September 19, 2014 1:39 am
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So I Have Results


Yes got the results to the chromosome testing….

Shocked is an understatement.

It’s hard enough finding out that your Angel Son has a chromosome abnormality, but finding out that two more of your children and yourself have it….

Well that is just a whole new feeling.

I am still in shock with many questions going through my head.

Feeling like a failure as my babies got this from me.

Knowing I shouldn’t feel like that – after all I didn’t know that I had this “abnormality”.

What does this mean for us?

I have no idea at the moment.

Where do we go from here?

I don’t know….you tell me.

Is this the cause of death for Samuel?

Most likely as there has been other children with this abnormality that have died suddenly without explanation.

Where does this lead Brandon & Zoe…

Well I guess we have more reason to consider them at risk of sudden death, especially if they are on certain medicines.

More so if they have seizures – yes that is Zoe.

It does help explain the problems that Samuel, Brandon and Zoe do have though (not all of these problems were present in the three children – but these problems are what is/was dealt with between the three of them):

  • autism/autism characteristics
  • adhd
  • developmental delays
  • hypertonia – high muscle tone
  • intellectual disability
  • challenging behaviour
  • speech/language delays
  • other medical problems
  • anxiety disorders
All three that have been diagnose with this chromosome duplication – 15q11.2q13 – are all affected in different degrees.
If you know my children you will see how different they are with their issues/problems.
I guess it is also “good” knowing that the kids do have a problem with a name and it just isn’t poor parenting or similar.

But on the other hand there are so many questions ¬†popping up in my head…

I need to write them all down to ask the genetics doctor next time.

Two more of my babies had bloods done today… and I still need to get two more done as well.

So proud of little Blair, he had his bloods done with no “magic” cream and sat in the chair and watched the blood lady.


Getting ready for first ever blood test


Yes, I do know that there are others worse off than us… and yes it isn’t the end of the world.

But you place yourself in my shoes now.

Knowing that my babies are at risk of the same thing happening to them that happened to Samuel.

Wouldn’t you be scared too?

Would you want to let the kids out of your sight?

Would you just continue of with life not giving a rats?

No, I don’t think you would.

These are my children, my children that I worry enough about now, but have had more concerns for them added to the rest of a Mum’s worries!

So as I sit here and try to digest all of these new facts, information and more, I google things and read information from the groups/organisations that are there for this abnormality.

So I guess there will be a few posts about this …

If you are interested in this abnormality you can go to the Dup15q Alliance site.


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Image courtesy of MultiBloggin Mum | Ramblings Of A Broken Hearted Mummy


  1. Wow. that’s big news!

    We had genetic testing done on Squeaker and nothing came of it. It was just a regular panel though. Was this found without extra testing, or was it part of a normal panel of chromosome testing?
    [name last post ..Dear Friend…

    • The original test that was done on the stored DNA of my son Samuel was a Molecular Karyotype.
      I do not know if this is a standard test or not sorry.
      I’m still trying to get my head around it all.

  2. I really have no words for you right now. What do I say?
    It’s good you have some information, but it’s not really the best information to have either.

    Firstly, this is hardly your fault. You had no idea at all, so don’t blame yourself. Secondly, you have every right it be completely terrified. You had a child die suddenly, and it’s not a stretch to imagine it happening again. That is possibly the worst news ever in my book!

    I hope you’re getting some help in dealing with this. Know that I am praying for you.
    And you survived; so that’s a good thing.

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