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.  

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