Emma’s Story

Emma daughter of Melissa Short

Emma, Age 4

In the words of her mother, Melissa:

This story is about my now 4 year old daughter Emma.  When she was about a year we had been noticing things didn’t come so easy for her.  She wasn’t as far developmentally as she should have been.  So we started at home therapy twice a week. Developmental and physical.  It did help but she was always so withdrawn from them that it was difficult.  We eventually added occupational and speech as our main priority toward the end of the therapy that ended at three.  She has never really talked much.  She would wave and say few words like momma and dada and bye bye.  Then when she hit about one and half is when she wouldn’t say anything.  So when therapy was over at three we were able to get her into a doctor at Riley’s and she later diagnosed autism.  I was so happy to have a name for what was wrong with my baby.  I have two older children so I knew something wasn’t right!

Later we had lots of bloodwork done  and it came back that she has a PTEN gene mutation. We have seen many doctors and she now sees a genetic doctor regularly.  She looks like the boy Tommy’s twin that is on this website.  She has the slanted eyes and the same nose and the large large head.  She has had a MRI and a brainscan which both came back normal. Whew! She has the wart like growths on her hands and a few on her back.  She was always constipated as a baby and most growing up, but now Emma is in a special program at school four days a week for three hours and she seems to be enjoying it.  She absolutely loves Dora the explorer and will watch episodes over and over.  She loves books and numbers. Emma does talk a little now but mostly when I provoke it.  I love to hear her sweet voice.  She speaks more Spanish then English that she has learned from Dora.  The family has has to learn some Spanish so that we could understand what she is saying.  We do some sign language and that has helped with us with her needs.  She is still not potty trained.  Emma only likes people she is familiar with and she loves her routine.  She has some definite repetitive behaviors and has meltdowns often.  Emma has had tubes in her ears twice and has had her tonsils and adenoids out.  Her doctor said her tonsils were monstrous.  She puts everything in her mouth and will cram her mouth full of food if you let her.  We have to keep an eye on her at all times for her own safety!  She has low muscle tone.  It took Emma till almost two to walk and she would fall constantly till she was seen by a doctor that prescribed her SMO’s. She still to this day wears them and they have helped her tremendously.  She still has trouble jumping but can now run.  She now interacts with her brother and sister but mostly likes to be by herself.