A lesson on CF

Our beautiful girl

 

As we are becoming more comfortable with Violet's CF diagnosis, it has been easier telling people about the disease and how it affects her.It has also become apparent how little most people know about it. I do not look down on anyone who has no idea what CF is, or even those who have the wrong info and I don't even consider it a bad thing. When we first found out we were dumbfounded, because like the average person we didn't know much, other then it is a chronic, deadly disease.

I wasn't even shocked when I told my family doctor and she admitted she knew nothing other then its a disease that affects the respiratory and GI systems. My OBGYN had even less info, asking if one of us ( me or Andy) had it to pass it to her. Why would she know anything, it is not her specialty. No harm no foul.

If someone told me their child was diagnosed with Turner Syndrome, or Huntington's Disease, I would have to admit I only have limited knowledge on the disorders (thanks to nursing school) They are even less common then CF, and since I know no one personally with either, it doesn't concern me. (Which is really sad to say) Recently I have taken an interest in learning more about genetic disorders. Now I can't say I've spent countless hours with my head in a book, but when I come across an article, or a blog or anything about one of the disorders it grabs my attention. If someone told you they or their child had Down Syndrome or Sickle Cell, you would probably know someone already with IT and/or know quite a bit about the disorder. I have to wonder why that is??

I got to thinking and (did what I was warned back on Day 1 not to do), I googled Cystic Fibrosis. A lot came up, and not all the info was consistent. Luckily there are good websites with reliable information ( as I've shared in the past) but I just thought I'd school you for a second. It's easy to pass on links to websites and such, but I feel like when the info is right in front of you, your more likely to peruse it. So here are some basics, not too much at once. I know nobody likes an info overload, so I'll just limit it to a few topics....

 

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/

(my official works cited, as to not be accused of any plagiarism)

Cystic fibrosis

Last reviewed: May 16, 2012.

Cystic fibrosis is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.

 

Causes, incidence, and risk factors

Cystic fibrosis (CF) is caused by a defective gene which causes the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food.
This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man's reproductive system.
Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.
Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.

Symptoms

Symptoms in newborns may include:

• Delayed growth
• Failure to gain weight normally during childhood
• No bowel movements in first 24 to 48 hours of life
• Salty-tasting skin

Symptoms related to bowel function may include:

• Belly pain from severe constipation
• Increased gas, bloating, or a belly that appears swollen (distended)
• Nausea and loss of appetite
• Stools that are pale or clay colored, foul smelling, have mucus, or that float
• Weight loss

Symptoms related to the lungs and sinuses may include:

• Coughing or increased mucus in the sinuses or lungs
• Fatigue
• Nasal congestion caused by nasal polyps
• Recurrent episodes of pneumonia. Symptoms in someone with cystic fibrosis include:
  • Fever
  • Increased coughing
  • Increased shortness of breath
  • Loss of appetite
  • More sputum
  
  
• Sinus pain or pressure caused by infection or polyps

Symptoms that may be noticed later in life:

• Infertility (in men)
• Repeated inflammation of the pancreas (pancreatitis)
• Respiratory symptoms

Luckily Violet has not yet experienced a lot of these symptoms....Hers are mostly the GI associated problems, so far. ( knock on wood) She definitely has the salty tasting skin, and poops quite often, along with a big belly and a ravenous appetite, but it wasn't always like that. She was born weighing a whole pound less then Ava did, and lost 8 ounces before we even left the hospital. At a month old she hadn't even gained a whole pound yet. She is starting to put on weight more steadily now at 13 months old and I'm looking forward to her next clinic visit to see how she's ranked for her height and weight now. ( Her head has always been in the 98th percentile )

Always wakes up a happy girl

 

Always hungry, even eating while in the Moby wrap