Brenna’s first birthday is next week. Her mother has been blogging about life with a newborn with a rare genetic skin disorder for a year, too.
December 12, 2012 9:12 AM   Subscribe

If any of these links have images, you might want to put a warning on this post, because this can a very very upsetting thing to see.
posted by elizardbits at 9:14 AM on December 12, 2012 [5 favorites]

Definitely seconded. I want to read, but ... I don't want to see.
posted by rewil at 9:16 AM on December 12, 2012

The main link has fotos, and you can't avoid them if you don't want to see them.
posted by Jehan at 9:17 AM on December 12, 2012

There are images associated with most of the links, although I feel that the ones to the blog aren't overly upsetting. YMMV. I will consult the mods - thank you!
posted by Occula at 9:18 AM on December 12, 2012

Disable all browser images first? I'm not going to test it out, though.
posted by elizardbits at 9:19 AM on December 12, 2012

Man, that's no fun at all. My dad has one of the milder forms of ichthyosis - he just has super, super dry skin, mostly on his legs - and it's gross but it's, you know, just dad. (It could have gotten him out of Vietnam, but he flailed around, ended up in the Marine reserves, and then somehow made sergeant because he could type, but never went overseas at all. Which is good, because tromping around in a jungle in leather boots would have actually been pretty dangerous for him in ways unrelated to gunfire and explosives.)
posted by restless_nomad at 9:20 AM on December 12, 2012 [3 favorites]

The only images at the first link are pictures of a cute little girl looking a lot like a cute one-year-old kid. Unfortunately, she will probably have to spend the rest of her life being stared at because she LOOKS WEIRD! Do we really have to have a conversation about whether a one-year-old with a skin condition is TOO HORRIBLE TO LOOK AT?

I've had the worst bout of eczema on my hand that I have probably ever had over the course of this semester. It is, well, gross. I am so tired of people commenting on it (is it a burn? DO YOU HAVE LEPROSY!???!?) that I have it covered and wrapped in an ace bandage. I am so thankful that my annoying and unattractive skin-condition is relatively easy to deal with and covers up well. Sending good thoughts to this poor kiddie.
posted by ChuraChura at 9:23 AM on December 12, 2012 [32 favorites]

If thats blessed, I can't bear to see what cursed looks like.
posted by dr_dank at 9:24 AM on December 12, 2012 [5 favorites]

I looked at the pictures in the above the fold link. They are actually quite tender and show a loving family with a quite poorly little girl. They want you to see the pictures and understand the condition.

If you click into this FPP from yesterday you can see pictures of a dead man being dragged behind a motorbike, dead soldiers etc.

I don't think folks need to worry overly about their sensitivities on this FPP. Seriously.
posted by MuffinMan at 9:25 AM on December 12, 2012 [16 favorites]

Mod note: added a warning about the images
posted by mathowie (staff) at 9:25 AM on December 12, 2012 [2 favorites]

Honestly folks, the words of this family's story are a hell of a lot harder to read than the pictures are to see. I hope no one comes by my desk to ask a work-related question because it's going to be awkward explaining why tears are streaming down my face right now...
posted by Doleful Creature at 9:35 AM on December 12, 2012 [4 favorites]

Does ichthyosis result in a higher susceptibility to other infections? (I'm wondering if the broken skin allows easier entry of pathogens.)
posted by surplus at 9:36 AM on December 12, 2012

I don't think these pictures are upsetting, but to be fair, pictures of 'harlequin babies' were used as shock images for a long time online, which might be what people are reacting to.
posted by sonmi at 9:38 AM on December 12, 2012 [6 favorites]

And I see they'll be writing a book about it too. Savvy.
posted by ReeMonster at 9:38 AM on December 12, 2012

Does ichthyosis result in a higher susceptibility to other infections? (I'm wondering if the broken skin allows easier entry of pathogens.)

From the second link: "The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence."
posted by IvoShandor at 9:40 AM on December 12, 2012

Does ichthyosis result in a higher susceptibility to other infections? (I'm wondering if the broken skin allows easier entry of pathogens.)

It's my understanding (from the small amount of reading I've done) that it does, yes, and that before the invention of antibiotics and other drugs, harlequin ichthyosis was pretty much a death sentence, since the body's first line of defense against infection and bacterial growth and all other kinds of nasty stuff (skin) was out of commission. Wikipedia says the oldest person in the world with ichthyosis was only born in 1984, which means she's only 28.
posted by WidgetAlley at 9:40 AM on December 12, 2012

The photos just after birth are upsetting, but it helps to keep scrolling and see the later pictures, where she looks more normal (really, like a badly sunburned, but happy, baby). Taken as a whole, I found the pictures gave me some hope that things are looking up.
posted by Philosopher Dirtbike at 9:41 AM on December 12, 2012

And I see they'll be writing a book about it too. Savvy.

"Savvy"? Please tell me you didn't mean that as a subtle dig at them.
posted by Philosopher Dirtbike at 9:43 AM on December 12, 2012 [9 favorites]

If thats blessed, I can't bear to see what cursed looks like.

For heaven's sake, she's a happy, smiley little one with a skin condition that creates some other health problems.
posted by FelliniBlank at 9:44 AM on December 12, 2012 [18 favorites]

The British documentary The Boy Whose Skin Fell Off (no scary pictures at that link) was a very interesting and moving look into the life of a young man with a similar condition, dystrophic epidermolysis bullosa.
posted by vickyverky at 9:52 AM on December 12, 2012 [1 favorite]

And I see they'll be writing a book about it too. Savvy.

"Savvy"? Please tell me you didn't mean that as a subtle dig at them.

Maybe "Salvy"?
Okay, just trying to cheer up here.
posted by hal9k at 9:54 AM on December 12, 2012 [1 favorite]

And I see they'll be writing a book about it too. Savvy.

I'm going with you're serious, in which case I agree. Because their daughter's medical condition will require additional medical care above and beyond what "normal" kids will require, and they'll need some extra dough to cover that. And since their daughter's appearance is vastly different than the aforementioned "normal" kids, the book may help foster a greater understanding in the general population of this particular medical condition, which is also a win.

Sure, they could be milking their child for some sweet capitalist bucks, but the charitable interpretation is so much nicer, don't you think?
posted by disconnect at 10:02 AM on December 12, 2012 [20 favorites]

Also worth pointing out that the mom is a writer anyway (well, a blogger, which is almost a kind of writer). So writing a book about THE MOST IMPORTANT THING IN YOUR WORLD, for someone who writes anyway, seems like a natural thing to do.
posted by Mister_A at 10:06 AM on December 12, 2012 [10 favorites]

One of my areas of study as a sociologist is the history of the medical subspecialty of teratology (practically, the study of so-called "birth defects;" literally, "the study of monsters"). Harlequin ichthyosis is one of the conditions, along with conjoined twins, sirenomelia, fetus papyraceus, and hermaphroditism, that were the focus of medical reporting in the early decades of the field. Common differences, like cleft palates, were almost never the focus of reports.

I think about this a lot because my spouse and I are both intersex by birth.

The conditions that medical teratologists chose to focus on are the very same ones that were popular in sideshow exhibitions of the time. These are conditions that are dramatically visible, and they were the same ones written about in centuries of compendia of "monsters." These "monsters" were beasts and human "marvels" meant to show ("monster" comes from the Latin "monstrare") the glory of God in transcending the supposed natural order. Today, such bodily statuses are the subject of popular science and health documentaries.

For science cable stations, the pioneers of teratology, and sideshow managers, people with dramatic bodily variations have proved profitable. But for those of us who do physically differ, this intense cultural interest in our bodies makes life hard.

I have great empathy for the parents of Brenna, who must know that their daughter faces not just health challenges, but a life of dealing with freakshow interest from others. Personally, I am concerned that Brenna may in the future resent the fact that photos of her body were displayed as they are on this blog. But I do understand the impulse to refuse the intense pressure to normalize bodies in our society, and to hide bodies away if they can't be normalized. Should those of us whose bodies challenge ideas of what the human body is supposed to look like (single and independent, four-limbed, binary-sexed, etc.) have to go from being objectified in popular or scientific displays to being hidden from view, trained to think of our differences as shameful and hideous? Can parents not insist that their variant child is beautiful?

I wish Brenna all empathy and a happy life, and I wish for our society to accept bodily variation and stop shaming those of us who don't meet social expectations of what a body "should" look like.
posted by DrMew at 10:07 AM on December 12, 2012 [54 favorites]

Definitely seconded. I want to read, but ... I don't want to see.

The first link only has one (small) startling photo. The rest of the photos show a chubby, smiley little girl who looks like she got into Mommy's moisturizer and went overboard. (She's a little shiny.)

She's cute, and there's nothing to be afraid of there.
posted by MissySedai at 10:46 AM on December 12, 2012 [7 favorites]

I don't know. All I saw was a well-loved, well cared for baby who has a disease that I wasn't aware of until today

Some of the photos from the start of the blog can be a bit difficult to see --- but to me they are difficult because it isn't fair that any baby should go through all of that, not because of her appearance. And it's amazing to watch how she improves in just a few weeks.

That is one special little lady.
posted by zizzle at 11:35 AM on December 12, 2012 [2 favorites]

I encourage you to watch this video about Hunter Steinitz (it is referenced in the first link), who was 14 at the time it was made (its from a National Geographic program). Its minimally gory and she's such a positive, open person that you'll likely feel there's more hope for little Brenna.

Lifelong diseases like this require constant treatment and expense. I don't begrudge any family with a member going through something like this from trying to raise additional money through books, fundraisers or what-have-you.
posted by Joey Michaels at 11:44 AM on December 12, 2012 [2 favorites]

I have moderate psoriasis on my body. Not terrible, but enough scaliness to turn heads when I wear shorts and a t-shirt.

I feel I should send a herald ahead of me at the beach to announce a possibly upsetting human coming through, so people can turn their heads before they have to suffer.

With intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

This is just heartbreaking.
posted by Conductor71 at 12:28 PM on December 12, 2012 [1 favorite]

Hi, all. I might as well come out here on Metafilter.

I certainly don't want to steal any of Courtney's thunder or to threadjack here with my self-links, but I think this is ok...

I'm Rachel, a MeFi member for many years (have attended multiple meetups, heh). I am one of the co-authors of the Confetti Skin, Beauty Within blog. I am affected with a severe form of ichthyosis, as are three of my children, and my family is very active in FIRST, the Foundation for Ichthyosis and Related Skin Types.

Courtney, Brenna's mom, was kind enough to participate in a series of guest posts on our blog, in which we have had people affected by harlequin ichthyosis write about their experiences. Today's post is from a mom whose toddler has harlequin ichthyosis (and who is a few years older than Brenna). We will have a guest post from our friend Hunter in a few weeks.

Note that in the earliest post in that series, from a mom with an infant with harlequin ichthyosis, she was told that she should prepare for her baby to die. (Baby's doing fine now, thankyouverymuch.)

Sadly, there are infants born with harlequin ichthyosis who do not receive appropriate medical care. It is not a death sentence, but it can still be fatal if the doctors don't know what they're doing, or if things just go wrong. (And there are many things that can go wrong, including but not limited to sepsis, etc.)

Harlequin ichthyosis is the most severe form of ichthyosis. FIRST just publicized a study from a few months ago, which says that there are between 200 and 400 cases of babies born with moderate to severe forms of ichthyosis in the United States each year. (Link goes to press release on Facebook, sorry.) For less severe types of ichthyosis, such as ichthoysis vulgaris or X-linked ichthyosis, the incidence rate is 16,000 per year in the US.

FIRST funds cutting-edge research into ichthyosis treatments and therapies. One of the latest research grants went to a doctor at Northwestern who is using siRNA bound to a gold nanoparticle, and is delivering the mixture via a topical ointment. (We like to call it "nanotech ointment".) It's way-cool stuff.
posted by QuantumMeruit at 12:32 PM on December 12, 2012 [46 favorites]

Upthread surplus asked, "Does ichthyosis result in a higher susceptibility to other infections? (I'm wondering if the broken skin allows easier entry of pathogens.)"

Infants born with autosomal recessive congenital ichthyosis (ARCI) are at a high risk for sepsis. As the skin dries out, there's a lot of infection risk there.

For infants with harlequin ichthyosis, the most severe form of ARCI, nutrition is a big problem, too. Generally, they are burning through calories at a really high rate, and problems with the baby's lips can make natural feeding really problematic. (We discuss some of this in our blog post about the science of harlequin ichthyosis.)

In some cases, increased survival rates for infants born with harlequin ichthyosis is through the early application of retinoids (such as isotretin, a/k/a Accutane), which tend to help the skin. However, I think that better NICU treatment and the ability (and awareness) about some of the sepsis and nutrition issues has also contributed.

Besides those issues, the process of a natural birth can also really damage the already-fragile baby's skin. So you have major skin issues, with big open sores caused by whatever -- yeah, infection is a major risk.

Regarding barrier issues outside of neonatal care, one of the commonalities across all forms of moderate to severe forms of ichthyosis is that there's a higher degree of transepidermal water loss. I have higher-than-normal calorie requirements just from that -- the docs tell me I'm losing the equivalent of a cheeseburger's worth of energy through my skin each day.
posted by QuantumMeruit at 12:47 PM on December 12, 2012 [7 favorites]

Proposing thatQuantumMeruit's comment be added to the sidebar. Thank you so much for the additional links and insight!
posted by Joey Michaels at 1:08 PM on December 12, 2012 [5 favorites]

Blessed? Our definitions of "Blessed" differ.
posted by CarlRossi at 1:23 PM on December 12, 2012

Blessed? Our definitions of "Blessed" differ.
posted by CarlRossi at 4:23 PM on December 12

Well, you're not her parents. They clearly feel blessed by having her in their lives in spite of her condition, so I don't think your definition matters as it pertains to their lives and their daughter and their feelings about their daughter.
posted by zizzle at 1:59 PM on December 12, 2012 [16 favorites]

The description in the federal government sponsored page reminded me of pangolins:
Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures).
And I'm not the only one:
Known as the "Pangolin Woman," Chang Sih-mei, an overseas Chinese from Malaysia, arrived in Taipei last week to receive free medical treatment al the Chang Gung Memorial Hospital for ichthyosis, a rare and severe skin disease which has disfigured her whole body
But I couldn't find whether a mutation in a corresponding gene is involved.
posted by jamjam at 4:05 PM on December 12, 2012

There is a young woman in Melbourne who has this condition, I see her on the train every now and then. Coincidentally, when I picked up this month's issue of Frankie Magazine this morning, I discovered an interview with her inside. It's a short but sweet read if anyone is interested in picking up a copy and she also has a blog.
posted by Wantok at 5:11 PM on December 12, 2012 [1 favorite]

Hello there - Brenna's mom/blog author here. I thought I'd join in the conversation after someone alerted me to the discussion. Of course my initial response is to get a little defensive, but I know that this is reality when we put our story out into the public eye...and I do appreciate that the conversation has been pretty positive for the most part! I realize that newborns with Harlequin can be hard to look at...but these are our children, and we love them very much. I believe that people tend to judge when they are ignorant and I hope that by sharing our family's story that others will learn more about ichthyosis and about physical differences in general, and hopefully not be cruel or insensitive to those who are different. (As for writing a would sure be savvy if I had a book deal ;) For now I am just writing! I have a journalism degree, so writing is what I do.) We truly are blessed - we have an incredible daughter who makes us so happy every day and we believe she was chosen specifically for our family. Yes, our lives are challenging now, and her skin care/health care can be very overwhelming. But she has enriched our lives, deepened our ability to love and strengthened our faith in God...I don't know of a greater blessing than that!
posted by CKray at 5:58 PM on December 12, 2012 [32 favorites]

CKray, I think she is beautiful!

There was a picture of her from February with her tongue sticking out and I couldn't get over how cute that picture was. She's darling all over, and I want to nom nom her cheeks --- that is if it won't be harmful of course.

Also, since you are the subject of the post, the mods may refund you the membership fee for joining since you joined to responds to the post about your blog. I think this has been done before.
posted by zizzle at 6:30 PM on December 12, 2012 [1 favorite]

CKray, Those were my intentions in posting here; your blog is so moving and so well written that I just see a baby and a success story in progress. I didn't think it would be seen as disrespectful to pass on your own version of your story.
posted by Occula at 7:17 PM on December 12, 2012 [1 favorite]

Welcome to MeFi, CKray, and happy birthday to Brenna! I'm enjoying the blog and photos of your adorable daughter and son -- thanks for sharing your family's experiences.
posted by FelliniBlank at 7:26 PM on December 12, 2012

CKray, glad you jumped in. Come in for the post about you, stay for everything else! :)

Speaking as the parent of children affected by ichthyosis (albeit not as severe as Brenna), I think my own children are a blessing. We have our ups and downs (just like any other parents, I think), and the skin does contribute to a lot of the downs. If you're part of the camp that says that children are a blessing, then how does the fact that the child has a life-threatening health condition make the "good" moments you have any less valid? We have to take the good along with the bad, of course. But our good moments are just as much of a blessing as the good moments with a healthy child.

Responding to some other points --

jamjam, thanks for the reference to the pangolins. I was not familiar with that term. From the article you linked, that certainly sounds like harlequin ichthyosis to me.

Not sure if this is what you were asking, but harlequin ichthyosis has been linked to a mutation in the ABCA12 gene. We prepared a pretty detailed chart of ichthyosis type nomenclature and genotypes; it doesn't even attempt to start in on the syndromic types, though. As you can see on that chart, other forms of ichthoysis are linked to totally different genes.

For instance, lamellar ichthoysis (a type of autosomal recessive congenital ichthyosis, slightly more common than harlequin ichthoysis and in many ways less severe, but with many similar issues) is usually associated with TGM1 mutations, although there are variants of lamellar ichthyosis that are not TGM1 mutations. The type I have is a KRT mutation, but the paper with those results has not been published (yet).

And there are several people who almost certainly have some type of ichthyosis, but who do not (yet) have a genetic diagnosis. Research is not as well-funded as we'd hope for it to be, although there is one major project here in the US which has gotten a genetic diagnosis for several dozen affected people.

Wantok, yes, Carly's a friend of ours, too. And, just to be pedantic, Carly has a type of ichthoysis called congenital ichthyotic erythroderma (CIE), which is related to harlequin ichthoysis but is not the same. Ichthyosis is challenging that way -- you have lots of broad similarities, but a wide range of forms with varying degrees of severity.
posted by QuantumMeruit at 8:20 PM on December 12, 2012 [1 favorite]

I understand the response of people wanting to avoid pictures, trying to avoid seeing a small child in pain. But for the most part of what I've seen, these are joyful pictures of a happy little child, and she doesn't deserve to be treated like a monster. It really saddens me to picture her getting that reaction her whole life.
posted by BurnChao at 9:12 PM on December 12, 2012 [2 favorites]

As someone who has moderate plaque psoriasis (arms, legs, and other less visible skin): people really do stare and edge away from me in public places like the subway or buses. I really, really wish that people were better educated about things like ichthyosis.

So, if you see me at a meetup, feel free to ask to take a look at my psoriasis so you'll know what it looks like. You're welcome to ask questions - although I'm getting a bit burnt out on unsolicited medical advice, even though it is usually well meaning.

And I keep getting the urge to make t-shirts that say something like "Chill out, it isn't contagious" or "No, it isn't leprosy", or "Dude, it's a genetic disease. The only way you could get it is if your momma went back in time and slept with my daddy; and he's got standards so it ain't never gonna happen."

So love to Brenna and all the other people with funky skin out there. And love to our families and friends who deal with this in one way or another. We're part of a big brotherhood and sisterhood and we've got a lot of people who don't understand to educate.
posted by sciencegeek at 4:14 AM on December 13, 2012 [5 favorites]

Oops, egg on my face for being pedantic. Carly has Netherton's Syndrome, not CIE.

Sciencegeek, my favorite drive-by is, "Wow, your skin is really dry, have you tried putting some lotion on it?"

I remember hearing someone (maybe it was Carly) say that a person walked up to them and said, "Wow, someone has a sunburn!" The response? "Wow, someone has no manners!" Fun times.
posted by QuantumMeruit at 7:29 AM on December 13, 2012

My most popular drive-bys are: is that poison ivy, sunburn, or road rash. I've had people lecture me on wearing sunscreen. Ironically, one of the treatments for psoriasis is UV light.

I work in a public garden in a high tourist density area and the questions and comments are frequent. I keep trying to remember that every person who asks is an opportunity to educate. And hopefully one less person staring in the future.
posted by sciencegeek at 3:46 PM on December 13, 2012 [1 favorite]

I'm reading this on a day when my currently unmedicated severe psoriasis has me gulping vicodin. I feel for that poor kid in a quite a few ways (though I just can't read the blog - am uncomfortable enough as it is). Here's to her parents, who I hope can turn writing about this condition into a way to secure the best tx available.

Yeah, fellow psoriatics, I used to want a t-shirt that read, "No, it isn't catching; yes, it hurts; and no, I don't need to hear about how your cousin cured his eczema."

More than once I've been asked (by adults), "What's wrong with your skin?" I reply "Psoriasis. What's wrong with your manners?" Which, upon reading QuantumMeruit's post just above, isn't an uncommon answer.
posted by goofyfoot at 4:22 PM on December 14, 2012

I think everyone who looked at the blog last week really needs to go back and check out today's entry about Brenna's 1st birthday party.


Brenna's entire family is way too photogenic for their own good. :)
posted by QuantumMeruit at 1:23 PM on December 17, 2012

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