A diagnosis, so why so confused??

Yesterday our world was turned upside down again! We turned up for a routine appointment for Angel to find out we had results for our Soldier from a leading edge genetics study of developmental disorders that Soldier has been part of for 3 years. 

This study is called DDD (deciphering developmental disorders) and holds the hope for many families who have children with undiagnosed disorders (SWANS) that one day they will find the answer to that much asked question ‘why?’.

Our geneticist who is a lovely and an incredibly well respected geneticist Prof Ftzpatrick was hugely professional but we could tell he was excited about the uniqueness of what they have found in Soldier.

In essence they have found two genes that don’t function properly. They are not duplications or deletions as is normally found in genetics they just are not quite right. Both are incredibly rare and one of the genes they don’t wholly understood what purpose it actually serves in the body. One gene has 5 reported cases of children with disorders and the other 4 globally. And these reported cases are either duplication or deletion so not the same as Soldier.  Please believe me I am trying not to use any medial jargon! 

So tons to take in…..

 

So how do we feel? 

– oddly a bit confused, a bit numb, we have a cause for one of our SWANS but it doesn’t tell us an awful lot more.

What now?

– Angel needs tested to see if she has the same..

Is there a cure?

– no. At the moment there is no understanding of the impact never mind a cure…

Are there any adults that might give a clue to the future?

– no, unfortunately not, these genes were only discovered in 2009.. In time though maybe more cases will be identified and give future kids an indication of what the future may hold…

What will change?

Probably nothing, as we don’t know what it means therapy, support, education, oxygen etc will all stay the same…

Why has it happened?

Hubby and I have both passed a different faulty part of the same Gene to Soldier. As we have 2 copies we are fine but his doesn’t function properly….

What about other kids that we may have?

There is a 25% chance they could have the same… Who knows if Angel is the same yet….

Have I been on google?

Of course, who wouldn’t. There’s not much to read as so rare, no social media groups to join, no English speaking families to contact…

It’s a bit strange, I expected an emotional roller coaster but instead it’s all a bit numb.. All a bit nothing.. It’s early days right enough , the news is only 24 hours old, let’s see what the next wee while brings…. Xx

 

 

 

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s