Yesterday we received a phone call from Boo's consultant that turned our world upside down. We have been waiting a long time to ha...

Yesterday we received a phone call from Boo's consultant that turned our world upside down.

We have been waiting a long time to have an official diagnosis for Boo, but I really wasn't expecting the one that we got.

Boo has chromosome 1 duplication, which is a very rare genetic mutation, and is the cause of all of his problems.

I don't really know the ins and outs of it all, as it is very complicated, but I do know that we now have to follow a very long road of blood tests, and waiting.

The first step is for myself and Daddy D to have our blood tested, as well as Boo having more blood taken too.  
This will be tested to establish whether or not Boo inherited the defect from one of us, or if he is the first in line to have it.
If  he inherited it, then there is around a 50% chance that one, or more, of the other children will have the mutation, and they will all have to be tested.
If he is the first in line, then the only people who will be affected are himself and any children that he may have.

Some how, that just doesn't sound right ...... "the only people". 

I think the thing I am finding hardest to deal with is that Boo will never have a normal life.  
If he has children, they may have to suffer the same difficulties as he does.

If he has children.

We now have to wait to have our blood taken ..... and then wait for the results ....... and then wait to see a geneticist.  

Wait .......... wait .......... wait.

The geneticist will be the person we rely on to tell us what the outlook is for Boo.  
What kind of improvement (if any) we can expect for him educationally.  
Whether things will be expected to get worse.  
What kind of difficulties he can expect to come up against as he grows up.

At the moment, we are in limbo.  
We wont know much until we meet the geneticist, and that is probably a couple of months away.

For the time being, we just have to carry on as we are.

Boo's new school will be informed, but it wont change the way we manage Boo, until the geneticist has seen him and made decisions about his care.

I have so many thoughts and question whizzing around in my head and I just don't know what to do with it all.

I must admit, I cried after I was told the news.

I know I shouldn't let myself get too upset until we know all of the details, but it's easier said than done.

It's all just such a shock.

Missy xx

1 comment:

  1. really sorry to hear your news, I can imagine you must be in a state of shock right now. I'd really recommend that if you haven't already you get in touch with UNIQUE, the rare chromosome support group, you are not alone and they will be able to support you through this. take care, lauren


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