Clinic 7/25/12

Today we went to E's 2nd Clinic visit.  At each visit we meet with her CF Team which is made up of two different nurses, a dietician, Dr. R (the Pediatric Pulmonologist), and a few others who are there to teach us about airway clearance and to go over the research study we are participating in.

Needless to say, these are long visits!  But it's great that we have so many people working together to make sure she stays healthy.

For the past week and a half, we have noticed some signs of malabsorption.  E has gone from having one dirty diaper a day to having 7 or 8 of them.  We answered several questions to see if we could figure out the root of the problem:

Were the enzymes expired?  No.

Had they been left in the heat?  No.

Are we using generic enzymes?  No.

Since it wasn't any of those, they decided to put her on an antacid to see if that helps.  Apparently the pancreas not only produces enzymes to help digest food, but it also produces bicarbonate which is a base that helps neutralize acid that travels from the stomach to the small intestine.  If her body is not producing enough bicarbonate, the stomach acid can break up the enzymes before they get to where they need to go.  So now she is taking Axid twice a day to see if that's what the problem is.

Even with all of that going on, she is still gaining weight.  She weighed 11 lbs today!  The dietician said she wants E to be gaining 23 grams/day and right now she's gaining an average of 15 grams/day so if we increase her calorie intake a little more she should be right where she is supposed to be.

The major thing we learned about today was chest physiotherapy, or CPT.  CPT is a method used to loosen the thick, sticky mucus in her lungs so it will be easier to cough out.  We learned how to use this little rubber mallet to do "percussion" on her chest, back and sides.  Basically we use our baby as a little drum for about 30 minutes twice a day!

So far she doesn't mind it but I'm sure we'll have our work cut out for us when she starts moving around more!

2 Months Old

Usually I talk about how time flies and about how my babies are growing up too fast!  And you would think I'd say that I can't believe she's already 2 months old...but that's not the case.  I feel like she's been here forever!  How is she ONLY 2 months old?  I guess it's because so much has happened in the last two months.  So many doctors visits and weight checks and medicine changes and hours of reading each night through the giant pile of CF information I was given. 

It's a good thing she's such an easy baby!  I never would have had time to read with the other two girls at this age!  It feels so strange having a baby that doesn't cry all the time.  I actually get to ENJOY having a newborn right now!  That's something I never thought would happen.  She's been sleeping 8 hours a night for weeks.  She only cries when she's hungry.  She smiles and "talks" to us all the time.  She's the happiest little baby I've ever known.

At her 2 month appointment with the pediatrician, she weighed 10 lbs 12 oz and was 22 1/2 in long. 

Color Me Rad

Several weeks ago, my sister told me about a 5k that some of her friends were planning on running called Color Me Rad.  Everyone wears white and then while you're running you get sprayed with color so you come out at the end looking like a bag of skittles!  She said they found out that the race helps raise money for the Cystic Fibrosis Foundation so we all decided to do it too!  I barely even mentioned it to anyone (I've been a little busy lately) but the word spread and we ended up having several other people sign up to run with us!  I can't even explain how much it means to me that all of these people came out to support a cause that means so much to us.  We have the best friends and family!

Pancreatic Enzymes

We had our first visit to the Cystic Fibrosis Clinic on the 6th of June.  They gave us a ton of information about CF and the types of treatments that E will eventually need. 

We also learned that she will need to take pancreatic enzyme replacements from now on.

Many people with CF have trouble gaining weight because the enzymes that are produced in their pancreas cannot make it to the small intestine where food is digested.  So we are giving her an enzyme replacement that she will take every time she eats.  Once she learns how to swallow a pill she can take it that way, but until then we have to break apart the capsule and pour the medicine out onto a spoonful of apple sauce.  

We are also giving her a daily multivitamin and adding salt to her bottles since people with CF lose a lot of salt when they sweat.

It's not a quick process, but we're getting the hang of it and as long as she gets to eat, she's happy!

Now that she has the enzymes she's gaining weight a lot better and when she turned 4 weeks old she was back up to weighing 9 lbs 8 oz. (her birth weight).

What is CF?

Google will absolutely terrify you, so I wouldn't suggest doing that!  The best source of information is the Cystic Fibrosis Foundation:

What is cystic fibrosis?

Cystic fibrosis is a life-threatening genetic disease that causes mucus to build up and clog some of the organs in the body, particularly the lungs and pancreas. 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 cystic fibrosis?

Cystic fibrosis is a genetic disease. This means that people inherit it from their parents through genes (or DNA), which also determine a lot of other characteristics including height, hair color and eye color. Genes, found in the nucleus of all the body's cells, control cell function by serving as the blueprint for the production of proteins.

To have cystic fibrosis, a person must inherit two copies of the defective CF gene—one copy from each parent. If both parents are carriers of the CF gene (i.e., they each have one copy of the defective gene, but do not have the disease themselves), their child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene.

How does CF affect the lungs?

Normally, the healthy CF gene makes a protein—known as CFTR (Cystic Fibrosis conductance Transmembrane Regulator)—that is found in the cells that line various organs, like the lungs and the pancreas. This protein controls the movement of electrically charged particles, like chloride and sodium (components of salt) in and out of these cells.

When the protein is defective, as in cystic fibrosis, the salt balance in the body is disturbed. Because there is too little salt and water on the outside of the cells, the thin layer of mucus that helps keep the lungs free of germs becomes very thick and difficult to move. And because it is so hard to cough out, this mucus clogs the airways and leads to infections that damage the lungs.

Is there a cure for cystic fibrosis?

Currently, there is no cure for cystic fibrosis. However, specialized medical care, aggressive drug treatments and therapies, along with proper CF nutrition, can lengthen and improve the quality of life for those with CF.

The best way for people with cystic fibrosis to fight their disease is to work with their medical caregivers at a CF Foundation-accredited care center. The care center partners with people who have CF to help keep them in the best health possible.Statistics

• About 1,000 new cases of cystic fibrosis are diagnosed each year.
• More than 70% of patients are diagnosed by age two.
• More than 45% of the CF patient population is age 18 or older.
• The predicted median age of survival for a person with CF is in the late 30s.

If there is one thing I've learned so far, it's that every single CF case is different.  There is no way to predict what will happen with E because there is no way to know when she will get sick, how she will respond to antibiotics or treatments, how well she will gain weight, etc.  We just don't know.  All we can do is our best and hope that will be enough to keep her healthy for as long as possible.

Something Unexpected

Every newborn baby in Oklahoma is given a blood test at the hospital after they are born.  The blood test is done to screen for several different diseases that would not otherwise be apparent at birth.  To us it was just another thing we had to do before we left the hospital...no big deal!  But then we got a letter in the mail saying that E's test for Cystic Fibrosis showed that she needed additional testing.  I hadn't received a letter like this for either of the other girls so I was a little concerned.  I asked around and checked the Internet and heard of several cases where someone was told they needed additional testing and things ended up being fine so I was hopeful that this was just a mistake and we would go in and find out that our baby was perfectly healthy.

When we went to her 2 week appointment at the pediatrician's office they said they had received the letter as well and they had already made us an appointment at Children's Hospital to get a sweat test done.  The nurse didn't offer up any additional information about E's screening and the doctor never even came in to see us so we weren't really sure what was going on.  They only do the sweat test on Mondays so we had to wait almost a week to get any answers.  On top of all that, we were going back in for weight checks every few days because E had lost over a pound after she left the hospital and hadn't gained much of it back.

I called and asked to talk to the doctor to see what suggestions he had about getting her weight up and to talk about her screening for CF.  He gave me a few ideas to get her weight up and then I asked if he had seen many patients screen for something like this.  He told me he didn't have any patients that had CF and he had only seen it in his residency.  He said that the sweat test will tell us more but if he was going by her newborn screening alone, he would say she probably has it.  That was hard to hear.  And for some reason I still held onto this tiny chance that maybe he was wrong and we would go on Monday and they would tell us everything was fine.

We went to Children's Hospital to have the sweat test done.  Afterwards they had us go up and meet with the genetic counselor and wait for the results.  The counselor was a very nice woman who talked to us about what CF is and how people get it.  After a few minutes we realized that she was talking to us as if she already knew the results.  When we asked her about that she said that E's newborn screen showed that she has two delta F508 gene mutations and that typically means the person has CF.  The sweat test was just a formality.  She kept talking after that but I don't really think I was listening anymore.  All I could do was stare at my sweet little baby and wonder what life was going to be like with this disease that we knew nothing about just a week before. 

At some point I decided to snap out of it and listen to the counselor again.  She told us that the life expectancy and quality of life for a person with CF today is much better than it was even 10 years ago.  While there's no cure for the disease, they have come a long way as far as treatments go and it really helps that they can catch it so early with the newborn screening.

After that was over and we got back to the car, I was happy to see that Ryan and I were on the same page about everything.  We were heartbroken when we heard the confirmation that she has CF, but now that we know, we're just ready to learn more about it and do what we have to do to keep her healthy.