Dr. Keith Choate from Yale just wrapped up his presentation at the #FIRSTNFC First Family Conference in Indianapolis. Dr. Choate gave the conference attendees a update about the amazing progress he and his team at Yale have made on the Gene Discovery Project.
Dr. Choate mentioned that they started doing gene discovery at FIRST family conferences literally in a coat closet at the 2010 conference in Orlando, Florida. And since then, they’ve grown by leaps and bounds. Including the 35 families recruited here in Indianapolis, they’ve recruited 375 total families.
So far, they’ve been able to get a genetic diagnosis for 247 of those families. And since the Denver conference in 2012, they’ve identified three new genes which cause ichthyosis.
Continue reading 2014 Ichthyosis Conference – An Update from Dr. Choate
After writing the last entry, I collapsed in bed to get a whole…um….five hours of sleep before my alarm went off at 6:15. By 7, I was back in the clinic, helping families get to their appointments. This morning was even more challenging than yesterday. Many flights came in during the wee hours of the night, resulting in tired, hungry kids and late appointments. Despite the chaos (relative to yesterday), we still managed to get done by 10:30.
Unfortunately, I missed most of the keynote speaker’s address, who was Rick Giudotti, Rick Giudotti is the founder of Positive Exposure, a non-profit devoted to normalizing people with visible disabilities in the media as well as encouraging positive self-esteem in affected people. My friend Carly has talked extensively about him and has also had a photo session with him.
Rick is amazing. One of the things he said, and we think this is really important, is that our skin is not all there is to us. And doctor photos, with the black bar across the eyes and close-ups of arms and legs, are really dehumanizing. We are people first, and when we realize that, we have empowered ourselves.
After the keynote, we all wandered up to different rooms to talk about dealing with the different varieties of ichthyosis. I ended up in the “Ultra-rare varieties” room with two other Confetti families, a couple Sjogren-Larsson families, someone with Darier’s a family with EKV and a family whose daughter had CHILD syndrome. It was great to have such a small group. We got to talk with Dr. Milstone and Dr. Rizzo about the future of research and real treatments and cures. We talked about how hard it is to get drugs through the FDA approval process, how orphan drugs work, what differences there are between metabolic drugs, siRNAs, and retinoids.
If you have questions that you would like asked, post them in the comments.
Wow! What a great day!
We arrived in Indianapolis yesterday afternoon after a 5 hour ride with some beautiful sunshine, only to have the heavens open on our heads as soon as Rachel ducked out of the car. Fortunately for the rest of us, parking was in the garage and the entry to the hotel is under a roof, so we were all spared the midday bath as we unloaded our suitcases. We chilled out in the hotel and spent an hour diving for pool toys in the awesome salt water pool. I had no idea that salt water pools were so slick on the bottom! Monkey skidded across the floor and hit his head, but luckily he wasn’t injured.
Today, I headed over to the conference War Room early in the morning with Cookie. At 9:30, no one was there quite yet, but 24 tables all loaded with overflowing boxes of creams and shampoos and beeswax greeted us. Cookie and I dove right in, cutting all the tape and removing all the shrink wrap from dozens of bottles of every imaginable product. We were about an hour and elbow-deep into boxes of eyedrops when Moureen Wenik, her daughter Saige and Jean Pickford arrived. They jumped right in with us. It took until almost noon to open everything! We had empty boxes piled four feet high in the corner! We were just finishing when the rest of the FIRST staff appeared after their morning flight.
War Room – Indianapolis Ichthyosis Conference
Once everything was opened, everyone took reusable shopping bags and loaded each one with all the goodies. We added the conference shirts and lined them all up on the floor. I hear there are 407 people attending this conference – over 120 families!
Mo Wenik and team, filling goodie bags!
About 2:30, Cookie took off with Rachel and the other kids to head back to the pool. I went up to the clinical screenings and spent the rest of my day helping families get where they needed to go. Dr. Choate’s spouse and several local medical students helped out with keeping the train running on time between keeping track of who needed to be in which room, registration, photography, and sitting in with the doctors. It was like Musical Chairs. Every 20 minutes, my alarm went off and the three of us knocked on all the doors to let everyone know they had 3 minutes to finish up. Then we’d guide everyone off to their next part of the appointment. Several late planes and some crazy traffic made this particularly challenging. It was like a quick taste of what it is like to be a doctor’s receptionist.
Erin Loring from Yale, with Drs. Craiglow, Lucky, Milstone and Choate during the pre-clinical game plan session.
Medical resident Elizabeth Peacock with her mentor, Dr. Haggstrom
Finally, everyone finished. Only 30 minutes later than scheduled, which was not bad! I went down to the lobby and ran right into a bunch of old friends. Shannon and her daughter were chilling on the couch, Hunter came in and they ran into another family – Denise and her son were all grouped together right at the entrance, and many others were chatting in groups here and there. I had to get to bed so I couldn’t stay as long as I liked, as tomorrow I have to be back up on the clinical visit floor right at 7am. But I did get this great picture of Hunter, Lauren and Brian!
Lauren, Hunter and Brian
Time to CRASH!! We will try to update tomorrow!
I apologize for having vanished from our forum. Our life has gotten a bit crazy since the new year. Cookie picked up a bully early in the school year (not ichthyosis-related; this kid and his two hangers-on are generally obnoxious to everyone in the class, including the teachers.) Anyway, this has caused his natural tendency to worry to turn into full-blown anxiety, so my time has been mostly offline lately.
I’m trying to spend more time in the classrooms and helping him cope with his anxiety. Here I am teaching a lesson on sound with his 5th grade class.
This is Monkey’s Chinese dragon for their annual 2nd grade parade.
In addition, I’ve taken on the older half of Kitty’s Girl Scout troop and they have been working on their Bronze Award since late February. This involved 2 straight weeks of counting change every night for their fundraiser – they raised $700, and most of that was pennies! This bucket holds about $350 worth. It was about 80 pounds to lift. I took it to the bank, then the girls refilled it!
Additionally, we’re working on Monkey and Momo’s reading skills. Rachel is in the middle of a big case at work, so she pretty much left me to take care of the babies – of which this blog is one!
Ichthyosis has fallen fairly low on our priority list for the moment. I’m involved with one of the FIRST planning committees and still active on Facebook, although less so lately. We took the train up to see Dr. Choate and his team in February, and we’re really looking forward to the conference in June. I really was planning to write about a bunch of stuff, but I keep finding myself asleep on the couch at 2am instead of blogging after the kids go to bed.
After we got back from Yale, we hosted a get-together for affected families. It was one of the many flooding weekends so several people ended up unable to make the trip, but we had a great time with our friends Darcie (that’s her son making his mom buy cookies off my daughter), new friends Victoria and Robert and their sweet baby, and our friend SooAnn, who brought one of her boys along.
Rachel’s mom and dad came for Easter. They were here for a week over Spring Break. We went to Monticello for a day and had fun on a nice, cool mountain spring day. Here’s a picture of the whole family from Easter.
We got Momo his own version of Monkey’s awesome bike a few weeks ago. He’s not quite able to push the pedals that well yet. He needs another inch or two, but he’s excited!
Rachel had a birthday. She wanted a Rainbow Dash cake. The middle is marbled rainbow, although I suck at drawing anything with frosting. She loved that I even attempted it. Kitty had a birthday, too, but her friends are in all the pictures and I need to get permission to share them.
She’s still on isotretinoin and not having problems with side effects, but her skin has gotten pretty fragile and she now leaves a trail of flakes everywhere. On the plus side, she can walk and her bath routine is a lot shorter.
Two weeks ago, we went camping. 4 of my scouts went along. Here’s Kitty trying out archery and one of the other Juniors waiting her turn. They also got to canoe and we met a poisonous snake living under the woodpile by our campfire. It made for an exciting weekend!
Finally, this past weekend, I took Cookie out to the caves along Skyline Drive. We walked through a huge garden maze and into two different caverns. He asked me to take a picture of this spot in the caves in particular. He told me that it looks just like the giant organ at Yale in Woolsey Hall, where he got to hear Mahler 2 when we were up there in February.
Whew! So, that’s what’s up with us. Anything interesting going on in your corner of the world?
I’m starting my fourth month on isotretinoin (also known as Accutane and other names) and I’ve run into a bit of logistical problems. Thanks to a combination of expiring prescriptions and me leaving the refilled prescription at home before I left for the week, over the past two weeks I only took the medicine on three nights.
Rachel’s hand, 2/7/2014
I’ve noticed a real change in my skin over the past few days. It’s harder for me to walk without feeling a bit of pain in the evening, and it’s difficult for me to straighten out my hands. (I guess I don’t have to worry about my wedding ring flying off my finger.) But the most noticeable change for me has been the peeling on my hands. They itch, and, combined with the return of lack-of-flexibility and the “usual” feelings that come along with winter dryness, it’s a pretty unpleasant reminder for me.
(I’ve also noticed the palms of my hands feeling a bit rougher than before. In the shower this morning, I used the big black nail file on my hands for the first time in a few months.)
I ran out of isotretinoin pills two weeks ago, and my dermatologist (understandably) didn’t w ant to refill the prescription until she saw my latest blood work. (Last months, my triglycerides were borderline high.) The good news is that as of a couple of weeks ago, my triglycerides are back within the normal range. Back in November, I was musing about how much more improvement I’d see in my feet at my current dosage, so I actually wanted to increase my dosage to see what would happen. My previous dosage was around 0.6 mg/kg/d, and so we agreed to bump my dosage up to 0.7 mg/kg/d to see if I would notice any change.
Unfortunately, I only took the slightly higher dose for three days before I left the house, forgetting the pills. My guess is that the three nights at the higher dose wasn’t enough to maintain the level of isotretinoin in my system, so I’m starting to lose the benefit of the medicine. I’ll start on the pills again tonight, and my guess is that I’ll wind up going through a full-body peel again.
Really, I only have myself to blame for this discomfort. I didn’t want to go through the trouble of trying to get my dermatologist and pharmacist to put in a new prescription for me (I suspect that there would be IPLEDGE headaches, so I didn’t even try).
Last night, I spoke with Cookie on the phone. I complained about my feet hurting. “Me, too,” he said. And that certainly keeps things in perspective for me as I grumble about my own skin.
Let’s talk about honey!
There’s an awful lot of hype on the internet. Every day, I see an article or two posted by some well-meaning soul on Facebook, or sometimes a sidebar ad on a news article from someone trying to make a profit on the latest fad. Magic water. Coconut oil. Magic ear candles. Magic Tahitian fruit juice. Chelation therapy. Detox this and detox that. The list just goes on and on.
So what’s real? How can we tell what really works when even things that have real benefits get touted as the latest magic cure-all with all sorts of imagined benefits concocted by someone trying to sell us something?
First clue: Any website that starts off with “What doctors don’t want you to know!!” and a rant about BigPharma is probably not a good resource. Especially if whatever is on the page somehow cures cancer.
Second clue: “Sign up for our mailing list in order to get the magic cure!” Or better, “Buy our book!” And best yet, “It’s lemon juice! Only $96.99 a bottle!” Dude. Lemon juice is $4 at the grocery store. I can get a bag of lemons and squeeze them myself for much cheaper, too.
Sometimes, these claims are out and out snake oil. Other times, there’s a grain of truth that’s been magnified into a magic cure. And once in a while, whatever is being touted actually works.
So, which category does honey belong in? Read on to find out.
Continue reading Honey and Healing?
Last week, Rachel wrote about the warning labels on the brand of isotretinoin (also known as Accutane and other names) that she’s been taking for the past three months, along with Monkey’s interesting interpretation of what one of the warning graphics meant.
Both Cookie (age 11) and Monkey (age 8) have noticed the improvement in Rachel’s skin since she started taking isotretinoin, and when we’ve told them that Rachel has been “taking those pills for her skin”, they’ve naturally been curious: should they be taking, them, too?
The answer, in our opinion, is a resounding “NO!” We believe that our children absolutely shouldn’t be taking isotretinoin (Accutane). Here’s why.
Continue reading Isotretinoin is NOT for Children
Monkey, now eight years old, saw my packet of isotretinoin pills (also known as Accutane and other names) on the kitchen counter this weekend. He asked Jennifer, “Momma, what’s that?”
“Well, honey, take a look at the picture. What do you think it’s telling you?”
He scrunched and wrinkled his face as he thought about it. “Um, it means that fat people shouldn’t take those pills?”
“That’s…that impression actually kind of makes sense. And yes, I suppose there might be some medicines that overweight people shouldn’t take. But, no. Those are the pills that Rachel’s taking and the picture tells us that women shouldn’t get pregnant when they’re taking that medicine.”
One of the things that made a big impression on me when I started on isotretinoin was the medicine packaging, and how annoying it was to fill the prescription and pry open the packaging. Read on for why that’s so.
Continue reading Isotretinoin Packaging: It’s Not For Who?
During the past couple of months, have you been keeping up with what FIRST, the Foundation for Ichthyosis and Related Skin Types, has been doing online?
Things are ramping up for FIRST’s 2014 Family Conference in Indianapolis, from June 20-22. FIRST published some new Youtube videos — there’s a long version and a short version — where parents and other affected folks and some of the medical professionals talk about why you should attend (and what to expect). If you haven’t seen it yet, it’s definitely worth the time to check out. We will definitely be in Indianapolis, and here’s why. We hope to see you there, too!
And just yesterday, on the FIRST blog, there was a post from Tracie Pretak and her daughter Bailey about their experience — and inspiration — at prior conferences. Make sure you check out Bailey’s video, too.
Back in November, FIRST took a trip up to Yale to meet with the research team up there, and during the holidays, FIRST published a long writeup about their visit to Yale. In addition to interviews with and pictures of the team, there are also some comments from the patients, including from our friend De Fasciano about her son Evan, who’s affected with harlequin ichthyosis, the most severe form of autosomal recessive congenital ichthyosis (ARCI). (De blogged about her interview, too.) I know our own family was very busy when this article was first published, and we almost missed it amidst our own holiday scramble.
Continue reading In Case You Missed It: Recently From FIRST
Dakura, Kweku and Amotale live in Jirapa, Ghana. Last month, a Ghana News article about them received a lot of publicity. Unfortunately, the headline of the article called them “alligator children” and concluded, “The children are seen as outcasts. People around perceive them as evil, but the mother is seeking help for her children.”
While the news article is vague about the “strange skin disease” afflicting these children, based on the pictures of the children and a description of their symptoms, it’s pretty clear to us that the children probably have a form of lamellar ichthyosis, a form of autosomal recessive congenital ichthyosis (ARCI), just like our friends Kyriaki and Jeff. But unlike our friends, these children don’t live in a developed country.
After seeing the Ghana News article, I found the Facebook page mentioned in the video and on Friday morning I interviewed a nurse from Colorado who is in Ghana right now, trying to help these children. In some ways, it is amazing how small our world has become — it was really easy for me to locate and chat with a lady in a dusty village in Africa. Yet at the same time, the world is so large and some problems are so great that I feel powerless, knowing that these kids have been living untreated for ten years or more.
Continue reading ARCI in Africa: Meet Dakura, Kweku and Amotalé