CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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Gracie

Emanuel Syndrome

Mom, Maria

Gracie was born on June 2, 2007, exactly on her due date.  When we first looked at her all we could say to each other was “where did she get that nose?”.  Now her mother being from an Italian family we just assumed it was from my side.  Everything was fine with her.  The Dr. did his examination and noticed that she had hip dysphasia  and after x-rays found that she had shallow sockets.  She had to wear a pavlik harness for 3 months and that was taken care of.  She was born with tiny skin tags and pits on both sides of her ears but again nothing to be to concerned about.  The Dr. thought nothing of it.  Well, after Gracie was 6 months old and still not sitting up on her own, my husband and I asked the Dr. who took care of her hips if she could be behind on sitting because of the harness.  He told us he didn’t think so and that Gracie has always look peculiar to him and did we ever think of genetic testing?  We said no but sure go ahead and do it.  Well, two weeks later while I was at work I called the genetic Dr. and he told me the tests came back that Gracie had a syndrome called Emanuel Syndrome.  As he told me I started to look it up on the internet as he was speaking.  I asked what does this mean and he said he wasn’t sure but to read the gene review on the OMIM website…as he spoke I was reading…will be severely mentally and physically retarded….I burst into tears at my desk in my office and just thought no this has to be wrong.  Needless to say I left work early and called my husband and bawled all the way home.  I could not pick Gracie up at daycare yet because I was to upset.  Finally, I went and got Gracie and held her so tight.  She looked at me with concern in her face that sweet little 6 month old seemed like she knew I was sad.  All the hopes and dreams I had for my child were gone.  I glanced at the piggy bank college fund on her dresser and then the cloths in boxes that were going to be saved for her child someday. I have 2 previous children Kassandra who is 20yrs and