family.

She explained, ‘no one seemed to understand. I felt like I have been pushed around by the doctors. My questions were not being answered and I had no idea what services were out there’. She went on to explain, ‘I do not have time to research what services and treatments are out there, I am too busy just tying to save my child’s life’.

She has been at the hospital for several weeks. Her son has had numerous surgeries and home is miles away from the hospital. Unfortunately she does not see much of her other children and her husband. She said his body shut down a couple of times and he is receiving chemotherapy to stop his body from rejecting the bone morrow once it is implanted. Even though this mom had reservations about the surgery and was told about the many risks. Given that she already has a child severely sick she decided to do what any parent would do and is to give their child the best chance at life. It is believed that her son is the first child in Australia to have a bone marrow transplant for MPS-II condition.

As I listened to her I could hear the frustration and anguish in her voice as she described her situation.

From one mum’s fight to another I felt her pain and I empathise with her situation. However, her story is not unique in regards to services and information. These stories are unfortunately all too common with many MPS families.

I asked her if she would was comfortable with me writing about her story and the struggles she has faced to access services. Without hesitation, she happily said yes.

She was also very grateful for the new precedence set with the reinstatement of Christian’s Elaprase in May 2013. Her son was recently offered access to Elaprase. They are looking forward to commencing once her son is strong enough to do so. I am truly amazed everyday when I meet or hear of a child getting access to Elaprase in Australia that has been previously excluded from the LSDP. We are encouraged by the newfound leadership by Federal government in rare diseases.

I am truly inspired by her courage and will continue to follow her journey in doing bone morrow transplant and support her.

Mr serious at school and waiting for his suitcase at the airport

Mayo Clinic

For anyone interested in bone marrow transplant for hunter syndrome patients


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Christian the master chef

Christian loves to eat and equally he has developed a love for cooking and baking.

Not only does he like cooking he likes to help me in the kitchen as well.

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Shire was originally established in the UK in 1986 and we continue to grow our product range and expand our locations so that we can bring our life saving and life changing treatments within the reach of patients throughout the world.

Shire Australia was established in May 2008 in offices in North Ryde, Sydney to provide product and services to the many Shire customers in Australia.

Shire Australia is a wholly owned subsidiary of Shire plc, a global specialty biopharmaceutical company that works closely with specialist physicians, nurses, pharmacists and other healthcare professionals to develop and provide medicines that improve quality of life for patients, their families and carers.




Shire Study results

Shire will post clinical study result synopses filed with regulators on or after January 1, 2014. At present, this site only contains information about certain completed Shire-sponsored clinical trials. For information on additional completed clinical trials that have been sponsored by Shire, please go to

Condition Study  
Hunter Syndrome

Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy

Clinical Study Results Identifier - NCT00607386

Fabry Disease

Replagal Enzyme Replacement Therapy for Children With Fabry Disease

Clinical Study Results Identifier - NCT00084084

For completed results prior to January 1, 2014, please visit


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This website is founded and developed by Michelle Dierkx . It contains general information about Hunter Syndrome, or mucopolysaccharidosis- MPS-II. We encourage visitors to this website and value feedback and comments about mucopolysaccharidosis related issues. However copying of...