Rachel was diagnosed at 6 months old with mosaic Down syndrome.

Meet Rachel

I had a high triple screen when I was pregnant but had a level 2 ultra sound instead of a amnio due to risk of losing the baby - it was 2% chance of losing the baby as opposed to a 1% chance of having a child with down syndrome and it did not matter we were keeping the baby.  The Level 2 did not find anything wrong.  When my daughter was born in 1999, I asked if she had Down syndrome, as I had the high triple screen.  They "the doctors" told me “No, she is a beautiful baby girl.”   They were right about that part, she is gorgeous (if I do say so myself ;-)  At 4 months I saw another pediatrician in the practice who was not my regular one.  She asked me if my husband was Asian.  I said no - French/American Indian.  She said Rachel had low tone in her trunk and "Asian" eyes which could be a sign of Down syndrome - we would wait and see if any delays developed.  Well, I am a type A personality and I am not about to "wait and see" anything.  I immediately went to my regular pediatrician and asked her to confirm or deny it.  She looked at Rachel and said - "I can't tell, we have to do the blood work."  We did the blood work, which took almost 2 months to receive the results.

During the two months it took for the blood work, our pediatrician was diagnosed with breast cancer.  We were called with the “news” and told over the phone by someone who I had never talked to before; he was very abrupt and did not give us much information.  He said Rachel had mosaic Down syndrome.  I was left on my own to figure out what that meant.

Shortly after getting the diagnosis Rachel got very sick.  We went to the doctor’s office and they said it was a cold, but she seemed to be getting worse.  We went back to the doctor’s that afternoon because she was not getting better.  The doctor walked in the room and immediately walked out without saying anything.  Came back in with an oxygen mask and told us that Rachel wasn't breathing she called 911 and we would be going to the hospital with her.  We took a ride in an ambulance to a local hospital which stabilized her and then another one through rush hour traffic to Children's Hospital in Philadelphia (CHOP). 

Rachel ended up spending 2 weeks at CHOP.  As I lay with her in the room, I was thinking "If this child dies, my husband and I would have another girl, and she would be perfect."  But I began to think, what if we couldn't have another child?  What if we did and there was something else "wrong"?  What if she did not have a limb?  Would she be as loving as Rachel?  Would she be as good a baby - Rachel was the PERFECT baby!   That week on the PICU (Pediatric Intensive Care Unit) - over half the children died - there were 44 children on the PICU.  The wailing I heard was heart wrenching!  I came to terms with the MDS (my child was alive!)

Rachel is a typical 10 yr old girl who has crushes and loves the idea of being in love - right now she is in love with Joe Jonas.  Rachel either loves something or she hates it.  She only has strong feelings she doesn't just like something or not like something.  Rachel teaches me more and more every day.   She is a blessing and she confounds her doctors more than she knows (her file is more than 4 inches thick).  I love her so much and she is the light of my life - I could not imagine life without her - it would be easier but not any better.

Darlene Benoit-Mom to Rachel