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"Confetti Skin, Beauty Within" is our blog about ichthyosis and its effect on our lives. Rachel and our three boys are affected with the form of ichthyosis called "icthyosis en confetti, type 2".

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What I learned at the FIRST Patient Support Forum in Dallas

I think I’m just about recovered from my weekend jaunt to Dallas. (If you haven’t done so already, check out the transcript of my liveblog of the FIRST Dallas regional conference.)

But rather than just leave you, faithful readers, to sift through my stream-of-consciousness and typo-laden liveblog, I thought I’d write here about things that I, personally, took away from the Dallas conference. (Also, if you have any feedback for ways in which I could have improved the liveblog, please let me know!)

It’s probably not a surprise that I regard myself as very “tuned in” and knowledgeable about ichthyosis-related treatment and developments. But I, personally, left the conference with a list of things to try on myself or the boys.

1. Hibiclens. Dr. Moise Levy spent a bit of time talking about how bleach baths can be useful for people with ichthyosis — both as a way to control persistent skin infections and odor issues. His slides included (and he discussed) scientific studies showing how even very dilute bleach baths had a measurable effect on controlling recurrent MRSA (methicillin-resistant Staphylococcus aureus) infections. And it stands to reason that similar dilute bleach baths also would be beneficial for people with severe ichthyosis.

We haven’t blogged about bleach baths although we’ve discussed them a bit on Facebook. It’s been a while since I’ve climbed in the bathtub with the boys and added some bleach. But the new idea that I got in Dallas was the notion that spot-treating areas with hibiclens can also control odor without drying out the skin like we have experienced from bleach baths. (My other take-away was that by just sloshing some Chlorox in th bathtub, we may be using a concentration that’s too high. Dr. Levy cited levels of 1-2 teaspoons per gallon, or, alternately, concentration levels of .002% to 0.009% being effective for addressing MRSA issues. So our sploosh of Chlorox was probably way too much.)

2. Foam sanding blocks (from Home Depot / Lowe’s). We’ve been big proponents here about the use of a Dremel on my feet. We also like the heavy, 100/150 grit nail files (we buy ‘em in bulk at Sally Beauty Supply). One of the other conference attendees, though, really likes the sanding blocks that she gets at Home Depot or Lowe’s. She said it’s not sandpaper or a sandblock, but rather is a foam block that’s like the nail file. I’ve seen similar ones for sale at Sally but haven’t really tried them myself. Maybe using the block will make it easier to get at certain parts of my feet or hands (or for the boys). So I’m definitely going to give that a try, too.

3. CeraVe. Dr. Levy cited to ceramide-rich emollients as a “new thing”, and said that although there aren’t any studies comparing them to more traditional emollients, he’s told his patients to give them a try. I remember getting a big pile of CeraVe in the “free sample” bag at past FIRST conferences and being somewhat unimpressed with it, but that’s something I’m going to take a closer look at now.

4. Scalp treatments. Cookie and Monkey are getting more and more scale in their scalp these days. I guess one option is to sit on them and scrub them down in the shower, but I grabbed a bottle of some sal acid shampoo and we’ll give it a try. One of the attendees also was very enthusiastic about coconut oil as something to be rubbed into scalp to control scale; we’ll probably take a quick peek at that, too.

But besides those practical, “Hey I gotta try that” takeaways, I also had some other really important takeaways from the Dallas conference.

The first of these was Dr. Choate’s update. We make no secret of it, Jennifer and I are big fans of Dr. Keith Choate and the work he’s done up at Yale. One of my biggest take-aways was hearing his progress report about the number of families who have been tested through the Gene Discovery Project.

Dr. Choate told the attendees at Dallas that so far, 238 families have been referred to the project, and 185 of them have been screened. Of those screened families, 105 of them had identified mutations within the screening panel. And 53 have been sent for (additional) exome sequencing, 25 have been found to have a mutation in known genes, and there are 28 families in the “discovery cohort”.

Jennifer and I think this is all very exciting research, but it’s also great to hear that as a result of participating in the Gene Discovery Project, 130 physicians have been informed of their patients’ genetic diagnosis.

The second was a pair of reminders about how within the “ichthyosis family” we’re really not alone. Right before lunch, one mother told the attendees about how at times she had to hold her seven-year-old down with her leg while he cries, in order to deal with skin-care issues? My only reaction to that (which you can see on the liveblog) — “Yeah, been there, done that.”

The other side to that coin came about an hour later, when someone with EI shared a story about their dog. I can’t (and won’t) blog about the details of that story, but it’s the exact same sequence of events my friend Kacy shared with me many years ago at a FIRST conference. When Kacy first told me that part of her story I laughed so hard I almost started crying. Saturday’s recitation didn’t bring out the same result — perhaps because there was less shock value hearing it the second time? — but it’s pretty heartwarming to realize that we can share (and have in common) some really improbable circumstances.

Third, I got to meet and connect with some really interesting people. I met an affected individual who is starting medical school this fall, and is interested in going into dermatology. And I met a college student who has an amazingly positive outlook on things — seems to be a recurrent theme within the “family”. And many others, too. And that alone may have made the trip worth the effort.

Finally, a few blog notes. Conversations at Dallas reminded me that there are a lot of people who don’t receive the FIRST newsletter, who don’t read our blog here, and who don’t participate in the discussions online (on Facebook or elsewhere). So to them, news about the free Aquaphor program is new news, as is a discussion about Dr. Williams’ research from 2005 regarding transepidermal water loss and its implications for those of us with ichthoysis, or even news about how many genes associated with severe forms of ichthyosis have been identified within the past decade.

So, I’m sensitive to trying to strike a balance between bringing this “old news” to the attention of new readers, or even old readers that might have missed the first mention. At the same time, though, I don’t want to be talking about the same “old news” over and over again! As always, we welcome suggestions on how to strike that balance, or anything else.

Besides that concern, things that Dr. Levy or other attendees mentioned which are being added to our virtual editorial pinboard are things like skin alkalinity and adding baking soda in bathwater and the use of corticosteroids and anti-inflammatories. I’m also hoping to re-prioritize our discussion about in-vitro fertilization and prelimplantation genetic diagnosis (PGD). But before we get to any of that, starting very soon, we’re going to dive into retinoids. I hope you stay along for the ride!

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