N is for…Neurofibromatosis (NF1)

So tomorrow we find out of our 20 month old son Mayhem has neurofibromatosis, or NF1.  He’s had a pretty rough start to his little life so far health wise. By 10 weeks old he’d had 3 tongue tie divisions. By ten months old he’d had over 8 A&E admissions and over 8 weeks in hospital; which culminated in a CT scan, tumour biopsy and surgery to remove a massive benign teratoma.  Like I said, a pretty rough start.

Since getting rid of the ‘monstrous tumour ‘his recovery has been amazing and we’re so spectacularly proud of our little trooper. He’s had lots of check ups on his heart, as the tumour was attached to it and squished it but everything has gone fantastically well.   He’s also had follow ups with an Oncologist and another CT scan to give him he all clear.  Although the tumour has gone, there is a possibility it could regrow.  Doctors don’t really know why tumours like Teratomas are formed, they are just rogue cells, or confused cells

During a check up with his Oncologist she noticed that Mayhem had, what I thought was a large freckle, but she described as a café-au-lait spot.  I’d noticed he had a few more but with everything else I didn’t really think about them.  I have loads of freckles and just assumed that’s what they were.  But our Oncologist is extremely thorough so she referred us to see a Geneticist.  BOOM!  Mayhem could have a condition called neurofibromatosis, or NF1, a genetic condition that can be hereditary or 50% of cases can also be spontaneous.

Mayhem actually has six café-au-lait spots, and the guideline is six or more might be an indicator of having NF1.  Another indicator to see if  he has the condition is to complete an eye examination to see if he has any Lisch nodules, tiny, noncancerous bumps on the iris.  So tomorrow we are off to the Coimbra University Paediatric Hospital, which, by the way is absolutely fantastic.  The level of care Mayhem has received there is brilliant.  Before we came to Portugal we were warned about the Portuguese health system, that it was terrible, but actually, that’s far from the truth.  Your local GP isn’t the best, but the hospitals have a much better reputation and Coimbra University Hospital is world renowned.

Whilst we are there the good people at the hospital have also squeezed in all of his specialist appointments.  We start with the Ophthalmologist for THE important eye exam, then onto the Geneticist to find out if our son could have health issues for the rest of his life.  God, I hope not… Then back to the Oncologist and finally the Cardiologist for check-ups.  All in all a pretty full-on day.  Cross everything that we have good news!

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