Thursday, February 28, 2013

Rare Disease Day 2013

I know it's been awhile since I've updated - and I promise, I will do so soon....

However, today is Rare Disease Day ... and as a parent who is trying to bring awareness to rare disorders, especially those of my children ...  then I - of course - must post today!!

So .... here are the short stories of our Noah and Nathan...

Noah ...  after five years of secondary infertility, four more miscarriages (my oldest was a twin and I miscarried his twin, so it was five all together) ....  and at the breaking point of all lost hope on having another child, I found out I was pregnant at one of the worst times in my life.  I was fully of stress, worry and the unknown ...  but I grasped onto that baby like a lifeline.  We saw his heart beating and I just knew - knew - he would make it and I wouldn't loose him in miscarriage.  A few months went by and I had my 12 week ultrasound...  only, he was smaller than he should have been.  Further ultrasounds, still the same, too small.  Finally I agreed to an amnio and at 19 weeks I found out that we were having A BOY!!!  And that our lives would change forever.   We found out he has MOSAIC TRISOMY 16.  A very rare genetic disorder that very little is known about.  We were told he would die - period.  When I wouldn't accept that answer, we were told that if by some miracle he did come home, he would be so mentally and physically delayed "it wouldn't be worth it" ....  but I wasn't going to give up.  I kept saying, I'll take whatever time God grants me with him.  He was born at 33 weeks - 1lb 12oz and 13 3/4 inches....  and although we have had a lot of hurdles, and challenges ...  he is a very smart, compassionate, stubborn 11 year old now.  Because he is a miracle, and he is rare.

Nathan ....  was a surprise.  We weren't trying to get pregnant, and so when I found out .... I was in complete and utter shock ...  His pregnancy started to mirror Noah's with the growth issues.  I knew something was wrong but kept being told it was fine.  We found out at my 20 week ultrasound he had a "cyst" in his brain called a Dandy Walker Variant .... and although we later found out it's not a "cyst" but an absence of what's suppose to be there.... it's still considered a DWV.   He was born about a month early .... 3lbs 4oz and 15 3/4 inches.  Through the years - it seems like the diagnosises never stop.  He has such a dramatic list, Hypothyroidism, Cleft Palate, another brain malformation other than the DWV, Autism....  but the one we really wanted was the one that would explain his failure to thrive and lack of growth.  In April 2010 he was diagnosed with clinical Russell Silver Syndrome.  It's a type of primordial dwarfism and it's not common.  Although there are a lot more families who deal with it then the Mosiac Trisomy 16 that Noah has - but it's still scary.  Especially when Nathan is almost 6 years old and only 27lbs.   He is a rare miracle too.

I hold mine every day!

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