Life Expectancy is Rising!

  In 1955 the majority of children with Cystic Fibrosis didn’t live long enough to attend grade school, making the average life expectancy just under five. In 2000 it was up to 32, and in 2008 it rose to 37.4 years.

Hearing things like this gives me hope for Jameson. Here’s an article that was on ABC.com about a man who is now 30 years old, when he was told he’d never make it to 18.

There are many things that contribute to the average life expectancy for those with Cystic Fibrosis, but I’ll walk you through a few of them:

1. Being diagnosed early on. Because awareness of the disease has increased, along with the depth of understanding, children are diagnosed early on and are then given the proper care and treatment to prolong their life.

2. Dedicated parents/caregivers. Every month my nephew goes up to Primary Children’s Hospital to meet with the doctor and see how he’s doing. when he was first diagnosed we were told he’d have to return at least once a year for a 2-week stay where he’s utimately be cleansed of his mucus, a sort of “spring cleaning” for his lungs. Since that inital 2-week stay he hasn’t had to return and be there for a two week stay because my sister has faithfully kept up with his medications and treatment. He takes enzymes before he eats ANYTHING, he also uses his vest twice a day for half an hour, while my sister holds a breathing apparatus up to his nose with different kinds of vaporized medications. But each time they go in to the doctors office he asks what they’re doing, because he looks great.

3. Regular exercise and a healthy diet. These things are important for everyone, but for those with Cystic Fibrosis it can mean an additional 5 years or so of life. By living an active life, they increase lung function, along with cardiovascular strength. Also, those with Cystic Fibrosis are predisposed to diabetes, and thus having a healthy diet can make a huge difference.

Fighting for a Cure

Fighting For a Cure was created by Jameson’s parents Joshua & Aubrey. Josh is a fighter pilot in the Air Force and flies the F16, which was their inspiration for the “Fighting for a Cure” golf tournament. They host a golf tournament on Hill Air Force Base, in Ogden UT, to raise money in hopes for a better future for their son and the many others suffering from CF. This year’s Golf Tournament will be held May 20th. To donate or play golf, please contact Aubrey at 801-815-5445 or go to cff.org Here’s some basic info that Aubrey likes to share with those who participate in the tournament, or donate their time and service.

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. As a special sidenote, I googled “famous people with Cystic Fibrosis.” There were only about seven people on that list. I didn’t recognize any names so I won’t post them, but you’re welcome to google it. What I found noteworthy was that it said that the list is so short because it wasn’t until the last few years that those with Cystic Fibrosis lived long enough to reach “stardom.” The only name I recognized on that list was Chopin. Although the mutation wasn’t discovered or the disease diagnosed, it is speculated that Chopin suffered from cystic fibrosis.

 

What now?

“I think it’s time,” he says. “Really?” she asks. Decided when you’re ready to have your first child is such an important decision. Because of the family history of Cystic Fibrosis she feels she should be screened when she goes to see her doctor about pre-natal vitamins. About a week later she gets a phone call telling her she is “positive” as a carrier for the Cystic Fibrosis deltaF508 mutation gene.

What does this mean? What do I do now?

I can only imagine the questions that would run through your mind as a mother knowing the potential harm that may come to your baby. Because cystic fibrosis is genetic, it requires both parents to carry the mutated gene. So if you’re a carrier and your spouse is too: there is a 25% chance that your baby will be healthy, not a carrier and not have cystic fibrosis; a 50% chance that your baby will be a carrier, but not have cystic fibrosis, and a 25% chance that your baby will have cystic fibrosis.

Because my nephew has cystic fibrosis, my sister knows that both her and her husband are carriers for the cystic fibrosis mutated gene and that any other children they have, will have those same chances. There are options, like invitro. However, that can cost over $15,000. Then again, medications, doctors visits, hospitalizations and everything else needed for a child with Cystic Fibrosis will be even more than that, unless you have incredible insurance.

It’s a big choice to make, and it is up to the parents to decide.

A Plug-in for Primary Children’s Hospital

Jameson was my first nephew. In a family made up of mostly women, we were all thrilled. He was a beautiful blue-eyed happy baby. I first saw him when he was three months old, and the next time I saw him, at my mom’s wedding, he was 7 months old. The first thing I noticed was that he looked exactly the same as when I saw him as a three month old. My sister knew something was wrong and had taken him to a children’s hospital in AZ where they lived when Jameson was born. The doctors told her that everything was fine and there was nothing wrong with him. Shortly after, they moved to TX, where she took him to the doctor again, knowing something was wrong. And again they told her everything was fine.

That Christmas Holiday my sister and her family came to my mom’s house. I remember walking into our guest room on New Year’s Eve, my nephew crying, my sister crying, rocking him back and forth talking to my mom. From the crack in the door I heard her say “Mom, I know something is wrong, the doctors think I’m crazy, but I KNOW something is wrong.” That next morning my mom, sister, and nephew drove up to Salt Lake to go to Primary Children’s Hospital. Within a couple of hours, Jameson was diagnosed with Cystic Fibrosis.

We were all worried because we had no idea what that meant in terms of his life ahead. At the same time, we were so relieved that they found what was wrong with him and could help him.

Every year we make donations to Primary Children’s Hospital. They are on the cutting edge of science, but more importantly, every staff member there LOVES children. They were so good with the kids, especially my neice Savannah who was also young, scared, and didn’t know why her baby brother was hooked up to tubes and machines. Periodically they’d come in and ask Savannah if she wanted to go see the fish in the tank, or ride in a wagon. They made a potentially horrible experience so much better.

“65 Roses”

Richard, 5; Arthur, 7; and Anthony 16 months

Shortly after my nephew was diagnosed with Cystic Fibrosis, I sat in his hospital room reading the binder of information the doctors had supplied my sister. In the front of the binder was this touching story. I still tear up whenever I read it. Here’s an excerpt from it:

Mary G. Weiss became a volunteer for the Cystic Fibrosis Foundation in 1965 after learning that her three little boys had CF. Her duty was to call every civic club, social and service organization seeking financial support for CF research. Mary’s 4-year-old son, Richard, listened closely to his mother as she made each call.

After several calls, Richard came into the room and told his Mom, “I know what you are working for.” Mary was dumbstruck because Richard did not know what she was doing, nor did he know that he had cystic fibrosis. With some trepidation, Mary asked, “What am I working for, Richard?” He answered, “You are working for 65 Roses.” Mary was speechless.

He could not see the tears running down Mary’s cheeks as she stammered, “Yes Richard, I’m working for 65 Roses.”

Since then, 65 Roses has been what a big majority of the children with cystic fibrosis call it because it’s much easier to say. The red rose has become a symbol for CF, and also the inspiration for my blog title.

A Promising Clinical Trial

Today an article was published in the New York times  about a new drug called VX-770. The article said:

“The caveat is that VX-770 is designed to counter one specific genetic mutation that accounts for about 4 percent of cases of cystic fibrosis. Vertex is working on another drug for the most common mutation, but that one is further behind in development.”

Although it accounts for a small percentage of the Cystic Fibrosis causing gene mutations, it’s very promising, and we’re on the right track. For more information on which mutations the VX-770 specifically helps you can read the drug information on the creator’s website. Although, the jargon is a bit over my head, from my understanding my nephew Jameson has the most common Cystic Fibrosis causing gene mutation, CFTRΔF508. This drug does not help this mutation because in some mutations, “CFTR proteins do not function normally at the cell surface. VX-770, known as a CFTR potentiator, aims to increase the function of defective CFTR proteins by increasing the gating activity, or ability to transport ions across the cell membrane, of CFTR at the cell surface. In people with the F508del mutation (like my nephew has), CFTR proteins do not reach the cell surface in normal amounts. VX-809, known as a CFTR corrector, aims to increase CFTR function by increasing the trafficking, or movement, of CFTR to the cell surface.”

To summarize, the drug won’t work for the F508 mutation, but they’re developing a drug to move the CFTR to the cell surface, so the VX-770 will work.

Jameson

This is my nephew Jameson, but we mostly call him Buddy. He loves to wrestle with his dad and uncles, Mario Kart on the Wii, Nerds and M & M candies, his best friend is his older sister, he loves playing “pretend” by being a dragon, and if you’re anywhere near him he’ll convince you with his big blue eyes to be his “baby dragon.”

The picture below is Jameson doing his treatment. He does this twice a day. The tubes you see hooked up to his vest pump air through the vest, quickly inflating it, causing it to vibrate, loosening the mucus from the lungs.