The day I first heard the word Neurofibromatosis

 

Gwynne - 20151003 -41 - high

Diary entry December 2012:
I have just moved house with my newly turned 4 year old twins this week. We are living out of boxes and working our way through a garage full of our belongings and now we need to take time out today for yet another hospital appointment.

I am tired, stressed and hoping to simply receive the results of my son’s most recent 24 hour EEG. I already know he has classic autism and delayed development and last month marked a year since he took his first steps. He has yet to speak. He has yet to be potty trained. I have been reading. I know autism and epilepsy can be linked and I am praying if this is the cause of my baby’s seizures we can get this sorted today.

We arrive at the hospital. We wait.

Then they call his name.

I carry my baby boy into that doctor’s room kicking and screaming. There are two doctors in the room and I feel uneasy that something seems’off’ just looking at the thick notes the specialist has in front of her about my son. This is my baby; my longed for child. I ought to see a pile that thick of photos of him eating and playing and having fun, not a pile of medical reports about him. My son won’t stop screaming.

So we wait.

The doctor starts with asking about any updates. Have we noticed any further seizures? How is his general health? She then gently and carefully explains how my son’s EEG has come back ‘abnormal’ and that there was a lot of seizure activity noted. I don’t understand the technical reasons behind it but I do hear her saying ‘not epilepsy’. I start getting the children prepared to go home.

But she just sat there.

Somwe wait.

‘Are you aware your son has an abnormally large head?’

Well, yes I was very aware of this, especially compared to his twin sister.
‘Have you noticed any birth marks on him at all?

Well, yes doctor, but I would not worry about them as his dad has them too.
‘Would it be ok to have a look at them?’

I look at my son happily sitting on the bed pulling at the blue roll covering it for hygiene reasons and playing with it between his fingers. He would happily strip naked so he is never going to object to having his clothes taken off.

I sit there watching on as two medical professionals look in detail at my son’s body.

There is a way medical people look at each other when something isn’t right: a knowing look, a silent ‘are you thinking what I am thinking’ look, a look that says ‘will you tell them or me?’ We had seen that look just six months prior at the autism diagnosis. I never want to see ‘that’ look again. I am scared. I am curious. I am confused.

We wait.

And I am even more confused now the doctor isnasking if she can see my husbands birth marks too. He is 55. He can drive, live independently, has a job and no medical issues. It was just some marks and spots on his skin. What is the deal here? She asks my husband a few questions and then sits back down at her seat. My son returns to tearing up the blue roll and his sister sits on my knee quietly.

And then she says it:

‘Your son is presenting with autism, learning difficulties, seizures, a large head and, most importantly for us, over 8 prominent cafe au lait marks on his skin. Given the family history (what family history I wonder?), we both strongly suspect your son has a condition called Neurofibromatosis type 1. You will be referred to genetics and I will arrange for a nurse to come and do a home visit as soon as possible. Like your sons’s autism this is lifelong and there is no cure. Your son has simply inherited this from his father. I will see you again in six months time. Thank you for coming.’

At that we leave.

So that is it. At least she wrote it down for me.

From that day on we have waited. We wait to see if his health remains stable. We wait to see if any more tumours grow. We wait to see if his sight is affected.

On 3rd December 2012 I found out my child had neurofibromatosis type 1. All I can do now is wait. It is unpredictable and no-one can say how my son might be affected. All we can do is wait.

 

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6 thoughts on “The day I first heard the word Neurofibromatosis

  1. February 9, 2009 was the day my son was diagnosed with NF type 1. 3 months and 2 days before his 10th birthday. There is no family history of it so this was the first we ever heard of it. I remember driving 2 hours home from the neurologist feeling like I was hit by a bus. We went for him to be formally diagnosed with migraines and came out with not only the migraine diagnosis but the NF diagnosis as well. I googled it as soon as I got home and cried. I was horrified at what I had read and the pictures I had seen. We have now grown accustomed to mri’s every 6 months and the reality that these stupid tumors can change at any time. It’s definitely not any less scary now than it was in 2009 but I’m very thankful for the families I have befriended along the way. One of the things I’ve learned is that anything is possible and to never give up hope. Sometimes hope is all that gets us through the day.

    Liked by 1 person

  2. Pingback: The day I first heard the word Neurofibromatosis | faithmummy

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