The Most Common Rare Syndrome You've Never Heard Of

Friday, March 1, 2013

Cari Jack--Baby Judah

Lessons I learned from God, my husband Brian, my daughter Blair and my son, Judah

Usually you learn life lessons at the end of a story.  I am going to tell you what I learned from the very beginning.

               When I found out I was pregnant with our second child, I was a little shocked.  We had planned on trying after we got home from our Las Vegas trip for a friend’s wedding but instead, a week before we were to leave, I got the positive sign.  It took a little over a year to get pregnant with our first child so naturally we didn’t think that the second one would happen so easily. 

Life lesson #1:  Things always happen when you least expect them to.

               Things were going along as they did in my first pregnancy, I was sick as a dog.  Although it seemed a lot worse this time, I was not able to function as well as before.  I didn’t really think too much of it other than I was just not made to handle pregnancy well which was quite the disappointment because for the most part, I loved being pregnant.  My husband, Brian, was a full-time student in seminary going for his Masters of Divinity degree and our 2 ½ year old daughter, Blair Lillian, was quite the handful.  Since I was so sick, most of the responsibilities fell to Brian.  Dinner, school, cleaning, parenting.  He was my savior during that time, and often still is.

Life lesson #2:  God will bring you true love if you let Him.

               When we went in for our 20 week ultrasound I was so excited.  Would it be a boy or a girl?  As we looked on the screen, it couldn't have been more obvious.  If we didn't want to know it got spoiled right then and there.  I looked at Brian with a gleam in my eye and got one in return.  We explained to Blair what we were looking at but I don’t think at that age she had the full understanding.  She was excited to have a baby brother, or at least, she thought she was.
               When I went in for my next checkup that is when the ball dropped.  There was fluid on the baby’s lungs.  They had caught it on the ultrasound.  They didn't explain to me very well what exactly that meant other than I was going to need an ultrasound every week from there on out.  I had a different doctor that day as my regular was on maternity leave but soon to return.  I was worried but felt that the doctors had it all under control.  It wasn't until my doctor returned that I knew what exactly this all meant. 
               I had to go to this appointment by myself as Brian had other commitments.  I figured it would be fine.  When I got to the office and they called me back to the exam room, my doctor came in with a worried look on her face.  She asked if the substitute doctor had explained the situation to me.  I had told her that the baby had fluid on his lungs and they wanted to do weekly ultrasounds to keep an eye on it.  She looked at me with those dark brown eyes and said, “Cari, in these situations, sometimes the babies don’t make it.”  I was instantly terrified and angry that I had been there alone that day.

Life lesson #3:  Never go to any doctor’s appointment alone, even if you think it is routine.

               On my way home, crying hysterically, I called Brian and relayed the message.  He could barely understand what I was talking about through my sobbing.  When I got home, we embraced, cried, talked, cried more, and decided on two things.  One, we would get through this as a family.  All three of us.  And we were going to love that baby no matter what happened.  And two, that we were going to pray about it, hard.

The weeks went by, going in for my ultrasounds regularly.  In the meantime we were trying to decide on a name.  This is harder than it may seem.  My husband and I could never agree on anything when it came to our daughter so I knew this would take some time!  So, we decided that we would both come up with one that we liked and wait and see when the little guy came out which one fit the best.  We had decided when we were expecting with our daughter that we were going to stay away from the “J” names as I didn’t want anyone calling him “JJ” since our last name is Jack.    So naturally, I heard a name on TV that I instantly fell in love with, Judah.  Going through my baby name book I also came upon Reece.  And thus became Judah Reece.  I now had to decide how to tell my husband that I wanted to name our baby a “J” name.  He laughed at me as always and told me the name he had picked out, Lane Ezra.  As we both liked our respective names, now it was just a waiting game.
                As the time got closer to my due date, which was January 19th, the more complications arose.  I was getting huge.  Like gigantic.  I couldn't walk, sleep, or breathe without pain.  This was definitely different than my first pregnancy!  The doctors told me that since the baby had fluid on his lungs, he couldn't cycle the amniotic fluid correctly which meant that it just kept building up.  And building up it did.  December came rolling around and the doctors had a plan of doing an amniocentesis on the 21st and depending on if the baby was ready, scheduling a c-section for Christmas Day.  That sounded like a great plan as I was definitely ready to have this baby out of me as quick as possible with as little complications as we could muster.  He had other plans though. 
                On December 10th Brian’s middle brother, his wife and their two children came to visit as we had plans to go to a family Christmas the next day.   But the next morning we could see that nobody was going anywhere.  The meteorologists predicted that we would be getting 10 inches of snow that day.  We ended up getting 14-16 inches.

Life lesson #4:  Meteorologists have one of the hardest jobs in my opinion, and more often than not, they just don’t get it right.

                The roads were not good for travel and we were stuck inside.  Since we had time on our hands, my brother- in- law, Shawn, asked if I could give him a haircut.  I had been attending cosmetology school before I got pregnant but had to take a leave of absence due to all the complications.  It ended up being the longest haircut that I have ever given anyone.  I kept having to sit down because of back pain.  It got to be so bad that finally my sister-in-law, Vanessa, decided to start timing how often I sat down and how long it lasted.  I can honestly say that labor didn’t even cross my mind.  Why would I be going in to labor over a month early and in the middle of a blizzard? 

Life lesson #5:  Even though you are a woman, you can’t always tell what is going on with your body and that is ok to admit   And refer back to lesson #1: things always happen when you least expect them to.  Always.

                We decided to call the doctor’s office to see what I was supposed to do.  Pretty much they told me that if I thought I needed to come in we could try to get there but all they would be able to do if I got there was try to stop the labor.  After seeing cars stuck in the parking lot outside of our apartment building, I decided to wait it out.  Luckily I got to sleep that night and only two contractions woke me up.     

The next day, the roads were clearer and we decided to go in to the hospital while we had family there to watch over our daughter, Blair.  Once we got there, they tried to stop the labor to no avail.  I will never forget the look on my doctor’s face when he came waltzing into my tiny room.  “This isn’t what we had planned, “he said with that stern look on his face.  I just told him that I just really didn’t want to do that amniocentesis because quite frankly, that freaks me out! 

                They took me back to surgery and with my husband by my side, we waited to hear that oh so important cry.  It took quite a while to get him out however because of all the fluid, the assisting doctor said she thinks I broke a record for all of her deliveries to date!  Finally, I heard a sound.  It wasn’t really a cry, more like a “meow”.  The baby was also retaining much fluid and at 34 weeks he weighed in at 6 lbs. 1 oz.  They were able to drain the fluid off of his lungs right away with a syringe.  I was going to be in surgery for a while yet as this was my second c-section and they go through and check for excessive scar tissue.  I sent Brian with the baby to make sure he was fine and to figure out what his name was.  When I got into recovery, Brian was waiting for me.  The baby was doing ok, they were getting him hooked up in the NICU.  I asked Brian what his name was going to be.  He said, “He definitely looks like a Judah.”  On December 12, 2010 at 8:04 pm we welcomed Judah Reece Jack into the world.   

He was the second most perfect thing I have ever laid my eyes on.  Contrary to other newborns in the NICU, Judah was huge.  With all of the fluid he was retaining he couldn’t even open his eyes.  He also couldn’t breathe on his own so he was intubated right away.  Judah had all kinds of tubes and wires coming out of him, it was so overwhelming.  Having just had a baby, seeing him like that and not really knowing what was going on, I couldn’t hold it together.  I stared and cried.  I asked the nurses what his risk was like.  I didn’t know if this was all standard procedure or if we were about to lose him.  They told me it was all precautionary but couldn’t tell me whether or not he would be all right.  We just decided to stand by him as long as we could, try to get some rest and let the doctors and nurses do their jobs.

Live lesson #6:  You will surprise yourself at how strong you can be in certain situations.

               The NICU experience is a whole different world.  All of the sounds, the people moving in and out, the overwhelming sight of your struggling baby, the medical terms being thrown at you and trying to keep them all straight in a sleep deprived state of mind.  But the very great thing is the nursing staff.  We were blessed with some of the best NICU nurses in the world.  Without them I don’t think we would have made it through.  That next week was strange, trying to see if Judah would be able to breathe on his own, pumping and freezing my breast milk for when he no longer had to be intubated, learning all of the medical terms, watching them give him multiple medications to relieve the fluid build- up he had retained, remembering to wash your hands and arms every time you wanted to get remotely close to your own baby, learning how to change the smallest diapers I have ever seen and getting peed on every single time, and that is no exaggeration.  I got peed on every single time!  We had many friends and family come in to see him.  But the most important person we wanted to be there couldn’t be.  Since it was December and the middle of cold/flu season, Blair was not allowed to enter the NICU.  Anyone under the age of five was not able to enter because of their germy little beings.  We tried to explain to her what was going on and show her pictures of Judah, but at age three it didn’t really come together for her.
               Judah was finally put on a c-pap machine for breathing, which meant he didn’t have to be intubated anymore.  We were constantly watching his oxygen levels to make sure they didn’t go down.  They had taken it out once and had to put it back in because his levels were too low.  He had a feeding tube going down his throat, the c-pap machine, goggles because he was a little jaundice, wires going into his bellybutton, a pic line, an IV and a heart monitor.  We would try to make light of it and when he had his whole getup on we would say he looked like a fighter pilot.  This was when I had learned the significance of Judah’s name.  As I had mentioned before, my husband was attending seminary to become a Lutheran pastor.  What I didn’t know at that the name Judah comes from the fourth son of Jacob and this is the ancestral line of King David and Jesus.  Jesus was called the Lion of Judah as the savior of God’s people.  This gave us hope that God was watching over our little Judah and our family. 
               Finally the day came; they were opening up one weekend for children five and under to visit the NICU.  We had anticipated this day, the day when the big sister could finally meet the little brother.  It was and still is one of the happiest days of my life.  I can’t even put into words the experience that we had- so you will have to watch for yourself 

               Life lesson #7:  Children really are God’s miracles and I was blessed immensely with the ones I got to mother.

And thus became the inseparable duo of Blair Lillian and Judah Reece.  

It’s funny where life takes you sometimes.  I never had imagined what it was like having a baby in the NICU.  I don’t know how parents do it when their babies have to stay there for an extended period of time.  Mid-January we got a visit from a geneticist.  She was explaining that she wanted to send in a blood test for Judah.  She said that she noticed a few things about him that pointed to something called Noonan Syndrome.  As she stood there pointing out all of the physical “abnormalities” about our perfect to us newborn, I was in a state of shock.  How could someone be so insensitive to a couple of parents trying to figure out why our baby couldn’t come home, what to do with a toddler while trying to be at the hospital, and trying to do school work and a job on top of that!  If I could ever be capable of hating someone, she was on the top of my list.  She continued to tell us that the test results would take two months to come back, maybe longer and that if it came back negative, that didn’t necessarily mean that Judah didn’t have Noonan Syndrome and that they would probably still treat him as if he did.  We agreed to the test but were still so confused.  Everything was a blur for the next couple of months.  We decided not to tell anyone about the test until we knew something for sure.  Why stress everyone else out when it wasn’t necessary.  So we held it all on ourselves.

Life lesson #8:  Don’t ever hold something that important to yourself.  Ask for help and guidance when needed.  We are only human believe it or not.

               I can’t speak for Brian, but I couldn’t take it.  I am not a patient person to begin with so this was killing me.  What did they mean that even if the test came back negative that didn’t mean Judah didn’t have it?  Would they really treat him for something that he didn’t have?  What if it came back positive?  What did that mean exactly?  What were we supposed to do from there?  So many questions.  I knew if I didn’t focus on something else, this would eat me alive.  So, we focused on getting Judah to eat and get home.  Well, we got one accomplished anyway.  Judah ended up getting a Gastrostomy Tube (g-tube) placement at the end of January.  We learned how to care for that, he was breathing on his own, we had his reflux issues somewhat controlled, so we were able to bring him home the second week in February.  This means we spent about two months in the NICU.  Blair was bounced from apartment to apartment in the seminary family housing with volunteers to watch her while we were at the hospital with Judah.  If it wasn’t for all of those people, we would not have survived that two months as well as we did.

Life lesson #9:  God will surround you with great people, if you let Him.  And refer back to Life Lesson #1.

               Life at home was crazy as you could about imagine.  Working on trying to get him to eat on his own and failing most of the time and then what he did eat he just threw back up. Going through the motions and taking him to so many doctors’ appointments I had lost count.  After being in the NICU for so long Judah developed torticollis and couldn’t move his head to the left and thus didn’t really move his left side at all since he couldn’t see it.  We started going to physical therapy for that as well as a chiropractor.  We were getting in-home care for occupational therapy and a nurse came once a week to check on him.  We were seeing a cardiologist because they found that Judah had a mild pulmonary stenosis.  We were seeing the surgeon for check-ups, a gastroenterologist for his g-tube and nutrition, his pediatrician regularly, the geneticist wanted to keep an eye on him as well.  And I probably have forgotten some by now.  March finally came and we got the call.  Judah’s blood test came back positive for Noonan Syndrome on the PTPN11 gene.  I never realized how relieved I would be when I heard the news.  Although I was sad that this had happened to my baby, I was glad they knew what it was so they could treat him correctly. 
               I didn’t know until we joined the Noonan Syndrome Support Group how lucky we were to have a diagnosis.  There are many families out there that don’t.  We told our families and told them that we didn’t really know what this meant for Judah, and we still don’t.  We just take day by day and are grateful for the progress that he has made.
               Judah is now 2 ½ years old and is doing wonderful.  We are three months in for not having used his g-tube and are waiting to hear when he can get it removed.  He has been attending the Spokane Guild School in Washington State and receiving physical, occupational, and speech therapies.  We have found out that he not only has a mild pulmonary stenosis but an atrial septal defect (ASD) as well.   We are seen regularly by the cardiologist, ophthalmologist, pediatrician, orthopedist, nutritionist and endocrinologist.  We have not, as of yet, decided to put him on growth hormones but is being monitored to see if this is something that will be a part of his future.  Judah has grown tremendously just in the last several months; we are amazed at his progress.  We are proud parents to have such a smart, loving, funny, playful little man.  And he has the best big sister in the world who teaches him something new every day.

Life lesson #10:  Every day and every one is a miracle, no matter who they are.

 We can’t wait to see what kind of a man Judah matures into and will be ready for any challenges that might come along.  We know that God is with us and are grateful for the support we get from family, friends, and the support groups we are a part of online.  Thank you so much for the Rasopathies foundation, the Noonan Syndrome support group, and to all the families that participate and lend advice and prayers.  We are forever blessed.  ~ The Jacks


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