Update: Cystic Fibrosis (& Three Weeks Old!)

Today is Avery's 3 week birthday!  And guess what, she's actually back to birth weight finally :)  Here are some of the things she is up to at three weeks old:

* sleeping

* eating

* pooping

* occasionally opening her eyes to check out the world

* sleeping

And while we are loving time with our wonderful newborn, we also have been going through a very difficult time waiting to hear news about her health.  As you may have already known, both Matt and I found out about three years ago that we are cystic fibrosis gene carriers.  It was shocking news to both of us as neither of us had ever heard of it in our families at all.  But those pesky recessive genes can stay hidden for a long time... and it just takes one other gene carrier to increase the odds of someone being born with the disease.  The odds of both Matt and I carrying the gene were incredibly small (something like 1 in 7000), but no matter the odds, there we were faced with the fact that we had a one in four chance of having a child with Cystic Fibrosis.

As you may also know, we found out a few weeks after Benjamin was born that he was Cystic Fibrosis-free... and we cried and cried when we finally got that great news.  Despite not having CF, Matt and I decided to continue raising money for the Cystic Fibrosis Foundation through the yearly "Great Strides" fundraising walks knowing that we eventually wanted a second child and faced another battle with odds.  

We are so thankful for such a wonderful big brother!

During my pregnancy with Avery, we were torn about getting an amniocentesis to find out if Avery had CF, and ultimately, we decided that we didn't need to put her at risk just to find out early.  And so we waited, and waited some more.  And then Avery was born looking perfect and wonderful, and we simply had to wait.  She was having some trouble gaining weight, and suddenly that became a red flag.  And then we got her newborn screen back - another red flag.  (And truth be told, all along I had a very bad feeling that something might be wrong - another red flag.) 

And so our wonderful pediatrician (I can't say enough about how great our doctors have been!) set up an informal meeting for us with the Director of the Cystic Fibrosis Center at Children's Hospital.  That day, the doctor put Avery on some preemptive enzymes to take before each feeding just in case she did have CF which would help her absorb the fats and proteins that she was missing out on.  Sure enough, she started gaining weight - another red flag.  The doctor at Children's (who was about as kind as could be meeting us on his own time and offering a lot of great advice but not too much to scare us) called the state lab and asked them to run a genetic panel on Avery's second newborn screen testing specifically for the CF genes.  It was time to find out once and for all.  

{Let me just tell you that waiting for the news over the past few weeks sucked the life out of me.  I was a walking zombie. I don't wish that purgatory on anyone.}

Yesterday afternoon we found out that Avery does indeed have a copy of Matt's gene mutation and a copy of my gene mutation.  The doctor called and simply said, "Ali, I'm so sorry, but Avery does have Cystic Fibrosis." Yesterday was the worst day of my life.

I'd like to say that in the past 24 hours it's gotten easier.  Maybe it has, and maybe it's gotten harder... to be honest, we're still not quite sure.  I sobbed.  And sobbed.  And sobbed some more when we got the news.  I cried while feeding her in the middle of the night.  I cried while thinking about what her life may look like.  I cried for Benjamin knowing that his life will also be affected having a sister with CF.  I cried for the loss of expectations that you carry for your child, even if they are irrational.  And I cried for the unknown, since that is much of what we're facing.

We met with the Director of the CF Center today at Children's Hospital and learned a little more about what we'll be doing for the next six months or so.  Avery is taking enzymes before eating (with applesauce - who else can say their newborn eats applesauce?!), is taking a CF-specific multi-vitamin to help her with some of the vitamins her body has a hard time absorbing, and will be getting small additions of salt throughout each day to make up for the extra she loses compared to the average person.  These will be routine for her whole life most likely.

There's so much more we can say but not a lot of energy to say it.  We can talk about the positives and negatives running through our heads every minute of the day, we can talk about what life will look like with an infant/a school-aged child/a teenager/an adult with CF, we can talk about what the hard days will look like, we can talk about the odds of her being hospitalized this year, we can talk about how scary and stomach-turning it is to read about the life-expectancy of people with CF, we can talk about the financial burden of having a child with a life-threatening genetic disease, we can talk about a million things, really... but the truth is we don't have many answers.  We're taking all of this in small bits and pieces so that we can digest it and get prepared for more.  It's not easy, and I know it especially won't be easy for Avery.  God-willing, the doctor believes she will be a "regular" little girl.  She'll just have another part of her life that will involve managing and treating her disease, sometimes more vigorously than other times.  My biggest prayer of all is that she lives a long life.  Please God, let her live a LONG life.

We learned today that the Cystic Fibrosis Foundation has been responsible for most of the amazing advancements that have happened in the last fifteen years with the disease.  New treatments, new drugs, longer lives, etc.  They have also helped provide assistance and information to families and money for research and resources.  The CF Clinic here in Denver is the largest pediatric CF clinic in the country, and they have done a lot of work with the foundation as they participate in clinical trials, research, and the treatment of 400 kiddos with CF.  It is amazing what they've accomplished, and we hope and pray they can continue to find better treatments to help the lifespan increase for each and every person with CF, and we ultimately hope and pray they can find a cure.  There are only 30,000 people living with CF in the United States, and Avery is likely only 1 of 20 new patients that the CF clinic at Children's Hospital will gain this year.  It's a rare disease so we are thankful that the Foundation is hard at work on our behalf.  If you have any interest in contributing to their life-changing work, please consider donating to: www.cff.org.  Thanks for even thinking about it.

Here's a few more random pics of our sweet girl: