Thursday, December 29, 2011
Friday, December 23, 2011
Wednesday, December 21, 2011
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.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!
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.
Tuesday, December 20, 2011
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 - http://nacfcdl.cff.org/Documents/Wyatt.pdf . 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
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.
Tuesday, December 13, 2011
Sunday, December 11, 2011
Tuesday, December 6, 2011
Monday, December 5, 2011
Monday, November 28, 2011
Wednesday, November 23, 2011
Saturday, November 19, 2011
Saturday, November 12, 2011
"...Some mutations result in CFTR proteins at the cell surface that do not function properly. They function like a locked door. VX-770 unlocks the door and allows these proteins to function correctly, improving the flow of salt and fluids in and out of the cell.VX-770 is designed to increase the function of the defective protein at the cell surface in people with the G551D mutation. The defective protein functions like a locked door.
VX-770 helps unlock the door at the cell surface, enabling chloride to pass through, as it would in healthy cells. This restores a proper flow of salt and fluids on the surface of the lung. For these reasons, people carrying the G551D mutation appear to have a strong potential to benefit from VX-770.
It is possible that the results of the Phase 3 trials will provide a basis for the use of VX-770 to treat other similar mutations...."So that gives me some hope (okay, a lot of hope) that this new drug, which will hopefully be made available in 2012, will remove the symptoms of CF in Drew and for everyone with Class 3 mutations and not just those with the G551D mutation. And if it doesn't, there is another drug that targets delta F508 that should be available in the next few years. I also found this posted on a CF Forum website: "The thing that gives me the most hope for Class III mutations is this quote from an abstract of a presentation made by Vertex, where they tested VX-770 in-vitro (in a test-tube): Class III mutations
Friday, November 4, 2011
November 4, 2011
The North American Cystic Fibrosis Conference (NACFC) kicked off its 25th anniversary on Nov. 3 with exciting reports from the CF drug development front and powerful messages of hope from people with CF and their families.
Watch Lauren Brenneman and her son Isaac's video presentation
Thursday, November 3, 2011
I sent it to our doctor at the CF Clinic and this is what she had to say:
.... Either way, a woman pregnant with a fetus they either know or suspect has CF will wonder if there is anything they can do to lessen the chance that the baby will suffer complications in utero.
Until very recently, the answer was no. All that could be suggested was ultrasounds in the third trimester to look for signs of incipient meconium ileus (severe bowel blockage) that might necessitate emergency Caesarean delivery and immediate surgery for the newborn. However, some very recent research argues that supplementation with two nutritional supplements - DHA and GSH - may lessen or even prevent the manifestations of the disease that begin even in utero.
DHA is docosahexaenoic acid. Recent research has shown that CF persons suffer from a 3-fold decrease in the amount of this lipid present in the cell membrane. (Please see section on DHA for more information and scientific references.) The researchers argue that this lipid imbalance plays a role in the development of inspissated plugs in the pancreas and other organs - which plugging begins in utero. The researchers suggest that supplementation of the mother with DHA will tend to rectify the lipid imbalance in her fetus, thus preventing the development of such plugs even in utero. Their theory suggests that the chance of the fetus developing potentially life-threatening meconium ileus can be drastically reduced if the mother's diet is supplemented with DHA. (It is important that the supplement taken contain only DHA, and not any other fatty acids such as EPA or linoleic acid, which compete with DHA for placement in the cell membrane.)
GSH is reduced glutathione. GSH is the most important antioxidant in the body for neturalizing water-soluble oxidants. It is also a powerful mucolytic. For our purposes here, it is glutathione's third property as an important regulator of inflammation that we will discuss in this context. Researchers have shown that the chronic and excessive inflammation that characterizes CF begins in utero. This inflammatory state directly damages the tissues of the body, which in turn primes the body for bacterial colonization as well as eventual immunodeficiency. If one could lessen or even shut off the very start of that inflammation which begins in utero, the CF infant should have a better start in life. In 1998, researchers first noticed that the CFTR channel, which channel is missing or defective in CF persons, is the main efflux route of cellularly-produced GSH (see section on Glutathione for more information and scientific references). This is a very important finding, as the redox state of GSH in immune system cells is the primary trigger of inflammation in the body. If GSH becomes depleted in immune system cells, inflammation begins. This is precisely what begins to happen in the CF body, and this is what is hypothesized to be happening in utero. This theory suggests that supplementation of the mother with GSH may tend to lessen any GSH deficit that may start to develop in the immune system cells of her fetus. This should serve to lessen or even shut off the origin of fetal inflammation.
Thus, in addition to all of the usual vitamins and minerals a pregnant woman is asked to take, a woman who is pregnant with a fetus that she knows or suspects to have CF might also consider supplementation with both DHA and GSH. DHA and GSH are both nutritional supplements available in health food stores without any prescription. And, given that the woman herself is a CF carrier, and therefore suffering to a lesser degree from the CF mutation, the additional DHA and GSH might do her own body good as well! (Please also see our link on the importance of a postpartum Vitamin K shot for a CF newborn.)
One last piece of research will also be useful to the woman: pregnant CF carriers tend to develop gestational diabetes during pregnancy. Alert your obstetrician or midwife to that fact, so that precautions can be taken. You may need to avoid certain types of food, such as sucrose, during your pregnancy. You may also gain more weight than the average pregnant woman because of the gestational diabetes. One good thing is that unlike non-CF carriers that develop gestational diabetes, you are unlikely to develop potentially dangerous hypertension. The reason for this is that CF carriers, like CF persons, tend to have lower-than-average blood pressure to begin with. This is one of the few blessings of having a CF mutation! However, you cannot count on this as a certainty. We have heard from one mother, a carrier of the delF508 mutation, who did have high blood pressure while pregnant. Another observation has been that the placentas created by the bodies of CF carriers tend to become quite calcified - almost to the same extent as if the mother was a heavy smoker. It is theorized that this has to do with the impaired absorption of minerals by the CF carrier's body. This may also be important for your doctor or midwife to understand.
I have seen a review article that describes the fatty acid alterations in blood and tissue of CF patients. There have been studies looking at supplementation in CF patients which show an increase in the fatty acid composition but no change in clinical outcomes. They conclude that larger studies are needed and more clinical outcomes need to be evaluated to see what impact supplementation may have. I have not seen anything about fatty acid alterations in CF carriers or supplementation during pregnancy. However, it seems as though DHA and GSH supplementation would not cause any harm and therefore may be worth a try. You might want to talk to your OB.
Sunday, October 30, 2011
Thursday, October 27, 2011
We don't know that what may seem like useless detours are where we might meet the most amazing people of our lives, or enjoy the best scenery, or learn the most important things.
Sometimes we fail to enjoy the trip because we are so hung up on wanting to see the itinerary. You will have the best times of your life when you just TRUST that you are exactly where you are supposed to be, doing exactly what you are meant to be doing, and that tomorrow you will be lead to the next destination.
You always have been, you always will be.
Remember to travel light, only take what you need with you. It will make things so much easier.
ENJOY YOUR FLIGHT, little birdie!
Wednesday, October 26, 2011
Friday, October 21, 2011
What if many people with cystic fibrosis lost the ability to go to their care center? What if they could no longer afford their treatments? We need your help to make sure that the thousands of people with CF who rely on Medicaid never have to answer these questions.
Twelve members of Congress could limit the ability of many in the Medicaid program to access their care. Your voice can help ensure that doesn’t happen.
This summer, Congress created a new deficit reduction “supercommittee.” Its 12 members were given broad powers to change the Medicaid program.
Medicaid provides health coverage for children and adults with CF who cannot afford other types of insurance. It is often the last resort to make sure they are able go to a CF care center, see a doctor with expertise in CF and afford their inhaled antibiotics, nebulizers, enzymes and other treatments.
Supercommittee members need to cut the country’s budget deficit, but it’s up to us to make sure they protect access to the specialized care people with CF need to stay healthy.
Help spread the word:
Not on Twitter? No problem!
Thank you for all that you do! Together, we are making a difference in the lives of people with CF.
Wednesday, October 19, 2011
Vertex Submits Application to FDA for Approval of VX-770 – First Potential Drug to Target Underlying Cause of Cystic Fibrosis
October 19, 2011
Vertex Pharmaceuticals, Inc., announced today it has submitted an application to the U.S. Food and Drug Administration for a potential new CF therapy, VX-770 — under its new proposed trade name, KALYDECO™.
If approved, it will be the first drug on the market that targets the underlying cause of cystic fibrosis. Therapies available to people with CF to date only treat symptoms of the disease.
The company is seeking approval for the drug in people with cystic fibrosis age 6 and older who carry at least one copy of the G551D mutation of cystic fibrosis.
KALYDECO (kuh-LYE-deh-koh) was discovered in a collaboration between Vertex and the Cystic Fibrosis Foundation, which provided substantial scientific, financial and clinical support throughout the development process.
“The CF Foundation is thrilled that KALYDECO is on track for possible FDA approval in 2012,” said Robert J. Beall, Ph.D., President and CEO of the CF Foundation. “This is a significant step forward in our collaboration with Vertex and is further validation of the CF Foundation’s drug development strategy. We remain committed to accelerating the development of similar targeted medicines that will benefit all people with cystic fibrosis.”
Vertex has asked the FDA for priority review of the potential drug, which, if granted, could shorten the review from 10 to 6 months. The FDA grants priority review status for several reasons, including in situations where a potential drug is considered a major treatment advance.
Results released earlier this year from Phase 3 clinical trials of KALYDECO in people with the G551D mutation of CF 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 placebo.
As FDA review of the potential drug gets underway, Vertex has set up a program to provide KALYDECO to people age 6 and older with the G551D mutation who are in critical medical need and could benefit from the treatment prior to potential approval.
The expanded access program is designed for people with CF who have highly limited lung function and meet other criteria. (Information about the program is available at CF Foundation-accredited care centers.)
KALYDECO is currently being evaluated in combination with another oral drug in development, VX-809, in people with the most common mutation of CF, Delta F508.
Vertex plans to begin the second part of the Phase 2 KALYDECO and VX-809 clinical trial this month and will evaluate the two drugs over a longer period of time.
Tuesday, October 18, 2011
"Our goals are simple and terrible: to help our children live with minimal discomfort and maximum dignity. We will not launch our children into a bright and promising future, but see them into early graves. We will prepare to lose them and then, impossibly, to live on after that gutting loss. This requires a new ferocity, a new way of thinking, a new animal. We are dragon parents: fierce and loyal and loving as hell. Our experiences have taught us how to parent for the here and now, for the sake of parenting, for the humanity implicit in the act itself, though this runs counter to traditional wisdom and advice."
Monday, October 17, 2011
Wednesday, October 12, 2011
Thursday, October 6, 2011
My name is Erin Moore, and I have an 18mo old son who has Cystic Fibrosis. Several months ago, I volunteered to work as the State Advocacy Chair, helping to raise awareness of the disease and lead the Foundation’s efforts by building relationships with targeted Congressional offices in order to increase support for the Foundation’s policy agenda. I have asked my friends and neighbors to advocate with me, and today I'm asking for your support as well.
A few weeks ago, I had the opportunity to meet with Congresswoman Jean Schmidt to discuss some of the things going on in the Cystic Fibrosis Community and how she can have a positive impact for the many people living with it. First on my list was to ask for her support in opposing cuts to the Food and Drug Administration (FDA) and the National Institute of Health (NIH). The House’s 2012 Agriculture, Food and Drug Administration Appropriations bill cuts funding for the human drugs section of the FDA by $61 million. Cuts in funding for drug evaluation in the FDA could mean fewer, more overburdened reviewers, slowing the review process. There are 8 promising CF treatments heading to the FDA for review in the next couple of years, and those with cystic fibrosis and other rare diseases can’t afford to wait for urgently needed new medications. The National Institute of Health provides funding for the research that is going on at places like Cincinnati Children's Hospital. Cuts to this funding could mean that this research must be put on hold, and we don't have time to wait.
Another item on the Policy Agenda of the Cystic Fibrosis Foundation that I was able to discuss with Congresswoman Schmidt was the importance of assuring that people with cystic fibrosis receive access to the care and treatment they need to help them live longer and healthier lives. More specifically, I was asking for Congress to help people with CF to have access to high-quality health care that adheres to the current standards recommended by CF treatment and research experts and to protect the ability of cystic fibrosis patients to get the medical care they need by reducing the increasingly prohibitive cost-share burden of this expensive disease.
Congress is currently working on the 2012 budget and many parts of that budget will impact the CF community. Congress has signaled that they are looking to reduce spending. Spending cuts that affect the Food & Drug Administration (FDA), the National Institute of Healthy (NIH) or Medicaid could be harmful to those of us dealing with CF. We need to be the voice that collectively tells Congress why preserving strong funding to these programs is so vital to the health of our community.
WHAT YOU CAN DO TO HELP!
In October, the Joint Select Committee on Deficit Reduction will be responsible for finding $1.5 trillion in savings from the Federal Budget. Even though everything in the budget (including FDA and NIH funding) will be on the table in their discussions, conversations with leaders on Capitol Hill have led us to believe that Medicaid is in the greatest danger of significant changes that could leave thousands of people with CF without vital health coverage. As a result, we think our collective voices will be most effective if we focus exclusively on Medicaid in our messages to this committee.
Contacting the members of this specific committee will be critical over the next several months if we want them to consider the very serious implications that cuts to Medicaid will have to people living with Cystic Fibrosis. Please take just a moment to click on this link to let them know that you oppose these cuts - http://bit.ly/ngfEuP
Additionally, advocacy will continue to be an important part of preserving the quality of life for Cystic Fibrosis patients. Sign up to be an advocate and let your voice be heard in Congress for yourself or your loved ones living with Cystic Fibrosis. It takes no more than a few minutes a month but has an immeasurable impact. Visit http://www.cff.org/GetInvolved/Advocate/ to sign up today.
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