Hope for Tomorrow

A lot can happen in the course of a day, a week, a month, a year, or a lifetime.  I often think about the things my grandparents have seen change in their lifetime: electricity, cars, farming, indoor plumbing, the advancements in medicines and vaccines, and means of communication.

The advancements in CF treatments have made it possible for me to still be breathing.  There is so much hope for the future.  Each day is a new chance at a life saving breakthrough. 

Yesterday's blog post was Part I of II entries by pharmacist, Stacy Peters, again to whom I am so grateful.  She is constantly researching new therapies and is on the forefront of CF drug development.  In Part I, she discussed the defective protein in CF and its complex genetic challenges.

The Future and Hope for a Cure

In 2O12 a breakthrough oral medication called Kalydeco was released by the FDA.  This ground breaking new drug targets the underlying cause of CF for people with the mutation G551D: only about 4% of people with CF are eligible to reap the benefits of Kalydeco.  Even though I do not have the right mutation for this miracle drug, it gives us all huge hope in the fight against CF and the future. There will come a day when CF no longer steals anyone's breath. 

Here is Part II written by Stacy Peters:

"A new class of medications referred to as CFTR “modulators” has been in development for the last several years.  CFTR “modulators” work by:  1) increasing function of the CFTR protein at the cell surface (i.e. Kalydeco), 2) transporting the CFTR protein to the cell surface (i.e. lumacaftor or VX-661 – currently in clinical trials), or 3)  help the body “overlook” errors in the DNA that make the CFTR protein (ataluren – currently in clinical trials).  Unfortunately, since there are different reasons for why the CFTR protein/gate doesn’t work, there isn’t a “one size fits all” medication for everyone with CF.  While not a cure, the advantage with this class of medications as a whole is that they target the underlying defect in CF, whereas other treatments such as Pulmozyme® and TOBI® all target the aftermath such as the thick mucus and bacteria in the airways.

Kalydeco (Ivacaftor) is currently the only CFTR “modulator” approved, it works for people with a mutation called G551D and other class 3 mutations (only ~4% of those with CF).  Kalydeco works by activating the CFTR channel or “gate” and helps normalize water and salt transport.  Since it only works by activating the “gate” on the cell surface in a very specific way, it doesn’t work for those who have other classes of mutations. 

There are several other CFTR modulators in clinical trials.  Some are using 2 drugs to attempt correcting the CFTR protein.  For example, in people who have delta F508, the most common mutation, there are 3 new medications being studied.  Lumacaftor in combination with Kalydeco, VX-661 in combination with Kalydeco, and N6022 which is in very early development.  The lumacaftor or VX-661 works by moving the CFTR protein to the cell surface, then Kalydeco will come in and open the gate. 

Ataluren is also in clinical studies for those with class 1 mutations.  It works by causing the cell to “overlook” the error in the mutated CFTR gene, allowing for the CFTR protein to be made. 

The goal of the CF Foundation is to ensure there is a CFTR modulator for EVERY mutation.  This will be quite a challenge given the variety of mutations out there.    

While CFTR modulators are all the rage in CF research, there are other very important medications and treatment approaches being evaluated.

·       New inhaled antibiotics to help suppress bacteria such as pseudomonas and MRSA.

·       New anti-inflammatories targeting inflammation in the airways and body.

·       New delivery devices that decrease the time it takes to nebulize medications.

·       Evaluation of existing therapies to determine if there are ideal combinations and treatment durations to maximize the effectiveness of the current approved medications.

·       For more information visit:  http://www.cff.org/research/

·       For more info on gene classes: http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm

While there are no guarantees that medications in clinical trials will be proven effective, the rapid advance in technology and progression through clinical trials is promising."

New developments in treatments and the fight against CF are crucial, not only for the daily fight against CF, but for the discovery of a cure.  Treatments that have extended my life thus far are losing their effect: my CF is becoming resistant and less responsive to treatment.  The advancements in my lifetime alone have been truly amazing, and I cannot wait to see what the future holds.  Again, thank you to Stacy for sharing her amazing gifts making it possible for us all to breath.  I am so grateful to each of you who so passionately have fought and continue to fight to add tomorrows for everyone with CF.  I wouldn't be here without you.  Love to you all. 

What changes have you seen in your lifetime?

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:

CFTR

"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. 

Leave Your Mark

Pick a color.  Now, imagine everything your fingertips touch is left with a brightly colored fingerprint.  Think of all the things you touch during the day: doorknobs, your computer keys or tablet screen, your phone, books, a coffee mug, the hand of a friend, the steering wheel of your car, and so on.

You get the idea.  Imagine everything you've touched today covered with your colored fingerprint for the world to see.

What's my color? 

A frosty white, and I actually do leave a visible fingerprint on everything I touch. A person with CF has 3-5 times more salt in their sweat, so as a result we may have a type of salty frosting on our skin.  Parents often comment how their children taste salty when they kiss them.  I can feel and see the salt on the palms of my hands and fingertips, on the tip of my nose, my legs, and eyebrows.  I am like my own personal salt shaker.  Salt, anyone? Just kidding, that's disgusting. 

Because people with CF lose a large amount of salt through their sweat, they must strive to stay well hydrated and replenish low salt levels. 

What my glass usually looks like.

Why are you so salty?

Cystic Fibrosis disrupts the chloride balance within the epithelial cells that are found in the lining of the lungs, digestive tract, and sweat glands.  This means there is an imbalance of salt and water in my epithelial cells.

Salty White Fingerprints

What's a good thing about leaving salty white fingerprints on everything? I never lose my glass at a party.  Any type of glass, smooth, or reflective surface I touch is left with a frosty white fingerprint.  I often wonder what it would be like to touch something and not leave a mark.  I can clean my ipad or phone screen in the morning and by night it is covered with smudged, salty fingerprints. 

My Ipad - can you see the frosty white fingerprints?

Thank you to everyone who has left their unique and beautiful fingerprint on me! Love to you all.

Where are you leaving your mark?