Confetti Skin, Beauty Within http://confettiskin.com/wp Navigating life with ichthyosis Tue, 28 Oct 2014 21:50:43 +0000 en-US hourly 1 http://wordpress.org/?v=3.9.7 2014 Ichthyosis Conference – An Update from Dr. Choate http://confettiskin.com/wp/2014/06/21/2014-ichthyosis-conference-an-update-from-dr-choate/ http://confettiskin.com/wp/2014/06/21/2014-ichthyosis-conference-an-update-from-dr-choate/#comments Sat, 21 Jun 2014 14:53:46 +0000 http://confettiskin.com/wp/?p=47771 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 [...]]]> 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. choate-20140621

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.

Part of the story of the Gene Discovery Project is the story of how advances in genetic sequencing technology has made genetic diagnoses faster and cheaper. Of the 247 families who were able to obtain a genetic diagnosis from Dr. Choate and his team, 70% of them were able to get that diagnosis through their “pre-screening” process, which looks at the 11 most common genes that cause ichthyosis. This “pre-screening” test now costs the Yale lab between $30 and $50 dollars, which is a huge drop in costs from a decade or so ago.

(The remaining 30% of the diagnoses were obtained through the fuller exome sequencing technique.)

Unfortunately, these diagnoses aren’t CLIA-certified, so patients still need to obtain a confirmation of the diagnosis from a CLIA-certified lab like GeneDX. Dr. Choate mentioned that while insurance doesn’t cover that confirmation at first, it can be covered in part when the insurers are informed about the significantly lower cost when compared to traditional testing methods.

The work that Dr. Choate and his team are doing is important because this kind of research is teaching the scientists so much about ichthyosis. Learning more about the specific genetic causes of ichtyosis will enable future research to develop effective therapeutic pathways for treating ichthyosis.

Dr. Choate explained to the audience, “I believe that genetic information is going to become relevant to your therapy.”

For instance, Dr. Choate observed that of the patients who had a diagnosis of epidermolytic ichthoysis, about 75% had KRT10 mutations correlated with gradations in the severity of their symptoms. About 14% had KRT1 mutation and the remainder had KRT2 mutation

Likewise, the ABCA12 gene was previously commonly thought to be solely the cause of Harlequin ichthyosis, the most severe form of autosomal recessive congenital ichthyosis (ARCI). But we now recognize that milder mutations in ABCA12 can cause what we call CIE. Dr. Choate explained, “I think that we’re going to move from definitions of ichthysois from the old terms, to inheritance-based terms.”

Learning about the research that’s going on is very exciting. Dr. Choate’s hope is that everyone in the ichthoysis community will be able to obtain a genetic diagnosis. And that genetic diagnosis will lay the foundation for developing  effective therapies in the future. The future is bright!

 

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2014 Ichthyosis Conference – Day 2, Morning http://confettiskin.com/wp/2014/06/20/2014-ichthyosis-conference-day-2-morning/ http://confettiskin.com/wp/2014/06/20/2014-ichthyosis-conference-day-2-morning/#comments Fri, 20 Jun 2014 21:53:42 +0000 http://confettiskin.com/wp/?p=47679 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 [...]]]> 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.

#FIRSTNFC

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2014 Ichthyosis Conference: Day 1 http://confettiskin.com/wp/2014/06/20/2014-ichthyosis-conference-day-1/ http://confettiskin.com/wp/2014/06/20/2014-ichthyosis-conference-day-1/#comments Fri, 20 Jun 2014 04:39:17 +0000 http://confettiskin.com/wp/?p=47579 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 [...]]]> 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

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!

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.

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

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

Lauren, Hunter and Brian

Time to CRASH!! We will try to update tomorrow!

#FIRSTNFC

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Neglected and Unloved http://confettiskin.com/wp/2014/05/20/neglected-and-unloved/ http://confettiskin.com/wp/2014/05/20/neglected-and-unloved/#comments Tue, 20 May 2014 22:45:53 +0000 http://confettiskin.com/wp/?p=42578 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 [...]]]> 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.

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This is Monkey’s Chinese dragon for their annual 2nd grade parade.
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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!2014-05-01 12.03.00
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.

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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.

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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!

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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.

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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!

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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.

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Whew! So, that’s what’s up with us. Anything interesting going on in your corner of the world?

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Rachel’s Isotretinoin Log: Month 4 http://confettiskin.com/wp/2014/02/07/rachels-isotretinoin-log-month-4/ http://confettiskin.com/wp/2014/02/07/rachels-isotretinoin-log-month-4/#comments Fri, 07 Feb 2014 18:31:00 +0000 http://confettiskin.com/wp/?p=28387 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 [...]]]> 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

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.

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Honey and Healing? http://confettiskin.com/wp/2014/02/05/honey-and-healing/ http://confettiskin.com/wp/2014/02/05/honey-and-healing/#comments Wed, 05 Feb 2014 18:28:13 +0000 http://confettiskin.com/wp/?p=9985 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 [...]]]> Let’s talk about honey! Honeycomb

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.

Honey has a very long history.Honey! Cave paintings from 6,000 years ago in Spain depict people collecting honeycombs from hives. It was actively cultivated at least as far back as the First Dynasty of the Egyptian Old Kingdom. Even then, it was used in medicines and ointments as well as for sweetening food. And honey was known back then for its wound-healing properties.

A quick internet search tells me that honey is now supposed to be a wonder cure. According to random websites that are now selling honey — surprise, surprise! — eating it, smearing it on your skin, mixing it with apple cider or cranberry juice or cinnamon can do everything from make you live longer to cure diabetes and cancer. Whoa!

So how credible are those claims? You know those banner ads that tell you that doctors hate for you to know the magic weight loss secret they are selling? Or the ones that tell you that you can earn $15,000 a month from stuffing envelopes? The ones that prey on the gullible and desperate? Yeah….just, no.

But honey really does have wound-healing properties. There are a bunch of studies trying to figure out exactly how honey works. (Here are some links if you’re boredYes, I read them all.)

As I see it, scientists have found that honey has four effects when used on top of the skin:

  1. High osmolarity. There’s so much sugar in honey that it literally sucks all the water out of bacterial cells, making them shrivel up into little raisins.
  2. Suffocation. Again, honey is so thick that oxygen in the air doesn’t penetrate very well, so the bacteria don’t get enough oxygen to metabolize.
  3. Hydrogen peroxide. There’s an enzyme in honey that makes hydrogen peroxide, which, when exposed to bacterial cell walls, makes the bacteria pop like a squeezed  pimple.
  4. Low pH.  If you have, say, a skin bacteria that is used to functioning on skin at a just slightly basic pH of 7.6, slapping pH 4 or so honey on top of the skin slows down the ability of the bacteria to metabolize and reproduce. It’s like trying to function in the morning without coffee.

Bottom line, these studies are showing that honey kills bacteria and can reduce skin inflammation. And because of the way the honey is killing the bacteria (it’s not an antibiotic), it can be really helpful for people with antibiotic-resistant skin infections.

But pay attention — all of that beneficial stuff I just listed comes from using honey on top of the skin. It’s a different question altogether as to what honey might do for you when you eat it.

So for diabetes? Sugar is as sugar does. The glucose in honey is the same glucose you get from table sugar. The fructose in honey is the same fructose you get from fruit sugar. If you can’t control your sugar levels because insulin and glucagon are not released when sugar levels change, adding more sugar isn’t going to fix the problem. There are apparently some rodent studies that suggest that honey might have some impact on diabetes control, but that is NOT, and I repeat, NOT, the same thing as curing diabetes. Remember the claim, “doctors hate us for this secret”? Yeah. Doctors would be all over curing their patients if this had some real evidence behind it.

What about cancer? Same thing. No evidence in the literature outside of “maybe…” might be…” and “preliminary studies suggest that…” Basically, the best we have is that honey MIGHT help in when combined with radiation and chemotherapy. No study with an ounce of credibility suggests that replacing chemotherapy with honey is a viable therapy. (I’ll let you compare the claims of the “honey is the magic cure!!” websites to the actual scientific articles.)

And finally, living longer. Well. I guess you could try. How would you know if it worked? I guess you’ll find out in 40 years…

Taken orally, any effect honey might have on long life, cancer, joint health, headaches, allergies, or whatever other claim you might hear means that it has some mystical component that survives the entire digestive process AND has a receptor on the cells that you’re trying to heal with the mystical component AND that you ingest enough for it to make a difference. Anything less is a placebo effect. It’s mostly harmless if you want to try to live longer, but mistaking honey for a serious asthma treatment could shorten your life quite significantly! Not only that, but the watered down, pasteurized cheap honey bears in the grocery store are NOT the same thing as pure honey like you get from a local beekeeper. Even the medical studies only focus on one variety of honey, a type called Manuka from New Zealand.

WebMD does a nice job of summing up some of the other known effects of honey, such as using it as a cough syrup. For those of us with ichthyosis who are fighting regular MRSA infections, talk to your doctor before you try it (all that sugar might aggravate yeast or other things particular to you, and honey should never be given to babies under a year old because it can make them very sick), but slathering on a bit of honey might actually be a solution for some people.

Photo credits: HoneyHoneycomb

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Isotretinoin is NOT for Children http://confettiskin.com/wp/2014/01/28/isotretinoin-is-not-for-children/ http://confettiskin.com/wp/2014/01/28/isotretinoin-is-not-for-children/#comments Tue, 28 Jan 2014 20:10:54 +0000 http://confettiskin.com/wp/?p=28048 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 [...]]]> 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.Claravis (isotretinoin / Accutane) packaging

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.

What we understand to be the most recent and definitive peer-reviewed article about the use of systemic retinoids like isotretinoin (Accutane) is very clear on this issue. In that article, published in the January/February 2013 issue of Dermatologic Therapy, Dr. DiGiovanna and his co-authors are unambiguous:

Because retinoids can affect growing bones, including epiphyseal fusion, initiation of retinoid treatment should be delayed as long as practical.

See DiGiovanna, J. J., Mauro, T., Milstone, L. M., Schmuth, M. and Toro, J. R. (2013), Systemic retinoids in the management of ichthyoses and related skin types. Dermatologic Therapy, 26: 26–38. doi: 10.1111/j.1529-8019.2012.01527.x. (Dr. DiGiovanna and his co-authors on that paper, Drs. Mauro, Milstone, Schmuth and Toro are all members of the Medical & Scientific Advisory Board of FIRST, the Foundation for Ichthyosis and Related Skin Types.)

Similarly, FIRST’s publication, “Release the Butterfly: A Handbook for Parents & Caregivers of Children with Ichthyosis” (3rd edition 2011)*, cautions:

Because retinoids may cause significant effects on bone development, their use in children who are still in their growing years requires careful consideration. Regardless of age, periodic X-rays to monitor bone development are essential.

Pretty definitive, right?

Let’s unpack what’s going on. Both the scientific paper and the FIRST guide acknowledge that systemic retinoids might be necessary for some children. But both very carefully caution that children on this class of drugs should be carefully monitored, and that bone development issues are very important to consider first.

Why do parents of children with severe ichthyosis considering systemic retinoids need to think about bone development issues differently than an adult like Rachel, who’s been on isotretinoin (Accutane) for almost four months now?

Isotretinoin is a synthetic form of retinoic acid. Retinoic acid is found naturally in the body and is used by our bodies for a bunch of things. One of retinoic acid’s actions is to regulate bone growth. Specifically, it causes bone cells to grow and calcify. Normally, this is happening all the time — bone calcium leaches out into the blood and is replaced by new calcium. But one of the side effects of isotretinoin is that it can unbalance the leaching/replacement balance. That means that some adults taking isotretinoin (Accutane) can develop bone spurs. But it also means that children taking it might wind up with prematurely fused growth plates.

A growth plate, or epiphyseal plate, is a section in the ends of bones in a child that is mostly cartilage. When kids are born and growing, the bone cartilage grows longer on the ends, and the older cartilage nearer the middle of the bone gets replaced with calcified bone. This process starts before birth and continues anywhere from 14 to 25 years old, when the entire bone hardens.

So when Dr. DiGiovanna et al. are writing about isotretinoin (Accutane) causing “epiphyseal fusion”, they’re talking about isotretinoin causing bone cartilage to calcify before it should. At its worst, systemic retinoids like isotretinoin can cause kids’ bones to stop growing.

I wasn’t able to locate a lot of reported cases of growth plate closure in children taking systemic retinoids (probably because, unsurprisingly, there aren’t a lot of children taking systemic retinoids in controlled studies). But even teen cases are limited in the scientific literature. One is a case of a 16 year old teen using isotretinoin for several months. His knee bones hardened and that caused joint pain. He went off the medicine and the problem resolved. He was only taking .5 mg/kg/day — slightly less than what Rachel is taking now.

In another article, 18 teens given isotretinoin for acne developed slowed bone growth in the growth plates while being treated (interestingly, the same study observed that the no-longer-available systemic retinoid etretinate, also known as Tegison, was not associated with those bone issues).

Another is a case of a 6 year old child with cancer who received a bone marrow transplant and a retinoid, and it resulted in permanently short stature, presumably from the retinoid. From another study of kids with the same kind of cancer, it turns out that 29% of the kids given isotretinoin as part of their treatment have bones that appear older than their age.

One study, done on guinea pigs, involved giving them different doses from .5 to 5.5 mg/kg/day, and found that the amount of epiphyseal growth plate hardening was dose-dependent. That is, the stronger the dose the guinea pigs received, the faster their bones stopped growing.

Bottom line, my gut instinct is to keep our kids away from oral retinoids like isotretinoin (Accutane). Even with the difficulties our kids have with walking in winter, among other difficulties, I don’t think that’s enough to justify jumping into retinoid use with them. The risks extend beyond stunted growth, too. There are always the other risks – the high triglycerides, the bone thickening, the depression and other reported side effects to worry about. While they might not happen to everyone, why take the chance when manual skin management is working out fine for us?

Once they are adults, they can revisit this decision for themselves.

Next time: more on the intricacies of retinoids.
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* I was one of the editors of the Second Edition (2006) of this FIRST guide.

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Isotretinoin Packaging: It’s Not For Who? http://confettiskin.com/wp/2014/01/22/isotretinoin_packaging/ http://confettiskin.com/wp/2014/01/22/isotretinoin_packaging/#comments Wed, 22 Jan 2014 13:00:50 +0000 http://confettiskin.com/wp/?p=28027 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 [...]]]> 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?”Claravis (isotretinoin / Accutane) packaging

“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.

Claravis (isotretinoin / generic Accutane) packaging

The packaging for Claravis, the brand name of the isotretinoin made by Barr Pharmaceuticals, is pretty eye-catching. It’s a lot more packaging than my usual prescriptions; I’m used to getting just a bottle of pills with a printed insert.

Each month’s supply of Claravis that I’ve received comes in a big box, with thee inner blister-packs of 10 pills. Both the big box and the blister packs have printed in big red letters, “PATIENT: READ INFORMATION CAREFULLY“.

Claravis (Isotretinoin / Accutane) product information sheet

Here’s the printed information sheet (unfolded) that comes with the medicine. It’s printed in teeny-tiny lettering on both sides. I’ve included a jar of Cetaphil  in the shot (off to the side) so you can get a feel for how big this thing really is, and how microscopic the print is. Folding and unfolding the sheet evokes memories of wrestling with roadmaps on long car-trips in the days before GPS.

And just in case you misplaced the sheet, or perhaps if you wanted to wallpaper a room with them, there’s a copy of that roadmap stuck on the inside of each blister pack in addition to the copy that comes inside each big box.

Over to the right is a picture of the outside of the 10-pill blister pack.Claravis (isotretinoin / generic Accutane) blister pack - outside packaging

The front has the picture which Monkey asked about, which very helpfully reminds you, “CAUSES BIRTH DEFECTS” and “DO NOT GET PREGNANT”. And, apparently to make sure you get the point, the “NOT FOR FAT PEOPLE”, scuse me, I mean “NOT FOR PREGNANT WOMEN” graphic appears on the punch-out backer for each pill.

So as you might imagine, for me, extracting the pills from the blister pack each night is an exercise in adaptive equipment. Before I started on the isotretinoin, ripping off the cardboard cutout and peeling back the foil and then pushing the pill through the opening was exactly the kind of fine-motor manipulation requiring finger strength that I have the most trouble with. And even with the increased finger flexibility I’ve experienced on the isotretinoin, it’s not easy. Our solution has been for Jennifer to prepare each package for me by (slightly) bending back each blister, and for me to finish the process with the use of some adaptive equipment — usually, a pair of pliers and a small pocket knife.

There are more annoying logistics, too. I can only fill a single 30 day’s supply of Claravis each time, so that means I need to head back to the dermatologist each month. Each time, my dermatologist’s nurse needs to call in the order. Both the dermatologist and the pharmacist have the be on the electronic “iPLEDGE” system, and I had to sign a bunch of paperwork on that system before I could get my first set of pills.

Fortunately, since I’m not considered to be a woman “of childbearing potential”, I don’t need to take monthly pregnancy tests at my dermatologist’s office, nor have I been under the requirements to use two separate forms of birth control. But women who could potentially get pregnant have that added layer of annoyance. The iPLEDGE system is designed so women “of childbearing potential” have their (negative) pregnancy test results recorded by the pharmacist before they get their month’s supply of isotretinoin.

It’s a very burdensome system. And ironically, only isotretinion (Accutane) falls under the rigid iPLEDGE system. Other systemic retinoids like acitretin (also known as Soriatane and other names) also can cause birth defects, but aren’t subject to the isotretinoin-specific regulations.

Accutane’s been on the market in the U.S. since 1985, and the iPLEDGE system has been around since 2006. If you’ve been keeping up with our blog posts about retinoids and isotretinion, you know that isotretinoin isn’t just used to treat severe ichthyosis. It’s common use is to treat severe acne, and one source I saw asserts that over 16 million people have gotten isotretinoin (Accutane) prescriptions.

And of those folks, there are many who have filed lawsuits. The same source (which I’m not linking to, since it’s a bit click bait-y) claims that there have been over 7,000 lawsuits filed. Would it surprise you to hear that many of those lawsuits are still pending? In New Jersey, the home of Accutane’s original maker, Roche Pharmaceuticals (now Hoffmann-La Roche), they’re handled as “mass tort” claims, and the list of New Jersey Accutane lawsuits as of January 2014 is 152 pages long. (The most recent individual suit on the list was filed on January 13, 2014.) There are also apparently large numbers of Accutane lawsuits in Pennsylvania.

On the federal-court level, the cases were consolidated for pretrial proceedings before a federal judge in Tampa, Florida. The full case cite is “In re: Accutane Products Liability Litigation, MDL 1626. Master Case #8:04-md-2523-T-30TBM (M.D. Fla).” I looked up the case and just the docket sheet (the case index listing the attorneys involved and the documents that have been filed) is currently 282 pages!

(Disclosure: One of the law firms I worked for, many years ago, represented a defendant in MDL 1626. I never worked on the case.)

I don’t think there’s any doubt that isotretinoin causes birth defects, and that women who might become pregnant shouldn’t take it. The packaging and the iPLEDGE stuff is very annoying, though. For me, it’s all an interesting daily reminder about how law, lawsuits and medicine can crash together in interesting (or annoying) ways. And it’s a pretty stark reminder about how the pill I’m now taking each night has caused some severe side effects in some people.

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In Case You Missed It: Recently From FIRST http://confettiskin.com/wp/2014/01/16/in-case-you-missed-it-recently-from-first/ http://confettiskin.com/wp/2014/01/16/in-case-you-missed-it-recently-from-first/#comments Thu, 16 Jan 2014 17:32:02 +0000 http://confettiskin.com/wp/?p=27455 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 [...]]]> 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.

On the more technical side of things, we thought there were some other noteworthy posts on the FIRST blog. Back before Thanksgiving, FIRST wrote about a paper published by one of the Yale researchers, Dr. Britt Craiglow, regarding the use of tazarotene (also known as Tazorac and other names) to treat ectropion, the failure of the eyes to close due to the skin pulling on the lower lid.  Dr. Craiglow’s paper was published in the May 2013 issue of JAMA Dermatology (formerly known as Archives of Dermatology) (PubMed link).

FIRST also published a survey about how lamellar ichthyosis affects patients’ and parents’ lives. The survey was done in conjunction with Galderma, a pharmaceutical company we know best as the makers of Cetaphil.*

On the social media front, FIRST has set up Facebook groups for parents of affected children, affected adults, and others. The parents’ group has quite a bit of activity. Contact a current member to be added.

We encourage all members of the “ichthyosis family” to follow FIRST’s blog and its presence on Facebook, Youtube, and elsewhere. There’s a lot of great information there!

Disclaimers/disclosures:

* Our kids attended Camp Wonder, which Galderma also sponsors, and as part of our participation there, Galderma sent us a case of Cetaphil.

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ARCI in Africa: Meet Dakura, Kweku and Amotalé http://confettiskin.com/wp/2014/01/13/arci-in-africa-meet-dakura-kweku-and-amotale/ http://confettiskin.com/wp/2014/01/13/arci-in-africa-meet-dakura-kweku-and-amotale/#comments Mon, 13 Jan 2014 13:51:34 +0000 http://confettiskin.com/wp/?p=26878 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 [...]]]> 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.

The children live with their mother in northwestern Ghana,  a subsistence farming area in the middle of sub-Saharan savannah. Their father died several years ago, and others in their village believe them to be cursed and evil. The village residents have refused to give the family food and their mother is beaten regularly. They live, literally, under a tree.

In 2011, a local relief worker and minister, Faustina, began helping the family, buying food and doing what she could with meager funds. Late last year, Colorado nurse Michelle McGowan saw a short video Faustina made about the children, and Michelle was moved to help the family. Within a few days, she jumped on a plane to visit the children in Ghana.

According to Michelle, Dakura, age 15, is reasonably healthy. He spends a lot of his day pouring water on himself with a bowl and a bucket to stay hydrated. Michelle says that he is intelligent and inquisitive and happy.

copyright Michelle McGowan, 2014. used with permission

copyright Michelle McGowan, 2014. used with permission

Michelle says that Kweku, age 12, is almost completely blind from corneal damage caused by untreated ectropion. Ectropion is a fancy name for when the eyelids pull down and fail to close all the way, and it is a fairly common symptom of many ARCI types. Michelle told me that for all three of the children, the scale on their eyes is so thick that their eyes do not close at all, and that the dry air and hot sun caused Kweku’s corneal damage. Michelle feels that he has given up on life and that he doesn’t smile or laugh or cry because his spirit is broken.

copyright Michelle McGowan, 2014. Used with permission

copyright Michelle McGowan, 2014. Used with permission

The youngest child is Amotalé. Michelle told me that while Amotalé is 10 years old, she is only the size of a healthy 4-year-old. Her name means, “Has it gotten to this?”

She has scurvy from vitamin C deficiency and walks with a stick because her legs won’t straighten around the thick scales on her joints. She has severe malnutrition and her belly is distended. Her poor head is so thick with scale that it is like a cap. Michelle told me that two days ago, when she gave Amotalé a bath and removed some of the scale from her head, she saw the skin underneath was leaking pus and was infected. A separate Facebook post from the same day even says there were maggots underneath her scalp. Michelle said that Amotalé hated the bath, but once she was done with lotions, the little girl started dancing.

copyright Michelle McGowan, 2014. Used with permission.

copyright Michelle McGowan, 2014. Used with permission.

Michelle has encountered several problems in Ghana. Before she left America, Michele contacted Beiersdorf, who gave her three cases of Aquaphor for the children. However, Michelle says that Ghanian customs officials at the airport seized the Aquaphor and have not yet released it.

Things our own family enjoys here in the developed world, such as acid lotions and topical retinoids and even simple things like bathtubs and eye drops are expensive or even impossible to get in places like Ghana. At the village, Michelle has access to bleach, salt and shea butter (the region is actually known for producing refined shea butter!), but is working hard to find a barrel or something that can be used as a bathtub. She is trying to get the kids some medical treatment, and has just started a charity, The Children of Kuuncheni, to deal with local government requirements. Michelle says she is staying in Ghana until the middle of February. Before she leaves, she hopes to be able to relocate the family to the capital city, Accra, where they will have better access to things like running water. She is trying to raise money to support the move and cover costs in the city. Doctors Without Borders doesn’t work in the country, and even USAid appears to be focused on bigger-picture things like malaria and safe water supplies.

We’ve written before about other poor, isolated areas in Mexico, Malawi, and Indonesia. The plight of affected people, especially children,  and the difficulties that relief workers like Faustina and Michelle are having are a striking reminder to us that ichthyosis affects people around the world, regardless of race, religion or social status. It’s also a reminder to us and our family about how lucky we are to be born with access to creature comforts in a society that doesn’t see congenital birth defects as evil. Well, most of the time, right, Carly?

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