Obtaining a diagnosis for a developmentally delayed child

Obtaining a Diagnosis for a child

I have just listened to bbc r4 women's hour and heard the lady who had struggled to get a diagnosis have difficulty in talking about it.  I really felt for her as I am sure many others who have been ignored and belittled by doctors did too.
The positive is that there are some fabulous doctors out there who have learnt a rigorous diagnostic approach and apply it!  Lucky parents of developmentally delayed children who meet them first time.

This is my experience.

My son was a jolly baby as long as he was being held and had attention of at least one adult.  Well, quite  like lots of children you might say and in my female dominated extended family, everyone's reaction was "well he is a boy".  He was late to walk and talk but did get there, and he was generally happy, loved nursery and although hard work we managed.  He was referred to paediatrician at the age of 3, I think (I have to confess I have burnt all records predating his eventual correct diagnosis)  and after a few awful appointments in which he completely freaked out and behaved as I have never seen before they proposed to me that he was on the autistic spectrum and had global developmental delay.  Read, he was a bit weird and did not want to conform to their stereotypes and was behind on speech and understanding.  Notice this is not a diagnosis just a label for what they noticed about him in the  sessions when they saw him.  I could not accept this as my son was so empathetic and loving and so happy when at home, it just did not fit.

I avoided the problem by ignoring it but then he developed epilepsy and so hospital appointments became a necessity.   Whilst the hospital went on listing his symptoms we asked (prompted by a neighbour who suggested it) if he might have Fragile X syndrome.  Blood was taken and he was "tested".  We now know that the consultant, who never listened to me, did not carry out the correct gene sequencing test but just looked at chromosomes and pronounced that his genes were "normal".  Luckily for other reasons I asked to be referred to another hospital and we saw a group at Guys and St Thomas's, amongst whom was a paediatric neurologist called Tammy Hedderely, who we still see today.  She was a listener and she asked if she could do genetic tests and of course her instincts were right my son had Fragile X Syndrome a fault on the x chromosome which prevents him from making a vital protein normally present in the brain, controlling the communication between nerves.  The behaviour that looked like autistic spectrum to the doctors was due to extreme anxiety (bought on by hospital appointments, anxiety he did not experience in everyday life as a preschooler) which is the result of the Fragile X syndrome.

Strangely at the same time that the local hospital were not bothering to do proper gene tests on my son they were pouring money and time at my baby daughter who was not putting on weight and being sick all the time.   The consultant in this case was really nice and I trusted him completely, unfortunately nice is nice but not following simple procedures to diagnose what turned out to be a very simple fault in her stomach muscle cost the NHS a lot of money and my family a lot of stress.  In the end she was diagnosed by a GP in New Zealand over the phone with little more than the weights and measurements from red book read out to her and the doctor talking to me about my daughter and listening.  It came back to that again.  Many doctors take what they see as the only evidence (even to the extent in my daughters case of ignoring what her GP had said).  Clearly a parent will have seen a fuller picture of the child than a doctor who sees them for 30 mins a couple of times.

10 years on from that dreadful summer of 2003 I have two lovely children, one completely cured and one helped immensely by a proper diagnosis and so an understanding of what will help him to achieve the best out of life.  It is obviously anecdotal but might I can't help feeling it is relevant: both doctors who listened to me were female, the ones that did not were male.

I wanted to put a picture and just to show I am not against all male help here is Dash our male cocker spaniel, a better listener, companion, mood booster, incentive to exercise it would be hard to find.....he gets the children up in the morning too!

Finding Strength

Finding strength

On bad days like today, even harder when yesterday was such an amazingly good day, I have to try and find the strength to go on being patient with my son, who has fragile x syndrome.  As much as my family are brilliant at the end of the day it comes back to me and only me to keep things going at times.   My mother cleverly taught me about 10 years ago that I did not need to be alone at times like this.

Granny's vase with philedelphus and briar rose

10 years ago when I was going through a particularly difficult patch with Sasha my mother gave me my Granny's engagement ring which I wear most of the time along with another ring Granny left me when she died.   My mother said it would pass to me my Grandmother's strength of character and spirit.  Not sure I quite achieve what she did but nevertheless looking at it helps.  The living may not be able to help but the dead can, as their memories are always around and available.  

I painted the philedelphus at my mother's house.  The vase is one of a pair  that came from my Granny.  This is a photo of the set up.  I changed the background afterwards, much as I love my mother's curtains the vase and flowers all muddled up seemed too much.  Looking at it today I am thinking I would like to do something simpler with that background which was so much part of my childhood.


In an exhibition I did last year at The Exchange Library in Saffron Walden I used Lyrical Ballads by Wordsworth and Coleridge as my inspiration as I do so often use them to keep my spirits up.  This is an extract from a poem by Wordsworth about a little girl who believes in the presence of her dead siblings paints such a beautiful picture of someone who absolutely feels the presence of the departed ones.  Strangely as I started writing this my son was shouting at me and continually asking for things but as I have started reading the poem and thinking of my grandmother the calm within me has passed on without me having to say a thing to him.

We are Seven

A simple child, dear brother Jim
That lightly drawn its breath
And feels its life in every limb
What should it know of death?

I met a little cottage girl:
She was eight years old, she said;
Her hair was thick with many a curl
That clustered round her head.

She has a rustic, woodland air,
And she was wildly clad;
her eyes were fair, and very fair;
Her beauty made me glad.

Sisters and brothers, little maid,
How many may your be?
How many? Seven in all she said,
And wondering looked at me.

 The little girl goes on to explain where they all are and it transpires two are in the graveyard.  Wordsworth protests that means they are gone but the girls insists:

"How many are you then," said I,
"If they two are in Heaven?"
The little maiden did reply
"O master! we are seven"

"But they are dead: those two are dead!
Their spirits are in Heaven!"
T'was throwing words away for still
The little maid would have her will,
And said "nay we are seven!"



And as if by magic as I corrected the punctuation on the poem, Sasha has fed the cat and is now stroking me.