Sunday, March 3, 2013

Trisomy Awareness Day 3

Trisomy Awareness Day 3, featuring Shannon! 

We don’t know of any families with Trisomy 3, so we decided to highlight a special family with Monosomy.. Monosomy is the presence of a single chromosome instead of the typical pairing. Partial Monosomy is the presence of 1 single chromosome and part of the second chromosome..

Here is Shannon’s story (shared by her Mom)

Shannon. Is 33 months and has partial monosomy 13q as well as severe scoliosis , iga deficiency , mild cp , seizures , bilateral kidney relfux and bowel issues , PDA , hypotonia and hypo flex , growth and development issues and is non verbal . 
She has an older sister and an autistic brother . 
From previous ultrasounds before birth we were told we we were having a healthy child ( within 12 hrs of birth she was in NICU with a fistula . 
As of right now we have weekly physio / ot / early intervention . And speech on occasional basis. We meet with our pead on a bimonthly basis and visit specialists at our children's hosp ( in Canada ) on an almost monthly basis .
Shannon functions around a 2 yr old receptivity and a 6-9 month old verbally. 
Her motor skills are delayed also. 

We try to make everyday as normal as we can and make daily life learning experiences for everyone . 
She try's to model her big brother who's 5 and help her 11 year old sister with her homework by doodling on paper .
We try to take her everywhere we can ( during this cold and flu season we have kept her home asides from doc/ therapy appts ) 
New equipment means new learning for everyone in the immediate family .
We have adjusted our lives to " Our new normal " 
One day at a time . Honestly though some days are harder than others , but a simple hug can make the day brighter .

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