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Ellis is ONE!

Hello Team Ellis Rose!

It has been way to long since I have updated Ellis' blog, and today could not be a better day to share with you how our Ellis is doing.

Today, Ellis is one year old! How time flies...

Looking back on this year, we have gone through so much with our daughter, and we would not change it for anything. Ellis has made our hearts so full with love and joy. She has opened the door to a CF community that is truly giving and has taken in our family with open arms. Ellis is pure love. Does it get any better than that?!

A year ago today, Ellis entered this world at 2:46PM at 6lbs 7ounces and 19 inches. She was perfect (and still is!). One week later, we found out Ellis had cystic fibrosis. At first, we were devastated. After letting the news set in, we were ready to educate ourselves and take on this fight. Little did we know how much cystic fibrosis would change our lives for the good. We have met so many wonderful people and have become extremely involved with the amazing foundation.

Now, a year later, Ellis received a great birthday gift from Vertex. This past week, they submitted a New Drug Application for VX-770, now named Kalydeco, to the FDA with hopes that it will be approved in six months! I never thought it would feel so amazing to have a name for this life changing drug, Kalydeco. This is a name that will change what it means to live with CF, and I am so excited to see what the future holds for Ellis!

I want to thank all of our family and friends for their endless support and love during this first year. Ellis continues to stay healthy and is on track for weight and height. We have so much to be thankful for and could not be more blessed to have such an amazing daughter!

Happy happy birthday sweet Ellis Rose!!!

Ellis and Her Pounds

Before I started Ellis' pounds the other day, she got a hold of them and had some fun. Gotta love her!

Untitled from Kristina Quesada on Vimeo.

Baby Gender Reveal Cake...1 Year Ago

June of last year, we found out Ellis was going to be joining our family. The video is a little long, but it is such a great moment...I had to share.

Untitled from Kristina Quesada on Vimeo.

Our Little Swimmer

It has been shown that regular swimming can assist in mucus clearance and improve ventilatory function in children with cystic fibrosis. For this reason, we want to get our Ellis swimming as soon as possible. Luckily, Ellis is already a water baby. Check out this video of her kicking away in my parent's pool!

Untitled from Kristina Quesada on Vimeo.

A Day at the CF Clinic

This Monday, we took Ellis to the CF Clinic to check up on her health. We go to clinic once a month. The visit lasts for about two hours, and we meet with a physical therapist, social worker, pharmacist, nutritionist, nurse, and pulmonologist (lung doctor).

With the physical therapist, we talk about how Ellis is doing with her daily "pounds" and will sometimes get replacement parts, as they can sometime deflate.

The social worker brings us up to date with informational resources about CF, and we also discuss insurance issues and programs available that provide medication benefits etc.

Our pharmacist then comes in to make sure that our prescriptions are being filled and will up any doses that need to be increased. At the same time, we meet with a nutritionist to discuss Ellis' diet and weight gain. It is important to keep Ellis at or above the 50th percentile in weight so she continues to remain healthy. It is also a sign that she is taking the right dose of enzymes with each feeding for her body to absorb nutrients. She is doing great! 17 pounds!

The nurse will then come in to take a cough swab from Ellis. It involves taking a long stick down the back of Ellis' throat, so we can test for any bacteria or infections that could be growing in her lungs (Ellis gets the gag reflex going with this test). It is important to keep up with this because, if an infection does come up in the culture, the doctor can treat it with the appropriate therapies immediately before things get worse.

Lastly, we visit with the doctor who happens to be at clinic that day (there are three), and he or she checks Ellis' lungs, nose and ears. We also usually discuss any drugs in the pipeline that may benefit Ellis.

As of this Monday, Ellis' lungs sound "beautiful and clear". That's what we like to hear! Go Ellis!

Flash Mob for Claire's Place Foundation

I thought this was such a great idea to raise awareness about CF and the Claire's Place Foundation! This foundation was created in honor of Claire, who is 13 and continues her tough battle with CF. Their mission is to heighten public awareness and improve the quality of life for the families CF affects by providing education, life skills, inspiration, and positive support.

Claire is up front in the orange shirt. :) Fun!

Run, Pam, Run!

So, it's official! Pamela was chosen by the Boomer Esiason Foundation to run in the 2011 ING NYC Marathon on November 6th!

Pam will be running over 26 miles in Ellis' honor. If you would like to support Pam, please copy and paste the link below into your web browser.

www.firstgiving.com/fundraiser/pamelarappaport/2011ingnycmarathon

We will all be cheering her on! Go Pam!!!

Hope for the Future, All Thanks to Vertex!

Roe Van Epps is a 41 year old woman with cystic fibrosis. She was one of the lucky few who participated in the clinical trials for VX-770, a drug that directly corrects the G551D CFTR mutation. This is one of the same mutations that Ellis has. Below are a couple videos of Roe expressing her emotional and physical changes after she started taking VX-770.

In this first video, Roe is reading her thank you letter to the people at Vertex who made VX-770 possible.



In this next video, Roe shares the physical changes she experienced after she started taking VX-770.



Lastly, Roe talks about her future...



We all know that this drug is going to be a game changer for Ellis and all those with CF, but hearing Roe share her personal experience really hits home. The hope keeps getting stronger and stronger!!!

A Reason to Cheer for NYC Marathon Runner

I recently received an email from a friend of a friend, Pamela Rappaport. I wanted to share some of it with all of you.

I work at CBS Sports and work with one of our talent Boomer Esiason. He used to play for the Bengals and the Jets. He is a well known TV sports personality on CBS as well as has his own am NYC radio show and calls a lot of the Monday Night Football games. He has a son who is in college now with cystic Fibrosis. Boomer has a charity called BEF (Boomer Esiason Foundation) that I have gone to charity events for. It is a pretty big foundation with some pretty big names behind it. Boomer is really passionate about it because of his son. So. . .the reason I am sending you this is because for the past few years Boomer has sponsored runners to run in the NYC marathon through his foundation. A few of my friends from work did it last year and said it was the best experience ever for them. I decided yesterday that I am 100% going to run it. I am still waiting to hear back from Boomer that I am 100% in (which I should be) but I wanted to ask you if I could run in honor of Ellis? When Kara told me about you guys first finding out about her illness she was so heart broken over you feeling so sad. I look at your facebook a lot and see how positive you are for your family and it is really truly amazing.

Of course, I told Pamela we would LOVE to have her run in Ellis' honor. We feel so blessed to have so many people joining our family in this fight against CF. We will let you know when Pamela gets the OK from Boomer to run in the marathon, so we can all cheer her on!!! Go Pamela!

May is Cystic Fibrosis Awareness Month!

To highlight the growing need for awareness about cystic fibrosis, the CF Foundation recognizes the month of May as National Cystic Fibrosis Awareness Month. Our family recognizes the importance of raising awareness about this illness as we get closer and closer to finding a cure.

Consider these statistics, provided by the CFF:

Approximately 30,000 children and adults have CF in the United States.
More than 10 million Americans are symptomless carriers of the defective CF gene.
The disease occurs in one of every 3,500 live births of all Americans and about 1,000 new cases of cystic fibrosis are diagnosed each year.

Please help us raise awareness! You can do so by sharing our story with a friend or by posting the link to our blog on facebook. Thank you all for your support and helping us get the word out there!!!

Ellis Update

Today we went to Ellis' pediatrician for her six month check up. Yes, she will be six months on Monday...how time flies!!! Before any doctor's visit, Levi and I always find ourselves asking each other "Did we feed her enough?" or "Is she putting on enough weight?".

Weight is a major concern for those with cystic fibrosis. We do our best to regulate the amount of enzymes she takes with each feeding so she will absorb the most nutrients possible. Ellis now eats four times a day, and one of those feedings usually consists of a mere four ounces of formula, which had us thinking she may not be getting enough.

Well, we are doing something right because Ellis is weighing in just over 16 lbs putting her in the 58th percentile! The doctor told us to keep doing what we are doing. It is nice to be reassured that we are following our daughter's signals correctly and are giving her the nutrients and calories she needs to grow up as the healthy little girl she is. Mommy and daddy are proud of you monkey!!!

Chest Physical Therapy

Ellis receives Chest Physical Therapy (CPT), or what we call her "pounds", twice a day. It involves pounding her chest, upper back, sides, and lower back with a device (we use infants oxygen masks) to loosen the mucus from lungs. Her pounds last for 20 minutes, adding up to 40 minutes of therapy a day. Right now, this treatment is preventative. Ellis' lungs are clear at this time, and we want to keep any mucus build-up from occurring in her lungs.

Here is a short video demonstrating the CPT Ellis has been receiving since 2 weeks old.

65 Roses

A woman by the name of Mary G. Weiss became a volunteer for the Cystic Fibrosis Foundation in 1965, after learning that her three boys had CF. She was responsible for calling various organizations seeking financial support for cystic fibrosis research. Mary's 4-year-old son, Richard, listened to her calls and said, "I know what you are working for." Mary asked, "What am I working for, Richard?" He answered, "You are working for 65 Roses."

From that point on, the term "65 Roses" has been used by children of all ages to describe their disease. The rose, appropriately the ancient symbol of love, has become a symbol of the Cystic Fibrosis Foundation.

The irony in this is the fact that we gave Ellis the middle name of Rose without knowing that it was the symbol for the CFF and how it would be a part of our lives forever.

Newborn Screening

We found out that Ellis could have cystic fibrosis when they detected two gene mutations through a newborn screening. The newborn screening has only been around in Arizona for the past few years, and it was a very important part of detecting the CF early and starting treatments immediately.

Each newborn is screened with a blood spot screening that can detect 28 different disorders, one of which is cystic fibrosis. Approximately 300 newborns each year in Arizona have an inherited disorder that could be identified through screening. Newborn screening helps to identify those healthy looking babies before they develop the symptoms of the disorders, such as organ damage, developmental delay, etc. Doctors can then provide follow-up services to save lives and improve quality of life.

We are blessed to have these services provided to all children, and our family is grateful that we were able to start addressing Ellis' CF within the first few weeks of her life. This test is a game-changer.

CFF Infection Control Practices

As a CF parent, something I initially struggled with was telling people not to touch Ellis without washing their hands or using some hand sanitizer. When someone sees a baby, they immediately want to grabs those cheeks and hands, and you feel bad turning them down when you know they mean well. In a perfect world, it would be so much easier as a CF parent if everyone around your child practice good infection control. But since it is not, I can take action and choose to spread awareness.

I want to share the guidelines that the Cystic Fibrosis Foundation provides to practice infection control and minimize the spread of germs. Not only should we follow these steps around CFers, but they are great to put into action every day.

So, here they are:

1. Clean your hands frequently with soap and water or alcohol-based hand gel.

2. Use a tissue when coughing or sneezing, throw it away, then clean your hands.

3. Avoid touching your eyes, nose or mouth. Germs spread that way.

4. If you have a cold, you should keep at least 6 feet away from people with CF.

Pretty simple, right? Trust me, any CF parent would greatly appreciate you taking the initiative to follow these guidelines, keeping the health and safety of their child in mind.

One's Chance of Having CF

A lot of people have a hard time understanding how someone can be born with cystic fibrosis, i.e. born with two gene mutations that cause one to have CF. I will do my best to explain...

There are three categories people fall under: 1)You do not carry a gene mutation 2)You carry one gene mutation, "carrier" or 3)You carry two gene mutations and have cystic fibrosis.

Let's go through a couple of different scenarios:

If a couple is going to have a baby, and neither of them carry a gene mutation, their baby has a 0% chance of having cystic fibrosis.

If one person is a carrier of one gene mutation and the other is not, their baby has a 50% chance of becoming a carrier of one gene mutation and a 0% chance of having cystic fibrosis.

If both people are carriers, their baby has a 25% chance of getting cystic fibrosis, a 50% chance of being a carrier, and a 25% chance of neither being a carrier nor having CF.

So, in order for a child to get the disease, both parents have to carry a gene mutation. Levi is a carrier of the G551D mutation, and I am a carrier of the deltaF508 mutation. Somehow, along the way, these mutations have been passed down from generation to generation, sight unseen. By chance, Levi and I fell in love, had a baby, and we both just happened to be carriers, which Ellis inherited from us. Cystic fibrosis is labeled as a "European disease", and 1 in 30 Caucasians are carriers, but this does not rule out other ethnicity's. Levi is Hispanic/Italian/Irish, and I am Lebanese/Italian/German/Irish.

The take away here is, if you plan on starting a family, it is extremely important to get tested for the cystic fibrosis gene mutations, especially if there is any family history or if you are of Caucasian decent. CF can be avoided if you take the steps to rule it out. This is something that can skip many generations and appear in someone like Ellis.

Please let me know if you have any questions or need for clarification!

Great Strides 2011

On March 20th, Team Ellis Rose gathered at the U of A Mall in our team shirts and Ellis Island head gear to walk the 5k and celebrate our fundraising efforts for the Cystic Fibrosis Foundation. Our team raised $11,414.00 and still counting!!!

Here are some pictures from the event:

Why All The Fuss Over VX-770?!

The CF community received more great news today. Vertex has been working on several drugs that target the defective proteins that cause cystic fibrosis. An oral medicine called VX-770, geared towards the G551D mutation (which is one of Ellis' mutations!), has been in the trial phase, and Vertex released some of the amazing results. The VX-770 opens the gateway of the defective protein to allow the chloride to pass through the cell and prevent the build-up of mucus in the lungs, among other things.

In the study, 52 children (ages 6-11), with at least one copy of the G551D CFTR mutation, received VX-770 or the placebo as a single 150 mg tablet every 12 hours.

Preliminary Results

Lung Function: Results of the study showed that the difference in mean absolute improvement from baseline in lung function through 24 weeks in children treated with VX-770 was 12.5 percent. The difference in mean relative improvement from baseline was 17.4 percent compared to placebo.

Weight: Many people with CF have a hard time gaining and maintaining weight due to factors such as reduced pulmonary function, nutrition, chronic infection and inflammation. Those who received VX-770 experienced an average weight gain of approximately 8.1 lbs through 24 weeks compared to baseline while those in the placebo group gained approximately 3.9 lbs compared to baseline.

Sweat Chloride: People with CF typically have sweat chloride levels in excess of 60 mmol/L, while normal values are less than 40 mmol/L. Reduction in sweat chloride is considered to be a marker of improved CFTR function. In the study, the baseline sweat chloride level for both treatment groups was approximately 104 mmol/L (Ellis' sweat chloride levels are at 100). Through week 24, the mean sweat chloride level for individuals treated with VX-770 was below 60 mmol/L. Significant decreases in sweat chloride were not observed among those in the placebo group.

We expect to see more results in mid-July. I believe this drug will made available when Ellis is turning two years old. Keep up the good work Vertex!!!

What is Cystic Fibrosis?

According to the Cystic Fibrosis Foundation, cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). 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 and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.

People with CF can have a variety of symptoms, including:

very salty-tasting skin;
persistent coughing, at times with phlegm;
frequent lung infections;
wheezing or shortness of breath;
poor growth/weight gain in spite of a good appetite; and
frequent greasy, bulky stools or difficulty in bowel movements.

Those with CF are now able to identify which gene mutations they inherited. Ellis has the most common CF gene, deltaF508, and a less common gene found in only 4% of CF people, G551D. These gene mutations are ranked on a scale from 1-5, 1 being the most severe and 5 being the least. The deltaF508 is a level 2 mutation and G551D is a level 3 mutation.

Ellis takes enzymes every time she eats to help her absorb nutrients, since her pancreas is insufficient. We also give her 1/4 tsp. of salt each day since her body releases more salt than it should. Ellis also gets a multivitamin supplement each day. To prevent the build-up of mucus in her lungs, Ellis gets her chest percussions done twice a day for about 20 minutes each time to "pound" her lungs clear. The mucus can hold on to infectious bacterias, so it is important to do a lot of hand washing to stop the spread of germs and ensure that Ellis does not get sick. When those with CF do get sick, they stay sick for a longer period. If certain bacterias are detected in the lungs, it can lead to the need for hospitalization and intense treatments to take care of the problem.

So, these are the basics of CF. Each case is different, but I thought I would share a little bit about what our day to day dealings are with this illness and how we are proactive in preventing the progress of CF. Feel free to ask any questions, and I will do my best to answer them.