Tuesday, August 14, 2012

Saffy Family


Leonie was born on 6th February 2002.  The pregnancy was terrible, with an original diagnosis of heart failure and fetal hydrops, we were advised to terminate to ‘be kinder on her’ as she only had 24 hours to live.  Thankfully we decided that if she was going to hang on, then so were we.  After two amniocentesis tests (both of which came back normal) we were told she was getting a little stronger.  She was delivered over full term at 42 weeks.  All hell broke lose on delivery.  She was in ICU for three weeks on oxygen and was diagnosed initially with Trisomy 18.  We finally left the hospital with a final diagnosis of AMC of unknown origin.  The first few years were a blur of hospitals, splint, casts, operations and Velcro….More Velcro than I had ever seen! 
Fast forward 5 years and we had been given the all clear to add to our family.  At my 20 week scan and could see those little twisted legs, hands and feet straight away.  Again the first offer was a termination, but we had already decided that we had done it once, how hard could it be second time around!  Aaliyah was born on 25th August 2006, unlike her red headed sister; she had a mop of black hair.  So from that day everything doubled…..double the appointments, casting, splinting, bracing, and surprisingly double the Velcro!

We finally got an official diagnosis of Escobar Syndrome in 2008.  Jason and I are carriers and they have advised us not to have any more children.

Both girls are similarly affected.  They have rocker bottom feet (CVT) neuromuscular scoliosis, restrictive lung disease, CHD, full body contractures, congenital deafness and reduced muscle tissue.  As a result they are more susceptible to infection and fatigue quickly.  There really are too many little extras to list.

Despite all the surgery, the physio, the hanging around for countless hours in waiting rooms and in recovery and the constant fighting for absolutely everything, I wouldn’t change them for the world. 

Something people don’t realize when they see our Escobar kids is that they are special.  Not just special in a regular sense, they are truly special.  They have such amazing strength, they go through things that the majority of people couldn’t dream of, and they never complain.  Something I have learned from my girls, and all the other members of our online Escobar family, is NEVER underestimate them or tell them they can’t do something.  They will only delight in proving you wrong with a smile on their face!

Zara Griffiths (Leonie & Aaliyah’s mum)
 z.griffiths740@btconnect.com

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