The day I first heard the word Neurofibromatosis

 

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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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How do you explain they won’t ‘get better’?

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If I had a pound for every time someone told me my children will ‘grow out it’, or ‘be fine when they are older’, I would be a rich woman. People expect you get ill or have difficulties for a short time, you have a period of struggling, and then you ‘get better’. You ‘get over it’ or ‘snap out of it’, or you have an operation or take medication, and then you become ‘normal’ again and function like everyone else.

But what if the difficulties and struggles are life long? What if you won’t get ‘any better’ even if you improve?

It is three years this month since we received my sons first major diagnosis. Though the initial shock and pain has eased I still get sad some days. Because three years on we are still in that same place.

He still has the exact same diagnosis. He hasn’t been cured. He hasn’t went into remission or stopped having his difficulties. I can’t read his diagnosis report and think they are talking about an altogether different child than the one sitting on my knee.

Yes he is making progress. But it is slow. And in spurts. And sometimes we still get regression. Oh are we allowed to mention that? The dreaded ‘regression’ word? Am I allowed to admit that sometimes my children struggle more than they did before? Or lose a skill they previously mastered?

How do you explain they won’t ‘get better’?

It sure looks like my son is getting better. After all for 678 days all he wore was the same red school jumper yet all of a sudden now he will wear other tops? That sounds like improvement. And it is! My daughter has started to master reading and writing. Surely that is her ‘getting better’ you suggest? And yes it seems so.

On the surface my children are both coming on well. We have had a recent successful play date, we have had them taking part in school activities I never dreamt they would ever manage, and two weeks into the summer holidays we have managed some days out and visits to parks. It seems like everything is ‘getting better’. It seems like to some that all is well.

Because people find the life-long bit so hard to understand. People see what they want to see. And after a while they get bored with seeing the same struggles, the same excuses and the same problems. People want to help and get upset when they do help but the problems still exists even when they have done everything they can to support. We look for quick fixes and short-term solutions and life long conditions need on-going, energy draining, never-ending support. It requires a commitment few are willing to make.

It is hard for people to understand why three years down the journey I still get sad some days. Why? Well because some days it feels like I am still where I was three years ago. It hasn’t gone away. And it never will.

There is no cure.

My daughter may ‘get better’ at social situations but it will never quite come naturally to her.
She may ‘get better’ at understanding that not all language is literal in meaning. But idioms and sarcasm will always need explaining to her with patience and understanding.
My son may ‘get better’ at being understood without any speech. He may one day learn to communicate via a device or language or pictures. But he will always have severe communication difficulties to some degree.
My son will never ‘catch up’ with his peers. He is not suddenly going to run a race, or write a story or learn to swim. He may never speak.
I have no idea when they might master potty training.

We are in this for the long haul. When others get ‘bored’ and move on we will still be here. We will still be struggling on.

Doctor’s can’t ‘cure’ my children. They won’t ‘get well soon’ or ‘grow out of it’. It won’t ‘magically disappear’ when they get older or become teenagers. In fact it may magnify.

You may not see them struggle but they do. It may seem ‘cute’ to flap and suck on your clothes at six but whimageat about sixteen? It may seem ok to have your tongue out all the time at six but what about ten? Or thirty?

My children have autism. My son has neurofibromatosis. They will become adults with autism one day and my son will become an adult with NF. His tumours will grow with him and his skin will grow fibromas and patches throughout his life. He will become an adult with social and communication difficulties and a learning disability.

They will ‘get better’ at developing a thick skin and coping with ridicule. They will ‘get better’ at devising coping strategies and becoming a part of society in some way or other.

But they won’t ever ‘get better’ from their life long conditions. And I may never ‘get better’ at coping either.

I may have more good days now than bad. But some days I am right back where I started three years ago. Life long condition means a life long journey. I know some people find that hard to deal with. But you know what? So do I.

Why can’t they take away his tumours?

I try not to think too much about my child’s medical condition. His classic autism I can deal with (well most of the time anyway), even the fact that at six years and six months old he has no language is just about bearable. The fact he has global delay and has the understanding of a young toddler is hard, but something that might improve. But when I talk about the fact my child has this condition called neurofibromatosis type 1 my heart still breaks, even though we have been living with it for over two years now.

This is not easy to write about but if it helps just one person then I feel I have to talk about it.

This handsome boy, full of life and energy and mischief, has a body that keeps making tumours!

imageAnd there is absolutely nothing I can do about that!

You see I know about autism. I can sit with him and work on that. He might never speak but there has been huge investment in autism and so many resources available. I can use the internet to access photographs, or even take some on his iPad that he can have instant access to. Then there is picture exchange communication that one day he may be able to understand. There is also makaton and British sign language. He can take me by the hand to things he wants and we can help his socialisation skills by taking him to a wide variety of places and hopefully in time introducing basic social stories.

I know he will always have autism. But the likelihood is he will improve, even if not by a lot.

I know about his global developmental delay. We can work on his physical skills, one day eventually we may even be able to toilet train him, and in time he may be able to use cutlery, wash himself, dress himself and learn basic life skills. Children with global developmental delay, especially to the level of Isaac, may never catch up with their peers but he will improve, even if he always needs support.

But his neurofibromatosis type 1? Well that is just another thing altogether!

I am educated and willing to learn. I know about the physical features like his large head, his skins marks (cafe au lait marks because they look like coffee stains) and his small height. I know that some of his learning difficulties is also due to his NF1 and that genetically he inherited the gene from his father. I see glimpses of how his body may look as he ages by looking at my husband. We know he will most likely get freckles under his arm pits, his cafe au lait marks will increase and grow, and he will most likely have fibromas (small tumours on his skin). Those are all things we can cope with. And I am sure Isaac will cope with them too.

imageimage imageIt’s just the unknown. The fact that when you say to people he has tumours the first thing they say is ‘does he have cancer?’, followed by the inevitable, ‘why can’t they take them away?’. That’s the hard bit. No he doesn’t have cancer, for which we are incredibly thankful. But he also can’t be cured. And should he develop certain tumours on his spine, or eyes, for example, he may one day require chemotherapy. But unlike cancer, there will never be the option of no longer having tumours.

He will always have autism. He will most likely always have global delay (although that may change to learning difficulties as he ages) and he will always have neurofibromatosis type 1. But unlike the others his NF MAY be stable, mild and not require treatment or it may throw up hurdles we don’t want to even think about. Of course we hope and pray for the former and reassure ourselves this is how it has been for my husband.

Why can’t they take away his tumours? Sadly he would just produce more. And more. And more.

Do I want a cure for autism? Sometimes when I have tough days and my son is not able to be understood and is frustrated yes. When I spend longer watching lift doors with him than I do sleeping some weeks? Maybe. Would I like a cure for his global delay? Partly, but then he is slowly achieving things and I know in his own time he will get there. Would I like a cure for neurofibromatosis? Yes I would.

But then I look into these big brown eyes and I think I couldn’t possibly love this boy any more than I do. And I know whatever the future holds…well we’ll get through it…one lift at a time!
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