Kalydeco

On January 31, 2012 there was a major announcement in the world of Cystic Fibrosis.  Nearly every news station had some report on this AP bulletin.  I thought I would take some time to explain this news.

Most likely you have seen or heard the recent announcement about the FDA approval of a new drug to treat Cystic Fibrosis called Kalydeco.  This drug is the first of its kind.  While it is NOT a cure, it does treat the underlying cause of Cystic Fibrosis.  Instead of treating symptoms, this drug can treat CF!  To break this down a bit further, there's a bit of biology involved.  Individuals with Cystic Fibrosis have either "missing or broken" CFTR (a protein in the body that regulates the flow of salt over the cell membranes).  As a result of the lack of CFTR, these individuals have high sweat chloride levels.  They also have thick and sticky mucus that clogs up many of the body's important systems.  The sweat chloride test is the ultimate diagnostic tool for Cystic Fibrosis.  Kalydeco is a drug that actually "fixes" the broken CFTR protein and has actually shown to reduce sweat chloride levels almost back to normal.  It is an amazing, fantastic drug!

One mom made a comparison that might help explain this a bit better.  This drug is like giving insulin to a diabetic.  While it does not cure the diabetes, it corrects the underlying problem.  This drug is our insulin--sort of.  You see, the underlying cause of Cystic Fibrosis (or the way the CFTR is broken or missing) varies from person to person based on their genetic mutations. There are currently over 1,900 known mutations.  Based on the body's reaction to the mutation, there are 6 classes of genetic mutations.  Currently, this drug is known to correct 1 mutation, not mutation class, but mutation.  That means that about 1,200 to 1,500 individuals will benefit from this drug.

Over the next few months, Kalydeco will be going into testing to see if it can have the same positive results for other mutations within the same class (which are the class 3 mutations).  While this is fantastic news, it does not directly benefit our family.  Finn's mutations are known to be more severe.  He has one class 2 mutation and one class 1 mutation.  (To see a bit more about his mutations, visit the corresponding page at the top of our blog.)  Currently in testing, Kalydeco is being used in conjunction with another trial drug to see if they can see improvements in Finn's class 2 mutation.  But those trials are still in earlier phases and it will still be several years before we see those results.

There are many mixed reactions out there to this news.  Of course, it is fantastic, but yet at the same time it evokes some jealousy and sadness that the good news is not for us.  What this does mean, though, is that the technology is there.  We can treat CF--not just the symptoms, the disease.  We just need time and money.  Right now, standing between us and a full, long life for Finn is time and money.  One mother wrote a fantastic post about her reaction to the news--it's a good read if you have time.  (In fact, this is one of my new favorite CF family blogs.  You should browse it sometime.  Her 85 year old grandmother has just been diagnosed with CF--yep, really, 85!  Told you it was worth reading.  As is this article about delayed CF.)  So, yes there are mixed emotions about this drug.  Hopefully, this is just the beginning of our family's miracle.

I share this with you as a way of spreading the information that we have.  Some of the news outlets have mistakenly interpreted this information to mean that there is a cure for CF.  There is NOT a cure!  And while this drug is revolutionary, it is only for a small portion of the CF population (3-4% is the current estimate).  That means that most of us are still waiting.  And while we wait, we will be fundraising and hoping that one day this news will be for us.  Know that the ongoing fundraising efforts by all in the community are very much real and very needed.  We can do this, but we need the money to keep on going.  We will be watching and waiting and when we get close to having that big breakthrough, I will let you know.  Until then, we will continue to fight!

A New Phase of LIfe

Nearly every morning when the boys wake up, we all pile onto our bed in the master bedroom and hug, cuddle, and talk.  If it's been a good night, Finn will be up before Kai and will end up in the bedroom slightly before his older brother.  Lately, Finn and I have taken to singing songs together, such as The Wheels on the Bus, Slippery Fish, etc., while we play on the bed.  Last week, Kai walked into the room in the middle of a verse and was upset.  (Kai has a tendency to wake up on the grumpy side!  :P)  He asked me to stop singing, but Finn and I were mid-song and having a good time, so I ignored him.  Kai raised his voice and yelled, "S-T-O-P!  Stop!!  I said stop!"  He repeated this several times.  I do believe we have entered the phase where my son is now spelling at me!  Yikes!  Reid and I are going to have to find some other secret form of communication real soon. (We do occasionally try the Spanish/Italian thing, but it needs some work.  Maybe I need to just learn Spanish.....)

A couple of Firsts

This past weekend Kai was invited to his very first friends' birthday party.  It was a ninja theme and they asked everyone to come in as much black as they could and bring a sword.  Kai spent most of the week looking forward to this party.  I think he had a really good time!

Also, yesterday was Kai's first school Valentine's party.  My sister-in-law loves making homemade Valentines and always has some fantastically creative things to hand out.  I thought I'd give it a go this year.  So, instead of store bought cards we made our very own Kai specific cards.  They turned out well, but they didn't stay together as well as I had hoped.  If I were to do something similar again, I would make a few design changes.  But I do have to say, Kai was the only one with homemade cards and I think that his were the most unique!

Holland

Welcome To Holland
by
Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

37 Days (Odds and Ends)

We are 37 days into 2012 and I have no idea how we got this far without my noticing it!  At the beginning of the year we decided to make some changes to the house.  We have spent 3 weekends rearranging the basement and we're just about there.  For some reason, the last 10% of the job always seems to take the longest.  We have successfully moved the toy room into the old TV room and the TV room into the toy room.  Moving the electronics took the longest, but we're done.  Finally!  Reid even worked it out so that the wiring is all inside the walls, even for the surround sound speakers.  It looks very nice.

Also in these 37 days, we have had many home repairs.  First, there was the gas dryer that went out.  Then my car battery.  Then we moved on to the dishwasher.  That, unfortunately, will have to be completely replaced.  A new dishwasher is coming on Wednesday (at least I'm hoping so!).  And now, our TIVO has broken.  I thought it was only supposed to come in 3's.  Please don't tell me we've started on a second set of 3!  At least to help offset the cost of these repairs, we have completed our taxes and are now just waiting for our refund. (Update:  Our TIVO isn't broken--yahoo!)

While today is day 37 of the year, it is also day 28 for Finn and his antibiotics.  Yahoo!  We made it to day 28.  I will be thrilled as I throw out that bottle tonight.  The first 14 days weren't bad, as he was on Bactrim and that doesn't seem to mess with his tummy.  These last 14 days have been on Omnicef, though, and that has torn his poor tummy to shreds.  After doubling his probiotics last week we were able to cut his dirty diapers from about 8 a day to 4, so that was better.  But still, I'm happy to be done!

This weekend we also received another large Colorado snow storm.  Actually, the weather stations were calling it a blizzard.  I was really nervous about the winds, but it wasn't as bad as they had expected.  To me it seemed like a normal large Colorado snow storm.  I can deal with that.  Reid worked from home for a few hours on Friday, but other than that the rest of us stayed in jammies all day.  I even let Kai watch a movie (he chose Peter Pan) which is something we don't do often.

Saturday we ventured out to play in the snow and for the second time in 5 winters here, Reid shoveled the driveway.  We talked about how we seem to be having a bit more large snow storms this winter, however it's still be a dry winter.  With storms like this, though, Reid might just have me sold on the idea of a snowblower. But will a snowblower help you build a snow cave like this?

Our Front Yard

I went to check the mail.  Somehow, there was actually mail in the box!

An example of all of the drifts that we had

Building the snow cave

The finished product

So cute!

Finally, we renewed our team for the Great Strides walk.  Last year we were just getting our feet wet, and I'll admit I'm not quite sure how it'll go this year.  But I do hope to do a bit more this year.  I've been working on a video for Finn and I'm planning on some cute Thank You cards for everyone who participates.  I'm also hoping to make some team shirts.  I actually feel really bad about not sending out Thank You cards last year.  I was just so new it never occurred to me.  But don't you worry, I'll make up for it.  The love and support of our friends means a lot to me and I hope you all never question that!

Of course, Valentine's day is coming up and I really want to make it special for the boys.  Kai and I planned out his class valentine's yesterday, so now I just need to plan out my things for the boys.  I'm glad I still have 8 days to plan.  I may be slow on the uptake, but I will figure this out by the time Kai is 18.  I will find ways to make life special for my boys.  I will put time and effort into planning events for them.  I may even actually get good at parties.  But I can't guarantee it!