The Diagnosis

On the 12th of February 2013 we received some good news. Actually, I guess it’s all relative and I’m not sure there are many parents who could claim that having their 2.5yr old son being diagnosed with Acute Lymphoblastic Leukemia is good but for us it was a better than expected outcome.
Edward was diagnosed at birth with Niemann Pick Disease Type C, a rare and life limiting neurodegenerative metabolic disease. Up until November of 2012 Edward had experienced reasonably good health. A Gastrostomy inserted at 12 months to support is low appetite, a delay in walking due to low muscle tone and 6 monthly checkup at the hospital was pretty much all we had to deal with.
In November of 2012 he was hospitalised twice for Pneumonia and never really seemed to bounce back to the full health he had previously experienced. The Christmas holidays were a little draining as he seemed to be generally low level unwell but soldiered on like a trouper as he always does.
The first week in Jaunaury he became extremely unwell with a “virus” and was hospitalised again. Paraflu Virus was found this time but I was still not convinced this was the cause of his general ill health and low grade feeling of being unwell. He bounced back again as he does and was discharged with terrible blood results which they hoped were caused by the virus. It was hoped that his blood count would slowly recover overtime.
But things just didnt seem to make since or correlate with his NPC Disease. Despite terrible blood results causing him to bruise at the slightest bump he was continuing to develop well. He was walking and talking better than ever, two of the things we were constantly monitoring for and wondering if this was the beginning of the end- our greatest fear.
His bloods did not continue to improve and so it was decided that they would conduct a bone marrow biopsy on the 12th of January. Both Pete and I knew the results were not going to be great and whilst we couldn’t really find any correlation between low heamoglobin levels and NPC our biggest fear was that they would confirm his NPC was progressing- the beginning of the end had begun.
It’s an understatement to say that when the ALL diagnosis came all of us, including his Doctors were totally shocked as both diseases are totally separate and unrelated. It was unbelievable that this poor little guy could be struck by lightening twice.
The road ahead is going to be rough, ready and the journey hard but hopefully we will all be able to pull through this together and come out the end with a smile on our face. I guess life is a journey not a destination.


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