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What is DiGeorge Syndrome? A Quick Introduction.

24th January 2016

It’s been a difficult 12 days.  It was 10 days ago that we received the news that Rainbow has DiGeorge Syndrome.  We were completely stunned.  We had never heard of DiGeorge Syndrome before…  Since the diagnosis, I’ve spent time learning about DiGeorge Syndrome and what it could mean for Rainbow.

DiGeorge Syndrome, Velo-Cardial Facial Syndrome, Shprintzen’s Syndrome and CATCH-22 are all known variants of 22q DS (22q Deletion Syndrome).

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22q DS is believed to be the second most common chromosome abnormality after Downs Syndrome.

22q DS is also believed to be under diagnosed with estimates of people with the deletion being between 1:2000 to 1:1800.

There are almost 200 anomalies caused by 22q DS… with individuals experiencing around 30 symptoms during their life, on average.

22q DS is a spectrum disorder; one person could have many severe symptoms while another has only a few minor symptoms.  There is no correlation between the severity of one symptom and the severity of another.

The most common symptoms of 22q DS are heart defects, speech & language delays, poor immune system, feeding problems, palate problems and facial features. 

22q DS is no-one’s fault… In around 90% of people with 22q DS it is a random ‘copying error’.  I’ve likened it to a photocopier missing out the odd letter on a page of text. 

Perhaps the most frightening part of a 22q DS diagnosis is that no-one can give you answers.  There is no way of telling if a baby will have developmental delays, autistic tendencies or speech and language problems other than to let them grow.

Rainbow’s biggest problem (aside from the low muscle tone and feeding issues) is her immune system.  I will go into the immune deficiency once her complete immunology report is back but it looks like Rainbow has around 20% of immune system they would expect to see in a baby of her age.

You can find more about 22q11 DS from Max Appeal, The 22 Crew and Unique!

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6 Comments

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  • Reply
    Kinsley Riggs
    1st February 2016 at 7:56 pm

    Congratulations on your beautiful little Rainbow! My Lydia has 22q11 and I understand how waiting is the hard part. Lydia has presented heart, breathing and feeding problems and she is 8 months old this month. It’s almost like I’m just waiting for the other shoe to drop. Enjoy your sweet girl. She will amaze you everyday. If you would like to connect please don’t hesitate to contact me.

  • Reply
    Louise (Little Hearts, Big Love)
    30th January 2016 at 9:34 pm

    I had heard of 22qDS and DiGeorge Syndrome but I have to admit I knew very little about it other than so found it interesting to learn a little more about it. It must be hard with something like this when you just don’t know what the full effect will be for Rainbow and immune deficiency is a very scary thing too. Thinking of you all and hoping that Rainbow is continuing to do well x

    • Reply
      Beth
      30th January 2016 at 11:19 pm

      I think that’s the part that is getting to me the most, Louise. The not knowing. She could have severe learning difficulties or just be bad at maths… It truly is a spectrum disorder.

      Rainbow is doing well… We have a pre-discharge meeting on 12th February so I’m looking forward to getting that over and done with. She can hopefully come home then. 😀

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