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Home » Individuals and Families » Yael's Story

Yael's Story

What's wrong with Maxi?

The Diagnostic Odyssey

MaxiWho am I?  I am just a mum, there is not much special about me, but my youngest son, he is special, special in the sense that he has a unique condition, which has baffled doctors from here and all over the world.  Indeed his condition is unique but as you are well aware, this is a common problem; to be undiagnosed.    

Maximus was born a healthy, full term baby weighing, 7"9', and showed no signs of illness until a tumour appeared on his cornea at 9 months of age. Since then, for the past 21 months and still today Maximus is being treated here at the Royal Children's Hospital, for a yet to be diagnosed medical condition.  In short, this has presented with an eye tumour, brain lesions and abnormalities and sudden unexplained weight gain. He also suffers from unexplainably high blood pressure, fatigue, unsteady gross motor skills, skin lesions & vascular malformations.

This journey has obviously been a struggle for us on many levels, from the initial stages of grasping to come to terms with what this all means.  I wish to expand on this; these are the questions that come to mind. 

When you are told your child is undiagnosed and has brain tumours, what does this all mean?  Does it mean he is in grave danger? What does the future hold?  Does it mean he is incurable? Is this reversible? Is this degenerative? What weapons are we armed with in this war?  Will we ever know?  Will future generations in our family be affected?  Where has this come from?

Perhaps I am too pragmatic to ask why us? Or is it my fault?  These are things that never occurred to me until people started saying, why you? And you know it's not your fault?

Innately I want to protect and care for my children as best I can, however if they are ill this is not my fault, I wanted to make a point of this because - it's not your fault either.  It is clearly difficult and frustrating for you when you cannot find answers for families that are so desperately searching for answers.

Our anguish as parents of our boy is more about what can we do? What can we as parents do to assist specialists with relevant information and be treated by those specialists as a respected resource? 

We are in a sense the instinctive specialist's of our child. For example, my son didn't look or act ill when I brought him into emergency, but being his mother, I knew he had regressed and something was not right.  I had grave fears for my son and it had taken many months for others (including family members) to see the changes that I saw.  So there were also issues around the fact that there was much disbelief. 

Another example of this is the waves of fatigue Maximus experiences. On one visit to his neurologist he was running up and down the hall and seemed to be quite able to control all his gross motor function well, whereas on another visit he was fatigued when seeing a team of dermatologists where he lay floppy and allowed each of them to examine him without moving a muscle. They wanted to take him to emergency downstairs because he was floppy, I had to explain he was just fatigued.  So my point is he presents differently each day, and examining him for 20 minutes is never going to give the clear picture that a parent who spends 24 hours a day watching the child with interest can provide. 

Although as parents we can provide emotional and nurturing support to our children, we are not experts in the field of their illness. That is where the relationship is so important between us and the specialists, we need to respect that they also made decisions based on their knowledge which is much more technical and profound than what we see on the outside with behaviour and movement.

The most pressing and concerning problem we face with Maximus is; no matter how little he eats, he gains weight uncontrollably.  In the past two months alone Maxi gained 3 kgs.

What does genetics mean to me?

So what does genetics mean to us? It means everything! It's the only thing!  It is what we believe in, our saviour, our big G word.

We believe that without this our son has less chance of diagnosis or cure, this is our only hope.

Genetics research has and continues to change lives of many who have been lucky enough to access the technology.

My personal concern is that our son is regressing daily and therefore there is a time issue when it comes to narrowing down on what is causing his condition.  Without a cause there is no definitive cure.  Why do these tests take so much time? 

Maximus has been a case of much interest to many disciplines in this hospital, however three areas that may hold crucial answers to his condition are endocrine, metabolic and genetic, all of which have arrived at a stalemate. 

This is how I see the road they are on; first they had to rule out the obvious causes of his presentations, several nasty diseases were ruled out by the three departments. The next step is where the bridge collapsed.  Some referred to it as being like searching for a needle in a haystack.  Others just frankly stated that they have run out of ideas and no longer know what to test for.

So that leaves Maximus with no diagnosis and no further clues as to where to go next.  I understand that this comes down to one major issue; money.  It obviously starts to cost too much money to get these tests done, this is only one patient in a hospital of hundreds of thousands of patients, they understandably cannot justify this kind of spending without being very certain of what they are testing for.   

Or does Genome sequencing mean these tests do in fact exist but they are not attainable to the average 2.5 year old from Melbourne?  You can probably imagine how this feels for us; helplessness is one word that comes to mind.

If it is true that rare and undiagnosed diseases may hold the key and clues to many other medical mysteries, then this should be a priority that provision of extensive tests for these most rarer presentations be supported.

Will genetics give us some answers

I won't profess to understanding how it works or the politics, all I can say is I wish genetics were able to do more for my son, as I believe the answers are out there somewhere.

I have often wondered why my partner, my elder son, nor I have been approached for genetic testing to assist in Maxi's case, I wonder if I have missed something obvious or relevant reason why in this case this is not considered a necessary measure. 

I value and respect all genetic scientists as this is a breakthrough era of this science and being part of it must be very exciting.  I have enjoyed stories that I have found through my research by NIH Rare Disease Program and seen with my own eyes the difference they have made to people and how it has then helped them understand broader public health issues as a result.

This is not where it all ends or starts either. If by miracle a diagnosis is made, in the cases where genetic scientists have found creating orphan drugs will help save a life, they have not been able to pass it through the stringent rules in government in a timely manner.  So there are many roadblocks in this area, which is understandable as there is also cultural and ethical opinions that weigh heavily on this industry. 

Medicine is something we believe in wholeheartedly, accessing the best possible care is what all parents desire, we are hopeful genetics can invest in our boy and others like him, before it's too late. 

Our campaign

Always wanting to do more; when we were told that a brain biopsy of the lesions in his corpus callosum was an imminent possibility, we launched a public social media campaign to try and find out what's wrong with Maxi. 

Our website which is called whatswrongwithmaxi.com, has had over 10,000 hits and Maxi has also been the subject of a couple of media stories. We continue our search and have recently begun the process with the blessings of his doctors to apply for the Undiagnosed Disease Program in Maryland. If he is accepted, which is a long shot, I am confident that genome sequencing will be part of their testing. 

In summary I want to highlight that whilst facing our own struggles with having an undiagnosed son, we also see the struggles that the genetics field faces when it comes to treating our son in an effective and timely manner.  

We have full confidence in the world class doctors treating Maximus at RCH, and feel we are in the best hands we could be, given this is a teaching hospital and there are so many resources available.  We are also aware that there is little chance even with genome sequencing that we will ever know what is wrong with our son, but when faced with something so frightening threatening our baby's life, we must leave no stone unturned. 

Thank you for this opportunity to share my story and experience.

For an update on Maxi, read the Seven news article 'US trial next step in search for a cure for Maxi' here.

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