The Mighty Logo

The Medical Term That Transformed the Way I See My Son

The most helpful emails in health
Browse our free newsletters

We were sitting in the doctors office. We had been referred here by my son’s allergy doctor after she discovered my son did not have a peanut allergy but was indeed anaemic. We had been relieved after that initial appointment, a quick course of iron medication and life would be normal again. However we were sitting here, unsure as to why or what doctor we were even seeing.



He came in and introduced himself as a genetic doctor and explained he believed our 3-year-old son had neurofibromatosis type 1. I didn’t know how to say the word let alone what it entailed. I was reassured our son would not be affected: we had been through three years of his life not knowing anyway, right? I was then given the instruction not to google it. Of course I went home, googled the diagnosis that had been thrust upon us and cried, cried and then cried some more.

I read all about the world that suddenly, and without asking, I was apart of. That’s when I realized I had known all along. Of course, I didn’t know the full diagnosis, but I knew deep down ever since the first day my 2-week-old projectile vomited. When he wouldn’t drink his milk, when he learned to walk but couldn’t chase his cousins, when he spoke funny or birth marks starting appearing all over his body–I knew that it wasn’t meant to be like this.

Now here we are, two years later, awaiting for our son’s third MRI to find out if the brain tumors he has have grown. Waiting to find out if he will be started on chemotherapy to save his sight. Waiting to find out if the statement the school applied for has been a success because our son is actually affected by the neurofibromatosis.

He has tumors in his optic nerves, poor balance, poor coordination, hyper mobility syndrome, poor muscle tone and suffers sever fatigue. He struggles to hold a pencil, to run, to play to do anything his 5-year-old peers do. When I look at my precious 5-year-old son I see a little boy struggling to get his body to work for him. I see a little boy with a lifetime of battles to overcome.

For just one day I would love to look at my little boy and once again see a little boy that that falls over a lot, not the poor balance.

A little boy who struggles to run, not the hyper mobility.

A little boy that likes to cuddle up and read, not the severe fatigue.

My little boy, not the NF.

What I once thought were my son’s awkward traits have been replaced by a medical diagnosis. I know my son is kind, loving and generous. I know he loves Spider-Man and chocolate and DVD nights. I don’t know if he will need chemo, if he will lose his sight, If he has other unknown tumors inside his body just waiting to be found. I don’t know what his future holds and that’s the scary part.

For all of January, The Mighty is asking its readers this question: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

Want to end the stigma around disability? Like us on Facebook.

And sign up for what we hope will be your favorite thing to read at night.

Originally published: January 13, 2015
Want more of The Mighty?
You can find even more stories on our Home page. There, you’ll also find thoughts and questions by our community.
Take Me Home