Kiley's story

Kiley has become a dream come true for us.  She has taught us so much about patience and acceptance

My husband and I had been married for almost 13 years.  We had a beautiful “typical” boy in 1999 with no complications.  When our son was 4 we decided it was time to try for another baby.   I had two miscarriages before I got pregnant with Kiley.  So when we got pregnant for the third try we were very cautious and held back our excitement for quite a while.  At 12 weeks, we believed we were out of the woods and could begin to look forward to the birth of our second child.  However, the pregnancy was not without its complications.

I was extremely sick until about 17 weeks.  Also around 17 weeks the doctor called with the news that my triple screen test detected that my odds of having a Down Syndrome baby were increased so I was sent to a specialist for more tests.  They found no markers for Down Syndrome and I opted not to get an amniocentesis.  The odds of miscarriage due to an amnio were 1 in 200 and those odds were not good enough for me considering I had two miscarriages before I got pregnant with Kiley.  I wasn’t taking any chances.  And since they found absolutely no reason to think she had Down Syndrome or any other anomaly, we thought there was no reason for it.   We were so relieved our baby would be “O.K.”.    I ended up on strict bed rest and medication at 24 weeks due to strong and constant contractions.    I was going in for non-stress tests once a week because of all the contractions.  At one of those visits I noticed that her heart sounded very erratic and called in the nurse. They sent me back to the specialist.  The doctor said that she wasn’t as concerned about her heart as she was about the amount of amniotic fluid I had.  But they decided not to do anything just yet.  However, towards the end of my pregnancy, the pressure on my chest from the excess fluid had become extremely painful, especially when I was lying down.   I had an ultrasound done at 33 weeks when the technician noted something was wrong and sent me to the hospital immediately. 

Kiley had developed a condition called hydrops.  She was swelling up due to fluid in her body.  And her heart was beating anywhere between 180 to 300 beats per minute.  They decided to deliver her by cesarean that day.  She weighed 6lbs. 8oz.   She was immediately taken by Life Flight to a children’s hospital a couple of hours away.  It was heart wrenching to watch them take away my newborn.  Not sure if she would be O.K. by the time I could get to the hospital.  The next morning, I made them discharge me and our family drove to the hospital they took her to. 

They immediately put her on Inderol, which worked right away.  They tried to take her off of it once just to see if she still needed it and she did.  Her heart rate jumped right up again.   But we were told that her arrhythmia could quite possibly just go away one day (we thought what a relief!)  Then she started vomiting.  They were concerned that she was not holding enough down to gain weight.  Just when they were about to make the decision to perform a Nissan fundoplication, she stopped vomiting but continued to gag severely.  But she was holding down her food, so surgery was cancelled.  The only thing we had to work on was feeding.  She still was not taking a bottle, but I was told that because she was born before 34 weeks she had not developed her sucking reflex and that she would eventually get it, it would just take time.  So I was taught how to put in the NG tube so we could take her home and work on feeding there.  We were certain we could get her to eat once we got her home.  Kiley had spent 5 weeks in the NICU.  

We were sent home with a heart monitor, an NG tube and a full page list of medications that were to be given around the clock.   Needless to say it was overwhelming.  We were so excited to finally take our baby girl home but our excitement quickly diminished once we realized the amount of care she needed.  We no longer had nurses by our side to help.  It was just us.  We continued trying to get her to take a bottle.  Sometimes she would take an ounce or two, sometimes she would take nothing.  I think once she took three ounces and I really thought, “hey we did it, we are on our way to eating!”  Well, that was only once. It was all so frustrating.  We also started noticing her arching her neck and back in an unusual way.  Then one day I was reading her discharge summary from the hospital and saw where they noted that she has low set ears, and extra creases in her skin, which I never even noticed.  I started doing research on hydrops and complications from it.  It was then that I realized that something was truly not right and that her heart condition was just the beginning.  We had to find out what it was.  
 
We went to the “best” genetic specialist in town.  He ran numerous blood tests, and did a chromosome analysis.  Nothing.  Then he tested Kiley for Krabbe disease, because of her extreme irritability.  Krabbe disease is usually fatal before the age of two.  It was the longest two weeks of our lives waiting for those results.  When the results came back negative, we felt we could breathe again for a little while.  But we still didn’t have an answer.    He finally admitted that he did not know what Kiley had and to come back in a year or two and maybe there would be new information and tests to run. Well of course that was not good enough!  We need to find out what was going on so that we could help her.  What if there was something we could do to fix it!  We were wasting time!   I spent hours and hours on the internet inputting her symptoms trying to find something.  We were told that there are a lot of people who just simply go undiagnosed for years or even for the rest of their lives.

When Kiley was 5 months old she aspirated and was having extreme difficulty breathing.  We took her to the emergency room.  The doctors agreed that it was time to give her a g- tube and perform the Nissan surgery.  We realized by then that her feeding problems were going to be long term.  Well, in the meantime she was running fevers that kept putting off the surgery.  The called in everyone to run their “tests” to see what was the cause.  She was put on antibiotics.  The Center for Disease Control was called in to run their tests.  The doctors ran their tests.  No one could figure out why she was running fevers, or the bigger question, “what did she have?”  Needless to say we spent a month in the hospital before the surgeon agreed to the surgery.  We finally went home with a new g-tube but no diagnosis.

We were introduced to Dr. James Gibson in December of 2005.  Kiley’s neurologist recommended him to us since he was tired of me not being satisfied with the answers, or lack of answers, he was giving me. That was when I first heard of Costello Syndrome.  He told us that her wrinkled palms were a very big indicator.  But she was still quite little so he wasn’t ready to give us the diagnosis because there were still some things that didn’t quite add up to a definite diagnosis.   And there was no test to confirm it.   Come back in 6 months!   So for the next 6 months I was obsessed with the Costello website.  Comparing, reading, questioning, hoping, denying.  I was always looking at the pictures and trying to see if any of them resembled Kiley.  Sometimes I was certain that was it.  Other times I wasn’t convinced.  There were so many similarities it was almost undeniable, but I think I was reserving my feelings in case it wasn’t Costello and we had to start back at square one again.  Costello Syndrome would be a welcome diagnosis considering some of the things Kiley had been tested for,   and what I had let my mind think she might have.  And these children walked, ate, laughed and lived full lives!  I wasn’t ready to let myself believe it was that just yet.  However, I did sign up to join the group.  Colin called to welcome us and gave me the most exciting news I had heard in a long time.  There was a test for Costello Syndrome now!  We got Kiley tested and sure enough she had the HRAS gene mutation confirming CS.   She was diagnosed June 7, 2006, she was 16 months old.

At 19 months old Kiley is still fed by g-tube.  She would take about 4 to 5 bites of food (pudding constancy, she did not know how to chew at the time.  She is very curious about food, but still has a hard time swallowing.  She still gags severely after each feeding.  She is currently on Inderol and Amioderone for her heart.  She has been diagnosed with pulmonic stenosis, chaotic arrhythmia and hypertrophic cardiomyopathy.  She is on prevacid for reflux.  She has a paralyzed vocal cord and tracheal malaysia.  But it doesn’t stop her from trying to talk!  She is sitting up well but can still lose her balance quickly. She is starting to bear weight on her feet.  She rolled over at 18 months.   She receives occupational and physical therapy once a week.  We see every specialist that there is a degree for.  She has become very social.  She smiles at everyone, but doesn’t want them too close!  She waves Hi to most.  She loves giving her Mom, Dad and big brother kisses. She has the most infectious smile.  She absolutely lights up when her brother, walks in the room.  She has the most wonderful brother who is patient with her and loves every new thing she does as much as we do!  She is FINALLY sleeping better.  She used to get up every twenty minutes.  I didn’t think we would survive much longer if she didn’t start sleeping better!  Kiley has become a dream come true for us.  She has taught us so much about patience and acceptance. 

When she was 6 months old I wasn’t sure how I was going to handle a child that needed special care, what was I going to do?  Our lives have changed forever.  My hopes and dreams for her are gone.  

Now….. I can’t imagine my life without her.  Our lives have changed forever, but in such a different way than I thought a year ago.  I have new hopes and dreams for Kiley, they are far from being gone.

Tena