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We always knew our little boy was special. We just never realised what that really meant.
Mango was born in June, 2012. He appeared to be in good health, chubby around the face and just well... so perfect(to us ofcourse). With a distinctive birth mark on his foot and face just like his Daddy. We had reached heaven.
The first six days of Mango's life, we were surprised to be visited by doctors, geneticist, occupational therapist, 2 paediatricians, nurses (lost count of how many we nurses we met), lactation consultants and the list goes on. He had a pronounce broad nasal bridge, low set ears, rocker bottom feet, high cleft palate and inverted thumbs. I only realised that it was actually an issue when the doctors started coming around asking permission to take blood tests. Sure, why not? So off to the lab the blood tests went.
At nine weeks of his life, I received a phone call from the geneticist who invited us to his office the next morning. It was there that we were told the devastating news that our precious baby boy had been diagnosed with a rare chromosome disorder. I'm talking RARE as in no-one-in-this-world's-medical-history-has-ever-seen-or-met-someone-with-this-chromosome-disorder type of rare. He carried on to say that Mango may have severe global developmental delay, failure to thrive (which means growth problems), vision and hearing impairment, possibility of heart and kidney issues, neurological problems, muscle problems, may never walk or talk and have feet abnormalities (which he had). It felt so unreal. I was ready for them to scream out 'SURPRISE! It was a joke!' but that was no joke. It was so real.
NOTE: Most of the time when someone is being diagnosed with a chromosome disorder it usually involves one chromosome (most of the time anyways). However, in Mango's case. It's two chromosomes.
Every human has 23 pairs of chromosomes. Starting from 1 to 23. More or less of these chromosomes causes an imbalance making the body react and function in different ways. This defines who we are. We are all unique.
Updated: 21st January 2013
Our daughter Emily was born in June 1998 and was diagnosed on October 1999 with Ci du Chat syndrome. The current estimate is 1:35,000 birth has CDC. The outcome we got from the doctors at time of her diagnosis was ... depressing. In a nutshell we were told she would do nothing, not even recognized us and we were sent home. She could recognized us, I knew she could and I was told it was my imagination. Well she has proven them wrong many times in the years since being diagnosed and this past July we finally, for the first time met others with CDC. Don't let a diagnosis impact how you look at your child, you need to believe he will achieve his potential whatever that might be.
ReplyDeleteThank you for your support Pascale. It definitely has been a long journey for us and to think its only been one year! look forward to hearing more from you.
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