Tuesday, December 27, 2011

Prologue - Things I wish I'd known 6 years ago about Down Syndrome

Six years ago today I wrote the email below to my family & friends and started my journey into the world of a special needs child.  In some ways when I read this email now I'm pretty proud of myself, I didn't betray the sadness of lost dreams I was feeling and managed to convey that "everything was going to be OK" which I was also feeling.  It was impossible not to know that when you cuddled that little angel and looked into her intelligent eyes.  But it was a time of such conflicted feelings for me - one minute I was so in love and happy, then the next I was crying because my baby would never have a wedding or some other such thing. 

Sent: Tuesday, December 27, 2005 1:42 PM

Hi everyone –
Sorry this took a long time to get this email out – I know  I promised it earlier but we’ve had a roller coaster of a weekend.
First things first –
 Miss ...Cate – was born at 7:50 am on Thursday 12/22 by c-section.
In case you didn’t know we had to have a c-section since the little rascal never turned head down.  This turned out to be a good thing because she had her cord wrapped loosely around her neck so it turned out to be the safest way for her to come into the world.  Ric was there and actually watched the “birth” part.  He was able to hold her within 5 minutes of her being born.  She was 7 lbs, 6 oz at birth, with brownish hair and dark blue eyes.   I figure she is going to have Ric’s hair and my eyes, although all the nurses think she looks just like Ric!!!  And she is adorable if I do say so myself!!!  I’ve attached a couple of pictures.

Now  for the roller coaster part.  On Friday Cate had to have a blood test because the nurses in the OR had a suspicion that she might have Downs Syndrome.  Drawing the blood turned out to be very difficult and the trauma caused a low  oxygen problem and she had to be taken to the NICU (Neo-natal Intensive Care Unit).  This sounds like a terrible thing but it turned out to be for the best.  While she was in the NICU they did a bunch of tests including an Eco-cardiogram and found out she had a heart defect.  We are very thankful for the turn of events because of the early detection and that she was in a place with the best possible care.  This heart defect is found in 50% of Downs babies.  The heart defect is repairable and she will have surgery to for it around 4 – 6 months of age.  The doctor says is a text book case and the prognosis is very good.  In the mean time it will not affect her every day life except she has to wear a heart monitor for precautionary reasons when she sleeping – this allows the information to be gathered for the doctors and gives us a little piece of mind.  In case you want to look it up the type of Downs she has is Trisomy 21.

Please do not be sad about the Downs.  Ric and I have come to terms with it and there good reason to hope that it is a mild case.  Cate is beautiful, alert, aware, and even strong.  We will have some hurtles in the future but we can overcome them.  So be happy for us and keep Cate in your prayers.

You are welcome to give us a call if you want to come by and see her.  I know  that many of you are worried about calling and waking us up – which I appreciate – so if you want to come call my cell phone (which I turn off or put in another room during my nap time – she can sleep through anything after being in the NICU), leave a message.

Lisa & Ric

Starting this week, I'm going to post about the 5 thing I was most afraid of and wish I'd known I didn't need to be.  This email is a good prologue to that because it shows how much I didn't know but how much hope I still had for my little girl.  As far as this email goes, the advocate in me cringes a little at my use of the phrase "the Downs", but just like the general population, I had no reason to know then why saying it that way was treating a genetic disorder like a disease - which it is not, Cate is not sick because she has DS.  Also I cringe at the medical inaccuracies - which are my interpretations of what doctors said, like that her "type of Downs" was Trisomy 21.  Trisomy 21 is the medical term for Down Syndrome, meaning a third copy of the 21st chromosome its not a type.  There are a couple variations of Trisomy 21 but they are both very rare and did not apply to Cate.  One is called Mosaic DS and that basically means that not every cell in the body has 3 copies of the gene, only some do.  The other is Translocation DS which means that the extra copy of the 21st gene is actually attached to another chromosome.   The other inaccuracy is that there is no spectrum for DS - you can not have a "mild" case of having 47 chromosomes.  Of course different children have more "mild" medical issues and different severity in development delays areas but there is no way to tell that at birth outside of the obvious serious medical conditions, one of which she actually had. 

Now for some cuteness after that serious talk -
First of a million cuddles with mommy!

Cate's first Christmas in the NICU - the blanket was a gift from a local ladies group and I still use it to decorate and remember the kindness of strangers each Christmas.  The scratches on her chin were self inflicted - she had long sharp nails and gouged her face many times before we got them cut.  I don't remember why she had the arm splint except she did have an IV at first, the circle of tape by her eye was for a monitor of some kind.  We were very lucky to only be in the NICU a short time and went home on 12/28.  During that time time we got to hold her and the great nurses even let my parents & brother/sister-in-law in to see her on Christmas.

Now we get to have FUN at Christmas time.

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