Sunday, November 20, 2011

November 2011 - "No More Surprises"

On Tuesday, November 15th, Brian took the day off from work to accompany Madison and I to her sound booth appointment at NYU.  That afternoon, Brian was walking back from lunch when his cellphone was Dr. Davis - our geneticist.

Dr. Davis asked Brian if he had time to speak.  Of course he did.  Dr. Davis began speaking and mentioned that the results are in and...Brian interrupted her and said, "Jennifer and I are hoping that it's Connexin."  Her reply, "It is."  A moment of silence occurred, Brian was speechless - not knowing exactly how to respond.  For 5+ months, the questions of "Why?" and "What Else?" were going through our heads.  Every time Madison leaned one way, or moved one arm more than the other - thoughts about her motor skills would go through our head.  Constantly dissecting all of Madison's actions, it was difficult to enjoy and appreciate everything without wondering (and fearing) what's next.  Finally he said, "So this means that the chances of having something else happen or anymore surprises is the same as any other (hearing) child?"  To which Dr. Davis responded, "Brian, there are no more surprises.  This is it."

As the conversation progressed, Dr. Davis and Brian discussed Madison's actual test results.  It turns out that Brian and I are carriers of a mutated gene called Connexin.  One of us has a mutated Connexin 26 gene, and the other a mutated Connexin 30 gene.  These are both recessive, so Brian and I (and any of our family members that happen to also be carriers) have never experienced hearing loss.  However, these mutations were passed to Madison from each of us, hence she was born with profound hearing loss.  Connexin 26 mutation is the largest genetic cause of hearing loss within infants.  The chances of two individuals having a 26 & 30 mutation is extremely rare.  Connexin mutations are more common in certain ethnic groups - but with Brian and I from different ethnic backgrounds, the chances of this happening was extremely remote.  They did not test for this in our genetic screening during the pregnancy.

With the questions of "Why" and "What Else" answered, we're finally able to focus on the "Now" and the next steps in our daughter's journey.  

November 8, 2011 - 5 months old

Mommy and I love to spend time together during naked baby massage sessions.  I get undressed and we do all sorts of stretches.  I think my mommy wishes she had massage time for herself too!
Alan is my older brother and I say hello to him every morning.  I love petting (grabbing) his fur.  He usually gives me a big lick across the face.
Daddy and I love reading books together.  My favorite book is "The Bellybutton Book".  I love my Bee bo.
I have a gas button on each of my feet that mommy can press when I'm backed up and ...
So in love with my feet! I found them a few weeks ago and can't stop playing with them.  I love putting them in my mouth.
Oatmeal.  I will be trying solid food for the first time next week.  Special baby oatmeal mixed with breast milk.  I am very curious to what it will taste like.  I'm sure I will make a huge mess during my first feeding session.
Night-time rituals consist of B-B-B-B.  Bath, Books, Bottle, Bed.   I'm finally sleeping through the night (most of the time).  I know my mommy and daddy are happy to finally catch up on sleep.

Sunday, November 6, 2011

November 1, 2011 - She's a Fighter!

I spoke with the nurse the night before, confirming Madison's CT appointment for Nov at 1pm at NYU Medical Center.  No food (in her case, milk) 4 hours prior to her appointment.  Luckly one of our friends forewarned us about her clothing... no metal is allowed in the CT-machine and most newborn onesie's have metal snaps.  Obviously we would have not even thought about this, but good thing we were able to plan ahead!

We arrived at the hospital around 12:30 and checked in at admitting.  Madison was given a cute beanie baby toy to play with as we filled out paperwork.  We arrived to the Radiology suite by 12:45.  It was a ghost town and nobody was in sight.  I began to pace the hallways (holding Madison, to keep her occupied)... a woman down the hall finally approached me, "This must be Madison."  I was so glad to find someone to help us, since our appointment was for 1pm.  I was getting anxious because Madison had not eaten since 8:45am... and she usually eats every 3.5 to 4 hours.  The woman told me the anesthesiologist was running late and that we probably wouldn't start until 1:15.  1:20pm rolled around... "It's looking like another 20 minutes." By now, Madison was passed out on my chest.  I was so glad that she was sleeping, despite being hungry.  Brian and I were amazed at how well behaved she was in the waiting room.  The nurse suggested that we try to place Madion in the bed and do the CT scan without sedation.  Why not give it at try, right? Miraciously she stayed asleep while they laid her into the table, draped lead apron over her and tucked her little arms to the side.  She was sucking on her pacifier and we were told "no sucking allowed".  By than Brian and I both realized this was going to be was a lost cause.... back to the waiting room we go.  An hour and 15 minutes after our scheduled appointment, the anesthesiologist finally shows up.  He tells us he was held up in another procedure and was sorry for the delay.  By this point, Madison was hysterically crying - she was tired, hungry and confused.  Everyone in the room was very rushed - trying to get the procedure underway.  Madison was in my arms... a gas mask was shoved over her face and held in place for about 60 seconds (which felt like an eternity for us).  In fact, the nurse commented "Oh my goodness, your daughter, she's a fighter!"  Madison was screaming the entire time, kicking her legs, waving her arms, and had such a confused look on her face, "What is going on mommy? Why are they doing this to me?".  By this point, Madison wasn't the only one crying... Brian and I left the room and the procedure began.  25 minutes later, the nurse came to get us.... "Madison was a champ and did just great!  She just woke up from the sedation. You can come get her now."  For the first time, it was somewhat comforting to hear our little girl cry.  We went into recovery, where we were able to calm her and feed her.  Within 20 minutes, Madison was back to her normal self.  We were discharged from the hospital by 3:30pm. 

Shortly after we got home, we sent an email to the ENT surgeon at NYU, Dr. Roland - letting him know the CT scan was completed and that we are anxious for the results.  Within the hour, Dr Roland responded, "The inner ear structures and cochlear appear to be normal."  What a sigh of relief.... This news meant that Madison is a candidate for Cochlear Implants!  Today was another GREAT day!

October 31, 2011 - MOOOO!!

My nanny took me trick-or-treating today.  No candy for me, maybe next year?


October 24, 2011 - "Yes, something seemed a little off"

We made Madison’s genetics appointment back in early July... The soonest available appointment was October 24.  With mommy in California, daddy and Gloria (our nanny) took Madison to Dr. Davis – our geneticist at Cornell Medical Center.  The appointment began with a lengthy conversation with an assistant to Dr. Davis, as she was teaching a class.  The assistant went through mommy and daddy’s family trees – asking numerous questions (all negative ones) about each family member, how old were they now, how old were they if they died, how they died, illnesses, children, if not children – how come, etc.  After Dr. Davis’ class ended, she met with Madison.  She gave Madison a routine physical and then went over the family tree.  The conversation with Dr. Davis felt a little weird, as her assistant didn’t tell her that Gloria wasn’t my wife.  In fact, Gloria told her a few minutes into the conversation, in which Dr. Davis replied, “Yes, something seemed a little off.”  With Dr. Davis getting a better understanding of the entire family history and situation (and now realizing Madison has European descent on her mother’s side, not South American) we went over the possibilities of what may have caused the hearing loss, as well as future concerns.

Hearing loss is either caused by problems during pregnancy/labor, structural impairments, or by certain genetic conditions.  Pregnancy was more than fine, mommy was very strict and stayed away from caffeine, splenda products and even deli meats!  Labor and delivery could not have gone any smoother.  Not a single day goes by with the thoughts of "what did we do to cause this??" Dr. Davis reassured us that Madison's hearing loss is not a result of something we did.  With Madison’s CT Scan still in the future – we haven’t been able to rule out structure.  In fact, Dr. Davis kept mentioning how adorable Madison is, and how coordinated she is – which may lead us to rule out structural issues.  This is because if there were structural issues, it’s not usually isolated to hearing loss.  For example, many children with hearing loss may require other types of therapy (i.e. occupational or physical).   If the hearing loss is not due to structural impairments, science is not always able to determine the genetic cause.  Because there are so many possible mutations, they are not able to test for every possibility.  The most frequent genetic cause is due to a mutation in the connexin gene.  In fact, the 3 most common ethnic groups are Ashkenazi Jews, Caucasians and Asians.  Apparently 1 in 33 people carry this recessive gene.

Based on Madison’s physical evaluation and her ethnic background (and not being half-Paraguayan) Dr. Davis encouraged us to have her tested for Connexin.  The only effect of the Connexin mutation is to prevent hair cells from growing within the ear/cochleae, hence, not allowing one to hear.  There are no other impacts to her vision or motor skills.  So, if she were to test positive, mommy and daddy can breathe a little easier.  If she tests negative, then there are several other syndromes out there that cause deafness in infants – each worse than the next, and many of them are impossible to detect before other symptoms appear.  

We thought that if they were to test for Connexin, it would be with a cotton swab.  How wrong we were!  Two vials of blood later, and a screaming baby…the doctor told us it would take anywhere from 3-5 weeks for the results.  And so we wait…