Bella walking in her kid walk and laying in her crawl trainer

The above video was taken a month and a half ago.  She is taking individual steps much more now, but she walks on her tip toes with her knees bent because she can't stand for more than 30-60 seconds. We just found out from her new physical therapist that she walks on her tip toes not because of the kid walk, but because she has high tone in her lower extremities.  So now we are working on stretching out her muscles.  Hopefully it works!

Bella at 4 months

These videos are for a friend who was curious about Bella's ability to hold her head up at 4 months.  The above video was taken on her 4 month birthday, the one below was taken 11 days later.  She hadn't had any hospital visits (other than 1st week in NICU) or surgeries/procedures at this point so there was nothing preventing her from being on her stomach.  She wasn't a fan of being on her stomach, but mean Mommy kept making her :).  I can't remember when exactly she learned to lift her head, but for some reason she has always been better at it when she is laying on her stomach.  Whereas now when she is walking in her kid walk she constantly holds her head to the side or lets it drop.  I'm not sure why that is.  I hope these help!

 

I am having a bad day today....

I am having a bad day today….

And if I allow myself to be honest I would say that I have one of these on average once a week.

Days where my heart hurts so much that I have to will myself to breathe.

I have not written on this in a few months because I knew when I did it would be to say this and I didn’t want to admit to feeling this way.  The last couple of months have been filled with my daughter’s doctor’s appointments, open heart surgery, kidney deflux procedure, tests, PT/OT/ST, illness, and a UTI. 

I am one of those people who try to appear positive about my situation because I don’t want to bring anyone else down, especially not someone who is going through the same thing as I am.  I want to be uplifting and encouraging; I want to praise my life and my gift from God.  I want to do these things, not so that people will think my life is perfect, but so that I won’t have to hear the judgment from other people.  So I won’t have to hear comments like “God doesn’t give us more than we can handle” because the reality is that that is not true….it has nothing to do with how much we can handle, we handle these things because the alternative is to die and our survival instinct is just too strong.  I am not saying that God does not do amazing things, because I believe he does, but placing Emanuel Syndrome in my life is not one of those things.  God will never be able to cure my daughter.  Emanuel Syndrome is not like cancer where you can have miraculous recoveries; you don’t go to bed one night with an extra chromosome and wake up the next morning without it.  And if I allow myself to be completely honest, I am beyond angry at God.  For those of you who are in doubt Emanuel Syndrome sucks.  There is not a silver lining in the clouds.  EVERYTHING about it sucks.  Please do not get me wrong, I love my daughter and there will not be a day that goes by that I don’t love my daughter and am thankful she is in my life.  But I will never be thankful for Emanuel Syndrome.  I will never feel like this is the life I am supposed to lead.  And I will never get over the hurt.  There is no healing for my heart because it will always ache for my child.

I don’t say these things to people and even now I am wondering what the fallout will be.  My family and even my husband think I should be positive.  In fact, I believe that my family thinks I have it easy because my husband works so hard for us, such long hours, and I get to stay home with our daughter.  So for those of you that don’t live my life, let me give you a glimpse.  Each day (even the good ones) end in physical and emotional exhaustion.  The physical is pretty self explanatory with all the therapy I do with my child, but the emotional is harder to see or understand.  Because I am my daughter’s primary caregiver, if something happens to her or if she fails to learn a new skill I feel like a failure as a mother.  If I don’t keep my house up to meet my husband’s desired cleanliness I feel like a failure as a wife.  As soon as my daughter’s temperature rises above 99 degrees I worry that she is going to have a seizure.  Because my husband has a job that requires him to travel I am alone with her most nights.  I have insomnia and the only way I am able to get any amount of sleep is if I take medication.  However, I can’t take the dosage I need because then I might not wake up if she needs me.  On the rare occasions when I absolutely have to because I can’t function anymore I feel so guilty when I wake up in the middle of the night and she is crying and I can tell by how worked up she is that she has been at it for a while and I didn’t wake up to help her because I was medicated.  There is not a week that goes by that she doesn’t have at least one appointment, but most weeks it is a bare minimum of 2 with her physical therapy and occupational and speech therapy.  Her OT/ST is an hour and a half drive each way.  She has to go to the children’s hospital that is an hour away at least once a month, but most times twice either on an emergency basis or for a scheduled test/procedure.  This is in addition to all of her well baby and sick appointments to the pediatrician and the other routine specialists appointments

Someone told me once that I need to not worry as much.  This of course was a person who had “normal” children.  I wonder how am I not to worry.  My daughter has a disorder that is not widely known in the medical community, which means there is no prognosis, children with ES can have years of no medical problems and then all of a sudden be hospitalized for months or die unexpectedly.  Even the most basic of emotions has been denied to me.  I remember when my daughter was in the hospital undergoing open heart surgery (at 14 months of age) saying a prayer to God and in the middle I had to stop.  My prayer started as follows, “please take this away from my child, and if you must take someone, please take me”.  However, my mind stopped right there and a terrible fear started.  I realized I couldn’t pray that prayer of any parent because the reality is if I die who would take care of my child.   Her level of care would suffer if anything happened to me or my husband.  Her development would slow, her medical care would decrease.

I’m sure some who don’t understand will not understand where this is coming from, especially since my posts on Face book and comments to family all focus on the positive.  Last night I had a conversation with another ES Mom whose daughter is almost 16 and I watched videos of how her child was as an infant and how she is now.  Without revealing personal information, let me just say that her child was just like Bella.  She was happy and loved life and learned signs and amazed her family with her ability to thrive despite her diagnosis.  The 15 year old she is now is as different as night and day.  After watching videos it hit me.  My daughter will eventually stop developing…she will eventually learn all the skills she is capable of…and the likelihood is high that either because of an illness that attacks her system, puberty, or just this awful disorder that she will lose skills she has acquired now.  Eventually we will have to look for a placement outside of our home.  I will not be capable of lifting a 120 pound adult all my life.  Her care will eventually require more than I am capable of giving by myself.  Not because I am a horrible parent, but because I am a normal person with regular physical and emotional limitations.  As I get older my body will get weaker.  Even though I know this rationally, my heart aches for that day.

Today is a bad day, not because I regret having my daughter or think less of her, but because I have been given a glimpse into what the future holds for me and my daughter.  And I must say my spirit is broken....

Emanuel Syndrome at OneTrueMedia.com

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

Make video montages at www.OneTrueMedia.com

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.