Tell me about cystic fibrosis?

Question

My good friend recently gave birth to a gorgeous little boy, but they've discovered he has a very bad case of cystic fibrosis. Somebody told me that this means he won't live for very long. Can anyone tell me if that is true? They're being very positive and right now he seems like a healthy and happy baby. I feel that it's too sensitive a subject to question her about it directly.

I would really like to hear from anyone who has had personal experience with this, especially with CF in children.

Answer 1

Hi Emma!

My son was diagnosed as a newborn with CF through the newborn screening tests. He is now 11 months old. When he was a week old, we were told that his IRT levels were to high. The doctor told us not to worry, it happens frequently. Then, two weeks later, the second test came back even higher and we were sent for a sweat test. When that came back at 99, he had the diagnosis of CF.

I get frustrated with answers to these questions sometimes because people just pull info off websites and the problem is that they contradict each other! It's insane to see how many medical websites have completely different information- especially when it comes to lifespan! Anyhoo... I will do my best to tell you all I can. I have done bookoo reasearch, including technical scientific readings. And, of course with the help of the CF clinic staff at Children's (who are awesome!). I'm no expert, but I am telling you from first-hand experience.

The first thing I am frustrated with in your question is that the doctors told your friend that the baby has a "very severe case of CF." The reason that this frustrates me is because NO ONE can tell you how severe the disease or the symptoms are going to be for a specific person- and especially not when they are still a newborn!!! It's absolutely impossible to predict any kind of severity. There are literally thousands of mutations that cause CF. And even knowing the specific mutation can not foresee the severity of the individual's symptoms. You can put 100 people with the same mutation in the same room and they will have different symptoms, different illnesses, different bacterias, and different results. Yes, some will be similar but it's not black and white. My son is homozygous with the Delta F508 mutation, the most common mutation in CF. Homozygous means that he has two copies of the same mutation, one from myself and one from my husband. A child MUST inherit a copy of a mutation from each parent in order to have the disease. If they inherit only one, they are a carrier, they will NOT have the disease.

At 11 months, Aiden (my son), has had only one cold but he is pancreatic insufficient, a known result of the DF508 mutation. He takes a few different medications including pancreatic enzymes which digest his food for him, Pulmozyne, an inhaled nebulizer that thins the mucous and makes it easier to cough up, and liquid vitamins A,D,E and K. Since his pancreas does not work, the enzymes do the work of the digestive juices and enzymes, otherwise he would not digest and absorb the nutrients from the food that he eats. We also do something called CPT (chest physiotherapy) once a day to help break any mucous that is stuck loose from the walls of his lungs (again to help him cough it out and get rid of it). It's just a little blue rubber cup thing that we hit on his chest and back. Your friend will learn about that process, I'm sure.

As far as lifespan, I'll be completely honest here... CF is classified as a terminal disease because there is no cure and it is fatal. No one can tell you or her how long he will live. The Cystic Fibrosis Foundation just released an article stating that the life expectancy has raised to 35 years of age. Now, that may not sound like much, but, if you consider that 20 years ago, most children did not even reach their teens, it's pretty huge. Also consider that a child born TODAY will not see that lifespan. He will see longer. In 20 years, they have increased it significantly which means during the next 20 years of his life, they will either increase it more, or even better CURE IT! They are already working on gene therapy and have received positive results in animals... there are just a few challenges in finding an effective carrier to deliver the corrected gene to a human.

CF is a progressive disease, meaning that the lung damage and ultimately, death, does not happen overnight. And it will not happen next week, or next year. It takes time, years, to build the mucous layers and bacteria that eventually cause respiratory failure. There are a few strains of known bacteria that cause a decrease in lung function but that is not something she needs to worry about now. There are other bacterias that are not as severe and do not damage the lungs to the same extent such as staph (staphylococcus aureus) and influenzae... these are common in CF patients and if the child cultures these, he will go through a round of antibiotics and most likely kick them before they become a problem.

CF is a daily learning experience. With the new technology and research today, and the support of the CF team at her local Children's Hospital, it is a very managable disease. No, there's not a cure. Yet. But, please don't let yourself or her think that the child will not have every opportunity to lead a happy and healthy life. He will go to school, have friends, maybe a girlfiend or two :), and will work and have a family of his own. (As mentioned previously, it will be nearly impossible for him to have children of his own due to the blockage of the vas deferens in men, but adoption is a popular alternative).

As a mom, there are things you just have to be more careful of when you have a child with CF. Proper hand washing, protecting him from sick relatives and friends whenever possible, and making sure he's eating right and taking his medications to keep him at a healthy weight. Your friend will most likely feel a bit overwhelmed at first. Even past the initial emotional hit. It just might benefit her to talk with her and, depending on how close you are, maybe even go with her to an appointment. The more YOU know, the more you can support her and help her when she feels like there's too much on her plate.

And I know that the future for my son, and any other child with CF is unknown and full of challenges. There will be the occasional sickness, probably a hospital stay or two, and I know that his disease will not always be as easy to handle as it is today. But, all you can do is learn more and try to prepare yourself and your family to the best of your ability.

I want you to think about sharing this story with her... it really helped me when I got Aiden's diagnosis and was watching all the other mom's around me walking around with perfectly healthy babies... I felt kind of like I got cheated... until I read this:

"I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland."

by

Emily Perl Kingsley

I wish you the best of luck your in helping your friend deal with and come to terms with her son's diagnosis. And I wish only the best for that little boy. You know the funny thing? The kids tend to accept and deal with it a lot easier than the parents and other adults... says something, huh? Somehow they don't question IF they can do it, they just do. Kids are amazing.

Please, if you have any more questions, or even if your friend has any questions, feel free to email me. I have been in her shoes. I have felt her pain, her helplessness, and cried her tears. I will help out as much as I can.

Sending prayers your way!
Misty

Answer 2

The shortened lifespan prediction isn't true at all. It was true about 2 or 3 decades ago, but new treatments exist that can allow people with CF to live a long, healthy life. Most live well into their 40's and 50's these days. Cystic fibrosis is a genetic condition in which one of the body's cellular transporters is defective. The result is that mucus secretions are extremely thick and viscous, which can lead to respiratory and pancreatic problems. Additionally, most males with CF (over 90%) are sterile and unable to have children as a result of their condition.

The usual treatments for CF are life-long since no gene therapy currently exists to replace the defective cellular transporter. These therapies include physical therapy, such as beating on the person's back and chest, to loosen the phlegm within their lungs. Some people need to have this done multiple times per day - others need it done once or twice a week.

CF can be caused by a HUGE number of genetic variations - there were over 400 distinct variants of the disease when I first learned about it - each with its own prognosis and treatment regimen. Some are very severe, some are mild. Your friend's baby's physicians will be able to tell you more about the condition... it is a life-changing condition, but with commitment and hard work, their son will live a happy, healthy, long life.

Answer 3

Science and technology being what it is today, many folks live a long happy life with Cystic Fibrosis; natually a shorter life than someone without the disorder, but I have a friend w/ it and he is in his 30s. He has to go to the hospital fairly often, maybe a couple times a year or so, but he works, plays, dates, does almost everything anyone else would do. I have read that the average life span for someone w/ CF is mid 30s.

Answer 4

With proper care and treatment the longevity of a person with cystic fibrosis has increased over the years. It used to be that most people with CF died at an early age. Not at all unusual to live into the forties and fifties with todays advances in medical care.

Answer 5

Cystic fibrosis is a disease that causes the body to produce thick, sticky mucus. As the mucus builds up in the lungs, it blocks the airways and creates an environment in which bacteria can grow. As a result, patients experience chronic lung infections that cause cumulative (increasing over time) damage to the lungs.

The mucus also may block ducts in the pancreas, which prevents digestive enzymes made by the pancreas from reaching the small intestine. Without these enzymes, the body cannot fully absorb fats and proteins. This can lead to malnourishment and other symptoms. Cystic fibrosis also may create mineral imbalances in the body, affect the liver and result in infertility.

An abnormality in the gene known as cystic fibrosis transmembrane conductance regulator (CFTR) causes cystic fibrosis. When this gene is defective, it causes the body to produce the thick, sticky mucus and salty sweat characteristic of cystic fibrosis. Everyone inherits one copy of the CFTR gene from each parent. When both parents pass on an abnormal CFTR gene, the child will have cystic fibrosis.

Symptoms of cystic fibrosis vary from patient to patient. Many patients with mild forms of this illness do not experience symptoms until they reach adolescence or young adulthood. Once symptoms appear, they are usually related to the thick, sticky mucus that is characteristic of the disease. Even if the symptoms are initially mild, they usually get steadily worse over time.

Most children who have cystic fibrosis are diagnosed by the time they are 3 years old, although milder forms of the illness may not be diagnosed until the teen years. Various tests are performed to diagnose the disease, including a sweat test that looks for abnormally high concentrations of salt in perspiration.

There is no cure for cystic fibrosis. Treatments focus on improving the patient’s capacity to breathe and eliminating infections. Chest physical therapy (CPT) is commonly used to loosen mucus. In this therapy, patients are gently but firmly pounded on the chest and back to dislodge mucus from the lungs. Medications also may help alleviate infections and other symptoms.

Although patients cannot prevent cystic fibrosis, they can take several steps that may reduce symptoms or make them more manageable. Patients are encouraged to lead a healthy lifestyle, including eating a well-balanced diet, exercising regularly and avoiding smoking.

Cystic fibrosis often is fatal early in a patient’s life. Respiratory failure is the main cause of death in patients with this illness. Medical advances have increased the average lifespan of a person with cystic fibrosis to more than 35 years, according to the National Institutes of Health (NIH).

Answer 6

Cystic fibrosis is an inherited disorder. The underlying trouble is that a chloride receptor (a channel for the passage of part of the body's salts) is abnormal.

This results in thickening of secretions and problems in the lung, predominantly ... blockage of air passages and recurrent infections of the lung.

It can also affect the pancreas and the male urogenital tract. See the wiki page.

Answer 7

Yes, this is done through a procedure called amniocentesis. The amniotic fluid surrounding the fetus is obtained through inserting a needle into the mother's abdomen. The fluid is then tested for the cystic fibrosis genes.

Answer 8

My son was diagnosed when he was 7 months. It is all about prevention to me. We make sure he gets his meds and all his treatments as required. We have a wonderful Doctor, I would encourage your friend to check out www.cff.org and find a CF care center near her. As, many others have said the life expectancy is rising every year and is at 37 now.
Another good sight is www.esiason.org, they send out emails and reports, one was just out about Jerry Cahill who is 51 w/cf and another is about Scott Johnson who had a double lung transplant in 2001 and just did an Iron man.
It is amazing what the right treatments, medicines and exercise can do.