Minnesota CF Education Day

On Saturday, Casey and I spent the day at the University of Minnesota getting our CF learn on :) I apologize that this post is going to be full of information and not the usual “can you believe Gavin said that” and silly pictures! But I know that many family members/friends follow our blog as their method of keeping up with CF news…so here we go…

It was a long day, jammed packed full of information – and while I left exhausted, I am so thrilled that we finally went and my goal is to go to it every year from here on out.

We began the day with a CF research update – and while I knew about a lot of it, some of the information was brand new and extremely interesting. While studying with pigs, the University scientists have discovered that on average, growth hormones are lower in CF patients. It has been debated if all of the growth delay is simply a loss of nutrition and the constant fight against infection that people with CF deal with every day, or if there is another role that CF plays in the deficiency. They have discovered (through the pigs) that the pituitary gland seems to have normal amounts of RNA (which instructs the body to make the growth hormones) but for some reason, the pituitary gland does not respond to stimulation the same way as a “typical” pituitary gland would. The connection between CF and growth hormones has a still complicated, and not yet understood, correlation but they are working on it! Especially because it is proven that bigger kids = bigger lungs = better overall health!

Gavin’s pulmonologist has been doing a ton of study on CF patients under the age of six. Until the age of six, its pretty impossible to get an accurate measurement of lung function. While our clinic does do infant PFTs those numbers are not as accurate as when you actually blow into a PFT machine – and kids generally cannot do that correctly until the age of six. What she has been studying in a chemical called “desmosine” which may correlate with the lung function of CF patients in the first two years of life. In other words – we may someday be able to determine lung function by measuring the amount of desmosine in a young patients sputum and/or urine without having to do any kind of lung functioning test. Awesome, awesome stuff! Gavin participated in this study – which makes it even more exciting!!!

One of the most interesting points for me, came at this beginning point of the day. The doctors mentioned that CF is being studied in many different areas of the University – including dentistry. Why you ask? Good question, and I was initially confused as well. BUT let me try to explain. A chemical called “agmatine” is found in a CF patients sputum (spit) and makes some bugs grow as a biofilm which makes them even more “tolerant” (resisting) of antibiotics even if that particular bacteria is not normally resistant to those antibiotics. And overtime these bacteria become more and more resistant to antibiotics which equals disaster for those with CF and constant lung infections. BUT, a dentist has discovered a peptide, found in our own sputum, that can actually kill the bacteria – yes, a product found by a dentist, in spit (not a created medicine) can possibly kill these otherwise resistant bacteria. Today (Monday) the scientists/doctors in the CF sector of the school are beginning to see if these peptides can “kill” bacterial pneumonia – this is a huge development in the CF world. So while each speaker was only given a small amount of time to speak – it was extremely interesting to learn that scientists all over the school (veterinarians, dentists etc) are working so hard to gain progress against this awful, awful disease.

Not surprisingly, my favorite part of the day was when one of the doctors began discussing the Vertex drugs. It was also an eye opener that Gavin is really in a small number of CF patients that have the G551d mutation (Just 3-4% of the 30,000 US population). I am constantly torn between this state of wanting to scream my excitement and containing myself with the realization that we’re not yet there for 90+ percent of the CF population. But, when a reputable doctor stood on a podium, in a room full of people dedicated in the fight against this disease, and told us that he was in awe – floored by – the results of VX-770 (Kalydeco)…I wanted to run on stage and give him a hug. Not only was lung function increasing by 10 percent in just TWO weeks, sodium chloride levels were dropping 50 levels into normal readings. Those of you have followed our story may remember Gavin getting a sweat test when he was a newborn. They place a chemical on the skin that causes the body to sweat in that small area and they then test the sodium chloride/salt in that sweat. A reading over 60 is a positive CF result, Gavin’s was over 100 (does not measure severity of the disease). Just think, if Gavin’s number dropped by FIFTY like the doctor mentioned, he would be in normal numbers. Un-be-liev-able. And when I spoke to this doctor during a break, he said that life for my two year old is going to be different. Those testing this drug have lived years with CF, and because of that they have irreparable lung damage – while someone like Gavin does not have any lung damage and is going to be starting with great, pink lungs. Instead of bringing back numbers the goal is going to be keeping lung function high, and to get his body working normally before the damage occurs. Proactive instead of reactive (my favorite saying when it comes to his CF care). I honestly could have spent the entire day talking about Vertex and nothing else…but the hour I did get was pretty amazing. We got to learn how they decided on the “right” dosage – how they discover what dosage is “too much” and how they structure the research categories…fascinating stuff and I am in awe of those who dedicate their lives to finding the necessary control, if not a cure, of this disease.

The news on 809 was also promising – a lot of what they are doing is trying to figure out what dosage of 809 works correctly with what dosage of 770. They are learning that a higher dosage of 770 is needed when combining the two meds to get the desired results with the Ddf508 mutations (vs a lower needed dosage for those with G551d and only 770 alone)…but those balances are all still being tested. So for those of you worried that 809 “isn’t working” please keep your hopes up. They are definitely still tinkering around with the mixes to get the results they need – they are on the right track. It’s not that it isn’t working, it’s that they are trying to figure out how much of the med is needed - and what balance between the two meds are needed - to get things working. Seriously, very close! I can definitely send more of the info I learned along to anyone curious about more on the 809 studies!

On a side note - more and more drug companies are coming on board with finding these correctors and potentiators (809 and 770 respectively) – sadly its because many of these companies are seeing the “dollar signs” that weren’t there before – but we’ll take all the help we can get now!

We learned more about nutrition – the importance of taking enzymes – the importance with staying in close contact with Gavin’s dietician to continue checking his BMI and keeping it matched up with his enzyme intake etc. We learned about the necessity to stay committed to treatments. The necessity to keep on track with visiting the CF clinic at least four times a year and getting PFTs at least twice a year for those who are able (older than 6). That yes, it can be a pain in the butt to “fit in” the time to get to clinic but that above all, HEALTH is the most important aspect of all.

Lunchtime was fun – I got to meet two other families with young CF children. We also sat at a table with a nurse who had performed Gavin’s sweat tests nearly 3 years ago. She remembered us AND remembered Gavin’s name without prompt. This is exactly why I call our team family. They care about us, remember us, and truly give a damn about our lives outside the CF world. Our team poured over our wedding album – which they had repeatedly asked for. And guess what – the only picture Gavin’s pulmonologist showed during her talks was of…yep, you guessed it…our one and only Gavin! And to be honest – a huge reason why a lot of the information we learned that day was a refresher is because his doctor is so amazing. Whenever we go in she thoroughly explains everything we’re doing, why we’re doing it – what we’ll do if it doesn’t work, and how to confront different circumstances in life. She has an amazing ability to explain things in terms we understand and there is something to be said when your two year old gets excited to see their doctor! But ok, enough gushing!

After lunch we got to see the one and only Josh Mogren perform. After two years of communication between computers and cell phones I finally got to meet the guy face to face. We also got to meet Moganko! He performed with a local a cappella group and they performed songs they created for CF kids about taking their medications/pills and keeping up with their help. I would love to tell you more – but what we got was a special preview – Josh has not released most of what we’ve heard yet…but once he does you know that I’ll share it there! He is definitely someone I cannot imagine living this CF life without – I cannot count the number of times he has been there with amazing advice, whether its about CF or just life in general. The guy is good stuff :)

We also got to hear from a panel of three adults living with Cystic Fibrosis. It was definitely a great opportunity to pick their brains, and to get a grasp of what Gavin will feel/experience as he ages. Some of it was heartbreaking, yes – but I think hearing them will make me a better parent. They expressed their feelings about being pushed to do treatments, to step back and let them live and how to face many situations – one of the best parts of the entire day. Definitely priceless material!

The last part of our day divided the group into discussions about adults or pediatrics. For obvious reasons we chose to listen to the talks about pediatrics :) Gavin’s pulmonologist lead a talk about many of the different medications/antiobiotics being used right now. I won’t get into details on most of them – but it was a nice refresher and great to hear why certain meds cannot be mixed and why some can. Also great to hear more about side affects to look out for. Overall just some great info!  A small part of the day was spent discussing networking between the parents – I couldn’t believe how many parents didn’t network at all. The team did not bring up CysticLife but I sure did! I honestly cannot imagine where I would be right now without the support of my CF family. They are the people I don’t have to explain myself to, they just ‘get it.’ No one but them truly understands our day to day life, and the emotions that come along with it.

All in all it was a long, but amazing day. Kudos to the CF team who gave up another weekend of their time to help out so many CF families – especially after many of them spent many days in Anaheim at the national conference. We seriously appreciate the extra steps they take in keeping us informed and well educated on the best CF care possible.

Oh, I cannot believe I almost forgot this. Guess what. Our clinic was ranked NUMBER ONE…yep, NUMBER ONE in the nation for FEV1 levels (lung function) in pediatrics ages 6-12. Amazing! We are so very, very, very blessed!

And before I leave you…

This month alone, I am aware of SEVEN individuals that have lost their fight against Cystic Fibrosis – one of them being only a few days old. Which is why I believe it is beyond important for every.single.CF parent/patient/significant other to attend some sort of educational conference to learn about this disease. When we learn, we can teach. When we teach we gain interest. When there is interest there are donations. When there are donations RESEARCH IS FUNDED and LIVES ARE EXTENDED. It begins with US. The parents. The patients. The caregivers. It is OUR responsibility to step in and learn about what is happening, what will happen, and what we can do to better the lives of those living with this disease every single day.

Clinic Visit Fall 2011

It was a very early morning for our family today – I try to get Gavin in for the first available appointments so I know we won’t spend a lot of time waiting and before the waiting area fills with kids.

After a few minutes of checking out the scenery (our clinic just moved to a brand new location & we’d only been there once before)

 

…watching cartoons on a submarine bench

…and playing with a oversized marble maze…

…we got to visit with Gavin’s medical team. And it was an outstanding visit! His weight is good, his height is good and his cuteness levels are off the charts. As long as things go well, we don’t have to go back until February when Gavin goes in for a big day of annual testing.

Gavin’s entire medical team is made up of women – but today he was thrown for a loop. While nearly his entire team joined us in our “room,” his pulmonologist arrived with a medical student - who is a…man! Gavin hid underneath a child sized table only peering out if his favorite “Dr. Dadunaaaaaaa!” asked him a question or needed to listen to his heart & lungs “wit her stefastope.” I just asked him if he would nicer to his doctor’s “helper” next time and I was told, “I think about it.”

He proudly told everyone that he wears “big boy underwears” and that he is asking Santa for video games and socks. Yep, socks. He also informed them that his favorite store is Lowes (thanks to the kid carts with steering wheels) and that when he turns three his cousin Grant will be four.

We got a little information on the latest Vertex news – but because the Minnesota CF Education day is this upcoming Saturday we’ll be getting a lot of information there. His pulmonologist did say, “this is very exciting stuff” so we’ll take that as a good omen for the news we’ll hear in a couple days. Our clinic is number one in the country (by 10%) for lung function in ages 6-12 – just another reminder why we make the 1.5 hour drive to the Twin Cities vs. seeing a doctor at Mayo Clinic just five minutes from our house. No drive is too far to get our child seen at one of the top three CF centers in the country.

The entire family got our flu shots while we were there – hopefully saving us some copays! While Gavin tweaked out about the shot, he did think it was pretty cool that all three of us received matching Snoopy stickers! And a note about tweaking out – Gavin’s least favorite part of the entire experience is getting weighed. He refuses to stand on the scale without me, but calmly listens to everything else he has to do…that kid…

After clinic I decided to follow the advice of several other CF mama friends – do something fun! So we made the quick trip to St. Paul to visit the Children’s Museum. When we left Gavin told me it was the best day ever :)

 

and it took just five minutes in the car for him to totally pass out.

I’m still having trouble believing that Thanksgiving is just a week away. Time is flying by much too quickly – and the lack of snow makes it difficult to relate to the holidays. We woke up to 15 degree weather – if it’s going to be that cold, can we please have some white stuff to play in (but after we get back from a road trip for Turkey Day Mother Nature – thanks!)

Fall Family Picture Fun

We are lucky to have an amazing photographer living across the street from us (double bonus – our boys are 1 day apart and best buddies). Once I took a look at some of the pictures she posted on facebook, I knew I needed her to take our family fall portraits! Thank you Allison, we love them!

I saved my favorites for Christmas cards and gifts but here are some of the highlights…

 

candids: love them, my little guy’s silly personality shines through

“Hold my hands and swingggggggg me!”

carefully watching for oncoming cars

gangsta?!?

Hilarious personality with this kid – love him & those dimples

do you see this devilish look…keeps us on our toes!

half our battle was keeping him still – boy loves to run

case in point…LOVES to run. CF you goin’ downnnn!

in love with my little family…

especially where a hunt for the perfect stick trumps the hunt for a perfect pic!

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.

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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!

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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,

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.

 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.

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!