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!