Friday, November 4, 2011

Life Changing

Again, it has been far too long since I have posted. Life is good, but moving much too quickly. It’s hard to believe that November is already here – our first snowfall will probably get me back in tune with the season.

Over the last couple of weeks, absolutely fantastic news has been coming from both the Cystic Fibrosis Foundation and Vertex. Vertex is the drug company producing the drugs VX-770 (now known as Kalydeco) and VX-809…with the up and coming drug VX-661. Kalydeco is the drug that is aimed directly toward Gavin’s rare genetic mutation – only 3-4% of the general CF population has this mutation. I am going to try to explain what this drug is, what is does etc.

The genetic mutation G551d produces mutated cells, not allowing his body to regulate salt & water. This is what causes the build up of mucus that blocks the performance of major organs and also creates a breeding ground for bacteria in his lungs. Unlike the other 1500 mutations, these mutated cells create everything they need to function AND everything is right up against the cell wall wanting to function – but his cells do not have a channel that opens up allowing the cell to function. Kalydeco opens up that necessary channel – and approx. 15-20% of those cells need to function normally in order for his body to function normally. So in other words, with the cell now having an open channel – thanks to Kalydeco – his cells should begin to work like a “normal” cell. This is NOT A CURE. Similar to an inhaler controlling asthma or insulin controlling diabetes, Kalydeco will hopefully control Gavin’s specific form of Cystic Fibrosis. Gavin is NOT on the medication as of yet. It is currently in the hands of the FDA awaiting approval. There is a pediatric study (ages 2-5) happening next year, and we are hoping to get Gavin in on this study once they start enrollment.

The majority of CFers (98%) have the genetic mutation dF508 (most often both mutations are this form – Gavin has dF508 and G551d) which creates a mutated cell that also creates everything needed to function, BUT the components are “stuck” in the center of the cell AND there is not a channel allowing the cell to function. So, the contents need a drug to pull them to the cell wall (hoping that 809 and/or 661 can do this) AND they need a drug to create a channel. This is where the new hope of a combination of 809 AND 661 combined with Kalydeco will allow their cells to function. 809 alone has not been doing “enough” on its own to do all the necessary work – which is why scientists are attempting to tweak the drug and/or combine it with another to “work.”

Many genetic mutations resulting in CF create cells whose contents are also mutated – meaning that, it’s contents won’t/can’t even perform correctly with a working channel. This is why G551d is considered the most curable/controllable followed by dF508 -  at least those cells have the possibility of functioning correctly.

Something I learned fairly recently, as a carrier of a CF genetic mutation – only around HALF of my cells perform normally, and I obviously do not have any symptoms of the disease. Just proof that you don’t need 100% function to be “normal!”

Hopefully that made sense! We are obviously beyond excited to have all of this happening right now. As we speak, the National CFF conference is happening in Anaheim and there are four THOUSAND scientists there learning/teaching/expanding their horizons. As another CF mom said, I wish I could hug & kiss each one of them for taking their skills and putting them toward curing…or at least controlling…this disease.


On a different note – many people have been asking me lately what our chances are of having another baby with CF (no we’re not there yet!!) The chances are 25%. In order for someone to be born with Cystic Fibrosis, each parent has to “give” one mutated gene. Because each parent who is a carrier has one typical gene, and one mutated gene here is the break down.

BABY A) Good Gene from Dad AND Good Gene from Mom = NO CF (not even a carrier)
BABY B) Good Gene from Dad AND Bad Gene from Mom = CF carrier
BABY C) Bad Gene from Dad AND Good Gene from Mom = CF carrier
BABY D) Bad Gene from Dad AND Bad Gene from Mom = Cystic Fibrosis

  • 25% chance the baby does not have any mutated gene
  • 50% chance the baby is a carrier of the gene
  • 25% chance the baby has cystic fibrosis

Children born today are told (obviously) if they have Cystic Fibrosis but they are ALSO told if they are just a carrier of the disease. And not just for CF, but for thousands and thousands of diseases – and these results are from the newborn screening test where a small sample of blood is tested by the state shortly after birth. Because children are now told what they are carriers of – when they reach a point in their life when they want to have a child with someone, they can knowingly discuss whether or not they are carriers of the same disease and can discuss their “plan of action” BEFORE they conceive a child. Pretty amazing stuff!


Life here has been fairly typical lately (knock on wood). We have dived into potty training and Gavin was doing fantastic. But, a couple of weeks ago he was put on an antibiotic and those typically upset his tummy. So instead of dealing with all sorts of accidents, we put him back in diapers for the duration of the med. Tomorrow, we’re back to potty training – hopefully we can get back to just one accident, if any a day! He’s slightly scared of public toilets after one in a restaurant flushed while he was still on it – so hopefully we can get over that!

Somehow Halloween season came and quickly went. We had a ball picking out our pumpkins and playing around at the pumpkin patch,

sitting on pumpkinhugging applepulling wagon

but of course when it came to carving them Gavin wanted nothing to do with it - “too gross!” But would proudly show off “his” carved Mickey pumpkin to anyone at our house! We also thought that he made the most handsome Monkey ever :) And he was a pro at Trick or Treating! It’s so much more fun being the parents just watching their kid trick or treat versus bringing them to each and every door!


He is also very into sports of any kind…see below.

Sleeping who needs a blanky when you can sleep with a football?

We took him to several local high school football games this fall (one of Casey’s best friends is the coach) and we also took him to a Golden Gopher Hockey game with Grandpa and Grandma.

goph game 1goph game2

Whenever there is a game on tv he wants to know “what color do we want to win?” He still gets confused as to why the Gophers/Vikings/Wild etc. change the color of their uniforms due to the game being home or away, but he’s catching on! He also loves to yell at the refs alongside his daddy – one of his favorite sayings, “That was an awful call!!!” Apple doesn’t fall far from the tree.

We are hoping to get him his first pair of hockey skates in the next few days, we cannot wait to get him out on the ice. Crossing our fingers that he doesn’t decide it’s too scary!

Well, I really need to get my camera fixed because new quality pics (vs these from my phone) will motivate me to actually blog more often!


  1. In Gavin's defense, I'm also scared of public toilets! YUCK! Great writing, very informative for those that might have questions :)
    Let's Cure CF!

  2. Jen - you did a fantastic job of explaining how Kalydeco is going to work. Nice job momma!

  3. Thanks for sharing the info! Very interesting!

  4. I'm glad to hear that there is a brighter future hopefully coming your guys' way. And by the way, what an adorable monkey!

    p.s. you need to post more often, so get your camera fixed!

  5. Wow...that was some explanation! I am well versed in CF but stumble when it comes to the specifics of the mutations...It goes in one ear and comes out the other even after 7 years! When I think of how these drugs might change our childrens' lives, it just makes me ecstatic. I hope Gav gets in the study and awesome things happen! (I had no idea that as a carrier, only 1/2 of my cells work correctly? hmmm.i have no symptoms but my husband and carrier son have some mild ones!) good luck with potty training!

  6. Awesome news Jen - hope to hear more (good) news about this down the road.