Feature of the Week: Ashley Mead

"God grant me the serenity to accept the things I cannot change, to change the things I can, and the wisdom to know the difference."

Ashley was diagnosed with Cystic Fibrosis the day after she was born. She is a double delta F508 patient, one of the most common CF causing mutations.

She enjoys spending time with her 3 younger siblings and her 2 year old nephew. She loves to swim, hunt, and listen to music in her free time. Her siblings motivate her to stay healthy and strong despite her medical challenges. She maintains a positive attitude and strives to set an example of courage, faith, and strength for them to look up to.
One of Ashley's favorite memories was a hospitalization during the summer a few years back. Her friends were able to hang out (this was prior to the CFF's encouragement to stay away from others with the illness. Now, we are adamant about staying away from one another to avoid cross contamination) She describes this time as "one big slumber party." They made great memories and caused trouble for all of the nurses on the floor!


I asked Ashley what her advice would be to a newly diagnosed CF patient. She responded 
"No matter how dark it seems or how hard life gets just remember this too shall pass and there will be light at the end of the tunnel someday. Keep fighting!!!!"

621+1G->T

The only identifiable mutation that I have.

it is known as a splice mutation. A splice mutation inserts, deletes or changes the number of nucleotides. this type of mutation significantly disrupts CFTR protein production and results in little or no functional CFTR in the cell.


Characteristics of patient's with this mutation:

• 94% of patients with this mutation have pancreatic insufficiency (compared to the 87% of all other CF patients)
• pancreas does not produce enough enzymes, therefore the need for oral pancreatic enzymes is high
• average sweat chloride test: 102 (other mutations: 97, a non CF'er: less than 60 mEq/l)
•  a range of lung functions with FEV 1(%) varying from the low 20's -110

the information in this post was derived from www.cftr2.org

Glucose Tolerance Test

What to expect...Glucose Tolerance Test (refer to Cystic Fibrosis Related Diabetes (CFRD) )

The test is done in several stages, each one is important to ensure the accuracy of your results. You may be asked to fast for 8 hours (may vary depending on type of diabetes being tested, medical condition, and doctor's preference), during this time you should only water and avoid consuming any food. Even the smallest bite of an apple can throw off your body's natural blood sugar levels and lead to a false positive/negative. 

Upon your arrival, a certified staff member will take a sample of your blood to find your "baseline" sugar levels. They might prick your finger tip or draw blood from a vein. This sample is referred to as a fasting blood glucose level. 

Next, you'll be asked to drink a special glucose mix. Sometime (if you're lucky!) they'll give you a few options for flavors, orange, lemon lime, or grape are some of the flavors I've had. To be honest, they aren't that delicious. Think of it like a flat fanta or sprite! You'll have to wait an hour then they'll prick you or access your veins again. Sometimes it's best to ask for an IV so they can draw blood without pricking you 10,000 times. It's totally up to you and the nurse to determine if this is an option or if it's recommended. Your blood will be drawn at hours 1, 2, and 3!

Depending on your results, your doctor may request another test or refer you to a nutritionist.

sidenote: I would recommend bringing a good book, iPad, or something to keep you occupied while you wait! Also, during my last GTT, I felt so lightheaded from fasting that I was unable to drive home. Fortunately, I had a friend drive me to the appointment so I didn't have to worry about not being able to make it back safely. Plan a yummy lunch immediately after! Be sure to drink plenty of water. If you're dehydrated, your veins won't be as easy to access! Good luck! 

*this information is based solely off of my personal experiences* 

Great Strides 2014

Every year, I look forward to the Great Strides, a 5k fundraiser for the Cystic Fibrosis Foundation. Time after time, I am amazed and setback by the generosity of classmates, friends, and family as they support me in my fundraising goal and in running the course.

My personal fundraising goal was $200. I exceeded my goal by $325! Becca's Buddies as a team raised over $1,300!

Where does the money go?
90 cents of every dollar goes straight to the Cystic Fibrosis Foundation. These funds are used for researchers, labs, clinical trials, and the development of life saving medications. The CFF is not funded by the government, therefore all of the breakthrough developments we've had so far were funded by people just like those who donated to my team!

We couldn't have done it without you!

Thank you to the following people for their donations:

Rosalie Hamilton
Karen Beserra
Chad Larsen
David Miller
Teresa Murphrey
Patricia Nichols
Susan Sampson
Patricia Urzua
Shannon Geary
Melissa Sanders
Ron Heath
Chris Perez
Mai Salmeron
Cyndi Fischer
Kelly Zimmerman
Richard Stewart
Stacy McClanahan
Christina Shepherd
Ashley Furstonberg
Devin Robins
Christopher Geary
Robyn Foley
Shannon Tate
Jaclyn Cacciatore

June 2014: Featuring....Julia Marie!

 "Sometimes getting the wind knocked out of you is the only way to remind your lungs how much they like the taste of air." -Sarah Kay 

Julia Marie was diagnosed with Cystic Fibrosis early on, at 4 months old. Her mom noticed she was coughing a lot and catching colds easily. At one point, Julia turned purple and she was rushed to a private doctor. Her mother was told "Your baby is dying. She's not breathing." A sweat test was performed and confirmed positive results for CF. 

Julia's genetic mutations are ΔF508 and G542. 

She recalls her elementary school nurse opening up her enzymes and mixing them with applesauce before lunch. During this time, despite being so young, Julia began to recognize differences between her and other kids. 

When Julia isn't popping pills, taking inhalers, nebbing, or eating, she enjoys reading, writing, napping, watching TV, playing with her adorable dog, spending time with her family and baking! Right now, her health is one of her top priorities. Once she is able to, she will attend school to become a professional pastry chef. 

Her motivation comes from knowing how delicate life truly is. She knows that if she fails to care for herself, her time is limited. She looks forward to marrying her fiance and watching her nieces, nephew, and cousins grow up.

For Julia, the hardest part of having CF is not knowing when your health will decline. It can happen over an extended amount of time, or rapidly. That fact alone scares her, but she perseveres despite her fears. 

I asked Julia what advice would she give to someone who was recently diagnosed... she responded:

"Do your meds like you're supposed to. If you don't take care of yourself, then your body will just give up. It's up to you to fight CF. Don't let it win!"