Find Us On Facebook
Follow Us On Twitter
"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".

Read more about us and this blog...

Here's our summary of our best and most important posts of 2012.

Disney’s New Policy

Yesterday, I wrote a bit about our wonderful experience at Disney with three heat-intolerant children. Today, my friend Shannon Sagona is our guest poster, here to tell us about how Disney changed their pass for disabled guests. Shannon is a personal friend of mine, not affected by ichthyosis, but a mother of 3 and a travel planner with Snapshot Getaways.  Her specialty is Disney vacations for families.  You can find her at whodatmouse.com and SnapshotGetaways.com.

———————————

In October 2013, Disney canceled their much abused Guest Assistance Card (GAC) in favor of the new Disability Access Service Card.  The new program is designed to make it harder for people to misuse the system while still giving those that need it a level playing field in order to enjoy the parks.

The system works by issuing the disabled person in the party a card (as always, no proof of condition is needed) complete with a photo. Someone in the party (it does not have to be the disabled person) will hand the card to a Cast Member in front of an attraction (or at Disneyland there are unmanned kiosks throughout the parks) who will give them a return time and will note that time on the card.  When it is time for the party to return to the attraction, anyone in the party may board, however, it is required for the cardholder to ride along with them.  This is a new condition compared to the old GAC.  Only one return time may be held at a time, but once that return time is used or has passed, another may be issued.  The card is good for all Disney parks so there is no need for a separate card for each park. The card can also be used in conjunction with the new FastPass+ system.

Under the new policy, any guest who requires the use of a wheelchair or scooter will not need to have a DAS card as they will always be allowed to wait in the standby line, use FastPass+, or will be given a return time by a Cast Member.  In Disneyland, they are escorted to a separate wheelchair entrance.

The new policy lists nothing about shaded/separate quieter waiting areas, so I don’t know how Disney will handle those situations.  A good deal of Walt Disney World’s queues are already in the shade or indoors because of the grueling Florida heat. As always, Disney is committed to making their parks a special experience for every guest so if there are any concerns or special needs, you can head to Guest Relations for additional assistance.

There are a lot of things that families can do to make sure their families are as comfortable as possible throughout the day.

  • Stay on property so it’s easy to return to your room to rest periodically
  • Take advantage of Extra Magic Hours when the parks are less crowded
  • Visit during the cooler off-season.  Late January and early February are very nice times to visit.
  • Stay hydrated.  Any quick service restaurant on property will give you as much free ice water as you want.
  • Don’t try to do it all.  Know your family’s limits

I realize there are a lot of people who are unhappy with the changes to the system and I can definitely understand that.  I think it’s fair to note that in any major change to a long-standing policy there is going to be a period of adjustment.  I know Disney and I know how devoted they are to their guests, especially children.  I feel confident that they do all they can to accommodate the needs of their guests.

Disney Changes their Disabled Guest Pass Policy

It’s been a few years since we went to Disney, but when we went, it was at the worst possible time of the year for a family of heat-sensitive small people. But you know what? Disney was fantastic.

In 2010, FIRST, the Foundation for Ichthyosis and Related Skin Types, held their biennial conference in late June in Orlando. It was a great opportunity to take the kids to Disney by staying a few extra days, but a lot of families were concerned about the extreme heat and humidity in Florida at that time of year. We charged ahead. At the time, our affected kids were 7, 4, and 22 months. The younger two were still too small to walk long distances and even the older one still tired and had sore feet after a long day.

Upon getting tickets for Disney, we went to the Guest Services desk and they gave us two Guest Assistance Cards. One was “Stroller=wheelchair.” The other was “Shaded waiting.” We had a letter with us from our doctor that explained our needs, but they didn’t even look at it, or even ask what their diagnosis was.  They just asked what accommodations we needed and accepted our explanation with a smile. Our last name and the number of people in our party was written in marker on the cards and attached to the stroller handle.

Shaded waiting meant that we could bypass the part of the line that was out in the sun and jump into a regular line at the point where it was shady. Depending on the attraction, sometimes this meant going in through the exit or the wheelchair entrance. For others, someone was on duty to open the chain at the start of the shaded part. And for some attractions, we went straight into the air conditioning area, although we still waited our turn in order with the people in the regular line.

Stroller=wheelchair made it easy for us to minimize walking and overheating for the boys. It let us keep their cooling cloths, their beverages, cream, misting fan, etc, right on us until they got into the attraction instead of parked with the rest of the strollers quite a bit away. Between these two passes, we were able to spend most of the morning and most of the late afternoon and evening at the park without meltdowns from being hot and cranky, or worse, actually dangerous heat exhaustion.

In addition to the passes, we also did our best to alternate air conditioned rides with things in the heat, walk under awnings in the shade, and even better, walk through the shops instead of down the main street. All the shops are connected into one giant building inside. We could enter a costume shop, wander through an ice cream parlor, keep on going through a keychain and t-shirt vendor and straight into the hot dog joint on the end without ever returning to the heat. Combined with returning to the hotel in the hottest part of the afternoon, we really had a great experience.

Things have changed a bit since then. Starting in October, the Guest Assistance Passes have been replaced with Disability Access Service cards. As this new system rolled out, there was quite a bit of uproar in the news and among friends. Many people have been concerned that the changes will make visiting the park more difficult for families that have certain types of challenges, such as kids with autism that cannot deal with long lines or want to ride a single attraction repeatedly, or kids with heat intolerance, like ours, where a walk through the sun to get a new pass for each ride might end up shortening the day from overheating.

While reading up on the changes, I came across this lady’s experience, and it looks pretty promising. Tomorrow, a friend of mine will be joining us to tell us more about the details of the new system.

How do your regional amusement parks handle your request for accommodations?

The Isotretinoin Grind (Rachel’s Isotretinion Log: Week 4)

Jennifer’s busy dealing with sick children, so now’s as good a time as any for another update on how I’ve been doing on isotretinoin (also known as Accutane and other names).

It seems that my hands are pretty much in a steady state. As I wrote last week, I’m now able to open my hands all the way throughout the day, not just right after I’ve taken a long soak. And washing my hands is now a lot easier. I can wash my hands quickly, instead of needing to soak ‘em for several minutes. Changes to the skin on my hands is enough for me to declare the isotretinoin results to be great for me. And that’s especially true as we’re approaching the cold and dry winter months, where things have been the worst for my skin.

But there’s more than just my hands. I’ve had a lot of peeling on the less-severe parts of my body, like my arms, leg, torso and back. The skin there is now a lot smoother. I’ve had rough patches on my elbows and knees — they’re usually rough enough that I need to file ‘em down with a sharp nail file — and those rough patches are now gone.

The most annoying side effect I’ve experienced so far is itching. I’m ok during the day, but at night, the itching has kept me up. Itching is something I’ve dealt with frequently, but this latest round of isotretinoin-caused itching has been quite severe. I’ve been using cortisone and Sarna (pramoxine) lotion at night, but I’ve found that knocking myself out with some Benadryl (diphenhydramine) works just as well. I’m not sure I want to be using sleeping pills long-term. I’m still trying to figure out whether the itching will persist.

The biggest open question for me, at my current dosage of 40 mg/day (0.6 mg/kg/day), is how much more improvement I’m going to see in my feet.

I’ve been taking the isotretinoin for three weeks now and the skin on my feet has improved, but it’s certainly not as noticeable as my hands. I’ve gotten some peeling on my ankles and on my instep (dorsum pedis). But the bottom (plantar surface) still is retaining a lot of the thick scale.

Over to the right is a picture I just took of my left foot. This is about two hours after getting out of the shower this morning. If you compare it to the pictures of my feet I’ve previously posted (or even the pictures that accompanied our Reddit AMA), you might not see a lot of difference.

Picture taken two hours after getting out of the shower. (c) 2013 confettiskin.com, all rights reserved.

Picture taken two hours after getting out of the shower. (c) 2013 confettiskin.com, all rights reserved.

I think the biggest difference is that the dark pink areas in between the thick scale on my sole in today’s picture are the softer, more flexible skin, and not a painful fissure (like in the previous pictures).

I have definitely noticed that my feet are cracking less often, so the start of the winter hasn’t been as hard on me, foot-wise.

At my checkup with my dermatologist last week, she asked me if I wanted to increase my dosage. I’m going to stay at 40 mg/day for the next month, to see how much more improvement I get on my feet. I think I’m experiencing some slow and gradual change to the skin on my feet, as opposed to the really rapid change I noticed on my hand. But I’m not sure if that’s wishful thinking or just slower action.

Other than the itching, I’ve noticed a few other side effects. My lips are extremely chapped, so I now have chapstick everywhere. And since chapstick tubes are smaller than cream bottles, they seem to have multiplied even faster than my cream bottles. I’ve also noticed that the thinner areas of my skin are more fragile, and that I’m healing slower than before. I scraped up my finger while taking out the garbage on Sunday. It felt like it took less to scrape me up than before, and I noticed that it took a bit longer to heal.

And because of the thinner skin on my hands, I’m no longer able to pick up a hot casserole dish without a potholder. Although really, in terms of quality-of-life, I don’t think that’s a big deal.

I’d be curious to know how quickly other people with ichthyosis — especially those with palmoplantar epidermolytic ichthyosis — have noticed results from oral retinoids like isotreinion or acitretin (also known as Soriatane and other names). That anecdotal experience might help better inform my own dosing decisions. If you have any experience on that front, please let me know in the comments here, via Facebook, or via email.

 

Isotretinoin and Wedding Rings (Rachel’s Isotretinion Log: Week 3)

I’ve been on isotretinoin (also known as Accutane and other names) for three weeks now, and I’m amazed at how quickly I’ve seen results.

But isotretinoin almost made me lose my wedding ring! About a week after starting on the medicine, I had full range-of-motion in my hands and was able to my fingers open throughout the entire day. This was a totally new feeling for me, since normally my hands lock in “flexion” with my fingers curled in, and it hurts to straighten out my fingers.

My wedding ring is a half-size or so too big. We got it in that size in order to make it easier for me to slide the ring over my knuckle in flexion. (And in fact, we had an awkward pause during our wedding ceremony from the extra time it took Jennifer to ease the ring onto my finger.) But with the increased flexibility in my fingers, that too-loose ring started flying off my finger when I made too-expansive a hand gesture.

Wedding ring flying off my finger while seated at my office? Not a big deal. Wedding ring flying off my finger while walking down the street in downtown DC? That’s a problem. Fortunately, I recovered the ring after searching the sidewalk for a few minutes.

You’d think that after having the ring fly off my finger while walking downtown that I’d have learned my lesson. I thought that I could just “be more careful” until I had time to get the ring re-sized over the weekend. But on Friday afternoon, while driving to the train station, I noticed that my ring wasn’t on my finger at all. Uh oh.

Continue reading Isotretinoin and Wedding Rings (Rachel’s Isotretinion Log: Week 3)

Rachel’s isotretinoin log: Week 1

I feel kind of miserable right now, but I’m not entirely how much I should be blaming isotretinoin, also known as Accutane and other names.

I’ve been taking 40 mg/day (0.6 mg/kg/day) since last Monday night, so it’s been one week since I’ve been on the drug.

My skin is starting to peel. My face started peeling on Sunday morning, and my nose feels dry and itchy, even after putting on a few layers of cream. My hands now have several thin spots on them — they feel just like they did back when I was using Retin-A (topical tretinoin cream) back when I was a kid. I don’t have any raw spots on my face or hands (yet), although I have a bit of rawness…elsewhere.

I’m also itching. A lot. I suspect that this is the precursor to a full-body peel. I had the misfortune of getting a whole bunch of insect bites on my lower legs a few weeks ago, and the bites were mostly healed when I started on the isotretinoin last week, but the bitten areas are especially itchy, even though they’re almost fully healed.

That’s about all that I think is directly attributable to the isotretinoin. But I’m feeling miserable for a few other reasons, too.

I’ve been fighting a nasty bug for the past week. Strep test came out negative, but I do have an ear infection and a sinus infection, and last Wednesday night I was coughing so much I wound up keeping myself up for most of the night. I’ve been on antibiotics and prescription-strength cough medicine and fluticasone (Flonase) since Thursday, which have helped a little. (And I even checked with my dermatologist about drug interactions — she said I should be fine.)

Also unrelated, but definitely contributing to my misery of the past week, was the fact that I passed a kidney stone last Sunday (before I started on the isotretinoin). Yuck. And ouch.

Because of sinus pressure and general miserableness, I postponed my usual Friday-night drive from DC to Richmond until Saturday afternoon. The drive, which usually takes me a little under 2 hours, wound up taking me 4.5 hours. I’m sure that added to my misery. I was not a very pleasant person to be around on Saturday evening. Mood-altering medicine, or just an understandable side effect of being stuck in traffic, itching, having a massive headache, coughing and other illness? Meh.

Oh, yeah. Did I mention that I’m falling behind on some projects at work, and elsewhere?

Jennifer seems to have come down with some of the same symptoms, so our family is full of cheerfulness right now.

Playground Trauma

So…. we are eight weeks into school. Three of my kids have teachers new to both the school and the district, so we had to go through the whole spiel back on Meet the Teacher night. The oldest one is finally at the point where he can more or less advocate for himself, especially with his veteran teacher of 18 years. Momo has Monkey’s same kindergarten teacher, so she knows the drill from 2 years ago. It has really only been interesting with Monkey’s teacher, who is fresh out of college.

I have yet to have a week without at least one call from the school nurse. Cookie is still having abdominal issues, which has resulted in a weekly call.  Momo’s great start to kindergarten derailed about a week in when we discovered that he was afraid to use the classroom bathroom because he couldn’t manage the door handle.  I was confused about why he had to go so badly when I picked him up every day. One day, he didn’t make it. When I brought in clean clothes, he explained his problem with the door handle, and that he tried to wait until he got home instead of asking for help. Kitty did…something…to her toe last week and was hobbling around like it was broken. I have no clue what that was about. It seems to have cleared up after a few days. Monkey has had a great year up until this week.
Continue reading Playground Trauma

Thoughts on Starting Isotretinoin

On Monday, I visited my local dermatologist for the second time in a month, and received a prescription for a a low dose of isotretinoin (also known as Accutane and other names), an oral retinoid.

It’s taken me slightly over a year-and-a-half to get to this point. Way back when I gave him a bunch of biopsies many years ago, Dr. Choate had suggested to me that for me, the benefits of oral retinoids outweighed the risk. I sat on this idea for a while, but our consultation with the medical experts at FIRST’s family conference in Denver last summer solidified my resolve to start. (And our own research, some related to the blog here, supported that conclusion.)

There were lots of reasons for the year-and-a-half-plus delay. I’m taking some other medicine that’s metabolized through my liver, and sorting out my dosage there and assessing alternatives took far longer than it should have. (I had a horrible experience with the endocrinologist who initially set me up, was met with a puzzled, “Huh, I guess that’ll work, although I’ve never seen this before” from the second one, before finally getting a more definitive answer from an expert. Sound familiar?) And once I sorted that medicine out, it took time to schedule myself into an appointment with my local dermatologist.

893515_439749152802668_1022169120_o

Continue reading Thoughts on Starting Isotretinoin

Some Nice Things About Ichthyosis

We’ve had a couple of long days at home dealing with some household issues, so after the kids went to sleep last night I poured myself a nice glass of wine.

Wine glass on Cetaphil lid

I can think of few real “nice” things about ichthyosis, but it’s certainly convenient to have a jar of Aquaphor or Cetaphil in every room of the house, because, as you can see from the picture I took last night, in our house we almost never need to hunt for a coaster or a trivet.

With Cookie regularly getting up at 6am (or earlier) to get in a good bath and scrub, we’ve started letting Monkey and Momo do a “quick” shower in the morning (with “quick” being around half an hour), followed every few days by a more thorough shower (with scrubbing) in the afternoon or evening.

So yesterday afternoon before dinner, I spent some time with Monkey de-crustifying him. He was unusually cooperative, even on some of the more problematic areas. Spending an hour playing with my seven-year-old in the bathtub was a lot of fun, and but for the need to get in a good soak-and-scrub, I’m pretty sure I wouldn’t have taken the time out of an exhausting day to sit down with my son and get that time for just the two of us. Although, come to think of it, being seven years old, there were a lot of fart jokes. What can I say? When dealing with kids, it’s easy to move quickly between the sublime and the ridiculous.

I think one of the subtle dangers about having a disability — not to mention trying to write regularly about that disability — is that we focus too often on the burden, on the dark and sad moments.

I know I’ve said this before here, but it bears repeating. Despite all the bad days, there are some bright moments, too. It’s hard to remember those bright moments when dealing with overheating, injuries or other assorted bad stuff — but they’re there, too.

Unwelcome Attention in a Restaurant

The restaurant diners looked up from their meals and stared at Monkey and me as we raced through the restaurant. He wasn’t subtle by any stretch of the imagination — he was waving his hand up in the air hollering “Eeeeeeeyow ow ow ow OWWWWWWW!” as he wound his way through the dining area.

We had been seated in the far-back corner booth of the restaurant, a nod to the realities of dining out as a family of six. And although there were a few other families with young kids scattered throughout the restaurant, it was one of those “upscale casual” places — so our screaming seven-year-old interrupted the mating dance occurring by the bar, which was lined with a bunch of overly trendy glowing crystal skulls. (Seeing the skulls only made me want to joke about nuking fridges, but I’m old and crotchety that way.)

Our waiter, who had somehow managed to mess up both our drink order and our dinner order, looked up from his tray, his face contorted into a look that I read as “there goes any chance I had of getting a tip from that table”.

Continue reading Unwelcome Attention in a Restaurant

The Sequester on Scientific Research Impacts Us All

We’re now well into the second week of the government shutdown, and this means a big deal to me and my family because I am one of the 800,000+ federal workers who have been furloughed. Bottom line, for the duration of the shutdown, I’m out of work and am not being paid.

One of the things I’ve realized, though, is that there’s a bit of a DC-centric bubble around some of the coverage of the sequester and shutdown. So I’d like to take a minute and talk here about what federal budget cuts have already meant for ichthyosis research in general.

It shouldn’t be a surprise that one of the shut-down federal agencies is the National Institute of Health. So during the shutdown, new research grants aren’t being processed. This is a huge deal for researchers trying to get funding for their projects, or support for ongoing clinical trials, but hopefully things will move forward when the government reopens. I’m hopeful that despite the political gridlock closing the government, those setbacks will resolve relatively quickly and won’t have a material impact on the pending research projects. (And I’ll be back to work, too.)

But the bigger-picture problem has its roots in the earlier debt-limit showdown back in August 2011 and the implementation of the “sequester” cuts in early 2013, and that problem’s not going away soon. I won’t go into the details about how or why that came about, but the bottom-line is that this year, every federal agency in the “nondefense discretionary” category — like the NIH — had its budget slashed across-the-board by 5.3%. These cuts have already occurred and, by all accounts, will continue.

This year, the NIH’s budget has been reduced by $1.55 billion. By law, the NIH needs to apply the cut evenly across all of its ” programs, projects, and activities”, which means “every area of medical research will be affected“. NIH or the President has no discretion to reallocate the cuts to a different agency, or even a different program.

In the summer of this year, certain groups were able to convince Congress to grant them exemptions from the sequester cuts. These included cuts to air-traffic controllers and to food inspectors. But getting an exemption for medical research funded by the NIH wasn’t really on the radar then, and it certainly isn’t on the radar now.

So it’s almost certain that the cuts imposed by the sequester will continue. And while the politicians will hopefully negotiate to reopen the federal government soon, undoing the sequester cuts isn’t even on the table.

What does this mean for ichthyosis research? It’s more than just some abstract numbers cited in a politician’s speech. Earlier this summer, Jennifer spoke with Dr. Keith Choate at the FIRST regional conference in Mahwah, NJ. Dr. Choate’s Gene Discovery Project at Yale has made a huge difference in the lives of many families affected with ichthyosis, and that project has discovered several new genes. Isolating these different genes is important because it means we can tailor treatments and potential cures to specific mutations, as Dr. Roop and Dr. Paller are doing.  He’s also been wonderful for our family, both as a friend and as someone doing research on our own very rare type of ichthyosis.

Dr. Choate mentioned at Mahwah that his lab faces significant sequester-related cuts. He’s going to lose funding for a grad student in his lab, and with some of his current funding expiring in November, he’s expecting to have to make even further cuts to his lab, which means that he won’t be able to do as much.

Losing funding for the grad student is one of the real tragedies. As a result of the sequester cuts, fewer “up and coming” researchers are going to be exposed to specialty practices — like ichthyosis research.  When talking about the effects of the sequester on research, the current NIH Director, Francis S. Collins, said, “I worry desperately this means we will lose a generation of young scientists.”

Dr. Elias Zerhouni, the former head off the NIH, agreed that the sequester cuts will “maim our innovation capabilities” and that they “will impact science for generations to come“. Labs all over the country are working on limited funds, and many are considering shutting down as the funding dries up. Moreover, he felt that because NIH will continue to meet existing funding obligations, the sequester cuts are going to disproportionately impact new research proposals.  The sequester is “a disaster for research,” because “[t]he most impacted are the young, new investigator scientists, who are coming into science, [who] will now abandon the field of science.”

James Rothman, one of the co-recipients of the 2013 Nobel Prize in Medicine, agreed. Citing shrinking the shrinking NIH budget, he told reporters, “It is much, much more difficult… for a young scientist to get started today.

Ichthyosis research has already felt the brunt of budgetary cutbacks to research budgets over the past decade. In the flush budgetary environment of the 1990′s, we saw NIH funds applied to fund projects like the National Ichthyosis Registry, which ceased accepting new patients due to lack of ongoing funds. And anecdotally, federal funding for other specialty research projects had already been much harder to obtain, even before the sequester cuts.

We think that one of the most pressing dangers for ichthyosis research is that in this tight budgetary environment, researchers — like Dr. Choate — will feel pressure to conduct “safe” research on more readily-funded projects with fewer undergrad trainees.  We’re also worried that promising young students and researchers at the start of their career may turn away from ichthyosis research, and instead pursue research projects that are easier to fund, or worse, turn away from research entirely due to lack of funding.

The severe austerity measures imposed by the sequester aren’t going to go away. In order to make up for the cuts to ichthyosis research funding, we need to see an infusion of research funds from some other source. And while FIRST, the Foundation for Ichthyosis and Related Skin Types, can partially fund a few promising research projects out there, there are still many other equally promising ichthyosis research projects which remain unfunded.

We need to do better in assessing our priorities as a country.