Thursday, November 3, 2011

About preventing a bowel blockage

So, as we all know by now, being a CF carrier married to another CF carrier gives any of our offspring a 25% chance of having CF. That means a 75% chance that they won't. We had discussed this all at length before deciding to have another kid after Drew's diagnosis, and also decided that we wouldn't be finding out before birth if the baby does or does not have CF. There is more risk than benefit involved with finding out, as there is nothing that can be done for the kid ahead of time.

Having had Drew born with meconium ileus, I had some questions for both his doctor and mine about the likelihood of CF manifesting itself in that form again. I learned that about 85% of people with CF are pancreatic insufficient (which is why Drew takes enzymes every time he eats to help him digest the food and hold onto the fat) and that of that 85% about 20% are born with an intestinal blockage. Having had 1 baby with meconium ileus doesn't make me any more or less likely to have it happen again, but with the two mutations that any of our children would have if that had CF, they would be pancreatic insufficient and therefore put them into the 20% that could be born with a blockage.

I had asked Drew's doctor if she knew anything about stuff a mother could do to prevent such a blockage from happenings, such as taking a laxative or stool softener. The answer was no, because drugs like those don't enter your blood stream, they just go right to your gut. If it doesn't enter your bloodstream, it doesn't get passed on to baby through the placenta, therefore rendering it useless to baby.

So I did a little research online and I found an interesting article:

If You are a Carrier Pregnant with a CF Child

.... 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 sent it to our doctor at the CF Clinic and this is what she had to say:
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.
So I emailed my OB today and asked her to take a look into this and see if there are any risks associated with taking DHA and GSH while pregnant and when I have my appointment next week, we can discuss and perhaps I can start taking these supplements. They very well may be all for naught, as there is a 75% chance that this baby will not have CF. But if we got unlucky and potentially help to removed the chance of a blockage, i'll do whatever necessary.

In my searching, I found this interesting website. It had a few things on it that I found interesting to read about, like the pseudomonas vaccine and some other interesting therapies. I thought I'd share the link. It is in no way associated with the CF Foundation, but interesting research nonetheless. http://cystic-l.org/handbook/

Sunday, October 30, 2011

Happy Halloween

I know Halloween isn't until tomorrow, but I had a few minutes to sit down and share some photos from Ella's Halloween party at school. Ella is dressed up as Jessie the Cowgirl from Toystory 2 and the twins are garden gnomes. I seriously couldn't stop laughing at how ridiculous (and cute) they all looked in their costumes.




We were all set for an uneventful, relaxing weekend when Lily decided Saturday morning to drink half a small bottle of hand sanitizer. I immediately called poison control who said she needed to be taken to the hospital to be monitored, since its 62% alcohol. I was also advised that she might start to stumble, slur her speech and potentially pass out (none of which ever happened, thankfully). Martin took her to the ER where they drew blood and kept an eye on her for a few hours. Her blood alcohol level came back normal so either she didn't actually eat as much as we thought she had, or she's been up to this before and has built up a tolerance (kidding!). Very luckily, she was fine and we were able to carry on with our weekend.

In other very good and exciting news, Drew's latest culture came back NEGATIVE for pseudomonas! Hopefully it remains that way for a while. He did have some Haemophilus but they are going to treat that unless he shows symptoms of being sick, which he is not. Hopefully he can cough that out on his own without antibiotics.

Tomorrow night we will all bundle up and brave the cold for some trick or treating. I don't suspect it will last long but hopefully everyone will enjoy themselves for the short time we spend outside!

Thursday, October 27, 2011

a little bird told me...


Life is a trip with a perfect itinerary that we cannot see. Imagine it this way -- that there really IS an itinerary, but you just can't see it. There is an amazing destination, but you just don't know where the stops along the way will happen where you will have to refuel, where your best memories and your greatest lessons will happen.

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

Clinic Visit

Not much going on around here these days. The weather has been really nice and we've been spending tons of time outside. Its supposed to get cold now, just in time for Halloween. I'll definitely have to post some pictures after that because the kids costumes are CUTE!

We had a clinic visit on Monday and are hoping that we get a good culture back later this week. Hopefully our pseudomonas is gone again and will stay gone this time. Drew's overall health looks good. I got to see his CT scan that the doctor still says shes very happily shocked about. Everyone kind of just expected things to not look good with all the trouble that he had over the past year, but alas, it looked just fine. They said that sometimes in younger kids there is some evidence of bronchiectasis in the upper lobes but he doesn't seem to have any signs of that whatsoever. There wasn't any signs of lung damage and everything looks just the way its supposed to. I'd like to keep it that way.

Drew is currently on a hunger strike. I haven't figured out what he's trying to prove, but the boy won't eat. Ok let me correct that - he won't eat anything but fruit and an occasional corndog. The boy who use to love peanut butter now steers clear of it. He won't eat chicken nuggets, corn dogs, hamburgers, pasta, nothing. His weight isn't down (thank God) but i'm afraid we're headed there. I hear that toddlers go through these stages. Its just a little more challenging for a toddler who needs fat to thrive. We might be turning to smoothies soon.

I'll post an update when we get Drew's culture back, probably on Friday. Until then, I hope that our lives remain uneventful in a good way!

Friday, October 21, 2011

What If

A message from the Public Policy Department of the CFF



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.

Many families in the CF community would struggle to afford care without Medicaid protections. Speak out now!

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:

Are you on Twitter?
Please retweet the CF Foundation’s messages in the coming weeks to each member of the supercommittee.

Not on Twitter? No problem!
Send a message to all 12 members of the supercommittee now.

Thank you for all that you do! Together, we are making a difference in the lives of people with CF.

Wednesday, October 19, 2011

Great news for the CF Comminuty

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.

Additional Resources