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"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".

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

Rachel’s Misdiagnosis Saga: Lamellar Ichthyosis

As a young child, I was diagnosed with congenital lamellar ichthyosis (now classified as a type of autosomal recessive congenital ichthyosis (ARCI)). I dutifully parroted that diagnosis to any adult who asked (and even helpfully spelled it out). When confronted with skepticism that I didn’t exactly match up with others who had lamellar ichthyosis, I dismissed that skepticism with, “Well, I’m really fortunate that I have a very mild case of it.”

Today, in 2013, I not only have hindsight of that (mis)diagnosis, but also the knowledge that the connectedness of the Internet and the work of great organizations such as FIRST has provided. The diagnostic tools available in 2013 are also vastly superior to what was available in the 1970s and 1980s, when I was growing up. And programs like Dr. Choate’s ongoing genetics study and FIRST’s Tele-Ichthyosis program are increasing the reach and depth of our specialists.

So I’m blogging about this issue not to blame my childhood physicians or my parents (or even myself), but rather to examine what the mistakes were, and what frame of mind led to those mistakes and how others in a similar situation might be able to avoid similar mistakes in the future.

I’m not exactly sure how my (mis)diagnosis occurred. The dermatologist I saw as a child retired decades ago, and those records are long gone. My parents’ memories of the specifics have faded with time, and the lawyer in me is skeptical about a lot of what they do remember. I do remember that as a very young child, I had a memorably painful skin biopsy on the heel of my foot. (I think I put up a pretty vigorous fight!)

Thinking back to my childhood diagnosis, it’s really not surprising that the dermatologist concluded that I had some type of ichthyosis. My hands and feet had thick scaling, and my neck, thighs and arms had very dark, blotchy scales. I had pretty thick scales in my scalp, too. I can see how someone looking at those areas of my skin could say, “That seems pretty close to a picture of lamellar ichthyosis.”

Based on testing that occurred when I was an adult, we now know that an examination of a skin biopsy from me, conducted by a knowledgeable person, could have shown that my skin was not consistent with a diagnosis of lamellar ichthyosis. (Although I’m not quite sure how widely available any ichthyosis experts were back in the early 1980s!)

The bottom line is that at some point in my childhood, my dermatologist told my parents that I had lamellar ichthyosis. The way I see it, he either was confident in his (mis)diagnosis, or if he was not confident in the diagnosis, he was not able to explain any benefit to seeking more certainty in the diagnosis. So my parents either accepted the diagnosis without questioning it, or didn’t see any reason to incur the cost and hassle to get a more definite diagnosis.

Growing up, I knew that lamellar ichthyosis was very, very rare. I knew that it was a genetic disorder and that people couldn’t “catch” it from me. And I knew that it was a recessive disorder. I also “knew” that I had a relatively mild form of the disorder, and that I was very fortunate that my face wasn’t affected with severe scale, that my eyes weren’t severely affected, and that the skin buildup in my ears was manageable (all of which were things that I had been told affected others with lamellar). I had zero awareness of other types of ichthyosis, or a sense that it made sense for me (or anyone else) to understand those other types.

As a undergraduate student at Yale, I spent four years within walking distance of one of the world’s leading experts in ichthyosis. I remained blissfully unaware of that fact. In law school at Duke, I spent a morning in the genetics clinic talking to the genetics counselor about whether it made sense to get any testing for my then-fiance for what I knew to be a very rare, recessive skin disorder. It never went very far, partly because I was so confident that the odds of Jennifer being a carrier for lamellar were astronomically low. So it wasn’t a surprise that as a married adult, I had no great urgency in resolving unanswered questions about my diagnosis and genetics.

So in summary and hindsight, here are some of the errors that occurred:

Our dermatologist: Misdiagnosed his patient, and possibly did not seek out the available experts in the field, did not effectively communicate to the patient the need to keep up-to-speed regarding developments.

Parents: Accepted dermatologist’s (mis)diagnosis and did not fully understand either the possibility of a misdiagnosis or the full implications of the misdiagnosis.

Patient (me): Went through my childhood and adolescence convinced with the certainty that I knew my “correct” diagnosis, and, as an adult, I never questioned the source of that certainty, either. Nor did I have the flexibility of mind to contemplate the likelihood (or consequences) of a misdiagnosis.

2 comments to Rachel’s Misdiagnosis Saga: Lamellar Ichthyosis

  • Peggy Israel

    Rachel — same here. I was diagnosed with a biopsy & a regular microscope in 1981 by the head of dermatology at Barnes Hospital (Washington University) in St. Louis as having lamellar which is recessive. My first child, born 1989, had normal skin. So far so good. My second child, born 1991, had the skin disorder. At this point I knew the odds were that I was misdiagnosed. So in 1995, I went to Dr. Williams in San Francisco and she took more biopsies and used the electron microscope (an expensive luxury at the time) to diagnose CIE, a dominant condition. [As an aside, she got the diagnosis correct but told me over my protestation that the white spots were scar tissue — I told her it was normal skin — she could have beaten Dr. Choate to the punch if she had listened!) And you know what, if I had KNOWN in advance that I had a 50-50 chance of having a kid with CIE, as a young person I may have decided NOT to have children. But once I had one child with the condition, and everything was OK, I went ahead and had two more children, and one got the condition. So I have 4 great kids, 2 with the condition, and if I had been correctly diagnosed I would have missed out on that. I remember there was a 60 Minutes show about some lady with a genetic disorder that was dominant and she chose to have kids and there was a lot of discussion over whether that was a moral decision on her part. On the other side of that decision, I have to say that on a human level it is moral because life is a great thing for those who are alive. On a societal level, there is nothing in our condition that prevents us from being productive citizens of this world and our quality of life is pretty good on the whole. But that’s another topic for another day.

  • Sarah

    I was never misdiagnosed but I wasn’t diagnosed at all, until I was about 14 and hospitalized for 2.5 weeks in the burn ward isolation room. After becoming the main attraction for residents at the very hospital my Dad worked at I finally received a diagnosis.
    Bullous CIE became EHK when I moved to the United States, now the powers that be are changing the name again.
    I have always been me but my own name and the name of my skin condition have changed, a lot!

    I find it so ironic that you were a stone’s throw away from answers while at Yale. If only you had thrown the stone.

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