MOSAIC MOMENTS

Back in 1999, as a parent of a child with mosaic Down syndrome, I was searching the Internet for someone to connect with. Tim was 13 yrs old, and I had never met another person with mosaic Down syndrome, so I didn’t really have a lot of hope that I would! But, much to my surprise, a new website had just been formed for mosaic Down syndrome called Mosaic Down Syndrome on the Web.  From the birth of this site, became our online support group and by 2001 we were forming IMDSA!

Because of all of this, I have had the opportunity to meet many families and find those connections that I was looking for all those years ago.

The Benoit family is one to those lasting friendships that I will always treasure! John and Darlene are great folks and their children Jacob and Rachel are just delightful! I think Darlene’s story is very interesting and inspiring and Rachel is such a beautiful little girl!

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.  And 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 know she is a beautiful baby girl - well 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 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. 

At 6 months she received the diagnosis of MDS.  IMDSA did not exist at that time (Back in 1999).   Shortly after getting the diagnosis she got very sick.  We went to the doctors office and they said it was a cold and suck out the mucus with this ball thing.  We did that, but she seemed to be getting worse - very listless and would half-heartedly nurse and let the milk run out of her mouth.  We went back to the doctors that afternoon and while we were there she stopped breathing in the doctors office.  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 said that she called 911 and we would be going to the hospital with her.  We took a ride in an ambulance to a local hospital who stabilized her and then another one through rush hour traffic to Children’s Hospital in Philadelphia (CHOP).  You would NOT believe the people who would not pull over for an ambulance in rush hour - and I thought all kinds of bad thoughts about them as I worried about my child making this trip.

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!) which was very beneficial to me especially since not 2 years later my “perfect” son would be diagnosed on the Autism Spectrum. 

When Rachel was young, she would vomit in the middle of the night about once a month - and it was weird, I would wake her up and she was covered and it was all over her crib.  She would get sick and go back to sleep in it - I thought it was odd and we mentioned it to the doctor - and she told us - it was just reflux.  But then one morning and I went in and there was undigested green beans on her bed - (Being a type A, I have a calendar to write down what we eat for dinner) - I looked on the calendar and saw that we had not had green beans in over 3 weeks!  We brought this information to the doctor and she sent us to a GI specialist who did a Barium Swallow test (my doctor did not want to make her do as it would make her uncomfortable).  She did the test and we saw that she had a partial blockage at the top of her small intestine - the food would go into her stomach and get caught in the webbing on top of her small intestine - liquids passed but not solids.  It was called a duodenal webbing.  She had the surgery to put in a bypass shortly thereafter (at 3)!  So from the time she was eating solid foods until she was 3 all the food sat at the top of her small intestine until she vomited it up.  Think of how uncomfortable she was!

Whenever she has a cold and she starts coughing or has a runny nose, I take her to the doctor and the doctor does an X-Ray because she can’t tell how sick Rachel is by her behavior - Rachel can have pneumonia and still be active, not listless.  So you have no idea how many times I have had her go to school and she comes home and goes to the doctor and it turns out she has pneumonia.  We have a nebulizer to help break up the mucus when she starts to come down with a cold and it helps. 

Rachel and Tim dancing at 2004 IMDSA conference

When she was 8 we got a new puppy and she loves the puppy and he loves her.  Unfortunately, he thought she was his personal chew toy and put many holes in her clothes.  One spring day she got poison ivy.  I put calamine lotion on it and sent her to school.  School called me at 9:00 am saying I need to come and pick up Rachel,  her arm is all inflamed.  I said - I know she has poison ivy and I calamine on it - they said I see where you put the calamine but this is up to her shoulder.  So I went to school and sure enough her arm was bright red from shoulder to elbow and really HOT.  I brought her to my doctor and she gave me antibiotics and sent me home.  I gave Rachel the antibiotics but she could not keep them down.  So I called the doctor again and the doctor told me to take Rachel to the emergency room.  When I took her to the emergency room, that hospital did not have equipment that was small enough for her so they determined that she needed IV antibiotics and she needed to be monitored overnight and they do not accept children.  So we took another ambulance ride to CHOP and she was there for 4 days.  Turns out the puppy scratched her in her poison ivy and the poison ivy got into her blood stream and caused sepsis. 

Later that year, she told me her heart hurt.  When she complains about something I am going to have it checked out.  Rachel had just started talking and she had never complained.  So I took her to a Cardiologist.  They did an EKG and an echo cardiogram.  The EKG showed nothing.  The echo showed 3 holes in her heart!   The largest one was already closed (it closed on its own) - the second was what they call a silent PDA - apparently everyone has a PDA and they close after we are born.  Rachel’s never closed but because it was silent no one ever knew about it and the only way to see it is an echo.  So at 8 (in 2nd grade) Rachel had surgery on her heart to fix the silent PDA - the other hole is a small pin hole and they said it is too small to worry about.  The cardiologist said that Rachel probably had heart burn as the PDA should not have caused her any pain.  But it caused us to look at her heart - which was a good thing - thank God for heartburn.

Rachel is in a regular 3rd grade classroom with learning support for Language Arts and Math  - She loves reading and reads at a 1st grade level and hates math and her math is at a 1st grade level too.  Rachel did not talk until 2nd grade so her teachers did not have any means to test her on the information she knew - so she missed 2 years of school - I hope to have her caught up to grade level by 5th grade - but it all depends on Rachel and if she is willing to do the extra work that I am giving her.  

Rachel is a typical 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 - how NOT to be a type A - how life does not live on MY schedule - how patience is a VIRTUE (One that I NEVER had).  She is a blessing and she confounds her doctors more than she knows (her file is more than 4 inches thick).  She is a trooper and has multiple surgeries without a complaint - but complains LOUDLY for a sliver.  I love her so much and she is the light of my life - I could not imagine life without her - it could be easier but not any better.

 
Darlene - mom to Jacob (11) - future Packers quarterback and Rachel (9) - the rock star princess

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