Wednesday, December 26, 2012

Coughs, Colds and Christmas

Last week my two oldest girls started coughing, throwing up, and running fevers.  They both ended up with ear infections and nasty sounding coughs.  I did my best to keep E away from them so that she wouldn't get sick.  I even sent her to spend a few days with her grandparents but she caught it anyway.  Luckily it was just a cold, not the stomach ache and fever.  We started another round of Cephalexin (Keflex) that she will be on for the next 3 weeks and we've increased her CPT.

Even with all of the sickness in our house we had a great Christmas!


Wednesday, December 12, 2012

Clinic 12/12/12

E has been feeling great since we left the hospital.  This past month she has received her flu shot and her first dose of Synagis.  We're doing everything we can to keep her from getting sick these next few months!

Today was her 6 month clinic appointment.  We talked to them about the possibility of malabsorption over the last few days and decided to increase her enzyme dose.  She will now take 20,000 lipase units of Zenpep (or two 10k capsules) before every meal.  They also increased her dose of Axid to 1 1/2 mL, 2x/day.  This should help her stay on track with her weight gain.
Right now she weighs a little over 16 lbs which is great!
The dietician gave us a list of higher calorie baby foods that we can give her and also suggested adding rice cereal to her fruits and vegetables for extra calories.

We did the Pea Pod and a blood draw for her research study and both of those went really well.  This was a much better lab experience than the last one!

Now her appointments will be spread out to every 2 months so we don't go back again until February.

Sunday, November 11, 2012

Home Sweet Home

We're home!!

Dr. R said that we could leave on Sunday instead of Monday if it would be easier for us so of course we said yes.  She is feeling great, no more coughing, and I think we all would like to sleep in our own beds again.  We made a Clinic appointment for mid December so I'm hoping we don't have any issues before then.

The doctor that discharged us today gave us very strict instructions about how to keep her healthy this winter.  She told us to wash our hands ALL THE TIME!  Keep her away from sick people (obviously).  And if someone in the house is sick they should probably go somewhere else for a few days, or send E somewhere else for a few days.  Not sure how that one is going to work out but we'll cross that bridge when we get there.  She also talked about all the holiday parties we will have coming up and said our best bet is to skip them altogether.  I'm a little confused because a few months ago they were telling us not to put her in a bubble, but this is sounding a little bubblish to me.  I guess a hospitalization at 5 months old will change things, though.

Anyway, we're home and so happy to go back to our normal routine.  Thank you to all of our friends and family who have helped us out over the last two weeks.  I don't know how we would have made it through all of this without you!

Wednesday, November 7, 2012

Don't Get Your Hopes Up

Why do people even say that?  Don't they know that the very next thing you will do is get your hopes up?  It's like saying "don't look down!"  Of course I'm going to look down!

On Monday they tested her Tobra trough level to make sure she didn't have too much of the medicine in her system.  High levels of Tobramycin can be toxic so it is important to monitor it closely.  Her level on Monday was 1.2 which is within the safe zone (under 2.0), but higher than Dr. R expected.  So he said we would test again on Wednesday.  He said that if the level is higher than 1.2 we would probably stop treatment and let her go home...but "don't get your hopes up!"

Now, obviously I don't want my baby to have toxic levels of antibiotic in her system but was there a small part of me that was hoping for a 1.3 so that we could finally get out of this place and go home?  Of course!  But when they checked it today her level was down to 0.8.  So.......we're still here if anyone needs us!

Tuesday, November 6, 2012

Butterflies

We went for a walk around the hospital this morning.  They have an area where you can look up at a bunch of giant colorful butterflies!

E thought they were so fun.  She was talking and talking and talking.  I'm not sure if she was talking to the butterflies or if she was talking to me, but either way I'm just glad she found something to get excited about.

We walked around some more...visited both of the gift shops...I bought a shirt and a diet coke.  I've decided they need more gift shops in this place.

Here are the butterflies from a different angle.
Yes.  I'm bored.

Monday, November 5, 2012

Things I've Learned So Far

1. Never Assume Anything - When we first got here, the nurse was asking me a bunch of questions and getting her medical history, list of medications, etc.  Then he asked if she had any chronic conditions...I was confused and assumed he meant anything OTHER than CF.  But luckily Ryan spoke up and mentioned the CF because he didn't know that part.  I learned pretty quickly that not everyone knows what's going on with her and I need to be very specific about everything!

2. Speak Up - This is along the same lines as not assuming things, but if something looks off or you think they missed something, don't be afraid to speak up.  There have been a few times when I've had to remind them to get the results of her labs before giving another dose of medicine.  

3. Get Out Every Once In Awhile - Two weeks is way too long to be stuck in a room.  Sometimes we'll go for a walk around the hospital or out to get some fresh air.  I think E likes the change of scenery.  If she was a little older we would need to get out a lot more but right now she's pretty content most of the time.

4. I'm Not Doing Her CPT Hard Enough - I really feel like I put a lot of muscle into it but after seeing them do her CPT here I'm pretty sure I could do better!

5. Nurses are Angels - I really believe it takes a special person to be a nurse.  We have had so many wonderful nurses this past week and they are always so sweet to E.  They have made this whole situation easier on us, making sure we have everything we need.  I'm pretty sure if I was at work for 12 hours a day I would not be in as good of a mood as they are!

Friday, November 2, 2012

Feeling Much Better

Every day is pretty much the same now.  We wake up to a shift change around 7am.  The new nurse comes in and gets the rundown on E's history.  Then Nana comes up and brings coffee and lets me shower while she plays with E.  Ceftazadime, Bactrim and Zantac around 9am...a breathing treatment and CPT...some tummy time or snuggle time...someone usually brings lunch...she naps...she eats...more meds...more respiratory therapy...dinner and then we go to bed and do it all over again the next day!  

All of the visitors have really helped break up the day and keep us sane!  A person could go crazy alone in this little room all day long for so many days in a row.

Daddy stayed with E last night so I could go home and spend some time with the other girls.  It was nice to have a day to hang out with them.  We slept in, went to the park, came up to visit their sister and ran some errands.  Then tomorrow he will get to spend some time with them doing one of their very  favorite things: watching college football.  

E has been doing really well.  I hardly hear her cough anymore and they say her lungs are sounding great.  They expected that by day 3 she would be feeling much better and it seems to have worked out that way.  Now we just hang out and pass the time while she finishes out her meds.  




Wednesday, October 31, 2012

Day Two

Dr. R came to see us today. He said E was looking good and reminded me that we would be here for a minimum of 14 days to finish out these antibiotics. He said she didnt need to wear the oxygen anymore and they took her off of IV fluids too.  I asked if her throat culture ever grew anything else and he said it didn't. Then I asked about the antibiotics and what exactly we are treating.  He told me that the only way to know what is going on in her lungs is to do a bronchoscopy, and it's not something we can do while she's on antibiotics because most likely it won't give an accurate result.

So the protocol for this type of situation is to go ahead and treat her for pseudomonas aeruginosa. Pseudomonas is the bacteria that causes the most problems for people with CF. Once they get it, it's hard to completely get rid of. So even though we don't know that's what it is, it's better to err on the side of caution and start those meds as soon as possible. The Bactrim is to treat Staph Aureus, which is something she has cultured a few times in the past and may be what is causing her cough as well.

Basically, we won't know anything new while we're here. We're hoping for her cough to be gone within two weeks and after that if she gets sick again soon we would look into doing the bronchoscopy.

I also mentioned that I didn't expect her to be hospitalized already at 5 months old and Dr R said he really didn't either. It's not something he sees all the time with infants but that doesn't necessarily mean this will keep happening a lot in the future.  We just have to wait and see.


Tuesday, October 30, 2012

First Day In The Hospital

I knew this was going to happen but I really wasn't expexting it so soon.  I was preparing myself for a hospital stay sometime before she turned 2...not at 5 months old! But I've read enough about CF to know that when she wasn't responding to any of the oral antibiotics, the next step would be a hospital stay. 

We came in this morning around 11:00 and got her into a room. After they got her hooked up to all the monitors, asked us a million questions, and had us sign some paperwork, the respiratory therapist came in to do a breathing treatment and some chest PT. E was not a fan of the breathing treatment at all! After she was finished with that, her oxygen level went down so they had to put a nasal cannula on her to give her oxygen. 

Then they took her to get a PICC line put in.  I know those things are painful to have put in and it has to be extremely scary when you're a baby and have no idea what is going on, but she took it like a champ! She cried of course, but not near as much as I thought she would. And at one point she was even smiling at the nurses. Sweet girl!

Next they did a chest X-ray to make sure the line was in the right place. Then awhile later we had to go do another chest X-ray for something else. Finally around 5:30, they hooked up her IV and started her antibiotics. The first one she got was Tobramycin which she will have once every 24 hours. A few hours later she got Bactrim (orally) and ceftazidime through IV. E was so exhausted after such an eventful day that she slept right through her respiratory therapy tonight!  

Through it all she has been her happy, smiley self! And apparently they are talking about her at the nurses station because every time a new nurse comes in they say they've heard about what a good baby she is! I'm so proud of my girl for being so brave today.  She's been through a lot but you would never know it by looking at her.

Caught her mid-cough...

...aaand now she's happy again!

Monday, October 29, 2012

Being Admitted Tomorrow

Her cough is still bad, she's wheezing quite a bit and breathing very rapidly so after talking with her CF team the decision is to admit her to the hospital for IV antibiotics.  They said to plan for a two week stay.  I'm sure I'll have lots of time to blog while we're stuck in the hospital so I'll keep everyone updated.

Sunday, October 28, 2012

Still Coughing

After a week on Cephalexin, Emery still wasn't getting better.  She's been coughing all day and all night and she's VERY congested.  On Wednesday I called the clinic and they told me to go ahead and bring her in.  They swabbed her nose and throat and said they would let me know what they find out.  I got an email saying that her viral cultures were negative and that after 48 hours her bacterial cultures had only grown "normal flora."  The bacterial culture wasn't final yet so we'll know more on Monday.  

Dr. R went ahead and switched her to a different antibiotic since the other one wasn't doing anything for her.  Now she is taking Bactrim.

So that's where we are for now.

My main question was "why are we giving antibiotics if there isn't anything showing up on her cultures?"

Here is the answer I got:
"One reason is that the culture was obtained as a throat swab and most of the time that gives an adequate representation of what is in the lungs (without having to be more invasive).  However, there may be times when what grows in the throat may not be the same as what grows in the lungs."

"The other thing is that the lung disease of CF is progressive so people with CF typically don't have the luxury of letting things just "run its course."  With each flare-up of the lung disease there is the possibility of permanent changes to the lungs so we need to be as proactive as we can in keeping people with CF well and treating aggressive early"

Sunday, October 21, 2012

It's Never "Just a Cold" With Her

Two weeks ago E started to get a cold.  Her big sisters had colds the week before and they were coughing a lot at night so I knew it was only a matter of time before she got it.  After a few days, E's coughing began. It wasn't anything I would worry about with any other baby, but with E the cough is our warning sign that a CF flare up could be coming.  If it doesn't go away in 5-7 days, that means it's not "just a cold."  On day 8 of her cough, I talked to the clinic nurse and she said that we'll need to start another round of antibiotics.  So she's back on Cephalexin for the next 3 weeks.

I'm starting to wonder if this will be the cycle we go through every month.

Luckily this time she doesn't seem to be bothered by it.  She's as happy as ever aside from the coughing.  I have no way to know how she really feels inside but I would like to think if it was bad she would let me know!

Sunday, October 7, 2012

How is She Doing?

When people ask me how E is doing I never know what to say.  I don't know if they're asking just a general question or if they're asking for CF specifics.  I don't want to offer up too much information and make it all awkward but then again I don't want to blow them off if they really want to know about what's going on.  So I usually just say "great" and move on to another subject.

I need to get better about this.  I have absolutely no problem with people asking questions about her Cystic Fibrosis.  I love when people genuinely care about what's going on in her life and want to be involved.  But I also don't want that to be the only thing people know about her.  She's so much more than a disease.  She's a sweet, curious, happy little girl that will light up a room with her smile!  She's perfect.


Wednesday, October 3, 2012

Normal Flora

I got an email saying that E's last throat culture only grew "normal flora."  Apparently that means there was no abnormal bacteria found.
Great news!

They also told me that the blood the lab was able to get last week was sent off for vitamin levels and those were all normal as well.

Thursday, September 27, 2012

Clinic 9/26/12


Between regular pediatrician visits and the CF Clinic appointments I feel like we're taking her to the doctor every week!  But I would rather be going in for check ups than to be going in because she's sick so I won't complain!

Everything looked good as far as her weight gain goes.  She weighed 13 lbs 12 oz today.  She's taking 6 oz bottles now and we're still adding an extra scoop of formula to increase the calories.  The dietician told us we can start giving her rice cereal now too if we want.

We're almost finished with the antibiotic and she seems to be feeling pretty well lately.  We talked about getting her a flu shot in November since she'll be over 6 months old and we also talked about getting Synagis shots to help keep her from getting RSV.  Dr. R said that while it is important for her to get the Synagis shots, it is even more important for her to be protected from the flu.  I didn't realize how bad it would be if she got the flu but apparently it isn't pretty.  I had already planned on being pretty cautious this winter and making sure she isn't around anyone who is sick but this made me even more nervous!  I would love to keep her in a bubble and never leave the house but I know we can't do that.  So I guess we'll just make sure we all wash our hands 100 times a day and hopefully that will be enough to keep us healthy!

Now for the sad part...
She has to get annual lab work and a chest x-ray so they told us we were going to do that at this appointment.  We went down to the lab and laid her on the table next to SEVEN empty tubes that they were supposed to fill with blood. SEVEN!  Two different nurses and several half-successful attempts later we decided to call it quits and finish the lab work another time.  She was screaming the entire time and it felt like we were torturing her.  Ryan and I couldn't handle it anymore.  They got 5 out of the 7 so we have to try again next month...this momma is not looking forward to it!

Thursday, September 20, 2012

4 Months Old


Baby girl turned 4 months old this week.  She is changing so much and really starting to recognize people now.  Every time someone comes up and talks to her she gets so excited and has the biggest smile on her face!

She's figuring out what to do with her hands.  She'll look at them, put them in her mouth, look at them again, turn them back and forth...it's fun to watch her discover new things.  

She soothes herself and puts herself to sleep by sucking her thumb.  It's something she's done since the day she was born.  I tried and tried to get her to take a pacifier but she always went back to her thumb!
Whatever works...    

We spend all of our time together either at work, dropping her big sisters off at school, picking her big sisters up from school, going to the grocery store, running other errands, and she never complains.  She's always happy!

Her check up today was great!
Height: 24 3/4 in.
Weight: 13 lbs 3 oz

Monday, September 17, 2012

First Round of Antibiotics


Well her list of meds has officially become too much for me to keep track of in my head!  Time to get organized!

On 8/31 E started coughing in the mornings and a little throughout the day.  She also had a pretty stuffy nose so I waited it out for 7 days to see if it went away and when it didn't I called the Clinic to talk to the nurse about what we should do.  It wasn't only the cough I was worried about but I could tell she just wasn't feeling well.  She was arching her back and crying quite a bit which for E is not normal.  She never cries!  The nurse decided to increase her dose of antacid and to go ahead and start her on an antibiotic that she will take for 3 weeks.  The antibiotic will knock out any bacteria that is lingering around in her lungs while she's sick.

So now her daily medicines are:
Cephalexin (antibiotic) 3ml 3x/day
Nizatidine (antacid) 1ml 2x/day
AquADEK (vitamins) 1ml 1x/day
1 Zenpep 10k capsule with each bottle
Chest PT 20 min 2x/day

While she wasn't feeling well I carried her around in the sling quite a bit.  I didn't realize it before this but she hasn't been much of a snuggler.  Usually she just lays right down and goes to sleep or plays happily in her bouncer.  But while she was sick she was happiest when she was laying up against me.  I loved having her fall asleep in my arms!

She's been on the antibiotic for a week now and she seems to be feeling better. I think the antacid adjustment helped too.  She's back to her happy self again and getting lots of work done with mommy!


Sunday, September 9, 2012

Clinic 8/29/12


We met with E's CF team again this month.  She is doing great and growing like she should be, weighing 12 1/2 lbs now.  No changes on her enzymes or meds...still taking Axid twice a day and 1 Zenpep 10k capsule before meals.  Her last 3 throat swabs have grown staphylococcus aureus, which is one of the most common bacteria found in the lungs of CF patients.  It's not something that needs to be treated, though.  They do the throat swabs to check for pseudomonas aeruginosa because that is the one that causes the most problems.  Luckily we don't have to worry about that one yet!

We signed all of the consent forms for E to participate in a clinical trial called BONUS: Baby Observational & Nutritional Study.  It is a research study conducted by the Cystic Fibrosis Foundation where they look at factors that may contribute to poor growth in babies with CF.  Everything will be done at our regular clinic visits and it is pretty much the same stuff we normally do there anyway.  But instead of weighing her once, for example, they weigh her twice: once for her clinic records and then once for her research records.  Same with her height, pulse ox, throat swab, etc.  They also put her in this pea pod that gives a more accurate measurement of her body composition.  She was so cute in there just looking around and smiling at us through the glass!
When they first mentioned this research opportunity to us, Ryan and I were both very much in favor of doing whatever we could do to help.  I hope that the results of this study will help someone else's baby one day just like the results of other research studies have helped us keep E healthy so far.

Thursday, August 16, 2012

More Sweat Tests


After E was diagnosed with CF, Dr. R told us that siblings should always get tested as well.  We put it off for awhile because 1) they seem pretty healthy to us and 2) we've had our hands full lately just getting used to having 3 kids!  I finally found a day that would work where I could take them to the testing center at Children's and my mom could come help me out.

I made sure not to tell my oldest about it too early.  She tends to think too much and I knew if I told her about it she would ask too many questions and freak herself out!  So that morning when she asked me her usual "Mommy, what are we doing today?" I just said "Well, you know how E has Cystic Fibrosis?  We're going to get a test done to see if you have it too.  Then we're going to have lunch!"  
Sounded like a good plan to her!

The girls did so great.  They sat there like big girls and did everything the nurse asked them to do.  She used a machine to stimulate their sweat glands and then wrapped a piece of gauze on their arms that they had to keep on for 30 minutes.  



Two days later the pediatrician's office called to let us know that everything was fine and their results were normal!

Wednesday, July 25, 2012

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!

Friday, July 20, 2012

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. 

Monday, July 16, 2012

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!







Thursday, June 14, 2012

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).

Friday, June 8, 2012

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.

Monday, June 4, 2012

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.