On Tuesday 1st November we had Boo's first appointment with the geneticist. I had been very nervous about the appointment, as Daddy D a...

On Tuesday 1st November we had Boo's first appointment with the geneticist.
I had been very nervous about the appointment, as Daddy D and I would be receiving the results of our genetic blood testing, and finding out whether any of our other children were at risk of inheriting the condition.

The geneticist we saw was very friendly and informative, and made sure that she included Boo in everything, which was really nice as I hate talking about him like he's not in the room.
We discussed all of his symptoms and previous opinions from other doctors and she made sure that we were not rushed, and had plenty of time to ask any questions and for her to explain, in detail, the abnormality that Boo has in his chromosome.
With our permission she also did a physical examination of Boo, and took some photographs of his hands, feet and face to keep with his medical records.
She has confirmed that the abnormality in Boo's chromosome is what is causing all of his problems educationally and behaviourally.  This is something we had expected to hear, but having it in writing will now make it easier to get Boo the help he needs at school, and throughout his life.  The geneticist has assured us that we shouldn't have any more problems obtaining a statement of educational needs for Boo, as his learning ability will never increase.  He will learn and make progress, but it will always be at the same slow pace that it is at now.
Boo will always require some one to one support so that he can achieve his learning goals.

Next came the part that we had been dreading.  The blood test results.

Boo had not inherited his genetic condition from us.

I didn't know whether to laugh or cry, in fact I wanted to do both.
I managed to compose myself and then immediately felt the most overwhelming wave of guilt.
How dare I feel so much happiness when my son would always have to suffer?
I felt awful, but the geneticist did her best to reassure me and told me it was a normal reaction to have.  She told me that there is nothing wrong with being happy that none of your other children will have to suffer the same difficulties as Boo.  This should have made me feel better, but to be honest I still feel guilty now.
Boo will never know anything other than the way he is now.  He will always struggle and find it harder to progress through life.

The geneticist then went on to tell us that the abnormality seen in Boo's chromosome is bigger than most of the others they have seen so far.  He is a bit of an odd case as most of the other children affected, even ones with a smaller abnormality than Boo, have physical abnormalities such as eyes that are very wide set apart, and an overly large head.
This is probably one of the reasons why it has taken so long to obtain a diagnosis for Boo.
I fear that this will sound wrong and I hope that people don't take it the wrong way, but I feel blessed that Boo doesn't have to suffer the physical side of this condition.
He already has enough to contend with.

Boo will not need to see the geneticist again until he is a teenager and ready to ask questions of his own.  They will need to see him to explain the ins and outs of his condition, and to make sure that he is aware of the risks involved if he is to have unprotected sex.
Unfortunately there is a 50/50 chance of Boo passing his condition to any children he may have.  There will be no way of knowing whether or not his children will receive the abnormality until they are conceived, and even then the only way to find out would be for his partner to have an amniocentesis.
Boo has so much to learn and understand about his condition as he grows in to an adult, which will be no easy task for someone who has a learning disability, and finds it difficult to take in new information.

I'm sure we will come across many prejudices along the way, but I will make sure Boo knows how much he is loved and cared for and try to teach him to ignore the ignorance that some people have against mental disabilities.
I hope people come to realise that you don't have to be physically impaired to be disabled, and that Boo is not subjected to the kind of ignorance that I have seen friends suffer at the hands of strangers.

We will always be there to help and support Boo to the best of our ability, and now our job is to make sure he receives the help and support he needs throughout his schooling and everyday life.
Boo will require speech and language therapy, occupational therapy and one to one support in his education, and I will fight with all of my strength to make sure he gets what he needs.

I will always treat Boo the same as my other children, and why shouldn't I?
He is a happy, friendly, gorgeous little boy, who always tries his hardest with any task he is given, no matter how difficult he finds it.
Yes, he is different to other children his age, but I wouldn't have him any other way!