Wednesday, May 22, 2013

May is National CF Awareness Month: Fun Fact #5

I've added in a bit of history on CF. While this is an over simplification of the steps to discovery of Cystic Fibrosis I believe is represents a good idea of how far we've come with breaking down CF to its core in the last 75 years with the bulk of discovery happening in the late 1980's.

Cystic Fibrosis is often called Mucovicidosis, especially in other parts of the world. This refers to the thick sticky mucus produced by the exocrine glands of people with CF. 

Its been said that CF has been known for a long time. In northern European folklore there are stories of mothers licking their babies foreheads to see if they were salty; if they were that meant the child had a disease that we know today as Cystic Fibrosis.

No one person discovered Mucovicidosis  However, the name Cystic Fibrosis was established in 1938 by Dr. Dorothy Anderson, a pathologist in New York City. She described the changes in the pancreas as cystic or fluid-filled and fibrotic or scarred. Shortly after CF was recognized as a generalized disease in 1943.

Sometime in the 1940's scientists realized that the ductual system in the body were affected. In 1946, after following families with people that had the disease, it was confirmed that the disease was caused by an autosomal (any chromosome other than the sex chromosomes) recessive gene. In the 1980's it was discovered that the malfunction of the epithelial tissue (a sheet of cells that separates different compartments of the body) caused the organs to not work normally. 

Scientists started looking for the cause of this salty killer in the 1980's. With a lot of work and dedication scientists isolated the affected gene and found the mutation in the gene that caused the disease in the 1990's. Because the protein produced by the gene influenced chloride movement they named the protein cystic fibrosis transmember regulator (CFTR). In addition they found the DNA abnormality on the long arm of the chromosome 7, a deletion of three nucleotides that causes the gene to lack the amino acid phenylalanine at position 508.

Today, we know that the protein serves as a channel for chloride ions to enter and exit the cell. A faulty or damaged gene produces an incorrect protein that blocks the transport of the chloride ions; this is what causes the symptoms CF patients experience.

Most research is focused around correcting the cells ability to allow chloride ions to enter and exit. The drug Kalydeco which hit the market last year is targeting just that for a small population of CF community. Because Kalydeco has been so successful they are working on pairing it with another drug to hopefully treat those with the Delta F508 mutation which represents nearly 70% of all CF patients.


Wednesday, May 15, 2013

May is National CF Awareness Month: Fun Fact #4

CF is for the most an invisible disease. Unless you can physically see the scars from Port-A-Caths, G-tubes, etc. But even then you wouldn't be able to identify someone with CF. However, there are a few features that many CF patients end up acquiring. The most distinguishable features come from having lung disease. Finger clubbing and a barrel-chested appearance are two of the more common physical deformities that occur.

Finger and toe clubbing is yet another characteristic of chronic lung diseases like Cystic Fibrosis.

Its well documented that CF affects many parts of the such like the lungs and pancreas. CF also results in distinctive effects on the fingers of many CF patients in whats known as clubbing. 

Patients who have pulmonary diseases, including CF, commonly experience chronic lung infections, and have a higher risk of experiencing finger clubbing. Some develop a mild form of clubbing while others have very noticeable clubbing.

In addition, to finger clubbing a CF patient can develop a barrel-chested appearance. The barrel-chested appearance comes from the lung cavity being hyper-inflated. Because of the nature of CF with frequent lung infections the airways become enlarged or obstructed causing the barrel like appearance. The severity of the barrel-chest appearance varies from patient to patient. 

The barrel-chest appearance in patients with chronic lung disease forms over time. Generally, as the lung disease progresses and air becomes trapped causing patients begin to acquire the barrel-chested appearance.

It should be noted that not ALL CF patients have these deformities. I don't have any noticeable clubbing but I do have a slight barrel-chested appearance that is only noticeable without clothing. 


Tuesday, May 14, 2013

Mother's Day

CF awareness is briefly interrupted to recap Mother's Day.

Last year I wrote a somber post about how I was feeling about Mother's Day. This year I'm feeling different. Different in ways that I'm not yet ready to vocalize to the world but nonetheless I had a fabulous weekend visiting with my mom.

Since mom had to trek back to Bend (Central Oregon) on Sunday we had a family dinner on Saturday. It was a gorgeous day in the PacNW. So we took full advantage by dining outside.

My sister-in-law brought bubble guns for my niece and nephew to play with. Genius idea to keep the kids occupied while waiting for our meal.

I have a step sister whom B loves to pester.

But the dinner was really to celebrate my mom. To say thank you for all the sacrifices and to show her a good time with all of us!

A mom to a very sick child is hard work. Its emotional. She had no idea if I would live to see this phase of life. While she hoped she truly didn't know. So, I think for her mother's day is special, she still has both her children to enjoy life with. My brother made her an "ammy" (grandma), I will turn 31 next month, my brother and I are married and following our dreams. She did a pretty good job!

Love you mom!


Monday, May 6, 2013

May is National CF Awareness Month: Fun Fact #3

Cystic Fibrosis is an extremely expensive disease. It's hard to pinpoint exactly how much it costs to treat CF for a number of reasons, disease severity, insurance gaps, patient compliance, etc.

However, the median cost per year is $40,000 pre transplant. While approximately 95-99% of the CF population has access to some sort of healthcare coverage many have reported skipping medications or reducing usage in order to cut costs.

As reported by the CF Pharmacy my medication costs per month:

Azithromycin 500mg- $466.28

Humulin R- $53.16
Humulin N- $53.16
One Touch Test Strips- $123.60

Zenpep 20,000- $435.88

Proairt HFA Inhaler- $53.42

Cayston $6,786.02
Sodium Chloride 7%- $61.94
Pulmozyme- $2,657.41
TOBI- $8,012.17

Boost High Protein- $56.88

AquaADEKS softgels- $41.95

TOTAL per month: $18,801.87*

I am so thankful that I have insurance. Most the above referenced medications are a $40 co-pay, which for me puts my total at approximately $480* per month.

Currently I'm a recipient of Social Security Disability which pays for all my medications, co-pays, and other needs related to my healthcare. At the end of each month I have $108 leftover for food, gas, rent, clothes, etc.

It's no wonder why CF patients continue to live with family well into adulthood or in my case I have a spouse who busts his hump each day to provide.

CF care only gets more expensive with age and with the progression of the disease. I am in a good place. I'm healthy (for CF).

*This total does NOT include things like insulin needles, Lantus (insulin), additional vitamins, IV antibiotics, home health care, doctors appointments, feeding tube supplies, the VEST, hospitilazations, etc.


Friday, May 3, 2013

May is National CF Awareness Month: Fun Fact #2

I'm finding so much inspiration and motivation from my CF community this month, so much so I braved making a video for you!

To donate to this years Great Strides event:

To learn more about Orphan Diseases: 


Wednesday, May 1, 2013

May is National CF Awareness Month: Fun Fact #1

I'm gonna take a leap here and assume that the majority of my readers know the basic definition of Cystic Fibrosis. If not in an effort to not re-create the wheel check out the CF Foundations definition here.

I want this awareness month to teach you something or to dispel a previous assumption or belief about CF. I don't wanna just regurgitated what's already out there. Therefore, I do need your help. Please ask a question in the comments below and I will answer it. Or if you prefer to email your questions you may send it to illnessinspiredwords @ gmail dot com.

Fun Fact #1:

CF is not a lung disease!

Yep, it's true. CF is a complicated disease wherein the cells can't regulate or transport (or both) a proper balance of water and salt. The respiratory tract or lungs is only one of many organs or grouping of organs affected by the improper regulation.

CF has directly damaged my lungs, sinuses, liver, pancrease, digestive tract, and joints/bones. Each CF patient is affected differently. While some may experience severe issues with their pancrease others might not have any issue with their pancrease at all. However, nearly all CF patients do experience respiratory issues; some mildly and some extreme. With all patients, as the disease progresses so does the damage to the organs, in fact many patients at some point face needing an organ transplant.

Much of today's medical research for CF involves correcting the cells ability to transport/regulate the water and salt. While many drugs in the past have "treated" the side affects, the new drugs are being developed with the hopes of "treating" the cause. The drugs that are/have "treated" the side affects, have given us patients a much better quality of life and many of us are able to live longer. So, the idea that the drugs on the horizon can "treat" the cause is bringing so much hope to our community.

Many of you have supported the CF Foundation with monetary donations thru events like the Great Strides. You monies have been instrumental in developing these new drugs. They are life saving. They are bringing about better quality of life. They are allowing us to seek our dreams, hopes and wants. Thank You!

So, while many in the CF community refer to CF as a lung disease it truly is not. The lungs are a very large organ that does get irreversably damaged from the cells inability to transport/regulate water and salt. I do think CF got coined a "lung disease" because of just how much damage and treatment goes into treating the lungs or attempting to delay the damage in hopes of prolonging life.

Please send in your questions. No question is silly.

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