Emily was diagnosed with mosaic Down syndrome at 18 months old

Meet Emily

Emily was born September 16, 2003.  We were so excited to have a beautiful baby girl added to our family.  She was everything a mother could want.  Passive, content and she slept.  I couldn’t believe it when she began sleeping 6-8 hours a night at just two weeks old!! 

As Emily began to grow, I noticed she wasn’t meeting physical developmental milestones.  Something as simple as rolling over couldn’t be accomplished.  By the time Emily was a year old, she was unable to roll, sit, pull up or crawl.  I began to get concerned.  I informed our pediatrician that I would be calling early intervention and that I would need a prescription.  She agreed to this.

Emily began physical therapy.  Within a few months, Emily was rolling, pulling up and crawling.  We were elated.  She was making improvements much faster than we could have ever imagined. 

Around the time Emily was 18 months, our older child was diagnosed with Autism.  This diagnosis made me think more about Emily.  I had wondered when she was first born if she could have something wrong such as Down Syndrome, but quickly pushed these thoughts out of my mind.  Now, these haunting ideas came crawling back.  Talking with a family friend only heightened my fears.  She too, wondered if Emily had Down Syndrome.  It was time to find out.

I brought Emily to the neurologist.  I asked him if Emily could have Down Syndrome.  “Definitely not.” he replied.  I asked him to test her chromosomes anyway.  He agreed but said he was 99.9% sure that they would be normal.   We brought Emily to the lab to be tested and waited a month for the results.

Expecting the results to be normal, I ventured to the neurologist’s office without my husband.  I told him I would call him when I left the office.  The dr. walked in and proceeded to say, “Today, we are here to discuss what to do for Emily’s Down Syndrome.”   My heart sank.  “What?! Emily has Down Syndrome?” I screamed in disbelief.  The doctor quickly realized he hadn’t given me this news before, apologized and backtracked.  He explained that 6% of Emily’s cells had tested with trisomy 21 and that the other cells had come back normal.  He told me that although the percentage was low, he could not guarantee that she would be high functioning.  He explained that the low percentage was probably why Emily did not look like she had Down syndrome

Emily is doing wonderfully.  She is in an inclusive kindergarten class (special needs and general needs combined.)  She is reading short books and doing simple math.  We know she will make us proud and we look forward to watching her grow. 

Sue Friedenburg-Mom to Emily