Our friend Hunter Steinitz has added another media appearance to her list — she appeared on the May 16, 2013 episode of Inside Edition. (Nitpick: Hunter is 19 years old, not 15, as stated in the caption.) On the show, Hunter shares some wonderful thoughts about her outlook on life.
Hunter’s appeared in the media before. She guest-posted on our blog here as part of our series on life with harlequin ichthyosis, the most severe type of autosomal recessive congenital ichthyosis (ARCI). Hunter’s guest posts here are about “The Downs of Middle School” and her better experience in high school.
Most of the posts in our series on harlequin ichthyosis are available here, in our “harlequin” category.
I’ve booked my tickets for a trip to Dallas, Texas to attend the FIRST Patient Support Forum on June 8. If you are in the Dallas area (or can make a trip out there), please join me at the conference!
The featured speaker is Dr. Moise Levy, a member of FIRST’s Medical and Scientific Advisory Board. Moise is the Physician-in-Chief at Dell Children’s Medical Center in Austin, and, besides being a friend, is most definitely one of the doctors Jennifer and I have pointed to as “knowing his stuff” when it comes to ichthyosis. (In fact, Moise took the lead with our family last year in Denver, when we did our family checkup/show-and-tell at the FIRST national conference. He was especially good with Momo, who went into the session with his usual degree of skepticism.)
Continue reading FIRST Dallas Regional Conference, June 8
Early this week, Laurie wrote with great insight that there’s really no such thing as an “unaffected” sibling. While those siblings may not directly face the physical and sometimes mental challenges of their affected sibling, their lives are altered as the entire family works their lives around the new normal. As adults, we see what the typical kids lose when a child is born with medical issues. Sometimes, it makes us feel guilty. Guilt that we’re not doing enough for the affected child. Guilt that the affected child isn’t following a typical growth pattern, or walking soon enough. Guilt that we should have known before they were born. Guilt that the other siblings are impacted by the needs of the affected one.
Sometimes, it’s hard to remember that from our kids’ perspective, the disorder in their family is their normal. They don’t know any different. And by that standard, their affected sibling shouldn’t be treated any differently, either. Sometimes, having the affected sibling means gaining the ability to understand people at a much younger age. It means being empathetic and kind. And it means learning to taking a stand against injustices in our lives, be they huge societal issues like the right to sit in a restaurant unmolested or small things such as walking through a store without some busybody making remarks.
Continue reading The Upside of Guilt: What Our Kids Learn From Adversity
A few days ago, Jennifer said to me, “I don’t know how to tell this story without making us look like idiots.” And we’ve been wrestling with that for almost a month now. I think the honest answer is really, “Yes, we were idiots.” And maybe part of blogging about life with ichthyosis is being honest enough with our audience to acknowledge the times when we have made mistakes. –Intro by Rachel
In early April, we went to the National Cherry Blossom Festival up in DC. We took some amazing family pictures along the Potomac and at the MLK Memorial. What the pictures of the children playing amidst the cherry blossoms and by the Potomac River don’t show, though, were some of the skin-related meltdowns we had to deal with.
Reading some of our descriptions on Facebook, one of Rachel’s friends jokingly asked about our “Cherry Blossom Death March”. Read on for our full story.
Continue reading The Cherry Blossom Death March
Good news out of Michigan — there has been a settlement in the Justice Department’s lawsuit against a Golden Corral restaurant in Michigan that kicked out a family with three daughters who had a form of epidermolysis bullosa.
According to a report published this afternoon by the Detroit Free Press, when announcing the settlement, Barbara McQuade, the U.S. Attorney for the Eastern District of Michigan, said, “We hope that today’s settlement will help prevent discrimination based on unfounded fears by raising awareness of the duties to accommodate individuals with less common disabilities.”
The settlement papers were filed in court today, and still need to be approved by the judge. (Settlements of this nature are almost always approved.)
Continue reading Golden Corral Lawsuit in Michigan Settles
Earlier this week on Facebook, we saw an excellent post from Laurie Fiore as part of Ichthyosis Awareness Month. Two of Laurie’s children have a form of ARCI. Taking a page from Carly’s project, we asked Laurie for permission to re-publish her post on our blog here, because with the passage of time, this type of post would otherwise become very hard to find.
Read on for what Laurie wrote about the myth of having an “unaffected” child and our own reaction and experience.
As you know my two oldest children do not have ichthyosis. This makes them, by conventional wisdom, unaffected siblings. When my son was born, Julianna had just turned four and Jackie was just shy of turning seven. Just a day or so after being born and placed in the NICU, I had to choose between leaving my son, who we were told was going to die, and taking my Julianna to the pediatrician because she had pneumonia. Thankfully, her doctor had an office in the same hospital. From the earliest moments, my daughters have been affected by ichthyosis. Life became a series of difficult choices, doctor’s appointments, visiting nurses, new language, care products, fear, tears, and not so subtle blame directed at me from those unwilling to accept the meaning of congenital.
Continue reading The Myth of the Unaffected Child
By now, over 270,000 people have seen a picture of Rachel’s foot, thanks to our question and answer session on Reddit three weeks ago. Much less visible was this other photo back around Halloween night. If you compare the two photos, you might notice that the thickness of the skin appears very different between the pictures.
Our form of ichthyosis (ichthyosis-en-confetti type 2) has many symptoms that look like palmoplantar keratoderma (PPK), a type of epidermolytic ichthyosis. The skin grows fast, gets thick everywhere, turns gray and itches, and in an injury, comes off in sheets instead of bruising. But unlike many with types of epidermolytic ichthyosis, Rachel and the boys usually don’t get blisters.
The worst parts for us to manage is the hands and feet, as those two areas get the fastest growth and thanks to all the nerve endings, are sometimes painful to deal with. As the skin gets thicker, the color changes from pink to white, and anywhere there is a crease (like at the bend in each finger, the wrists, the base of the thumbs and the lines all along the palms) or anywhere you put pressure (like your fingertips or just walking around), the skin will dry out over the course of the day and crack open with a deep fissure or a small paper cut, depending on how thick we let it get.
We’ve tried everything.
Continue reading Daily Life With Ichthyosis: Better Living through Power Tools
Summer is heading towards us in the Northern hemisphere. Some parts of the country are still enjoying (or not) snow, while down here in Virginia we have lovely 60-70 degree days with a lot of rain. But soon will come summer, and with it lots of 90+ days. Many kids with ichthyosis contend with thickened skin, dehydration and blocked sweat glands and overheat even in moderate temperatures.
- We talked about this once before, back on Meet the Teacher Night. Basically, there are 3 overlapping issues.
- First, the thick skin functions like an extra layer of clothes, trapping heat simply by being thick.
- Second, the broken water barrier passively lets out water at a constant rate, called transepidermal water loss, that goes up and down with the temperature. The hotter it is, the more evaporation takes place, just like turning up a pot of water on a stove makes it boil faster and turn to steam quicker.
- Third, overheating is compounded by blocked sweat glands that cannot actively pump out sweat to keep up when the temperature climbs.
- On top of all that, the smaller the person, the more skin they have relative to their size. Bigger people tend to have a lot of mass and a comparatively small skin surface, while an infant at birth can have as much as 6 times the surface that an adult does compared to its weight. This goes down as we grow, but remains a problem especially for younger or undersized children.
Staying hydrated is vital to summer comfort for anyone, but most people don’t have to deal with 4 or more times the water loss through their unimpaired skin. So we often have to go a step further and find another solution. One way to extend our comfort level outside is to wear a cooling vest. There are 3 general types of vests, plus a hybrid style, that you can buy, and all have their benefits and challenges.
Continue reading Cooling Vests
Welcome to May! This month is dedicated to raising awareness about ichthyosis. This looks to be one of the most active Ichthyosis Awareness Months ever! Here are the goings-on around town we’re aware of:
FIRST, the Foundation for Ichthyosis and Related Skin Types, is publishing member stories throughout the month of May. The first “personal insight into the lives of individuals and families touched by ichthyosis” is from Cynthia Bremmer, who writes about living with lamellar ichthyosis. (Several of the international groups have also started talking about this series!) Expect a new entry every Monday-Wednesday-Friday for the entire month! And we know that FIRST also has a bunch of fundraising and advocacy events scheduled for this month. (Hopefully we’ll see our friends getting some time in front of the TV cameras on Friday morning — stay tuned!)
Our friend Carly Findlay is also hosting an extensive series of guest posts on her blog, amplifying voices and faces through blogging. We, of course, are big believers in the power and reach of blogging, and we were happy to contribute to her series there. Carly also made an “It Gets Better” video, talking about ichthyosis and appearance.
Brenna’s mom, Courtney, has also posted an amazing video featuring children with ichthyosis for Ichthyosis Awareness Month. Courtney’s blog post about the video (and supporting FIRST) is a must-read.
Evan’s mom, De De, also blogged about the start of IAM. And Stephanie has a lot going on in her life (she’s started having contractions) but she also mentioned IAM on her blog.
We’re excited to see all of the activity for Ichthyosis Awareness Month. Let us know if we’ve missed anything!
A year ago, I was asked to bring my children to a medical meeting to participate in grand rounds. It was…unfulfilling, shall we say?
Fast forward to January. In the course of starting this blog, we have met quite a few new families, and while I feel that I am pretty confident in answering general questions, sometimes I need to draw on medical resources to help families find the support that they need. Rachel and I are not medical professionals, nor do we try to fill that role. So anyway, a situation arose where I had to contact Dr. Sherri Bale, the co-founder and head of GeneDX in Gaithersburg, Maryland. Within the ichthyosis community, GeneDX is known for conducting genetic tests for a large variety of rare disorders, including the entire spectrum of the ichthyoses and epidermolysis bullosae. Dr. Bale and her Chief Medical Officer, Dr. Gabriele Richard, are very active in ichthyosis research and with FIRST, the Foundation for Ichthyosis and Related Skin Types.
I emailed Dr. Bale, got the answers I needed, and got back to the overseas family who had sought me out. Dr. Bale and I ended up messaging back and forth for a bit, just generally catching up. She soon realized that we had moved to the East Coast corridor since we had last seen her. Once she realized how close we were, she invited us out to the office to do a presentation for the staff. Close, in this case, means a 3 hour drive each way.
Sure, I said. That would be great! We scheduled the presentation for an early February afternoon, and we were off!
Continue reading Invited to Speak: The Storyteller