On Saturday, I attended the Patient Support Forum in Mahwah, NJ put on by FIRST, the Foundation for Ichthyosis and Related Skin Types. It was the second of four regional conferences offered this year — the last two are coming up in September in St Louis, MO and San Jose, CA. I had a great time seeing old friends and making new ones. Eleven families attended, plus Mo and Moe from FIRST, Dr. Keith Choate and Dr. Britt Craiglow from Yale (the lead members of the Gene Discovery Project) and Dr. Leslie Castelo-Soccio from Children’s Hospital of Philadelphia. It was great meeting Mo Neville and DeDe Fasciano in person for the first time!
On Saturday morning, I posted a bunch of updates on Facebook. Rachel collected them and posted them here if you want to read. Many of our readers commented, replied or asked questions directly on those updates, and in some cases, those questions were posed at the meeting. It’s amazing how connected our community can be through the Internet and social media.
I’ve finally had a few moments to hide myself from our kids and collect my thoughts, so read on here for my more in-depth impressions of Saturday’s conference.
Dr. Castelo-Soccio opened the morning by talking about the different types of ichthyosis and Dr. Choate followed up with a bit of genetics. Then he got down and dirty into talking about the incredible ichthyosis research projects that are going on out of which we will hopefully see some really good targeted treatments coming in the next decade. After he finished his slides, Dr. Choate opened the floodgates for questions from the crowd. We launched into a extended discussion on the safety and use of retinoids, salt and baking soda and bleach and vinegar as bath additives and what those things actually do, a little bit on mosaicism – ichthyosis that affect small parts of the body while other parts are unaffected, and most fascinating, what his research has found so far and where it is heading. The growth in our understanding of skin science has been driving a big change in the sorts of targeted treatments that will be available in the future.
Rachel and I have been working on several posts about retinoids, which is a very complicated topic, but one interesting thing that I wanted to mention right away is that there were two ladies in the room who have been on isotretinoin (also known as Accutane and other names) for 30 and 42 years! One said that she stopped the medication to have her children, and the other started after she was in her 30’s. All three doctors said that they monitor the dosing and potential side effects of their patients on isotretinoin very closely to watch for side effects such as bone or lipid changes.
Dr. Choate added that every patient has different dosage needs, and he said that it’s a bit harder to work out the dosages for patients with epidermolytic ichthyosis, formerly known as epidermolytic hyperkeratosis (EHK). Apparently, it’s harder to work out the “right” dosage as compared to patients with lamellar ichthyosis or CIE or other forms of autosomal recessive congenital ichthyosis (ARCI), because for patients with epidermolytic ichthyosis, higher dosages of the systemic retinoids can make the skin too fragile. He also mentioned that isotretinoin has been instrumental in helping newborns with harlequin ichthyosis (the most severe form of ARCI) shed their initial thick layers of skin.
As for research, Dr. Choate said that researchers are now able to identify specific mutations and do work just on that one type. Once upon a time, someone might have asked for people with lamellar ichthyosis for a study. Now, they can ask for just those with a TGM1 mutation or an ALOXB12 mutation and tailor what they are doing to people missing that specific enzyme (or skin lipid or other body chemicals), versus trying things on everyone and finding that it worked on some but had no effect on others. This isn’t just theoretical, either. One current study (underway at Yale and St. Louis) is a Phase II clinical study of a cream that is supposed to replace the missing enzyme in Netherton’s syndrome (Click the link if you’re interested in trying it). Another was done a while ago with a chemical called n-acetyl-cysteine. And Dr. Paller’s and Dr. Roop’s research are targeted specifically to KRT10 mutations. And the list should grow as time passes. It’s really very exciting — this new research is all about finding and treating the root cause of the ichthyosis instead of just managing the symptoms.
At the same time all this fantastic research is becoming possible, we are facing serious cuts in science research budgets from Congress. Dr. Choate said that with the current budget cuts planned for the National Institutes of Health (NIH), he will lose funding for one of his staff members. And it’s possible that if NIH funding is cut even further (as has been mentioned in some budget plans), he could have to cut even more. It’s not just Dr. Choate’s lab at risk, either. Cutting all these grad students now means many of our up-and-coming ichthyosis researchers will have to find other projects if there’s no money to fund them.
In the afternoon, we broke into groups and discussed more practical issues relating to life with ichthyosis. We focused on baths, laundry and school, splitting into groups of parents and teens. Most of the attendees had school age kids or older, but two had preschoolers and two (including me) had a child entering kindergarten this fall and had concerns about jumping into the schools. One mom talked about her nightmare of a year at high school with an unsympathetic principal despite having an established 504 plan, while several of us talked about elementary life and getting things started at school.
Several moms said that they use Dawn dishwashing soap in their washers to keep the Aquaphor and other lotion buildup under control. Some people said they used a small squirt, others said a cup or even 1/3 of the bottle per load! This brought up the question of suds exploding out of the washer, which I know we talked about last week. But then I suddenly realized that the fats from the lotions would stop the bubbles – just like if you try to do a bubble bath with affected kids, the bubbles quickly pop because of all the lotion in their skin.
Speaking of baths, Dr. Choate joined our discussion about whether bleach or salt or baking soda were helpful or not. He said that when these things aren’t helpful, it might be a pH issue — that we’re not adding enough or are adding too much to make a difference in the water’s pH. He has promised to post recipes for bath additives on FIRST’s blog sometime soon.
All in all, it was a great chance to talk, both shop and socially. Check out Mo’s post from Saturday on FIRST’s blog, too. I really enjoyed myself and look forward to seeing everyone again!