About Cystic Fibrosis

What is Cystic Fibrosis?
Cystic Fibrosis is a disease that causes mucous in the body to become abnormally thick and sticky, affecting the lungs and digestive system.  It is a chronic genetic condition that worsens over time.  About 30,000 children and adults in the U.S. have cystic fibrosis, with around 1,000 new cases diagnosed each year.  Caucasians have higher rates of the disease than other ethnic groups - about 1 in 30 caucasians are carriers of a CF mutation - but the disease can occur in all races.

Some people refer to the disease as 65 Roses, since "cystic fibrosis" is sometimes hard for a child to pronounce.  Click here to read the story behind this nickname.

What is the life span of a person with CF?
The average life span of a person with CF is mid to late 30s, but a lot of people are living into their 40s and beyond, thanks to the numerous medical advances.

Is there a cure for CF?
No.  There are numerous medical advancements for the care of CF, and there are studies being conducted for new drugs that will help treat the root causes of the disease (not just the symptoms), but currently the disease remains incurable.

What are the symptoms of CF?
Some of the symptoms include:
- Salty tasting skin (people with CF shed a lot of salt)
- Persistent coughs
- Wheezing
- Frequent lung infections
- Poor weight gain and poor growth
- Frequent greasy, bulky stools or difficulty with bowel movements

How mild or severe these symptoms are varies between people with CF.

How do you get CF?
CF is a genetic condition that happens at the moment of conception.  To get the disease, both parents must carry a mutated copy of a CF gene, and pass both copies to the embryo.  Carriers do not have symptoms of CF.  If both parents carry a mutation, their child has a 25% chance of not having CF or carrying the gene, a 50% chance of passing on 1 mutation causing the child to be a carrier, and a 25% chance of passing on both mutations and having a child with CF.

So Judith has the disease, which means she carries 2 defective gene copies.  What mutations does she have?
We learned very early on that Judith enjoys being different from the "norm" with many things.  Her full genetic screen detected 1 mutation, with the other mutation being unknown/was not found.  This can happen in about 3% of patients with CF.

We do know that she carries delta F 508 (DF508), which is a common mutation (this is the mutation John carries).  Based off of genetic screening done before starting infertility treatments, we know that the other mutation has to be rare - when doing these panels, they only screen for the 30-something most common mutations, and my screen came back clear.  We plan to request further testing in another year or 2 to see if we can discover what the mutation is, and if that is inconclusive we will request further screens to try to pinpoint it.

How do you treat the disease?  What treatments is Judith currently undergoing?
Treatments vary from person to person, depending on the severity of their disease and what systems are affected.  Many people undergo daily Airway Clearance Therapy, either through manual Chest Physiotherapy (CPT) or with the assistance of a special vibrating vest.  Different medicines that could be used (but are not limited to) are:
- Mucous thinners (thins the mucous)
- Antibiotics, oral and inhaled (controls different bacteria)
- Anti-inflammatories (reduces inflammation)
- Bronchiodilators (helps open airways to ease breathing)
- Pancreatic enzymes (to aid in digestion of food for those who are pancreatic insufficient)

To see Judith's current treatment regime, click on the "Current CF Treatments" tab on my home page.

Source for information from the Cystic Fibrosis Foundation.  For more information, visit the Cystic Fibrosis Foundation website.

No comments:

Post a Comment