Syndromes WIthout A Name Present Maxi’s Story at the Genetic Services Network Victoria Seminar

July 19, 2013

Yael’s Story: What’s Wrong With Maxi?

Who 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?

Read the full story here. 

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