Emanuel Syndrome at OneTrueMedia.com

In honor of all our angels with Emanuel Syndrome on Emanuel Syndrome Awareness Day 11-22

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So...my poor baby girl has lots going on this week: a genetics appointment with blood work on Wednesday, a renal ultrasound and test for kidney reflux on Thursday, a cardiac appointment and ECHO on Friday, and now we have to go to the pediatrician tomorrow to see if she has an upper respiratory infection...oh and did I mention she has another UTI (she just had one two weeks ago).  I feel so badly for my baby!  These appointments take so much out of her and the tests even when they're not invasive are so traumatic for her because she doesn't understand what is going on.  And honestly the are really rough on me too!  I can't stand feeling helpless and not being able to help her or explain why everything is happening.  She had me really scared today I thought she might be gearing up to have another seizure.  She was moving in very weird uncontrolled ways and seemed really out of it.  She also had a "hitch" in her breath (which is what now leads me to believe that she has an upper respiratory infection).  Hopefully I will have nothing but good news to report after all of these appointments, that is what we are praying for at least!

Our Story

My husband and I started trying to have a baby in 2007.  After many months with no success we were finally rewarded with a much anticipated pregnancy in June 2007.  At 5 1/2 weeks I started spotting and immediately went to the emergency room where they took blood tests and did an ultrasound.  Seeing the ultrasound was devastating..the doctor was only able to see an empty sac.  I was told that my body was aborting naturally and that we could try again the month after my next regular cycle.  The loss was tremendous and I believe only understood by other women who have gone through the same thing.  However, my husband and I were told that this happens often and were still optimistic that our future included children.  In August 2007, after just two months, we were told that we were pregnant again.  For weeks my husband and I waited in agony to see if my blood work would show a successful pregnancy.  When we got the results that my numbers were rising we were ecstatic.  At our normally scheduled ultrasound at 8 weeks we couldn't wait to see our baby's heart beat for the first time.  We waited with baited breath as the doctor showed us the embryo sac and the little being that was inside me...and then came the news...our baby didn't have a heartbeat.  The doctor gave me the option of letting my body pass the baby naturally or having a D&C.  I couldn't get over the fact my numbers were increasing and we saw our little baby on the screen.  I thought for sure they had made a mistake.  I told them I wanted to wait and see what happened still not believing that my baby was gone.  But my doctor was concerned that my body would not pass all of the tissue and scheduled a D&C for the end of the week.  I have never prayed so hard in my life.  I wanted a miracle.  I wanted God to give life to this little baby inside my womb.  I wanted to not be defective, as I saw it, because clearly this was all my fault.  On the day of the D&C I started spotting and cramping and I knew all my prayers had not been answered.  They put me under for the procedure, I think knowing that I couldn't possibly handle being awake while they removed my baby and when I woke up all I could think was that I hadn't given my body long enough and maybe if I had just waited she would have survived.  I cannot describe the level of pain I was in thinking not only that I did not have a hospitable womb, but that I willing chose to abort my own baby.  It didn't matter what the experts said about my child not being viable, I couldn't even wrap my head around that concept.  For months I carried around so much guilt at not being able to provide for my child in the most basic natural way.  After our second miscarriage I was terrified at the idea of pregnancy, but at the same time I found it hard to breathe the desire to hold my child in my arms was so strong.  After 3 months of waiting, my husband and I started trying to have a child again in January 2008.  For one year I waited.  Each month we weren't successful I felt the loss and devastation and failure as a woman all over again.  In January of 2009 I went in for my annual appointment with my obgyn and she recommended we start doing some tests to see if there were reasons for my infertility.  We scheduled a special ultrasound for February 15th.  The first week in February my husband and I found out we were pregnant again.  I was petrified.  I scheduled an appointment immediately to get my blood taken and to have an ultrasound.  The doctor thought I was crazy and tried to refuse saying they don't do those this early in the pregnancy.  I was in tears, pleading with him to please take a look at my baby.  Finally he agreed and my blood work showed up in normal ranges and my ultrasound showed a healthy embryonic sac.  Still I was petrified.  I knew until I saw the heartbeat I wouldn't be okay.  I had 4 ultrasounds the first trimester.  I know my doctor must have thought I was crazy.  But all showed a healthy developing child inside my womb.  Although I loved my child from the moment I learned of her presence I didn't allow myself to let go of the fear the entire pregnancy.  I just knew if I wasn't careful something would go wrong.  At 20 weeks we went in for our ultrasound and found out we were having a girl and got our first big scare.  The technician did not see the brainstem and was concerned enough to refer us to a specialist who would take a more detailed ultrasound.  The doctor suggested we get blood tests done on myself to see if I was at risk for carrying a child with a genetic disorder.  My husband and I had already made up our minds that we didn't want this test because we knew we wouldn't abort, but our doctor insisted.  We got the blood work back and all was normal.  The ultrasound showed normal development.  I was elated!  I started working on her nursery and getting the house ready.  I started making plans for her future...what I would say to her on her wedding day, what educational opportunities I wanted to provide for her.  I just knew she was going to have my husband's peaceful disposition and my love of words...I love to read and write and yes talk...and I knew she was going to have the sweetest voice.  I carried my precious child full-term and she insisted on having an extra two days in the womb she just loved it so much.  At 7:35am on October 8th, 2009 our miracle baby was born.  She was beautiful!  My husband left with her to give her her first bath while they were transferring me into our room.  I will never forget when he came to my side without my daughter and said she has to be admitted into the NICU because her heart beat is erratic and her breathing is not regulated.  He asked me if I wanted to go see her and I just couldn't.  I used the excuse that I was in pain (which I was) from childbirth, but really I was so afraid that this child was going to be taken from me too.  After a few hours I was able to pull myself together enough to go and see her and speak to the doctor's.  They explained that although her issues needed to be corrected before she could go home that there was no reason to think that anything serious was wrong.  They noticed some irregularities with her appearance (ear pits, ear tag, and extra skin at the back of her neck) and referred us to a geneticist, but again told us that they were just being overly cautious, if her newborn screening came back ok then we probably didn't have anything to worry about.  We waited for a month and finally got the normal results of her screening and felt we were home free.  For 6 1/2 months her pediatrician said she was developing normally and was only concerned with her social development because she was not afraid of strangers.  We finally got in to see the geneticist and were told that we had a less than 1% chance of her having a chromosomal issue.  7 days prior to her 7 month birthday we received the news that our beautiful baby girl had a rare genetic disorder called Emanuel Syndrome.  We learned that I am a carrier and that the likelihood of us carrying another child to term would be slim...the likelihood of us carrying a "normal" child to term even slimmer.  There are truly no words to describe what we were going through at that time.  We read research that showed that 70% of children with this disorder walk with the use of aids and that only 5% learn to talk.  We learned that she will need round the clock care for the rest of her life, that she will be developmentally delayed, have severe to profound mental retardation, and have medical issues the likes that we had never even imagined.  My beautiful baby girl would most likely never say "momma" or sing Christmas carols with me, she would never have any children, she would never marry, or move out on her own.  The only thing I could imagine being worst than this was if she passed away and the knowledge that she was alive was what kept me going.  No matter what her IQ I had promised to love and support and provide for my daughter always and I make sure every day that I live up to that promise.  I have to say that my daughter is the happiest, most easily pleased little girl I have ever met.  She makes my life complete and brings me joy every day.  When she mastered rolling over at 8 months we celebrated as if she had just gotten a gold medal in the Olympics.  She has without a doubt made me a better person, mother, and wife.  I look forward to each day if only to see her face and her smile.  She may not laugh like other kids her age, but her laugh is the sweetest I have ever heard.  My name is Susan Silva and this is my husband's, my daughter's, Isabella Jean Silva, and my story.