Thursday, October 23, 2014

Gene mutations

I just got off the phone with the genetic counselor from Clinic. I asked her yesterday if they could get a copy of Olivia's mutations from Ambry Genetics because we've always had a hard time finding info on her secondary mutation. We've always thought she had 3859 delc but it turns out she has 3659 delc. There are about 200 people with her combination of mutations and 97% of them have pancreatic insufficiency issues.  It makes no difference in Olivia's treatment, but is fascinating to know.

Wednesday, October 22, 2014

October Clinic

Olivia had her quarterly CF Clinic appointment today. She got the flu shot and wasn't thrilled. 

Here are her stats. July's numbers are in parentheses. 
-Weight is 45.9 lbs (44.7lbs)
-Height is 47 1/8 inches (46 7/8 inches)
-Height/weight ratio 27% (23%)
-O2 Sat 98% (96%)
-FEV1 108% (95%) before Albuterol 119% (102%) after Albuterol
-Sputum culture - Pending

We're still battling her weight but it went up 4%. Her lung function increased 15% so that's AWESOME!!  Her genetic counselor is checking with Ambry Genetics to see what her mutations are. We know she definitely has Delta F508, but her secondary one is a question. It would be amazing to find out that it's something they're currently testing treatment for. 

I'll let you know what we find out. 

Here are some pictures of the day. 

    Olivia chilling out. 
Hannah truly chilling out. 
Right after the flu shot. 
Olivia smiling because she thought my face was silly when I was imitating her. 
Both girls out cold on the drive home. I find it hilarious that both heads are dropping to the same side. 

Wednesday, August 20, 2014

Tough questions

 Normally when Olivia has clinic, she does what they ask and plays during the "in-betweens". She doesn't ask questions or even pay attention when the people come through. July's clinic was different. She was very attentive and inquisitive so after we got home Chris and I talked to Olivia about what everything meant. She seemed happy with what we told her and she didn't have any further questions. 

week and a half ago, Olivia asked how she got CF. It caught me COMPLETELY off guard so I proceeded to draw a Punnett Square and explain dominant and recessive genes. The whooshing sound of my explanation going over her head was almost audible. A few days later, she asked me again and I explained it in more understandable terms.

Last night, while we were doing treatment, she asked me "Mommy, how long am I gonna have CF? I'm sick of having it." I asked Chris to come up so we could all talk about it as a family. She was crying because she's sick of treatment and taking pills. We discussed drugs in the pipeline and told her we just have to stay as healthy as possible until they get here. She was upset that the medicines aren't available for her yet and doesn't want to wait anymore. We told her if we could take CF from her and put it in us, we would in a second. We all cried together. It was a hard thing to talk about. 

Tonight, we sat down and read her Mallory's 65 Roses to help her understand. It helped and she told us on each page the ways that she and Mallory are alike. 

I knew the day would come that she would start asking questions, but it has come sooner than I expected. 

Thursday, August 14, 2014

July Clinic

At the end of July, Olivia had clinic.  First, here are her stats (April's numbers will be in parentheses):

-Weight is 44.7 lbs (43.3 lbs)
-Height is 46 7/8 inches (46 inches)
-Height/weight ratio 23% (27%)
-O2 Sat 96% (98%)
-FEV1 95% (100%) before Albuterol 102% (103%) after Albuterol
-Sputum culture - NORMAL (YAHOO!!)

So her weight has been issue for a while.  It's not alarming because she is gaining and growing, but she needs to eat more to keep up with the amount of energy she is expending (which is A LOT!).  Her lung function has decreased some.  When listening to her they could hear popping and crackling.  She had a CT scan done in April which showed a lot of mucous and her lower left lobe looks blocked by a plug (which matches what they could hear with the stethoscope).  Her PFT showed improvement in the small airways again after receiving Albuterol.  They have been trying to decide over the last few clinics if she has asthma and they've finally concluded that she does.  We started an allergy inhaler, but I haven't really noticed a difference yet.  Her CT scan also showed minimal bronchiectasis.  It was the normal amount for a CF'er Olivia's age, but still upsetting to hear.  I want her to be the exceptional miracle case, but  I know this is the same for all CF parents.

We have a new genetic counselor, dietician and said goodbye to Mary Lester (Respiratory Therapist Extraordinaire).  She moved to California and we wish her well, but will miss her dearly.  So now it's basically like a whole new clinic (sigh).

Here are a few pictures I snapped that day...

Standard cutie picture

 Mary made Olivia's gown into an 80's dress.
 My girls snuggling after clinic.

Tuesday, May 27, 2014

Olivia's Outlaws Great Strides 2014

Another year of Great Strides has come and gone.  Thanks to the help of our awesome donors, we raised $5421!!! We had a wonderful day at James Island County Park.  Thank you so much to the Bryant's and the Wells for joining us on this very important day!!

Here is Olivia with Isabel, Caitlin and Ava.
 Everyone needs a balloon crown!
 See??  I told you.
 Olivia and Isabel
 Caitlin is WAY up high in the tree.
 Team Neal!
 Resting during one of the laps.
 Olivia posing next to a sign with a quote by Piper Beatty.  She's such an inspiration. 
 I won VIP parking!
 The kiddos (Carter, Ava, Isabel, Olivia and Caitlin - Nolan was elsewhere)

Go Olivia's Outlaws!!!

Wednesday, April 2, 2014

April CF Clinic

Olivia had clinic today. I have been dreading clinic because she's been sick so many times lately and I knew her weight was going to be an issue. So here are her numbers for this clinic-I'll put last clinic's numbers in parentheses so you see what the changes are. 

Height-46 inches (44.25 inches)
Weight-43.3 lbs (42.7 lbs)
Height/weight ratio-27% (53%)
O2 saturation-98% (99%)
PFT FEV1-103% (127%)

So you can see that she gained a smidge of weight, but grew quite a bit which killed her BMI. Her lung function decreased but she's been sick and dealing with allergies so we're not concerned (too much) at this point. But they did say she sounds a little lung gunky.  She also had a bunch of blood drawn to see what her vitamin levels look like. 

We have a chest CT scheduled for April 10 and she's meeting with an allergist in May. We're changing her allergy medicine regime and adding in hand CPT (chest percussion therapy) to help clear the mucous. Clinic wants to see her in 6 weeks to make sure she's going in the right direction.

I'm ready for a nap now!!

Here's Olivia and Hannah before heading out. 
Olivia waiting for the fun to begin. 
Olivia with the AWESOME Mary Lester (respiratory goddess). 
Olivia prepped with the cream to numb the blood draw site. 
Post blood draw. She was an super brave girl!!