Tuesday, May 13, 2014

Uniquely You

Purple Hair
There is no one like you.  Your genetic make up is unique only to you.  Your human genome is an intricate map that is the infrastructure to who you are: encoded within DNA sequences, or "genes," in 23 base pairs of chromosomes.

An amazing person and CF pharmacist by the name of Stacy Peters so graciously agreed to submit a posting for my blog.  I am so honored to share her passion for CF with you.  She is one of the most unique and wonderful people in my life: thank you for writing! This post will be Part I of II great submissions sharing her knowledge about CF. Here is Part I:


"Cystic fibrosis is a genetic disorder that results in a dysfunctional protein called CFTR (cystic fibrosis transmembrane conductance regulator).  In people without CF, the CFTR protein works like a gate on the cell surface and regulates water and salt transport in cells lining the lungs, intestines, pancreas, etc.  In people with CF, this protein or “gate” does not work correctly.  When it isn’t working properly, changes such as thick mucus, pancreatic insufficiency, and various gastrointestinal issues occur.  However, not all people with CF are created equal; the type and degree of CFTR protein dysfunction varies depending on each person’s genetic mutations.  People with cystic fibrosis inherit 1 mutation from each parent, and you must have 2 mutations to have cystic fibrosis.  There are approximately 2000 different mutations of the CFTR gene.  Many have been classified into 5 different categories depending on what is wrong with the CFTR protein/gate. 

·       Class 1(protein formation defect):  The CFTR protein/gate is not made by the cell at all.
·       Class 2 (folding/trafficking defect – deltaF508):  The CFTR protein/gate is made, but it is stuck inside the cell instead of being on the cell surface where it needs to be to function.
·       Class 3 (gating defect):  The CFTR protein/gate is on the cell surface where it should be, but it doesn’t work.
·       Class 4 (narrow gate):  The CFTR protein/gate is on the cell surface but it’s too narrow so it doesn’t work as well as it should.
·       Class 5 (variable production):  The CFTR protein/gate is not made consistently but some active CFTR proteins make it to the cell surface so there is some function left.
·      Class 6 (rapid degradation):  The CFTR protein/gate is made and on the cell surface but breaks down too quickly.  (this class isn’t always included – some people lump it with class 5)

The CFTR gene is actually one of the longer genes  in the body, hence, it has more opportunity for errors to occur on it.  “It is estimated that about 2% of patients have large rearrangements, including deletions and duplications….”  Many gene alterations haven’t been “classified” yet."

My Mutations
What makes me, me?  My "special" defective CFTR genes are actually two different mutations.  One is a copy of the most common mutation: delta F5O8 and the other is... well very "unique."  My second mutation is rare and indecipherable, making it difficult to know what treatments are effective.  The make up of my genes and their uniqueness just makes it extra challenging to understand CF and its hold on my body. But with each advancement there is light and new hope for the future.

Uniquely Beautiful
You are one of a kind and so am I.  The very make up in which we exist makes us unique.  There is only one you, and it is beautifully unique.  Each of you makes the world so differently beautiful, and I am so thankful for your presence in my life.  A very special thank you to Stacy: I don't know what I would do without your knowledge, friendship, and drive to fight CF.  Love to you all.

Think of how your uniqueness makes the world so beautiful. 

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