The ‘scaniexty’ I live with when my child has NF1


He was four years, three weeks and five days old when I left the hospital with a piece of paper with the words ‘neurofibromatosis type 1’ scribbled on from a doctor I had only just met.

 
The more I googled the more upset I got.

 
Would you not be anxious if your baby was diagnosed with an incurable progressive genetic condition? 

 
IMG_1043Back then my biggest worry was seizures. The cafe-au-lait marks on his little body had meant nothing at all until that day but now I read that their presence was a key marker for diagnosis. Another one we could tick was developmental delay, another large head, and still another freckles under his arms. It meant the doctor was right and as I read on about complications and tests my mind began to panic. The condition causes benign tumours to grow anywhere on the nerves of the body causing a large variety of difficulties including scoliosis, vision impairment, bone deformities, epilepsy, learning difficulties and facial deformity. 

 
As the tumours can only be seen properly by MRI my first thought was should my little brown haired boy have to have anaesthetic to have a brain and body scan?

 
This was my first taste of the form of anxiety that is common with parents whose children have NF1: SCANIETY, a form of anxiety that is associated with having scans and waiting for results. You won’t find that word in a dictionary but parents of children with NF1 understand it and struggle with it so much.

 
You may never have heard of it but we live with it none the less. 

 
Before our child ever has their first scan we still suffer with it. The ‘what-if’s’ of thinking should he/she have an MRI and if so how do we convince doctors to give them one? In some areas it is standard procedure to scan a child soon after diagnosis to have a ‘base line’ to work from but for so many others this expensive test is only given when there is a clinical need. Parental anxiety is not always recognised as a clinical need so many families find themselves fighting for a scan to find out if their child has any internal tumours and if so where.

 
My son was 7 years, six months, one week and two days old when he finally had his first MRI. From the moment I received the appointment I was anxious. It was going to be the first of many times he would require anaesthetic. How would he cope? How would I arrange care for his sibling? Would be need to stay overnight? What might they find? When will we get the results?

 

Scaniexty is scary.

 

My whole life was suddenly out of control and everything rested on the results of this scan.

 
Two weeks and five days later I had a phone call from the doctor. Could we come to the hospital the following day as a matter of urgency to discuss the results.

 
Scaniexty hit again with a vengeance. They had found something. 

 
They discovered a number of things from that first scan. My son had a serious eye condition unrelated to his NF1 which meant he had no sight in one eye. On the other eye he had something called an optic glioma which so many NF parents dread: a tumour on his optic nerve. A group of oncologists discussed my child’s case and decided, for now, no treatment was needed. We were sent home.

 
Scanxiety never left me though.

 
In six months time we would be back for another scan. My mind could not ignore that. He had a scan, they found a tumour, next time there could be more.

 
What should have been a six month wait until the next one turned into an agonising ten months before we finally had our next scan on 3rd March this year. The scaniexty of waiting for that second scan was awful. The day of the scan was awful. Waiting on the results is awful.

 
When your child has NF1 scaniexty never leaves you. 

 
This time the results showed the original tumour was stable but he also has brain lesions, one of which is large, and these are a direct result of his NF1 too.

 
We live with the constant worry he may one day need chemotherapy. We live with the worry he could go blind due to his optic glioma since he has no sight in his other eye at all. We live with the worry they may one day they could find a tumour that keeps growing.

 
I live with anxiety as a mum to a child with NF1. That anxiety is deeply connected to the fact my son needs ongoing scans for the rest of his life.

 
There is no cure for NF1 and there is no cure for the scaniexty it brings either.

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Could Your Child’s Lack Of Eye Contact Be More Than Just Autism?

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My son has autism spectrum disorder. That no doubt explains a lot about the picture of him above. Lack of eye contact is considered a classic sign of autism and it was indeed one of the first signs picked up in Isaac from a very young age.

What wasn’t picked up was the fact his lack of eye contact was much MORE than just autism and in fact was due to something much more worrying: as well as being autistic my son is also visually impaired.

His autism was diagnosed at age 3 and yet it took until age 8 for professionals to realise how poor his eyesight is.

This angers me as had he not been displaying other signs of autism such as communication difficulties, social challenges and repetitive behaviours, health professionals would have actually looked at his eyesight much earlier.

At age 4 he was diagnosed with the genetic condition neurofibromatosis type 1. It is widely known that this can lead to eye sight problems yet still no-one seemed to take my concerns about my sons eyes seriously.

img_0217At age 2 he would sit like this and look closely at a cushion for hours. I told his paediatrician, I told our family doctor, I told our health visitor…everyone told me it was ‘sensory’ and probably due to his autism. I foolishly believed them.

A few years later I recall taking a video of him in the garden. He was walking up and down the bushes in the garden feeling them as he walked repetitively back and forth in a straight line. I showed that video to so many people. I knew something wasn’t right but all everyone said is ‘that is autism’, or ‘that is sensory’. My non verbal child was feeling the bushes because he could not see yet no-one noticed. That is heartbreaking.

img_0282I needed answers. We began attending an eye clinic where they were more concerned about training him to look at cards and spent years putting drops in his eyes. The specialist struggled because my child would meltdown and cry at every appointment so they just kept asking us to come back. Finally at age 6 he was given glasses…only 18 months later to find they were the complete opposite prescription to what he needed!

At age 7, after a huge fight, Isaac had an MRI and we received some concrete answers.

His lack of eye contact, his looking at items closely, his feeling of everything…was not JUST his autism…he actually had three separate and serious eye conditions.

My son DOES have autism. He also has Microphthalmia (small eye) and persistent hyper-plastic primary vitreous (PHPV) leading to loss of sight on his right eye and his left eye has an optic glioma (tumour) on his optic nerve!

What is the point of me saying all this? I am NOT out for sympathy. That does not help my child in any way. What I want this post to do is to make people aware that when professionals say ‘that is just autism’ it may NOT be. When it comes to poor eye contact autism is one of the first things professionals look at. But is is NOT the only reason a child may have poor eye contact.

Be aware. It may not be easy to do but despite the challenges it is worth getting your child’s eyesight tested.

Your child’s lack of eye contact could well just be caused by autism but it is always best to know for definite.

I wish we had realised that sooner.

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How Google Street Map Has Given One Non Verbal Autistic Boy a voice

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If there is one thing my son Isaac has taught me in the last 8 years it is this:

 
Communication is much more than words.

 

Isaac has severe autism. He has no spoken language. He has global delay, significant learning difficulties and NF1. He struggles with lots of things in life ,but yet there is one thing he excels at and has done for a few years now: he has taught himself to communicate via google street map!

It is a different way of communicating, but for him it works much better than speech or any traditional communication app.

Wherever I take Isaac, wether it is somewhere he is familiar with, or hundreds of miles away to a place he has never been before, he has a special talent of retracing the exact route once home using just google street map and his incredible memory.
In the summer of 2014 when he was just six year old we went on holiday to a cottage 120 miles from home yet a week later he retraced the exact route we travelled including stopping at the very same service station we took a comfort break at!

I was amazed that a child who has no understanding of numbers or letters and barely turned when his name was called could hold such an incredible talent. I was sure it was a one off.

img_6259He attends a school for children with complex needs and is transported there in transport alone for his own safety due to challenging behaviour and seizures. His school is 14 miles from home yet he takes himself there by memory via google street map every afternoon once home and sitting in ‘his’ chair. I put this ability down to the fact he does the same journey daily. I wondered if he had the location stored.

One day I watched him.

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What I witnessed gave me an insight into part of his world I can never be a part of and which he could never tell me about. Watching him use google street map gave me peace of mind as he showed me step by step the route his taxi goes and even where the car parks to get him out…in fact he even took me to the door of the building he goes into! All without speaking a single word

He uses google street map for his every communication need now.

If he is hungry he goes onto the street map and travels from his home address to a restaurant nearby and brings his iPad to me to show me.
If he wants to go out he uses google street map to show me where he wants to go, from the church he goes to every week, to the train station, and the local park. He takes himself to his grans house and to shopping centres to tell me he wants to go and watch lifts.
He has discovered he can enter a local hotel using google street map and this has opened up new unique ways for him to communicate too.
He tells me when he requires his continence products changed by taking himself to the hotel, going inside and finding the toilets!
He goes into rooms in the hotels and finds an ensuite to communicate he wants a bath at night. When ready for bed he moves around the rooms until he finds a bed and points to it.
He finds my car in the driveway to ask to go in the car.
He finds a clothes shop in the high street to ask me to get him dressed.
When he was highly distressed one day and I could not stop him screaming I put on google street map and he moved around until he found a house with a door open to show me that there was a door open somewhere he could see and this was what was causing his distress! I was in awe of his ability to find such an ingenious way to communicate.

Two weeks ago though he shocked me once again. He was more lethargic than usual and quiet (he may not speak but he makes a lot of noise!). He came and sat beside me and used his skill on google street map to take himself to the doctors surgery! For the first time ever he was able to communicate that he was feeling unwell! This was incredible. I cried. It was nothing serious thankfully but to be able to say he communicated he was not feeling good to a doctor was amazing.

Isaac is not a genius. He can not write his own name, dress himself, read or write or use cutlery. He requires round the clock care. He can not speak one word. He is severely autistic yet he has found a way to connect with others that is as unique and special as he is.

Google street map has helped millions find their way in life but none more so than one non verbal autistic little boy named Isaac.

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Autism: should it affect medical treatment or not?

Everyone deserves the best medical treatment possible at all times. No life is worth less than another. What happens though when someone can not understand treatment, or convey pain, or communicate…should they be treated differently?

Here is my story.

My son is seven years old with a diagnosis of non verbal severe autism, learning difficulties and Neurofibromatosis type 1.
Let’s stop there and make this much more personal. Here is Isaac, a cheeky, lift loving, teddy chewing, energetic, loving seven year old.

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Isaac has had some major medical tests recently to help find out more about what is going on in his body and mind given his medical condition and difficulties communicating.

He had an EEG. This came back abnormal.

He had an MRI under general anaesthetic. Yesterday we had the results. He has microphthalmia is his right eye which means he has no vision at all in that eye. His left eye has an optic glioma, a type of brain tumour.

As I said Isaac has severe autism. Should this affect how he is treated for his optic glioma?

We have two options at present.

The first is watch and wait. The tumour may never grow and his vision may remain stable. No-one really knows.

This option relies on regular eye tests, regular MRi’s and the patient communicating any changes to his vision or health.

This is where autism poses a problem. Isaac has yet to be able to carry out a conventional eye test. He shows no interest in picture cards, can not identify numbers or letter consistently and has no means of communication or even understanding any changes to his vision. MRI scans involve general anaesthetic and therefore come with risks. The MRI can identify any tumour growth but has no way of knowing any symptoms the patient may be having.

Should my sons autism affect wether we take the risk of watch and wait?

The second option is chemotherapy. That comes with huge risks and is highly invasive. Isaac would have no understanding of the medical treatment and struggle with any changes. We would once again have no knowledge of how it would be affecting him as he has no language. This could make managing the treatment very problematic and challenging.

Do we risk chemotherapy on a child with such limitted understanding and awareness?

Before any of this happened to me I would have argued that no child should be treated any differently medically just because they have autism. The fact is you HAVE to treat them differently.

Whatever decision is made by my sons medical team in the next days and months will all come down to his autism as much as his medical challenges.

I trust my sons team. He has some very skilled medics on board but there will also be communication specialists too. Why? Because his autism DOES affect his medical treatment in a very big way.

I stand by what I said at the start. EVERYONE deserves the best medical treatment available at all times. It is just, in my sons case, autism has a major part to play in what the best medical treatment is. That is a fact we can not ignore.

The decision is somewhat out is my hands. Isaac has no say in it either.

Autism affects so much about my child and in his case it affects his medical treatment too.

I am so grateful for doctors who understanding this.

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We came to an understanding…

I had plans for this summer. My son also had plans. The difficulty was our plans were very different.

Isaac is six. He has autism and global delay. He has neurofibromatosis. He also has huge sensory issues, rigid thinking and a massive love of lifts and hand dryers. He has no spoken language.

So when school finished for seven and a half weeks his plans involved food (mostly mashed potato and gravy), lifts, hand dryers, food, hand dryers and more lifts…and maybe the occasional ride on a train.

I, on the other hand, wanted day trips, parks, picnics, garden play, road trips, time seeing family and shared adventures with him and his twin sister.

Someone had to give….

We came to an understanding and it went a bit like this:
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I took him to a park…and then we went to a local supermarket where he could see the hand dryers.

I got what I wanted. He got what he wanted.

We were both happy.

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I took him to soft play. He climbed about and even came back for a huge tight cuddle…which was his way of really saying ‘let’s go to the toilets now and see the wonderful hand dryers mum!’

So that is what we did.

He would play for a bit and then watch those dryers a bit more.

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I took him to pottery painting. He humoured me by putting on the apron (with support) and putting a tiny amount of paint on his model…and then he tore that apron right off and found the toilets to look for a hand dryer!

He has no problem communicating what he wants when it comes to his agenda…

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I took him took him on a train ride to a big city. His favourite place there was the lift at the train station! Nothing else mattered.

We traveled for an hour by train just to see a lift! But you have never seen a happier boy than Isaac was at that lift!

By now we were coming to an understanding.

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I decided to try to have a day without lifts or hand dryers…

I took him to the park again. This time all he wanted was the bushes at the side of the path! He felt them, watched them, heard them and even licked them. Well, what else did I think he would do at the play park?

This is life with Isaac. He had no idea others were staring at him.

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We had an invite to a family event at a local restaurant. Isaac made me so proud sitting at a large table and eating his meal (mostly using cutlery) and even having some pudding. But that was followed by an full 20 minutes in the toilets at the…well I think you probably know by now where he wanted to go to.

It wasn’t like I was hoping to speak to those relatives anyway…

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A charity invited us for a day trip to the safari park. Isaac showed not one second of interest in any animal. In fact he never even glanced at them.

But when he saw a sign for toilets he smiled, ran, and flapped with excitement.

I don’t expect he will go into veterinary care when he is older…

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I took him and his sister on a steam train ride. He did enjoy looking out the window at the passing scenery and he did enjoy eating in the cafe. But if he could talk I am pretty sure his highlight would have been that the toilets had his favourite hand dryers in…the ones with buttons to press.

It is what it is. He sees the world in a very different way. And sometimes just having him with me is a bonus.

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By the end I just decided to run with it. I only had to look at the excitement in his eyes and the happiness on his face to know that lifts and hand dryers are the most important things in his life. And if I want to get anything achieved these are the motivating factors to use.

I still would have preferred to have spent summer building sand castles, eating ice-cream, visiting castles and museums and time together as a family building memories. Hand dryers are loud, functional things that I would use only to…well dry my hands really! Lifts are convenient and quick ways to change levels…and that is when my interest ends.

But love takes you to places and has you do things in life you don’t expect.

And so I have spent an insubordinate amount of time this summer listening to hand dryers and watching lifts. And in his own way we have had fun. I had my day trips, parks, picnics and quality time with my son. And he had his fixations.

Life is about compromise. Love is amount accepting someone,however different to you they are, and not always wanting to change them. Making things work is about coming to an understanding.

I have had a lovely summer. Isaac has had a magical time. We just spent our quality time in places I never really imagined.

Even his twin sister seems to have come to an understanding…image

He is there

imageCompanies often have silent partners. Many businesses and charities do too. It is a highly successful strategy that brings stability, maturity, and grounding to an organisation.

Yet people are quick to judge when it seems a marriage has the same balance.

Sometimes I go to meetings for my children on my own. I send emails on my own and answer and make phone calls mostly on my own.

But that does not mean I am truly on my own. You may not see him, but my ‘silent partner’ is there. My children have a father. I have a husband.

And there is a reason why he is more ‘behind the scenes’ than some people would like.

Everyone copes differently. That does not mean that any one way is right. And we all have different strengths.

I find social situations quite enjoyable. My ‘silent partner’ does not.
Meetings rarely make me nervous or intimidated. My soul mate finds them heavy, frustrating and stressful.
I find talking openly about my children’s difficulties fairly straightforward. Communication is one of my strong points. My husband finds this difficult and draining.
I quite enjoy form filling. For my partner this is like sticking pins in himself.
I find multi-tasking comes as second nature. For my lover this is confusing and he would much rather finish one task before moving onto the next. Interruptions like unexpected phone calls, cancelled meetings and children’s illness cause him to become anxious and flustered.
It is second nature to me to put the ‘right’ jumper on the right child, make sure the food is not touching on the plate, and do up the buttons on their coat in the ‘right’ order. But the stress of ensuring things are ‘just right’ for our autistic twins can become overwhelming for my husband. The slight change of detail can throw either one of our children into a screaming meltdown that lasts all night, so his fears are both real and understandable.
Homework is a mystery for my partner. He struggled though school and finds modern ways of doing things confusing.
Dealing with a screaming child who can not speak limits my partners patience. And I totally understand that. I am far from perfect and my patience runs thin at times too.

It doesn’t help that both our children have complex needs. They both thrive on routine and have rigid ways of doing things. They are more relaxed when the same person does the same thing everyday. They need the same words used, the same voice, the same physical touch and way of doing things. So they both cling to mum as if their life depended on it. In many ways it does.

But they know, just as much as I do, that dad is still there. He may seem in the background. But he is there.image

Some of you will be saying right now that my ‘silent partner’ is just a typical man. Some may be annoyed he is leaving more to me. Some of you may even wonder if he understands it all. A few may even feel he doesn’t care.

Let me tell you something: He cares. He loves. And he sees. He is very much here.

But there is something I feel people should know about this very important ‘silent partner’ in my life: My husband has neurofibromatosis type 1. The exact same genetic tumour producing condition our son has.

Some of his struggles are due to his upbringing, his personality, his age, or his lack of support in school. But some of it is because he has NF1. That affects his way of thinking, his behaviour, and his personality. It is part of him. It makes him less confident, means he struggles more with some academic things and he may seem less social. It is all too easy to judge his ‘silence’ as lack of caring or interest. That could not be further from the truth. I never knew he had NF when I married him. But even if I had it would not have affected my love for him.

Sometimes the most amazing support comes from someone just silently holding you, listening as you pour out your heart. Often that silent partner is the one with the wisdom, insight and calmness to hold it all together. Sometimes the most powerful thing anyone can do is just be there.

He has neurofibromatosis. He isn’t as ‘in your face’ as I am. He isn’t as known to all the professionals dealing with our children as I am. He doesn’t write in the home school diary, or read the bedtime story.

But he does something very important. For me. And for his children.

He is there.

And we all love him.

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When everyone wants a piece of you

Another day. Another appointment. Another night of being woken through the night. More phone calls. More screaming. More bodily waste to clean up. More pressure. Never-ending stress.

Every parent gets stressed. Everyone needs a break at times from the 24-7 demands of raising children. But sometimes the added pressure of having children with additional support needs just becomes overwhelming when the days and nights become one, the paperwork piles up and everyone wants a piece of you.

What do you do when a professional calls you and you need to take the call yet your child needs your urgent attention at the same time (I could list any number of things they could be doing here like smearing faeces, climbing in a bath of water fully clothed, feeding the fish a tub of sudacream, eating frozen food from the freezer or escaping out of a window or door)? What do you do when you HAVE to find the time to complete urgent paperwork but your eyes can barely stay open and your mind can not focus due to exhaustion? How do you explain to a child with very limited understanding that their routine needs to change to go to yet another hospital or clinic appointment? What do you do when one professional says one thing and another disagrees and you are caught in the middle? How do you cope when mealtimes make you cry because your child just won’t eat and the other one just won’t stop eating? How do you remain at peace when your child comes home from school wearing clothes for the opposite sex because yet again he has gone through four pairs of trousers in a school day even whilst wearing nappies?

Everyone wants a piece of me.

I am expected to turn up at meetings and act professionally even when at times my heart is breaking. Crying is meant to be reserved for the privacy of your own home and only makes professionals question your mental stability if seen in public.

I am expected to follow through programmes designed by professionals who think they know my child better than me and who think I have nothing to do other than run with their latest plan.

I am expected to answer phone calls and emails in a timely, professional manner as if working in an office environment while the washing machine is spinning in the background, the children have technology at full blast (what other volume is there?) and the window cleaner is knocking my door asking for money.

I am expected to turn up to the right appointment, at the right day and time, with the right child, focussed, prepared and calm with a child who is alert, receptive and willing to participate in whatever therapy they are having today. And all this with a smile on my face and an enthusiasm for the programme.

I am expected to do homework with my children, take them to activities to ‘broaden their horizons and stimulate their interests’, give them a healthy diet and exercise, nurture their talents and spend quality time with them, when in reality we spend our evenings making chicken nuggets for tea again, watching the same programme on TV for the fiftieth time and coping with screaming children, toys and technology being thrown across the room and being physically attacked because I dared to run them a bath!

Schools expect me to jump at the first mention of ‘parent involvement’, hospitals expect me to fly my children to appointments (well they certainly don’t expect me to park given the lack of spaces they provide!), social workers expect to come to a house that is well run, clean, yet homely and comfortable, and my children need me to hold them, love them and help them all the time.

Yesterday I had one meal. It was one of those days. And the fact is I am not alone. There are so many parents in the same situation. Living with stress that is incredibly high, balancing meetings, appointments, therapies, professionals, children and the demands of running a home whist caring 24/7. Because despite the volume of people involved with my children it will still be me tonight who cooks them both tea, has clean clothes for them to wear to school tomorrow, reads them the bedtime story and kisses them goodnight. It will still be me who lies with them through the night while they cough or cry or scream.

It is me who knows them, protects them, loves them.

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Everyone wants a piece of me. But these two have a piece that no-one else can ever have. They have my heart. Every other piece of me can just wait while I take a moment to hold them. The phone can keep ringing, the post can wait a moment and the emails can stay unread just a little while longer. Whoever else wants or needs me these two always come first.