Thursday, December 29, 2011

Out with the old, in with the new

I don't think I properly expressed how excited I was about Drew's clean culture. This is the first culture he's ever had, EVER. He had his first culture in the NICU shortly after he was born and was already growing staph in his lungs. Since then we've had everything from staph to pseudomonas and everything in between. Just when we get rid of something, something new grows and it seems to be an endless cycle of antibiotics and doctors visits. But not this time. This time, we went two whole months without a call or visit to the doctor and the outcome was a culture free of any and all bacteria. There wasn't even some of the less harmful, more common bacteria in there. There was nothing. I know it doesn't mean there will be nothing forever, but for now, what a great feeling. And I mean we are smack in the middle of cold and flu season. If we can just make it to April bacteria free when the new CF drug will hopefully receive approval from the FDA and we can try it and it will hopefully work for us, we might never have to deal with bacteria in the lungs again. A new year is right around the corner and I'm hoping it means a world of change for us, in a good way of course.

Our Christmas was good. Naturally, we overdid it. The kids got tired of opening gifts about halfway through and just wanted to play with what they had opened. We ended up putting about a third of the gifts back into the closet to be pulled out here and there over the next couple weeks of winter while we're stuck inside. The hit of the holiday was a trampoline in the basement. It definitely helps them to work out their energy during the day and sleep well at night. And its in the comfort of our basement so I get to relax on the couch while they jump away.

Martin and I got out to dinner while my folks were in town. It was almost comical trying to figure out where to go when given the opportunity. I guess that shows just how little we get out these days. It was nice though!

Quatro is growing nicely. We have about 12 more weeks to go and preparations are underway. I'm hoping to transition Drew and Lily to beds by the beginning of Feb so that they have a couple of weeks to adjust before #4 gets here. Their new room is yet to be painted and we have some rearranging to do, as their new room use to be our guest/storage room. What we're learning is that we have way to much crap.

I'm gearing up to start our Great Strides fundraising for 2012. The past couple of months have been spent brainstorming, trying to find the best ways to raise the most money for CF. This is a huge year for the CF Foundation, with them operating in deficit due to all the funds they put into the development of these new drugs that just very well might change the world. I don't say that loosely either. These drugs truly might change the entire world of genetic diseases, not just Cystic Fibrosis. We can only wait and see right now, but I will do everything I can to try to help facilitate that change.

I wanted to thank everyone who reads this for your kind words and support that you've shown us over the past year and a half. We're really hoping that 2012 is a great year for us and for you as well!!

Friday, December 23, 2011

Great Early Christmas Gift

Everytime we go to the clinic, the swab his throat to get a culture of the bacteria that he may be growing in his airways. It is always an anxiety filled week waiting for the results, especially this time since the results were due back today, December 23, just two days before Christmas. Well I am happy to report that there is no staph and no other really bad bacteria currently causing trouble in his airways! His culture came back mostly clean, with a little staph which we always seem to have. He is already on an antibiotic for this sinus thing he has going on, which I believe will cover the staph, but nothing is causing any coughing or difficulty breathing so no other treatment is necessary! Such great news for our little man. We can celebrate Christmas without an IV antibiotic schedule :)

Wednesday, December 21, 2011

Making a difference

I don't know if I mentioned on here the family that I met several months ago in the NICU at Childrens who had a son born with renal failure. He was too small for a transplant or dialysis and so they were basically waiting for him to die. There was almost no chance that he would survive long enough to get a transplant, and a miracle was about all that was going to help him. Well that miracle came! I saw the family tonight and the little boys kidneys just started working. I don't know how or why, but they were elated and are hoping to be going home sometime in January. I've thought about them a lot over the past several months and I'm just so happy for them.

There were generally fewer people than normal there when I was there tonight. I think that's awesome, given that Christmas is just 4 days away. Most of the folks that I had known all went home on good terms, and I can only hope that the ones that I didn't know so well also left on a high note. We spent one Easter in the NICU and it was definitely a bummer holiday, so I can't imagine having to be in there for Christmas. But I know that the kids in there need to be in there and are getting the best care they can.

We heard some great news from the Cystic Fibrosis Foundation again today. I got the following email from one of the Public Policy Directors:
I’ve got some great news to share. As you may know, late last week Congress passed the final FY 2012 Appropriations bill - or “omnibus” - at long last completing the budget process for the current fiscal year. Thanks to your hard work, the CF Foundation has achieved three of our main policy priorities in the budget, no small feat considering what a contentious year this was on Capitol Hill.

1) As we told you a few weeks ago, funding for the Food and Drug Administration was increased by $49 million in the 2012 budget. This boost will help reviewers to more quickly move important treatments from the lab to the patients who need them.

2) I am happy to report that the National Institutes of Health (NIH) will receive a $300 million funding increase in Fiscal Year 2012, providing resources to advance innovative biomedical research for diseases like cystic fibrosis.

3) Congress established the National Center for Advancing Translational Sciences (NCATS) at NIH in the final FY 2012 budget, one of the Foundation’s biggest priorities. The Foundation has been a strong supporter of this center and believes it will have a real impact on the advancement of drugs for serious diseases.

These victories show just how profound an influence citizens like you have on their members of Congress. In no small part because of your tens of thousands of calls, emails, and meetings, the federal government will have the tools to help us move closer to the cures of tomorrow. There is no doubt that your persistence helped make this possible, and you should be proud of all that you do.

Thank you for being such an integral part of Team Public Policy in 2011, and we look forward to an even better 2012! Happy holidays to all of you and your families.
That really is all great news for CF. I wanted to thank everyone who participated with me in clicking on links I provided through my blog and contacting decision makers to let them know how important all of this stuff is to us. We can and did make a different and I know that I will certainly continue my efforts going forward knowing that!

Tuesday, December 20, 2011

Clinic Visit

We had a clinic visit yesterday. I felt like we hadn't been there in ages, when in reality it was just over two months. I hadn't had to call or make one visit there since our last appointment because Drew's health has been so good. It was pretty remarkable that he went that long without getting sick or having something happen that would at least merit a call to the clinic, but it happened.

The doctor thinks he looks and sounds great. The head cold that he's had for 3+ weeks now was diagnosed as a sinus problem. Apparently most people with CF end up with some degree of sinus disease. Just how a cold that gets into the lungs has a hard time getting out, so does a cold that sets up shop in the sinuses of a CF kid. What for Ella or Lily would have just run its course as a runny nose, for Drew turned into inflammation of the sinuses and extra mucus production creating an infection that he wasn't able to clear on his own. We ended up on a nasal steroid and some oral antibiotics for 14 days to get that cleared up. Very luckily, nothing had moved to his lungs at all and hope is that remains the case. They did do a throat swab to check for bacteria in his lungs, and we will have those results back by the end of the week. I asked what our course of action would be if he was growing pseudomonas or something again, and the doctor said that based on his awesome clinical appearance, nothing would need to be done until after Christmas. What a relief to not have to worry about squeezing in extra treatments over the holiday weekend!

I talked to the doctor also about the hunger strike that Drew is on. It was a damn miracle that the boy gained any weight between the last visit and this one because his diet consists of whole milk and an occasional corndog. He refuses almost everything, and yet somehow he continues to gain weight. Because weight is such a huge issue for many CF kids, it causes a lot of anxiety for me when he won't eat. I fear that he will end up with a g-tube feeding him overnight just to get in enough calories. Its not the end of the world if that happens as its the reality for many folks with CF, but with the good weight that he's always been able to show us, I would just hate for things to turn that direction. The doctor and the dietician both think that his weight is great and I shouldn't worry. He's in the 90th percentile and the goal for CF babies is to make it to the 50th. If he loses a couple of pounds we'd still be in good shape, but I just feel like if we allow this sort of behavior now that it could eventually turn into a problem. They recommended that we meet with a behavioral psychologist who specializes in eating issues in kids with CF. I spoke with her for a few minutes before setting up an appointment to come back, and she suggested that for kids his ages, its simply about control. They can't control much, but he knows hes got my attention with his mealtime antics, and she can offer some suggestions for making meals a better experience for all involved. We'll see what happens.

The other thing that Drew's doctor mentioned was the feedback that they had received on the presentation that was done on him at the NACFC. Here is the link to it - . She said that the presentation provoked a great deal of conversation, and that a group of doctors and researchers wanted to further expand on this presentation with more studies and research. How cool that Drew started a conversation about malacia and airway abnormalities in CF that could lead to more research on the disease?!

Finally, some more great news out of the CF world just posted today. Kalydeco, the drug that's currently going through the approval process in the FDA, is now available at participating clinical sites throughout the country for people with the G551D mutation who have highly limited lung function and may benefit from treatment. The drug that may just change the game for us as we too have a class three mutation (though not the specific one tested) is already being used to change the lives of people who are critically ill with CF. What a great Christmas gift for the people who will benefit from this drug!! Hopefully it works for them and will work for us when it becomes available soon.

Thursday, December 15, 2011

FDA Grants Six-Month Priority Review of Kalydeco (VX-770) — First Potential Drug to Target Underlying Cause of Cystic Fibrosis

Just a few days ago, I wrote a post about my annoyance with the FDA drug approval process when I heard that a "hangover pill" had made it through the pipeline while life saving medications like VX-770 sit in the queue. Today, my attitude toward them is changed. Today, Vertex Pharmaceuticals announced that the FDA has granted a six-month priority review for Kalydeco (vx-770)!!! The application for approval of the drug was made in October, which means that by April a decision will be made on the approval of this drug. By April, this drug could be available to us and begin correcting the problems that CF is causing at the cellular level. This is so incredible and awesome for so many reasons. We don't know if the drug will work for us, but we're going to give it a shot. If this drug works for Drew and he can get it before he has any progression of lung disease, his life expectancy will be the same as that of you or I. This drug will help his body to work normally, and prevent him from catching those life threatening lung infections that we deal with all to often. I'm so excited by this news and I hope that we can try it as soon as its approved...and that it works for us!!!
Here's the press release from the the Cystic Fibrosis Foundation:

FDA Grants Six-Month Priority Review of Kalydeco (VX-770) — First Potential Drug to Target Underlying Cause of Cystic Fibrosis

December 15, 2011

Vertex Pharmaceuticals, Inc., announced today that the U.S. Food and Drug Administration (FDA) has granted a request for a six-month priority review of a potential new CF therapy, Kalydeco™ (VX-770).

The company is seeking approval of the drug for people ages 6 and older with the G551D mutation of CF.

The expedited review sets a target date of April 18, 2012, for the FDA’s approval decision, four months earlier than the standard review time of 10 months.

If approved, Kalydeco (kuh-LYE-deh-koh) will be the first drug available that targets the underlying cause of CF. The FDA grants priority review for several reasons, including situations where a potential drug offers a major advance in treatment.

Kalydeco was discovered in a collaboration between Vertex and the Cystic Fibrosis Foundation, which provided substantial scientific, financial and clinical support throughout the development process.

Vertex’s application for approval of Kalydeco, submitted to the FDA in October 2011, included results from Phase 3 clinical trials of the drug in people ages 6 and older with the G551D mutation of CF. The results showed that those receiving the drug had remarkable and sustained improvements in lung function and other key symptoms of the disease, compared with those on the placebo.

Additional Resources

Tuesday, December 13, 2011

Hold on to your valuables!

Twelve days before Christmas and all through the house, everyone was grumpy and I had a sore back. I'm not about to break into poem here, just spreading some more holiday cheer. We are ready for a break, a change, something. I am so darn tired with being pregnant and chasing around three lively children all the time. Its way to cold to go outside, and I'm way to tired to try to get them all dressed and bundled to go anywhere. So we play with the same toys everyday. We watch lots of movies. We've tried to be festive with cookie baking and decorating. Our Elf on the Shelf has only been out since Saturday and we've already forgotten to move him...twice. He isn't having the affect that I would like him to be having. I need to make a secret trip to see Santa and give him the skinny on what my kids need to hear from him before I take them there for a visit.

Today I purged in the playroom. Three trashbags full of toys and toy parts and junk and garbage. I was so sick of our house being a constant mess of stuff that I eliminated things they don't play with, things that are missing critical parts, things that aren't toys (my tupperware bowls). I put puzzles back together with their appropriate pieces. The play food is with the play plate and play forks and knives. The trucks are in the truck bin. The guys are in the guy bin. For the first time in a long time there is a sense of organization and it feels good. I don't though. I am tired and I am sore. Its a trade-off I supposed. This was a good trade-off.

The basement has seen better days, but its the basement. We need to get it cleaned up before Christmas but I have, what, 12 days left to do that? No sweat. Yesterday we baked and decorated cookies all afternoon with some friends from school. It was really a fun afternoon. We're giving the preschool teachers some cookies and other little gifts that the girls made. It was a fun afternoon, but by about 7pm I was seriously beat. I laid down at about 9pm and slept until 8am. I wasn't doing any kind of extra hard work, but it seems that anything extra these days takes it out of me. Only 14 more weeks and for some reason in my delusional mind I think thinks will get better. Whats one more kid, right? At least I won't be pregnancy exhausted! Again, I acknowledge my delusional thinking.

I'm going to try to go through some Christmas presents to see what all we have and who we have it for. I think we're done shopping but I need to inventory. Its time for this Santa to get wrapping! Hope everyone is staying jolly jolly!

Sunday, December 11, 2011

Christmas Cheer

My kids are all in bed already, though none of them are asleep yet. I'm exhausted. I have a hundred and ten things I both need and want to get done in the next two weeks before Christmas and I have no clue when or how I'm going to accomplish most of them. I've been trying to keep in the holiday spirit, baking cookies with the kids, taking the whole gang to cut down a tree, decorating said tree as a family. Most of these events end in sheer disaster, with me pissed off and the kids all screaming and crying. Yet I push on. Tomorrow we are doing holiday crafts and baking cookies with a few of Ella's friends from school. I volunteered my house because the twins can sleep while we all work, though the thought of the mess that will be our house at the end of the day makes me want to cry. I'm so tired of cleaning, and I don't even really clean (I pay someone to do that for me, judge away). I'm tired of little people pulling out parts to 100 different toys and leaving them all over the house. I'm tired of never having all of the parts to any given toy or any game. I blame myself. They are still so young. That doesn't excuse them from picking up their toys, but lack or organizational skills leaves us with lots of pieces but no puzzle. I'm determined to clean out the playroom before Christmas. I want to put parts of toys together with their counterparts so that when someone gets out something to play they can enjoy the whole toy and [hopefully] not get frustrated by the missing parts and walk away. I'm just so darn tired! By 8:00 when everyone is in bed, I want to go to bed. I have been choosing bed over any of the other tasks I want to complete more often than not, and its showing in this house. Maybe its a bit of nesting setting in, but we are down to 14 weeks until this family of 5 becomes a family of 6 and we don't have anywhere to put Quatro. The guest room is becoming the twins new room and the baby will go into the nursery. That's the current plan. Only the guest room is currently our storage facility for all outgrown clothes and pretty much everything else in the house that doesn't have a home. We will have to find a new storage facility...within the house of course.

The one thing I have going for me is Drew's health. He still has the gunky nose I spoke of last week, but it has yet to hit his chest. Its been a real blessing not having to find time to talk to doctors and nurses and run into the office so they can check him out. I've spent more time at Children's Hospital in the past 3 months without him than have I have with him, and that's awesome. He has his next visit on the 19th and I hope that they're as happy with his health as I am. And of course I hope that we get a good culture report. It will suck if he's growing bacteria because he's been sounding so healthy. There is almost no cough anymore and his noisy breathing is essentially gone. The worst part about having a culture taken on the 19th is that we will get any bad results on the 23rd. I don't want to have to scramble the day before Christmas Eve to get him on whatever medication he might need. I don't want to have to have a schedule on Christmas weekend to administer antibiotics. I just want to have a stress-free, healthy holiday. Is that to much to ask?

I have to voice a complaint about one thing while I'm going. In the news this week, the FDA approved an over the counter drug that claims to cure a hangover. Perhaps a few years ago I would have thought that this was a great thing. However, when I see things like this in the news and think about how the drug that could save Drew's life is also at the FDA and just waiting in line for approval, it makes me furious that we are waiting behind drugs like these. I know that everyone has their cause and their issue that they're dealing with, but in my mind the system is seriously flawed when drugs that "cure a hangover" are placed in the same waiting line with drugs that "cure a genetic disease". I'm sorry, but people who take things to grow their eyelashes thicker or get Botox injections to "cure" a wrinkle have no clue what a real problem is. To spend hours every day doing breathing treatments to "hopefully" keep oneself from getting sick with irreversible lung damage or to take dozens of medications because your body doesn't produce the enzymes it needs to break down food, those are real problems. I wish the biggest problem we had was dealing with a self-induced hangover. So that's my beef. How can these things even be on the same playing field?! We need a new system because our system is currently broken. And i'll shout it from the rooftops, letting any and all decision makers know how I feel about it. One person can make a difference, and I'll prove it.

Finally, if you're in the market for Christmas movies this holiday season, consider buying them from any CVS, where $5 from every DVD sale will go to the Cystic Fibrosis Foundation.


Tuesday, December 6, 2011

Touring the CF Facilities at Cincinnati Childrens

Dr. Clancy is one of the top CF researchers in the country, and also a practicing pulmonologist at Cincinnati Children's CF Clinic. He's been a part some of the biggest new drug studies, including the one for the drug VX-770 which is currently at the FDA awaiting approval for use in patients. If you hadn't seen my post on huge this drug is to the CF world, click here. It essentially corrects the basic defect of CF in patients carrying a certain CF mutation. Its a remarkable medical breakthrough for the entire genetic disease community, not just CF.

So back to Dr. Clancy. He had arranged with the CF Foundation a tour of the Clinic and inpatient care facilities, as well as the CF research center. It was open to anyone - patients and families, large donors, people who were just interested in learning more about CF. Today was the tour and I had the honor of attending. It started with about an hour long chat with Dr. Clancy telling us all about the great stuff that's currently going on in the research world, including current studies going on and drugs that are coming down the pipeline. Never has anyone involved with any genetic disease ever been so close to finding the cure as the CF researchers are to curing Cystic Fibrosis. Dr. Clancy talked a lot about the different drugs that help any number of the 1800 different mutations. With so many different mutations, they are grouped into 6 classes based on their defect and how they affect the person. The drug that the FDA currently has, VX-770 or Kalydeco, was created and essentially corrects the problem called by 1 specific mutation called G551D. I asked Dr. Clancy today if that drug was designed to just help that specific mutation, or if it would be beneficial to anyone who had a mutation in the same class as the mutation that G551D falls into. He said that there has been some testing done recently on the other mutations within Class 3 (that's the class that G551D falls into) and the drug seemed to have the same positive affect on the other mutations tested. And one of Drew's mutation, R560T is a class 3 mutation! We won't know for sure until the drug is available to try it if it will help him. The tricky thing with CF is that with two mutations, both falling into different classes, its hard to say if fixing just one of them will correct your problem. In some people it certainly seems to, but in others they improve but not enough to be symptom free. The good news is that the drug that would correct Drew's other mutation, F508del, is in the works (VX809 - you can read about it by clicking on VX809 and then finding it in the pipeline (near the top) and clicking on the hyperlink). Hopefully within the next 3-5 years, this drug will also improve and make it to the FDA for approval and then use in patients. Taking these two drugs together have the potenial to "cure" CF for Drew and thousands of other people. Obviously I'm hoping that the 770 does the trick because that will be available, with any luck, in the next year. The longer we go without a cure, the more risk of irreversible lung damage we have. Of course we will take a cure whenever we can get one, but the sooner the better.

So the tour and the talk today were fabulous and left me feeling so good and hopeful. I could listen to Dr. Clancy talk for hours on end. If you ever get the chance to hear him speak I highly recommend taking it. He's a brilliant man who has his hand in so many different things, and yet he can still relate to you on a very easy to understand level. He's a really nice guy and I think he's a big part of the cure.

I know this post seemed to ramble on and on. I couldn't contain my excitement and now anticipation of the approval of this new drug. I know I am constantly harping on how important funding is, but without donations and support of our wonderful family and friends, these drugs wouldn't be what they are today. In this season of giving, the CF Foundation would so greatly appreciate your support through a donation. And so would I. We're going to find a cure for this disease and soon, I just know it!

Monday, December 5, 2011

A lingering junky nose

The lack of posting on here has been both due in part to a busy busy schedule and a lack of Cystic Fibrosis related issues going on in our life. For us to not have any health issues to discuss is pretty huge. Our next clinic visit is coming up on the 19th, and for the first time ever, we haven't had to call or visit the clinic for any health concerns since our last visit, over 2 months ago! That's HUGE!
I'm a little worried that they may have forgotten who we are, given that for the past 20 months I've spent a significant amount of time on the phone and in the office talking with a doctor or nurse or someone about something concerning to us on a weekly, if not sometimes daily, basis. I am happy though! I'm not sure if Drew is finally outgrowing the malacia and that's allowing him to clear his secretions better, or if the hypertonic saline that he now gets twice a day is really helping to replace that lost surface liquid and allowing him to function like someone without CF, or a combination of the two. All I know is that I'm please with the way things have been going and hope that they continue that way.
As I type this, Drew is screaming bloody murder at my feet because I won't let him play with his inhaler. There are certainly worse things in the world. He's had a funky nose for a couple of weeks now. He usually wakes up with it being all crusty, and then throughout the day its a combination of running down his face and crusted shut. The crazy thing is that it hasn't moved down to his chest at all. I'm a little concerned about the nose given the amount of time its been going on, but I try to think of him like the I do with the other ones, and if they just have a nose issue I'm not running them to the doctor. I'll let it go another couple of days before I call someone to see if we need to take action.
Tomorrow is the day I get to tour the CF Research facility at Cincinnati Childrens. I was supposed to go last week but the back injury prevented me from attending. Its 2 hours long, and even if they just tell me stuff I already know, I'm always interested in hearing the information they have. I'll definitely post about that shortly after it happens!
Here's to continued good health!