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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Six things you may not know about my child with developmental delay

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The first diagnosis my son ever had was ‘global developmental delay’ and like so many I understood this to mean he was a little bit behind his peers but would probably, in time and with support, be just fine.

He was only one year old when we were told he was struggling and not meeting key milestones like sitting up unaided, making attempts at speech and playing with toys.

I was in denial. I was sad.

I stopped taking him places (probably one of the worst things I could have done in hindsight) and I ploughed through each day willing him to learn skills others mastered with ease. I blamed myself. I cried myself to sleep at night. I sang to him, read to him and played with him for hours, but very little changed.
As years went on we collected diagnosis like a stamp collector collects stamps.

The term developmental delay is now slowly being replaced by his doctors to ‘learning difficulties’and I have come to accept now that he never will catch up with others.

Over the last seven years I have found so few people have any understanding of what developmental delay actually means. It is such a huge, all encompassing, spectrum ranging from children with mild delays in some areas to children of school age still unable to weight bear or even support their own head. It covers children who are behind in reading and writing, to children who are fully wheelchair bound and unable to speak. It can be a stand alone diagnosis or the effect of other more complex issues like cerebral palsy, autism, Down’s syndrome and many complex genetic conditions (some we have yet to name!)

Though every child and situation is different, here are a few facts about developmental delay as it applies to my son:

1. Some children DO catch up, other’s don’t.

My beautiful son, will forever be developing at their own unique pace and time and will always need support right into adult life.

2. As a child gets older the term developmental delay is likely to disappear and instead be replaced by some form of learning difficulty or perhaps simply referred to in terms of severity of other conditions such as severe autism.

This does NOT mean the child no longer has delays just that the way of describing those delays has changed.

3. Although my son’s development is way behind others there is so much about him that will always be ‘age appropriate’.

For example he started eating solid food at the exact same time as other babies at around six month old. He lost his first tooth at aged 5 and he wears clothes for his chronological age, not his developmental age. His body continues to grow and develop even if his mind and skills are years younger. He will still go through puberty as he grows and he eats just as much as any other child his age.

4. Developmental delay is often unseen and therefore can often be classed as an invisible disability.

This does not make it any less difficult for the child or adult or the carers. If you see a much older child still being supervised in a toilet or not talking when you speak to them please think about the fact they may look ok but they could be struggling to understand or communicate.

5. Milestones are worth celebrating whatever age they happen.

Child development has stages that almost every child goes through regardless of when it happens. A child with developmental delay will go through the same stages just at a different time. For example they learn to sit, then crawl, then stand, then walk. Or they learn to make noise, then babble then the first word. If your five year old is babbling for the first time this is wonderful because at some point they may change that babble to a word. If your four year old can stand unaided then one day soon they may learn to walk.

6. Developmental delay does not define anyone.

Society may put pressure on people to succeed and compete but that does not mean that we have to. Life is not about the destination but about the journey. For some they are just enjoying the journey at a slower pace and that is every bit as wonderful as those who choose to run.

As Martin Luther King Jn says:
“If you can’t fly, then run. If you can’t run, then walk. If you can’t walk, then crawl, but whatever you do you have to keep moving forward.”

That, I can assure you, is what my son is doing. If he can move forward then I can too. However long this journey takes we are enjoying it together.

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The ‘R’ word I dread as a special needs parent

I don’t use the word dread lightly. This word fills me with fear and apprehension. Ever time I hear it is makes me feel physically sick. To hear this word spoken over any person, child or adult, is utterly heartbreaking. Yet parents of special needs children, especially those of children with progressive conditions affecting cognitive development, hear it often.

Regression.

I dread that word. It is a sad word. It signifies loss, going backwards, the lack of ability to do something the person was able to do before. And it is very, very real. And at times it is scary.

Every now and again I get accused of over sharing. Some people feel I video and photograph and talk about my children perhaps more than I should. But one of the reasons I do that is because of this dreaded ‘R’ word. It is because I NEED to remind myself my child was able to do something at some point because today he has no idea about it once again.

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Memories are what keeps me going.

So all children regress sometimes they say. That is very true. Stress, trauma, neglect, illness and change in family circumstances can all contribute to moments when any child can regress. It is common for a toddler, for example, to ‘forget’ the skill of toilet training when a younger baby is born. Or for a young child to take a few first steps only to lose nerve and go back to crawling for a while. It is widely understood that during illness or even long school holidays children can forget reading skills or physical skills they had long ago mastered. I get that. This is temporary regression. And, as hard as that is to live with, almost all children regain the previous skills and ‘make up time’ when their health, education and daily life return to a stable place again.

But how do you live with the fear of regression permanently?

What if every single skill your child gains you live in fear he will never be able to do again?

I have a video of my six year old son putting numbered pieces into an inset puzzle. It was a huge achievement for him and I shared the video on social media. Now a year later, and presented with the exact same puzzle, he has no idea how to do it.

And that is why I share.

He doesn’t master skills and then move on to better ones. His development is never that straight forward sadly. I need to be able to know he once did it. I need other people to know he once did it too. He has potential. It is just inconsistent.

He once said ‘mummy’. Last week he was saying what sounded like ‘oh no’. Some days he can point to letters in a book if I ask him to. School even sent a video home a few months ago of him ordering the months of the year with support. I have a video of him using a game on his iPad to put letters in the right place to make words.

Today he has done none of those things. Some days he crawls up stairs like he has forgotten how to climb them. He now uses a straw to drink out a cup because he often forgets how to drink out of an open beaker.

As fast as we gain one skill we often lose another.

My son has global delay, autism and neurofibromatosis type 1.

According to professionals this happens.

Regression.

I dread that word.

The most beautiful girl in the world

Reblogging as delighted to have this appear on The Mighty and Love What Matters

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Have you ever had a stranger do something so incredibly awesome it just makes you want to cry? I have. And it happened just this week. I pray the kindness and power of what the stranger did for me and my 4-year-old daughter impacts you the way it has impacted me. Some people make a mark on others lives that can never ever be erased.

We had went out as a family to a local place to eat. Everyday events like this have their challenges for every family but more so for mine due to the complexity of my sons needs and the fact we need to balance his needs with that of Naomi’s and somehow all need to get some chance of eating at least part of our meal. We could have chosen anywhere to eat but that night we opted for the local carvery. No waiting to get…

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