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!

Bad hair day?

I found this poem by Pablo Neruda poem about 2 weeks ago and I have been reading and re-reading it ever since.  I am trying to stop myself getting into unnecessary and draining arguments with my children about clothes, hair brushing and washing.  If anything will help you move the goal posts about appearance this will!


TO WASH A CHILD

by Pablo Neruda

Only the most ancient love on earth

will wash and comb the statue of the children,

straighten the feet and knees.

The water rises, the soap slithers,

and the pure body comes up to breathe

the air of flowers and motherhood.

Oh, the sharp watchfulness,

the sweet deception,

the lukewarm struggle!

Now the hair is a tangled

pelt crisscrossed by charcoal,

by sawdust and oil,

soot, wiring, crabs,

until love, in its patience,

sets up buckets and sponges,

combs and towels,

and, out of scrubbing and combing, amber,

primal scrupulousness, jasmines

has emerged the child, newer still,

running from the mother's arms

to clamber again on its cyclone,

go looking for mud, oil, urine and ink,

hurt itself, roll about on the stones.

Thus, newly washed, the child springs into life,

for later, it will have time for nothing more

than keeping clean, but with the life lacking.


This is what we have found in the woods in the last week: a badger set (and saw badger one evening but no photo), a poor little weasel who had curled up and died, a rabbit saved unharmed but shocked from soft mouth of our dog, our dog in one of the many old hedgerows we are lucky to have around here and a field full of dandelions,  in a meadow like this they are spectacular.  Finally the glorious bluebells.

The fact is that the issue was never around  messy clothes for painting, walking, exploring etc, on that we all agree.   When it is time to go to theatre, out to lunch etc, that is when the   arguments start.  Post Pablo Neruda's advice though I have been allowing anything, however ripped and worn out as long as it has been washed... I wonder how long I will be able to keep this going?

Birthday presents that cost nothing but time!

I am an occasional watcher of gardner's world and have often dreamed of having an army of helpers to prepare my soil like Monty Don clearly has.  Now I can't afford that, so this year as my birthday approached and I got the usual queries "what would you like?" I said to family, please please instead of presents could you all come and help in my garden.  Some members said oh we still want to give you something and I replied no, what  you don't realise is I do really want you to work not just sit around chatting.

So the day dawned on Saturday not with the best weather forecast but not complete disaster.

First get the children sorted:  they chose the patio  weeding, with extra incentive of barbeque sausages in the evening.  What a    fab result!  (sorry no "before" photos I took all of these the next day on saturday too busy working)

They did extra work (without any prompting) of cutting a path out of the back of the garden to the fields behind our garden.

My youngest sister, who had rashly put a "head gardner" voucher in her birthday card to me, was given the job (needless to say no one else applied) and she headed the group working on vegetable garden at the  front of the house.  Now, not completely weed free but that is not really my style.    The paths are a bit of a nightmare, when we moved here 10years ago we brought with us a stash of old bricks (it is a long story which i will not bore you with) with which I got same sister's partner to layout this garden.  At the time I had romantic visions of creeping thyme between the bricks and so shunned idea of concrete inbetween the bricks.  Oh how I have cursed that, as repeatedly scrapping dandelions, bindweed, shepherds purse etc out of the spaces between the bricks.  The creeping thyme I had tried to establish long since taken off to more hospitable parts of garden.

Last year this plum tree had grown so much and was so laden with fruit that due to lack of any support it broke and half was lost to my lack of organisation.  Following Saturday it has a network that it will be lucky to reach in ten years (but if it goes on raining like this it might get to the top sooner).  Other wires were put up and repaired in various places so now do need to do the tying in.

Do I have the coldest garden in east anglia? the very first asparagus shoots coming up on 10th May benefited from the head gardener's sort out of compost bins.

This might not look that great but it shields the plastic oil tank and can be decorated in time and cost nothing being two old garage doors that had been salvaged.

The only problem being that the rain came pouring down so sausages had to be cooked in kitchen.  After a festive supper we braved the rain to go an look for  badger which we have been saying we would do for the last two years.  Despite the doom of my mother- the badgers will never come out in this etc, it turned out one of them was as mad as us.  No photo as would have needed under water camera to take shot.  The badger had clearly decided that it was too wet and was making a dash for warm burrow.  Fabulous end to a lovely day.

The 4th May in my garden

Like most people spring is such a special time for me, both out on walks and in my garden.  The reassurance I derive from the  spring flowers that come out so faithfully every year is very important to me.

One of those I look forward the most is the Amelanchier.  This year it is glorious.  The five petalled flowers are just loving this warm dry weather that we are enjoying now.  It is a mighty shrub but hard to photograph in its entirety, so here is a close up.  As I am sitting here I can not see the plant but the petals are floating past on the wind.

I painted a small sketch last year, below, now sold.

This year I have painted it at my bed room window in the early morning ( if you have read the previous posts you probably recognise the Winifred Nicholson window theme...).

The viburnum is another favourite is out and I can see it from the window by the computer but to appreciate the scent better to be right by it!

A very quick sketch of the viburnum a couple of weeks ago:

On the subject of scent I got a lovely surprise today when (finally) trimming back last years flower stalks from my old english lavender (large, late flowering, pale lavender variety).  The scent was overwhelming.

I am now sitting typing this imbibing the gorgeous aroma of the clippings and re reading a fabulous poem by Pablo_Neruda‎  which came to mind.  It is about the scent of a Peumo Tree, do go to this link for a charming website about Chilean plants.  As usual with his poems, I don't really understand this but the feeling evoked by a the scent of a plant is something I can relate to.


Peumo Tree
Pablo Neruda

I broke a glossy woodland leaf: a sweet
aroma of cut edges
brushed me like a deep wing that flew
from the earth, from afar, from never.
Peumo, then I saw your foliage, your minute,
curly verdure, cover its earthly trunk
and your fragrant breadth with its impulses.
I thought how you're my entire land: my flag
must have a peumo's aroma when it unfurls,
a smell of frontiers that suddenly
enter you with the entire country in their current.
Pure peumo, fragrance of years and hair
in the wind, in the rain, beneath the mountain's
curvature with the sound of water running
down to our roots, O love, O wild time
whose perfume can be born, issuing
from a leaf and filling us until we flood
the earth, like old buried pitchers!