Dear Doctor

Dear Medical Professional,

You will ask about his medical history,
And I will repeat the story I have told 100 times or more,
The details fine tuned to the essentials I know you need:
He was born full term,
He has a 7 year old brother who is fit and well,
He is allergic to penicillin. 

You will ask me what happened,
And I will answer:
He is 6 years old.
He wasn't breathing for 7 minutes.
I gave him mouth to mouth.

I will hand over a careful typed piece of A4 paper.
It will tell you his hospital number,
The things he is allergic to,
A list of medications and doses.
You will take it and smile.
You'll tell me I make your job easier.

I will stand calm,
And in control.  You see my demeanour,
my hospital bags packed and ready,
And you say,
You've done this before.
I'll nod and say many times.

But remember this; That 6 year old is my baby.

That boy with the oxygen,
And the wires,
And the tubes,
Is my son.

I watched him turn blue. The first time,
The fifth time,
The hundred and fifty fifth time...
It was still …

The Hunt for a Diagnosis: The Science Bit.


The UK’s first Undiagnosed Children’s Awareness Day is on Saturday 13th April, so in order to do my bit and raise awareness for such a worthy cause, I’m going to take you right back to the beginning and explain my Little H’s lack of diagnosis.  Today’s the Science Bit – it’s all about chromosomes and genetics and translocations and things I’d no knowledge of until Little H came along and wowed us all with his own very unique blend of chromosomes!  (Don’t tell my A’ Level Biology teacher I’ve just admitted knowing nothing about chromosomes).

So ... How can Little H have a diagnosis of a rare chromosome disorder and still be undiagnosed?  Well it’s not that simple ...


Inside every cell of our bodies (except the red blood cells) we have a nucleus and inside this are chromosomes.  They're long and thread-like in structure and are made up of DNA and proteins.  Special stretches of DNA are genes and it is these genes that tell our bodies how to develop and how to function properly.


Apart from the egg cell in the female and the sperm in the male, each cell normally contains 23 pairs of chromosomes, that's 46 altogether.  They are named as numbered pairs from 1-22 and the 23rd pair are called the sex chromosomes, labelled X or Y.  Males usually have an X and a Y, whereas females usually have two X's.


Chromosomal abnormalities can occur when there are extra chromosomes (for example Down Syndrome) or missing chromosomes.  They can also occur when the chromosomes are rearranged and small parts of the chromosome are added or deleted - this is known as micro-duplications or micro-deletions.


Sometimes the chromosomes just get a bit mixed up - this is called a translocation and as long as there is no material missing or added (a micro-deletion or micro-duplication) then this shouldn't cause any problems at all.  Many normally functioning members of the public may unwittingly have these 'balanced translocations' with little or no effect.


H appears to have a balanced translocation.  In six different places, his chromosomes have broken and reattached somewhere else, though there is no evidence of any material missing.  On the face of it he shouldn't have any problems at all.  But clearly he does.  And since with every break point, the chance of losing a small amount of genetic information increases (even if we can't see it yet) the fact Little H has six mean that it is highly likely that at least one of these breaks is the cause of H's difficulties.  


To have chromosomes as dramatically rearranged as H's is quite unusual.  At present there is no-one else in the world with his exact rearrangement of chromosomes.  He is entirely unique!  In time, with greater chromosomal analysis we may be given a series of numbers and letters which indicate the specific point on the chromosome that is responsible for his special needs and then we may find someone else with a deletion in the same place, but for now, as far as we know, he is entirely one of a kind.

***********
This post is part of a blog hop to raise awareness of undiagnosed genetic conditions for Undiagnosed Children’s Day on 13th April.  Please read and share this and the post below to help spread the word.

Comments

  1. I have extra genetic material on my third choromosome. I found that out through genetic testing regarding my son so it basically means nothing. I call it my floating space debris. I find all of this science stuff quite amazing. Thanks for the lesson.

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    Replies
    1. Floating space debris? I like that. I found I've got an inversion through the same tests. I call it 'an upside down bit' which sounds much less exciting than floating space debris. I think I'll have to rename it! :)

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