Cracking the Code.

N1303K.  and Delta I507.

Pretty meaningless code to most people, but this combination is the one, two punch of Cystic Fibrosis in our house.  These are the two genetic mutations that reside on the boys' Chromosome 7 and misdirect the protein that causes CF.  It is these two bits of data stored in Michael and Dylan's double helix that causes us to spend tons of time cleaning up after it.  One mutation from me and one from my husband.  They were meaningless to me at one point in my life.  But are no longer.

I barely remember high school science classes...  earth science, biology, chemistry.  I vaguely recall my monotone, white-haired teacher talking about recessive genetic disorders.  The most I can recall from the topic are X-chromosome disorders like hemophilia, and that hemophilia typically is more prevalent with males than females.  I can also visualize the 4-square diagram that the teacher would demonstrate the probability of 'carriers' having offspring with genetic disorders.

There it is.  That is pretty much the extent of what I absorbed.  That's all.

I was more likely swooning over my latest crush or visualizing my performance at my volleyball game after school.  I never really embedded the science in my brain.  Why would I need it afterall?  I blew it off as I got older as something that I needed to learn for school and would never need to 'retrieve' from my brain's file folders again.  Let's face it, as an adult, I worked in sales and marketing for a media conglomerate.  My job was brands and persuading people.  My brain's filing system had tucked any science that I did once know way back in a dusty old manila file somewhere near the files for trigonometry (groan) and French rolling jeans (double groan).

There are moments in my life that are completely unreal.  There are the times that I reflect on these moments and start to connect the dots, even back to that unnecessary science lesson.  It is then that I realize the astounding coincidences and ironies around me.  They transcend explanation.

After college, I became close to a friend who was getting her Masters Degree in nutrition.  She and I lived together for a year and we both stood up in each other's weddings.  Our husband's both graduated with the same degree from the same esteemed university and went on to work (and still do 11 years later!) for the same big accounting firm.  To say the least, I have trusted her from the very first day I met her.  She is a true, caring friend, who is also now the mother of two little ones.

I recall sitting at my desk at work in between conference calls and sales planning meetings when I receive an email from my friend.  She had become a dietitian at Children's Memorial Hospital in Chicago, and on this particular occasion, the email is not about dinner plans or a bachelorette party.  Instead, she was requesting donations to support her participation in a fundraising walk.  It was for money to cure this thing called...

Cystic Fibrosis.  

Humph.  Shrug of the shoulders.  What's that?  It sounds pretty ominous, I think, but I have no clue.  I just know that my friend is doing good and I decide instantly that I will support her.  My phone rings and I swivel my chair around for my next marketing call from New York.  I gaze out my window at the quintessential Chicago view.  The Wrigley Building dead center of my office window emanating its beautiful architecture.  It's iconic clock staring back at me.  The void of the Chicago Sun-Times Building now starting to be filled with Donald Trump's ego, still only a few stories tall.  As voices join the call, I peer out at the western view of the Chicago River and Wacker Drive as it bends around South to travel past more colossal skyscrapers like the Sears Tower.  "Is everyone on the phone?  Who are we still waiting on?"  And the call surges forward focusing on whatever marketing plan is necessary or whatever fire drill is scorching from our executives. In my work distraction, my friend's email remains quietly in my inbox.

It isn't until weeks later that I remember, "Oh crud!", I forgot to make that donation...  for whatever it was that she was fundraising...  what was that again?  It sounded medical, sort of familiar.  I open the email to refresh myself and click through quickly to make the donation.  I don't want to forget again or get distracted from this task.  I click through the menus...  I don't know.  Do I "join the team" or do I "make a donation"?  I think it's a donation...  oh, I don't know.  After I make the donation, I call my friend to ask her to make sure that I did it correctly.  I curiously ask her how she got interested in this cause and she casually mentions that she has a colleague who treats kids at the hospital for this condition...  Cystic Fibrosis.  "Oh, cool.  Sounds like a good cause," I respond.  Then I follow it up with, "What nights can you guys catch dinner next month?"

A meaningless memory.  I have many of those that are buried deep in my brain never filed in my archaic system where the history notes and the high school gossip now reside.  These memories are in unorganized stacks, piles of different colored papers, scribbled with notes.  Some typed neatly, some are memo-style, and some are faxes.  But this donation memory gets lopped on the to the top of the pile and slowly gets buried with time under more useless information.

I never think about it.  I don't even hear that term again...  well until about a year later, when I get a call from my doctor early in my pregnancy to tell me that I am a genetic carrier for this thing called Cystic Fibrosis.   Again, I don't even recognize the term when he says it.  I am juggling my new promotion, which throws me back into the world of sales.  I am recalibrating my career and have a lot going on.  Oh, yeah, and now I am pregnant.

"It's the most commonly carried gene among Caucasians for genetic disorders, but it's rare and unlikely that your husband is also a carrier.  It's probably nothing, but you should have your husband tested, just so we are sure.  No hurry."  I hang up and have a lump in my throat.  What was he just talking about?  I call my husband and am starting to cry.  His positivity and no-worry attitude puts me ease.

When his test results a couple weeks later come back, I get the call.  He is also positive as a carrier.  I just don't know what to do with this information...  and after some Googling, is when the high school probability table comes back to me.  25% chance that our baby with have this thing called Cystic Fibrosis.  Where in the world have I heard that before?!  After a few days of heartache and my brain going to worst possible places, my husband reassures me that everything will be fine.  "There's a 75% chance that our baby won't have this... CF," he points out.

Huh.  75% huh.

For whatever reason though, this is still unsettling for me.

As time passes, there are more intersections and ironies.  After Michael is born, there are things passed over.  Doctors who dismiss the CF carrier conversations.  There are glaringly obvious symptoms that we wonder about, but as new parents don't know better.  But my gut keeps telling me to continue asking and pressing for more answers.  It is when Michael is 10 weeks old that we finally proactively have him sweat-tested for CF.  Not a real shocker for me, since as many moms can attest to...  you just have instincts about things.  Forget probability.  Maternal instinct trumps probability.  He tests positive, and that's when I choke down my ignorance.  Quickly, it is replaced by heartache.

We walk into the small medical exam room with sweet Michael in the baby carrier.  I am washed away in tears and my husband is quiet.  We spend time talking with the doctor, who explains everything about the clinical aspects of what this this diagnosis means.  She provides the comfort and support we need and also reveals the immediate steps that need to be taken to ensure our baby's best days ahead.  When we are through talking to the doctor, we speak with nurses, a social worker, and finally, a CF dietitian.

"Hi, I hate that we are meeting under these circumstances," the dietitian says as she comes in and sits down.  What did she just say?  I am confused.  There is both sadness and heartfelt kindness in her eyes.  "I am friends with your friend..." and states her name.  I am stunned.  That email...  I stammer in my head.  That donation from last year...  She is my friend's colleague.  And now, we are all connected in an inexplicable way.  My friend had walked last year to raise money for her patients who have Cystic Fibrosis.  And now, my baby boy is one of her patients.  It is all too much, along with the fact I am shell shocked purely from the diagnosis.

She sees my blank expression on my face as the wheels turn in my head.  I explain that I donated last year to the walk.  She smiles, but I can tell that she is already knew the foreshadowing of our connection.  "Everything will be okay.  Michael will be fine.  There are some things that we should discuss.  I know the doctor had mentioned to you that he needs to start enzyme pills with his bottles and I want to show you how to give them to him.  We will have a plan to help gain weight back.  Everything will be okay."  She can see that I am now past the inconceivable connection that we share and I am now drowning again in my grieving.  She realizes she needs to work fast to ensure that I get all the critical information before my head goes below the water level as despair and coping wash over me.  I can barely tread any longer.

It's these moments peppered throughout my life that make me do double-takes.  There are so many of them, I can't piece them all together.  I wonder what special, insightful moment is next and how the the surprise will be wrapped?  Will the the next moment tell me more about my future or more about my past?

Back to that code, within the immediate weeks following Michael's diagnosis, we learn more about these genetic blips.   First, our boys have rare mutations for a rare disease.  The odds are just crazy, but I guess I am not surprised.

• There is a CF gene called Delta F508 that accounts for about 70% of all CF mutation gene copies in the world.
• About 85% of those with CF carry at least one copy of this mutation.
• Approximately 50% of the CF population have both copies being this mutation.

To take a step back, our boys do not carry this mutation... at all.  Neither of their two copies are Delta F508, making them unique in an already unique group of people.

Since my basic science class from sophomore year of high school, I have since learned so much more about these CF mutations.  These bits of genetic code have run through history and along family lines for many generations unnoticed.  That is how it went in our families.  A silent gene carries on through the centuries.  Now as I study and learn more today, I can share a couple specific things about our code.  It has given me wisdom and insight greater than me.  We know that the N1303K mutation tends to follow Mediterranean lineage.  Not shocking since my husband is Italian.  And as I start to uncover information, the only thing I can find published in multiple academic medical journal abstracts shows a a higher concentration of CF population with this mutation living in Lower Normandy France.  France?  My family is Scottish and German.  I can't for the life me process... French.  My mutation is French?

Years pass, and we refocus our lives away from genes that we can't change, but we work on how we live every day to stay healthy.  Michael becomes a toddler and then a preschooler.  We have another baby boy, Dylan, who is a busy body and 'active' doesn't even describe his inability to sit still ever.

Just before Michael turns three, I decide it would be a fine idea to start to untangle our ancestry.  Nice, neat books filled with artifacts and information for our boys to understand their ancestors' stories.   I start with my family history on my father's side.  I spend days combing ancestry websites and doing web searches looking for information.  I begin compiling documents and the family tree where some generations span as many as 13 siblings.  As I research, I become intrigued with my ancestors further up the generations, those hard-working people who came to America and I want to understand why they chose to come here.

I find a blurb by someone who also carries my maiden name and has researched our family clan.  He tells the story of our Scottish clan that moved to Ireland and then on to America to start a new life away from religious persecution.  But the author goes beyond and takes even further back.  It is this that immediately catches my attention.  "The surname (my Maiden name) is one of great antiquity. It originated in the area of the Picts, the eastern portion of Scotland, where they (Picts) were allowed to settle on condition that all their Kings agree to marry an Irish Princess. The Picts are considered to be among the most ancient of the founding races of Scotland. Bede, a respected historian (born 673), estimated that they came to Scotland some fifteen centuries BC...

from France."

The hairs stand up on my arms and back of my neck.  There is my answer.  I have no doubt that this little genetic blip has traveled from France before Christ's time all the way to Scotland, to Ireland, to Philadelphia, to Virginia, to West Virginia, and then to Chicago.  I read further and find the my ancestor's motto was "J'ai bonne esperance."  In English,

"I have good hope."

That says it all.

I understand that this gene has passed through the generations since an estimated few hundred years before Christ.  It has been part of my family and been there all along.  It is part of me.  It is part of us.  Remarkable and unmistakable.  I now look very differently at this teeny tiny gene.

My brain has since refiled this information about genetic disorders and how the work.  I have pulled them out of the filing system, dusted them off, and planted them at the front of the filing cabinet.  I have also added to the file more information that spans the centuries.  These special bits of information I will no longer need to sift through piles of memories to retrieve.  Instead, they are burned into my brain, my heart, and my soul.  Forever.

These two strings of letters and numbers have led us in a new direction in our lives and given us beautiful context of survival and life.  And HOPE... or direct translation, "good hope".   They certainly make our daily lives tricky and staying healthy for the boys but there are blessings hidden inside.

Meeting new friends and caregivers that have forever changed our lives with their wisdom, support and grace...

Connecting with incredible stories of heroism of individuals battling against their own genetic blips, which we would not have truly heard otherwise...

Uncovering family history about ancestors who also carried this genetic code deep inside of them.

Most of all, these two genetic mutations are challenging us to look at the before, the now, and the some day to learn more about ourselves.  Without this code forever altering our lives, my story just would not be quite what it is today.