Wednesday, March 11, 2015

If you're new to the blog...

Here is a little bit about what cystic fibrosis is and how it affects the body.  (

What Is Cystic Fibrosis? 

Cystic fibrosis (CF) is a life-threatening genetic disease that primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States (70,000 worldwide) have CF.

In people with CF, a defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

  • Clogs the lungs and leads to life-threatening lung infections.
  • Obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb vital nutrients.
When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria (or germs) to get stuck in the airways, which causes inflammation (or swelling) and infections that lead to lung damage.

Mucus also can block the digestive tract and pancreas. The mucus stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help people grow and stay healthy. People with cystic fibrosis often need to replace these enzymes with medicine they take with their meals and snacks, which helps them digest food and get proper nutrition.

How do people get CF?

Cystic fibrosis is a genetic disease. People inherit CF from their parents through genes, which also determine many other characteristics, including height, hair color and eye color.
CF is caused by mutations in a gene that produces a protein, called CFTR. The CFTR protein controls the flow of salt and water in and out of the cells of organs like the lungs and pancreas.

To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease themselves. Each time two CF carriers have a child, the chances are:
  • 25 percent (1 in 4) the child will have CF
  • 50 percent (1 in 2) the child will be a carrier but will not have CF
  • 25 percent (1 in 4) the child will not be a carrier and will not have CF
There are more than 1,800 known mutations of the CF gene. Because there are so many, most genetic tests only screen for the most common mutations.

How is CF treated?

Treating a complex disease like CF requires therapies that address problems in different parts of the body, especially the lungs and the digestive system.
Because the type and severity of CF symptoms can differ widely from person to person, there is no typical treatment plan for people with the disease. CF Foundation-accredited care centers work closely with people with CF and their families to create individualized treatment plans.
However, each day, most people with CF typically:
  • Do some form of airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.
  • Take inhaled medicines — liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
  • Take pancreatic enzyme supplement capsules with every meal and most snacks to improve absorption of vital nutrients. People with CF also usually take multivitamins.
The CF Foundation supports research to discover and develop new CF treatments, and maintains a pipeline of potential therapies that target the disease from every angle.
The most recent drug approved for CF, ivacaftor (Kalydeco™), treats the underlying cause of CF in a small number of people with specific mutations of the CF gene. All other CF therapies available today treat the symptoms of CF.

Work is ongoing to find additional CF therapies that could help improve key symptoms of the disease by targeting the disease at its root.

Monday, December 22, 2014

"As long as it's healthy!"

I was talking to someone the other day about whether or not they were planning to try to have a baby soon.  We talked about the timing and he said they were trying to plan around a vacation and a few other things.  But then he said, "honestly, it doesn't matter when we have a long as it's healthy!"

I used to say that too.

I never really thought about what that might sound like to the mother of someone whose baby was not born healthy.

Just so you know, it sounds or rather feels like a punch in the gut.

And I know he didn't mean it that way.  No one means it that way. It's just something we say.  We all want our babies to be healthy.

But what happens if they're not?

We all have this vision of what life will be like after the baby is born.  Dressing her up in cute little dresses and hair bows, showing her off to friends and family, watching her learn to sit up, crawl, talk and walk.  Nowhere in that vision do we see our babies taking medicine every single time they eat.  We don't envision ourselves pounding on our baby's chest and back for an hour a day to help break up the mucus in her airways.  We know there will be doctor appointments, but we never thought there would be THIS MANY appointments!

None of this was in our plan.

While I know I said the exact same thing when I was pregnant or thinking about having babies of my own, I now see things differently.  It's okay that my baby wasn't born healthy.  It's okay that things didn't go according to our perfect plan.  She still does all of the normal things that kids do.  She makes us laugh, drives us crazy, sings along to the radio in the car, throws her food on the floor at dinnertime, runs up and gives her daddy a big hug every day when he gets home.  She's just like every other 2 year old girl, she just has cystic fibrosis.  

CF has brought people into our lives that we otherwise would have never known.  It has made us appreciate things that we otherwise would have taken for granted.  It is part of our life now, whether we wanted it or not.  And we are okay with that.

So if you have your baby and it isn't perfectly healthy, I'm here to tell you that you will figure it out.  It will be hard.  There will be times when you have no idea what you're doing...but you just figure it out.  And even though things didn't turn out like you planned, you will still love that baby with all of your heart.  That's what being a parent is all about.

Wednesday, December 17, 2014

Clinic 12/3/14

E's last clinic visit went well.  It's amazing how much she is used to going there now.  As soon as we go in, she knows what she is supposed to do.  We went in the room to do her vitals and before the nurse could say anything she said "can you check my ear?" (temperature), then "Okay, see how tall I am!"  When they asked her what was next she opened her mouth and said "Ahhh" to get her throat swabbed.  :)

She had just finished a 3-week round of antibiotics for a cough that wouldn't go away, so she was feeling great at her appointment.  

We talked a little about traveling with all of her medications and equipment.  We are going on a Disney Cruise soon and we will be flying to Florida and then staying on the ship for 7 days.  I knew I wouldn't be able to sterilize the nebulizer cups properly on the ship so they gave us several disposable nebulizers to take with us.  And the nurse coordinator wrote a letter for us to take to the airport listing all of her meds and equipment, so hopefully we won't have any trouble getting through security with all of this stuff!  It's hard enough traveling with three small children as it is!  If anyone has any good travel tips, I would love to hear them!

Sunday, September 7, 2014

Q&A With Med Students

E's doctor does a lecture about CF every year for a group of first year medical students.  He spends about an hour talking about the medical side of CF and then has a patient and family come in to talk about the personal side of it.  He asked if we would like to come and answer some questions about how CF has affected our lives, and of course we said yes!
I was very impressed with the questions they asked.  Here are a few of the ones that I remember:

How was she diagnosed with cystic fibrosis?
What types of treatments does she currently do on a daily basis?
What kinds of things do you do differently with her than you did with your other babies?
What type of breast feeding support did you receive after finding out she was not gaining weight?
Do her siblings understand what CF is?
Do people treat her differently since she has CF?
What kind of financial strain has it put on your family?
Has this affected your decision to have more children?
What do you think is the biggest misconception about CF?
How is the health of some of the other people you know with CF?
What are some of the experiences, good and bad, that you have had with doctors since she was born?
What is one thing you would tell a parent of a newly diagnosed baby?

For anyone who knows me, you know that sitting in the front of a large room and speaking to 168 people is completely out of my comfort zone!  I was shaky at first.  I rambled and lost my train of thought and said some strange things every now and then.  But luckily when it got awkward, E would do something cute and make them all laugh!
We were really happy to be able to share our story with some future doctors and hopefully give them a glimpse of what it is like to have a child with cystic fibrosis.
If you are interested in the answers to any of these questions, feel free to ask!

Clinic 09/03/14

E had her CF Clinic visit this past week and we were happy to receive only good news this time!  Her labs showed that her vitamin D level was back up to normal so we don't have to do the extra vitamin D supplement anymore.  She did gain a little weight, so that's good!  And we figured out how to get her to wear a mask while we were there.  We played "hide your nose" and it worked like a charm!

Swallowing Enzymes Whole

Learning how to take her "enzymes" has been an ongoing process.  First we opened up the capsules and poured the beads out onto a spoonful of applesauce.  Then I tried putting the whole capsule in a spoonful of applesauce.  Then a few months later I gave her the capsule and she put it into an applesauce pouch by herself.  After she had that down, we tried this method...


She has already mastered taking her small Zenpep 5000 pills so we moved on to bigger ones.  And now, she will pop a Zenpep 25 in her mouth and swallow it with a sip of water.  I am so amazed at how well she has done with this!  It took a lot of baby steps to get to this point but I am so proud of her and also very happy to be able to leave the house without applesauce now!

Thursday, June 26, 2014

Shoot For A Cure

Our last big fundraiser was a sporting clay tournament to benefit the Cystic Fibrosis Foundation.  
My mom really wanted to put this together and I think she did a great job!  We had 10 teams, a sponsored lunch, door prizes, and in the end raised about $2800 for the CFF!
That brings our total for the year to over $19,000! 
We are so very grateful to everyone who helped us raise money this year.

Wednesday, June 18, 2014

Clinic...And Sick Again

E had been feeling crummy for a few days and then woke up one morning with her eyes matted shut, nose running and a cough.  Luckily we were going to clinic the next day.  Dr. R checked her ears and said they both looked pretty bad so we went ahead and started a 21 day round of Augmentin.

Our clinic started requiring patients to wear masks during appointments when they go back and forth from room to room.  That didn't go well!  We took some extras home to play with so we could try to convince her that masks are fun to wear and hopefully next time she won't fight us as much!

She hasn't gained any weight since her last appointment.  I knew this would probably be the case because she has become a very picky eater and really only eats one meal a day.  As much as I want her to get her calories in, I also don't want to create a monster! In our house if you want to eat, you have to eat what is in front of you.  And if you throw it on the floor, the meal is over!  Sorry, kids!  I can't make 3 different lunches and dinners every day!

The doctor and dietitian said not to worry about it right now, though, because she has always had good weight gain before this.  We'll push through the toddler stage and she'll figure it out just like her big sisters did.  Hopefully sooner rather than later!

Update: I got the results of her throat cultures and it showed that she grew Staph aureus.  This is the same one that grew on her cultures a few times before, but it is nothing to worry about and we don't need to do anything differently.

Hopefully this antibiotic will make her feel better and we can get back to enjoying our summer!

Wednesday, May 7, 2014

Great Strides 2014

This past weekend was our annual Great Strides walk to raise money for the Cystic Fibrosis Foundation.  Over the past few months we worked really hard to come up with creative ways to raise money.  The response to our t-shirt fundraiser was amazing!  We sold about 125 of them and then even reordered more for people who missed it the first time!  We sold hundreds of bracelets and have raised about $4000 from that alone!  
Our total amount raised as of today is $15,640!!
Emery's Angels Team Page
THANK YOU SO MUCH to everyone who donated and to all of those who helped raise money!

There were about 50 people that showed up to walk with us on Saturday!