A lot of info

We have had a FULL schedule the past week and a half and things finally seem to be slowing down. Between doctors appointments, meetings, play dates and other commitments, we haven't had a minute of downtime.

This past Thursday was the kickoff for Cincinnati's Finest Young Professionals, a fundraiser for the Cystic Fibrosis Foundation. Two of my friends were nominated this year and I'm excited to work with them to help raise money for the CFF. At that event, I had the opportunity to talk with Dr. Clancy for a few minutes! I think that I had posted a couple of weeks ago about how I had asked Drew's doctor if she had any knowledge of taking DHA and GHS while pregnant with as a CF carrier to prevent meconium ileus. Her response was that no, she hadn't really heard of it, though if there weren't really any risks involved, while she hadn't known of a proven benefit, it couldn't hurt. So I checked with my OB, and her response was similar. To actually have human data to look at, there would have to be a sample of people who knew that they were pregnant with a CF baby which, in itself, is rare. Then, since meconium ileus only happens seemingly randomly in babies who have a mutation that carries pancreatic insufficiency, it would really be hard to isolate how truly effective taking those medications are in preventing meconium ileus since you couldn't be sure the kid was going to be born with it in the first place. That said, my OB said that she didn't really see any harm in taking those medications but suggested that I also check with Dr. Clancy to see if he had any knowledge of research done on these medications for the purposes I was asking about.

So Thursday night came and I had the chance to talk to Dr. Clancy. He said that there were actually some current studies being done of supplementing newborns with DHA and GSH and how they help them since CF kids produce insufficient amounts of these on their own. He also said that he didn't see any real harm in taking them while pregnant, as long as it was in a reasonable dose. It would be unclear how much would actually get passed along to the baby, who may or may not have CF (obviously we're hoping not) and also unclear would be if the baby were born with CF and without meconium ileus if it would be because of my having taking those medications. That said, he said that if it would help me sleep at night thinking that I was doing something proactive and there was no risk to the baby either way, he didn't see anything wrong with it. So I may. I haven't decided yet.

The North American CF Conference was last week and I so so wish that I had been able to attend. Some of the materials have been made available online (CLICK HERE). There's a really interesting one on Animal Models in CF, and if you read through it and see some of the Pig Model (which has only been around for 3 or 4 years), there are crazy similarities between the symptoms of the disease that they display and the ones that Drew has. In talking with Dr. Clancy on Thursday, he said that hes sorry for all that Drew has had to go through the past 18mo, but that they have learned a TON through him. Prior to Drew, the Cincinnati CF clinic hadn't seen airway abnormalities and tracheomalacia in CF kids like Drew had. They had assumed that they two were unrelated and that he was just unlucky in having smaller, disfigured airways on top of his challenge to clear secretions. But with the research that has come on on the pig model in the past year or two and seeing the airway abnormalities of the pigs, it would seem that its more than a coincidence but rather a clinical manifestation for the mutations that Drew has.

So with the knowledge that his mutations seem to have caused most of his problems, I was doing a little more research on the mutations that he has. He's got f508del and r560t. Delta F 508 is the most common CF mutation with over 70% of the CF population carrying at least one copy of this mutation. This mutation falls into Class 2 of CF mutations (see HERE for more on mutation classes). His other mutation, r560t, falls into Class 3 (stay with me, I have a point). You may have read recently some of the news for the new drug called VX-770 or Kalydeco that just went to the FDA for approval. It treats one of the basic defects of CF....namely, the defect of Class 3 mutations! It wasn't specifically tested on his mutation but rather a mutation called G551D. But that mutation falls into Class 3. Here is some what was written on the CFF website about VX-770:

"...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

demonstrated the largest VX-770 response, with all 8 class III mutations tested (e.g.,G178R, G551D, G551S, G1349D) showing a >10-fold increase in Cl? transport compared to baseline". So I guess we'll just have to wait and see what happens!

The other thing that I've been quite happy about recently (knock on wood) is that Drew got his first cold that he got over on his own without antibiotics! I'm not sure if its his prior year exposure that has his immunity built up a little or his stronger airways now that hes a little older allowing him to cough things out a little better or what, but I'm happy about it. We've been on hypertonic saline for a while now, but we'd only been using it once a day. I had read some research suggesting its benefits to be more profound if it was administered twice a day. However, it can't be given at the same time as Pulmozyme, so that allowed us to use it with his morning treatment but not his evening treatment when we give him his Pulmozyme. But I decided that we would see if it really helped him, so I added in a third treatment during the day, right after he wakes up from his nap. And wouldn't you know that having been observing this now for probably a good two months, there is little to no coughing, colds seem to be a runny nose that lasts for a few days and then disappears, and overall he just seems better. So we will continue with the hypertonic twice a day...until that little blue pill becomes available to us and we "cure" him! Fingers crossed people!