This week, I left Lemon for the first time, to head down to Atlanta for the North American Cystic Fibrosis Conference (NACFC). Of course, Lemon came down with a bad cough starting last Sunday night, so I was very nervous about leaving him even though he was in excellent hands, with Papa Bear, Nona, and our nanny all on hand to tend to him.
On Wednesday night, I packed nothing (I mean literally nothing--it's been a long time since I flew without a baby!) and early Thursday morning, headed off to Atlanta. The conference was absolutely phenomenal, I loved every moment of it. In the interests of brevity I'll just give you one or two highlights from each day.
On Thursday afternoon, I heard a great talk fro Dr. Samuel Moskowitz about a new method that might help to treat lung infections caused by the bacteria Pseudomonas aerugenosa in CF patients. A big problem with these infections is that inevitably, some of the bacteria survive the antibiotic treatment, and once the antibiotic is gone, they surge back to reestablish the infection. So, Dr. Moskowitz wanted to discover new ways to kill these last few "persister cells" that survive the antibiotic. Based on work from scientists studying a different species of bacteria, Dr. Moskowitz had the idea that the maybe the reason that some of the Pseudomonas cells survive the infection is that their metabolism is running very slowly--and the antibiotics require the metabolism of the bacteria to be active in order to actually kill the cells. So, he tested whether giving the bacteria a jolt of a particular type of sugar could wake up their metabolism and make them susceptible to antibiotics. And, lo and behold it did, at least in a test tube. He's going on to test the method in mice, and if it works there, the next stop will be clinical trials. The nice thing about the sugar is that it isn't toxic to people and their lungs, so in theory it could be a great way to make the antibiotics we're already using more effective, without exposing CF patients to any more toxic chemicals.
On Thursday evening, we had one of the high points of the entire conference, a plenary address by Dr. Michael Boyle, in which he gave an overview of the progress on CF research since the gene that causes CF (the CFTR gene) was first discovered 25 years ago. He likened CF research to climbing Mt Everest, with the summit being a cure for all patients with CF. 25 years ago, we established base camp by discovering the gene, and then we got tangled up in the Khumbu Icefalls which is the complexity of a disease that is caused by over 1800 different mutations in the same gene. Eventually we struggled through the Icefalls and arrived at Camp I, which was the discovery and approval of Kalydeco, the first drug that treats the underlying cause of CF. Now, it looks like we have a pretty clear shot at Camp II, which would be the approval of a drug combination that would treat the underlying cause of CF in almost 50% of patients. It was an incredibly inspiring talk, with a special video guest appearance by Dr. Francis Collins (director of the NIH and co-discoverer of the CFTR gene) and if you have time I definitely recommend watching the recording--you can find it by clicking here and registering.
On Friday morning, the plenary session was entitled "CF Microbiology: Past, Present, Future." It was a great talk (video also available) but in the height of irony I had to keep running in and out of the talk as I was on the phone back and forth with our CF clinic to get an antibiotic prescription set up for Lemon, who's cough wasn't getting any better. We wanted to be sure that we had an action plan in place before the weekend, and since I couldn't do any of the dosing or extra PT at long distance, I took over the prescription ordering.
One big disappointment on Friday that all along we'd been promised that the results of a new gene therapy trial ongoing in the UK would be presented at the conference. On Thursday, we got the hint that the results wouldn't be presented after all, and then in the session where the results were to be presented on Friday, the leaders of the study didn't show up or give a presentation at all. Very frustrating for those who had been waiting with baited breath to hear the findings, but that frustration was overshadowed by really great results from trials of two different drugs manufactured by Vertex, one of which might help Lemon.
On Saturday morning, I heard the talk that perhaps affected my outlook more than anything else I heard at the meeting. It was by Dr. Jerry Nick, on an "N-of-1" study design to look at the effects of Kalydeco in people with residual CFTR function. The basic idea is that, as I mentioned, CF genetics is actually quite complicated. We don't really know what the impact of a particular mutation in a particular person will be, and even now when we usually know both of a person's CFTR mutations, it's hard to predict from that knowledge alone how the course of their disease will go. Part of that difficulty arises because the CF mutations are operating the context of the rest of that person's genetic makeup, and a particular person may have other genes that maybe give them a little bit more CFTR activity than you'd predict from their mutations (if they are lucky), or a little less (if they are less lucky).
So, Dr. Nick started from the premise of saying "Let's care less about genotype (the mutations someone has) and instead just look at function (whether the person has clinical evidence of some CFTR function left). If the person has evidence of a little CFTR function, let's test Kalydeco and see if it works." And, lo and behold, Kalydeco does seem to work in at least a subset of patients with some CFTR function left, even those whose mutations aren't on the current "approved" list for the drug. And, importantly, one of those mutations is one of the ones Lemon has, and when he was diagnosed a key test showed that he probably does have some CFTR function left. In other words, a drug that's already FDA approved for CF could really help him. Now, how to get access to it for off label use--but that's a whole different post.
As a parent, I am so thrilled and relieved and grateful to know that even if CF research stops tomorrow (which, judging from the level of commitment and enthusiasm at the conference, it definitely won't!) there is something out there for Lemon, and probably for a lot more CF patients than are currently taking the drug. I'm even more excited by the momentum that I saw at the conference--many other drug companies have joined Vertex in the quest to find good drugs that treat the underlying cause of CF, and I am so hopeful that in the next 10 years, drugs will get approved that will help Lemon and everyone else with this terrible disease. It was fantastic to have the opportunity to meet the researchers, physicians, nurses, respiratory therapists, and other CF parents (including friends I'd only met online before) who are in this fight with us, and to see how determined we all are. The field has come so very far in the last 25 years, and the future is looking bright. Thanks so much to all of you who have supported our fundraising efforts for the CF Foundation--this is the research you are paying for and it is fantastic!