Tuesday, January 31, 2012

You don't know how it feels

Today was such a phenomenal day for the Cystic Fibrosis community. If you haven't seen my two prior blog posts, read this - http://www.cff.org/aboutCFFoundation/NewsEvents/1-31-FDA-Approves-Kalydeco.cfm

I know I've been bombarding people with invitations to participate in this fundraiser or donate to this or that or come to whatever event. I post a lot on Facebook about CF and our lives with CF and other peoples lives with CF and I know it gets old. Seriously, I acknowledge that it gets completely annoying. I know not everyone clicks on the links I post. I know that not everyone cares about CF as much as I do. Frankly, I know no one cares about CF as much as I do. But the news that came out today is why I do it all. The events that my friends and family and perfect strangers attend and donate to are the things that raised the money that made this drug possible. This drug might not cure Drew, but if it doesn't, the one that does is right around the corner.

I watched a video today about a number of folks talking about their lives with Cystic Fibrosis, and one mom put it best when she said, in tears, that she feels like she's tap dancing as fast as she can to save her sons life. Its like I can't do enough if it will save my baby. I have to over exert my self. I sign up to help at every event that I possibly can. I bug and annoy and bombard people with emails and links and invites, hoping that someone will read them and someone will care and someone will share them too and someone will donate to this cause.

You just can't possibly imagine how it feels unless you are the parent of a child with a fatal disease. You try to live this "normal" life, but it's so far from normal. You do your best to focus on the good and the positive, but in the back of your head you can't help but wonder if all that you're doing is going to be enough to save them. And you get looks from people when you take your kid, who coughs a lot and has a chronic runny nose, out in public. I've given those looks before - "Ugh, how can that mom bring her sick kid out. I don't want my kid to catch anything!". But you can't catch CF. But they don't know that. Sometimes I wanna embarrass them and make them regret judging me but telling them that what he has isn't a contagious runny nose, but rather a progressive and fatal genetic disease that he didn't catch at school, but rather was born with, and will die from. But what does that make me look like, making someone feel smaller and ashamed for judging. I want to educate. I want people to understand, but it goes right back to people just not caring like I care, and I have to be okay with that.

I appreciate my friends and family who want to learn. I appreciate them asking me how things are going and how I'm feeling, from time to time of course. Or just listening when I'm excited about this new drug or some other great news that we've received. Or bad news. I try to find the positive side of most of this. But sometimes I get discouraged when people just don't care or don't care to take the time to understand. I don't know if they're scared that I'm gonna fly off the handle (which I rarely do to anyone but my wonderful husband) or if I'm going to emotionally unload and they don't want to deal with that (again, all things considered I think I'm fairly stable). I know that when your kid gets a bump on the knee, it pains you to see them unhappy and in pain. I don't want to compare our illnesses or fortunes or misfortunes. I just want support.

When you are literally fighting for your kids life, your world is just different. I don't have a choice but to do everything I possibly can to win this fight. It gets disheartening when I am shot down or offered support that never comes through. And I can be mad a sulk about it for a few minutes before I have to pick my head up and get right back out there and keep on fighting. And even if we lose this battle someday, and God I hope we don't, every single second of it - every email sent, every dollar raised, everyone I annoyed and every friendship lost out of sheer misunderstanding - all of it will have been worth it knowing that I did everything that I possibly could for my son. People can judge away, but you really don't know how it feels.

Here's the link to our fundraising page. It will be at the end of every blog post I write for the next couple of months. If you can find it in your heart to help us out, I'd appreciate it.

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VX-770 APPROVED and What That Means for Us!

I am so so excited to have received the news today that the FDA approved the drug VX-770, now called Kalydeco. It is the first drug that targets the underlying cause of Cystic Fibrosis, rather than just treating the symptoms. I'll tell you a little bit about the drug and what this news means for us.
*A lot of this info is coming straight from the CF Foundation website

Kalydeco was tested in CF patients with a specific mutation called G551D and showed remarkable results - improved lung function and lower sweat chloride levels and helps patients gain weight — all key indicators that the drug is working. In people with this mutation, the defective protein that causes CF moves to the right place at the surface of the cell but does not function correctly. Instead, it acts like a locked gate, preventing the proper flow of salt and fluids in and out of the cell. Kalydeco helps unlock that gate and restore the function of the CFTR protein, allowing a proper flow of salt and fluids on the surface of the lungs. This helps to thin the thick, sticky mucus caused by CF that builds up in the lungs.

Now that it has been approved, Kalydeco will be available to patients 6yrs and older with the G551D mutation by prescription, and while they aren't calling it the "cure", the quality of life for patients with this mutation taking this drug will be dramatically improved.

CF mutations fall into 5 classes based on the problem at the cellular level. The G551D mutation falls into Class 3. People with this class of mutation have a defective protein that moves to the right place at the surface of the cell but does not function correctly (see image below, compare the first picture, normal, to the Class III picture). Instead, it acts like a locked gate, preventing the proper flow of salt and fluids in and out of the cell. Kalydeco helps unlock that gate and restore the function of the CFTR protein, allowing a proper flow of salt and fluids on the surface of the lungs. This helps to thin the thick, sticky mucus caused by CF that builds up in the lungs. I mean look at how close a normal cell is to the Class 3 mutation. When this drug unlocks that locked gate, the cell works normally, removing the signs of CF. Its truly a medical breakthrough.

So while Drew does not have the G551D mutation that this drug was tested on and approved for, he does has another Class 3 mutation called R560T. There is belief that Kalydeco will correct all class 3 mutations, though it hasn't been specifically tested. Clinical trials are scheduled to begin in mid-2012 on people with other Class 3 or "gating" mutations. I have heard that this drug could cost as much as $200,000 a year, so I'm sure that without proper clinical testing on our mutation it will be extremely hard to get. Other drugs that Drew has taken haven't been tested on or approved for use in kids under age two, and with a little bit of work we were able to get those. I am very anxious to try this, either through clinical trials or just with a straight prescription and some followup tests to see if it is working for him.

I have had and continue to have a lot of hope in this drug. Your continued support and donations have made this drug possible, as Cystic Fibrosis received no federal funding. Your donations supported and developed this drug through the pipeline and through the FDA and will now change the lives of many people living with Cystic Fibrosis. Thank you for your past and present support. It means so so much to me. Visit our Great Strides Homepage to see what our everyday is like living with Cystic Fibrosis and how your continued support of our cause will help to cure Drew from this horrible disease.

VX-770 Has Been APPROVED!

Just stopping in to share some GREAT news for the CF world - VX-770 or Kalydeco as it is now known, has been APPROVED by the FDA! Here's the link, check it out:

Friday, January 27, 2012

Sign us up for another surgery & Great Strides 2012

We had Drew's ENT appointment this morning to discuss the results of his sinus CT scan. The doctor said it was a really bad CT, meaning that his sinuses are completely blocked. He said that he can't smell, and he probably can't taste anything (which explains the lack of interest in eating). He said that he hadn't seen sinus disease this bad in a CF kid this small. That was kind of disheartening. The only option we really have is to go in there, clean him out, widen his sinuses, and start fresh. He will go on a nasal steroid after that to help alleviate much of the inflammation caused by CF, but a sinus surgery is likely in our future on a yearly or near yearly basis. The question that I keep asking is "What's the deal with sinus disease?". And the answer I keep getting is that its just a chronic sinus blockage/drainage problem. It's not like lung disease which is progressive and fatal, its just ugly and annoying. If it got really bad it could potentially change the bone structure in his face, but we aren't even in that ballpark yet. Its mostly a discomfort thing for Drew. I'm sure everyone has had sinus pressure at some time or another. Now imagine those sinuses compacted with mucus and chronically swollen. That's that we have going on. Surgery hasn't been scheduled yet, but I'm hoping we can get it done before the new baby comes (7 weeks!). We are waiting to hear from the hospital, as they will also do a bronchoscopy at the same time to get a good culture from his lungs. Its been a whole year since we've been in the OR so I'm definitely not looking forward to it, but it seems pretty straightforward and it should make a significant improvement on the way he feels, so we're going for it.

I am a little worried that I have to much hope for VX-770, the drug coming out in April that will correct the basic defect of CF in patients with a certain mutation. While we don't have the mutation that the drug was tested on, we have a mutation within the same class of mutations, and researchers are hopeful that it would affect all folks within that class similarly. It removes the clinical signs of CF. Sweat chloride is normal (read: he won't taste like salt when you lick him). The mucus in his body would be more like yours and mine, working for the good and not harboring harmful bacteria and clogging organs and sinuses and causing disease. I feel like I'm just waiting for April for our "cure", and I'm afraid I'm giving it to much hope because I don't know if it will work for us or not. The positive thing is that if it does not work, there are so many other drugs in the pipeline, and surely one of them will be able to help us. 2010 was a good year to be born with CF, if you have to be born with it at all. I guess its not bad to have such hope!

So with that all, I am ready to start my 2012 Great Strides Campaign. I've said it once and i've said it 1000 times, Cystic Fibrosis receives no federal funding because not enough people have it for the government to care. It breaks my heart and pisses me off, but the only thing I can do is to raise my own money for the research and the drugs that we need to keep Drew going. Take a moment to watch a little video about what our life with CF is like, and if you can find it in your heart or deep in your pockets to make a donation, I will be forever grateful.

To make a donation, please visit our Great Strides donation page by clicking HERE, or by clicking on the widget on the lefthand side of my blog called Great Strides. I will be forever grateful if you can help to save my sons life.

Sunday, January 22, 2012

Funky Nose Resolution...coming soon

My babies are sleeping in big kid beds!! We made the switch on Friday night and I have to say, I think its going pretty well. Friday night took a few hours to get them to go to sleep, but last night it was only about 30 minutes of in and out of bed with a few tears before they gave in and went to sleep. And on Saturday they slept until 8:45, and got up just after 8 this morning. Winning! I can't believe how big they are getting though. They will be 2 in less than 2 months. I really wanted to get them transitioned before Quatro makes his/her appearance so that we didn't have to deal with that once there was a new baby needing our attention. Definitely could have been worse.

The funky nose that we've been dealing with for about 3 months now will finally be addressed this Friday at the ENT. From the way the CF docs made it sound, a sinus surgery is probably in our near future, but hopefully that will fix our problem and we can get on some medicines to keep things at bay. I've been a little overprotective lately about germs, as Drew is so congested without a cold, and I think that catching something would send him into a tailspin. This year is SO different from last year, when at least one of the kids was sick at every single moment from about late October through March. It was miserable. We are extra careful about hand washing and sanitizing and ask everyone we hang out with if they are healthy before we get together. No outside germs are coming into this house this season. Well, at least not if I have anything to do with it!

I met an amazing woman this weekend. She is a 50 year old woman living with CF. While unfortunate circumstances brought her to town, it was so great to finally meet her in person and have her confirm that I am not a loon about my hand washing/sanitizing and overprotective ways. Her mom took such good care of her when she was growing up, way before they even knew what caused CF, and she is in good health today. She still spends a lot of time doing her treatments and being careful and protective of her health. If its worked for her thus far, I'm all about hopping on that train!

I also got a comment on here from a mom who has a son experiencing symptoms similar to those that a lot of CF folks have, yet her son tested negative for CF. Unfortunately I don't have her email address or any way to get back in touch with her, so if you happen to be reading this, email me! I'd love to chat!

I'll post an update after our ENT appointment. I'm hoping there is an easy solution. I would love to not need another surgery, but I guess we will do what we have to do!

Saturday, January 14, 2012

Significant Sinus Disease

So the doctor called back, and while they didn't specifically see any polyps, she did say that he has significant sinus disease. I got the impression that its not really as bad as it sounds? It was described to me as a chronic condition where a persons sinuses are like constantly inflamed and blocked with mucus. Its fairly common with CF apparently. There are acute episodes that one can have if they have sinus disease, like they are assuming Drew is having now. I understand that, like the mucus in the lungs of a CF person, the sinus' also have trouble draining and can culture bacteria. Drew will be on a nasal steroid to try to keep some of the inflammation down, once we get past this acute episode. We have been referred to an ear, nose & throat surgeon (ENT) and will potentially be having sinus surgery to unclog and widen his sinuses. Once they are "clear" that's when the nasal steroid will go into use, trying to prevent further acute episodes. Some kids/people with sinus disease just learn to live with the stuffy/runny sinus cycle, while others get significant relief from repeated sinus surgeries over time. Sometimes these acute episodes will require an antibiotic, but just like his lung infections, the runny/stuffy nose will not be contagious. That's another tough one, because who wants their kids around someone with a funky nose? Oh well, we survived the cough assumptions and we'll survive the nose one too. We have an appointment with the ENT next Friday so hopefully we will have a better solution after that. And hopefully, when Drew gets to try the new FDA drug in April, it will fix his mucus problem and in turn also correct some of these sinus issues too!

Thursday, January 12, 2012

No Sedation Necessary!

Guess who had a CT scan this morning...without being sedated??? That's right! When we got to the hospital at 6am all ready for sedation for this 2 minute CT scan, the nurse said to me, "Do you think he'll just lay still for it if we wrap him up?" My initial response was probably not, based on past experiences. But homeboy has gotten brave I guess, because we decided to try it, and he laid down on the table and let them wrap him up and brace his head down, all while holding dogdog (his favo toy) and watching Elmo. The scan literally took 3 minutes so it would have been a sin to sedate him for something that quick, but if he was screaming then they certainly wouldn't have been able to get the images they needed. Luckily, he was being agreeable this morning. Probably because he was still half asleep :)

So now we will wait to hear from the doctor on what they found. The most likely scenario seems to be nasal polyps and compacted sinuses. While I don't know the specifics, it sounds like surgery is the fix for that. Hopefully it will be quick and easy, whatever it is, and solve this chronic funky nose problem once and for all!

Tuesday, January 10, 2012

Sinus CT

I had a great meeting yesterday with Senator Portmans Chief of Staff for SW Ohio. She was a really nice woman who seemed very compassionate and caring. She took the time to listen to my talk on why having Senator Portman with us on the issues facing the Cystic Fibrosis Community would be so hugely beneficial to the health and well being of everyone within the CF Community. She took lots of notes and asked a handful of questions, and I felt like I made a difference. Every time I have the chance to share our story I am going to jump on it because the more people who know and care, the better off we all are. Hopefully I will have another advocate in Senate...or at least someone who works for him.

We also learned yesterday that the new CF drug, Kalydeco, is targeted for approval by April 18th! I had talked to Drew's doc last time we were in about wanted to get on that asap to see if it would help him. There are a couple of little obstacles we will have to go through, the first being the age approval for the drug. It is being evaluated for use in kids over the age of 6. Thats not to say that it won't work on younger patients, just that it was never tested on them so they don't know the appropriate dosage and whatnot. There are new clinical trials coming up, both on kids as young as 2 with the G551D mutation, as well as other younger kids with mutations within the same class (Drew!). I don't know if it will be a blind study or not, one where someone is given a placebo, but if it is then I hate to say that I don't want to participate. I want to get on the drug before we have any lung damage. I do understand the importance of these tests and trials, but I hate to think that signing up for a trial could mean another amount of time without something that could potentially fix him. Nothing specific has been released on the details of the clinical trials yet but as soon as they are I'll be all over it.

I finally called Drew's doctor again today about the chronic funky gunky nose. They decided they wanted to do a sinus CT scan to make sure he didn't have a sinus polyp or anything. Any infection that he did have should have been treated and cleared up by the antibiotic that he was on for 2 weeks, or at the very least alleviated by the nasal steroid. None of that has made any difference, and the poor boy brings me the big ol' suction bulb thing to clear him up several times a day when he just can't get relief. He's literally a snotty mess. The bright side is that it has all remained in his head and not moved to his chest. The bad news is that he could need a sinus surgery. I guess we'll see what happens on Thursday. More news as it breaks!

Sunday, January 8, 2012

Long time, no blog

Happy New Year! It's been some time since I've been on here with an update on things. I'm happy to report that we remain mostly status quo. The funky nose that we've been dealing with remains, but it seems to be a CF sinus blockage issue rather than any kind of bacterial infection (win!). We are on a nasal steroid now and regular saline nose spray, and with regular suctioning of the nose, are getting by. I'll probably talk to the doctor again this week to see if there is something else we should be doing to help get this cleared up. I just feel bad for Drew and his poor little snotty, chapped nose. Hopefully we can solve this problem like we've solved most of our other ones.

Tomorrow I'm meeting with Ohio Senator Rob Portman. I had put in a request for a meeting back in July during the "Make Every Breath Count" campaign, and in just 6 short months they were able to get back to me to schedule a meeting. I guess maybe they hope that people will forget what they wanted to talk about or change their mind about meeting on some hot button issue, but I said I still wanted to meet, and tomorrow is the big day. I flying solo for this one, but I have confidence in what I'm talking about so I'm not to worried about it. While some of the issues have changed, I'm still just asking for their continued support of the FDA and the NIH as cuts to these departments of government would be detrimental to the health of so many people, both with CF and otherwise. I also can't wait to tell them about the new drug coming out in April (pending approval by the FDA of course) that will be a game changer for so many people with CF and a medical breakthrough for so many genetic diseases. At first I did think it was a little silly to meet with them right now since I'm not asking for them to vote one way or another on any specific issue, but then I thought about how important it is to let any and all decision makers know how the very people they are representing feel about issues that are important to them. If I don't tell them about CF, who will? They need know who they are affecting with the decisions they make. It's their job to listen to people like me.

Its almost fundraising season again so get ready for me to come knocking on your door asking for help and support. If there are any other CF families who are reading this who are interested in participating in a huge CF Tupperware fundraiser where you will earn money for your team ( that's right, your team, not mine), shoot me an email. I was able to connect with an amazing Tupperware consultant who is hosting a huge fundraiser for the CFF in February where up to 40% of the proceeds will go to our cause. 40% is no small amount so let me know if you want to participate and I'll hook you up!

In other news, the twins are quickly approaching their second birthday. I am going to have a party for them this year, but in February, as their real birthday (March 14) is just 4 days shy of Quatro's due date. I suspect I will have no interest in hosting a birthday party 40 weeks pregnant. Last year I got freaked out about germs that other kids might bring and just had family, but at this point our friends and family know well enough that they just need to steer clear if they aren't feeling well or have something Drew could easily catch, and frankly I've calmed down quite a bit on the germaphobia. We still use a lot of hand sanitizer, or hanitizer as the kids call it and try to avoid situations where picking up some unwanted germs would be likely, but I'm trying my best to just live our lives as normal as possible. We still wear masks at the doctors office and Clorox wipe down high chairs and tables at restaurants and shopping carts, but at least we are going out!

So that's whats been happening here lately. I'll update on my meeting with Senator Portman after my meeting tomorrow. I'm bummed that I won't be making it to the CF Foundations Advocacy Campaign "March on the Hill" in DC this March, but we have something a little more important happening. I'll continue my advocacy efforts as strong as I can, and if I can ever help anyone in any way, please don't hesitate to ask!

Its 8:45 now, so off to bed for this lady!

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