epidermolysis bullosa

20 Jan

We’re going through a little patch of separation anxiety.  It kind of comes and goes on a monthly basis.  When I was studying for boards in December (btw, I passed–officially done with uber long computerized tests for the rest of med school!), Aurelia could not be happier about being left at daycare.  She would squirm out of my arms, anxious to go play on the foam wedge things, and would wave bye-bye to me when I hit the doorway (actually the gesture was almost more like a shooing, as if to say, “okay, okay, get out of here already, and let’s get this party started!”).

But one of our harder days was last week, when I was assigned to an out-patient clinic in the suburbs and therefore had time to drop her off at daycare myself.  Aurelia happily took my hand, guided me around the room, babbling as though explaining to me what the different toys did.  As soon as she seemed distracted and I went to leave, she scrambled back to me crying and took hold of my legs with both arms.  When one of her caretakers came to get her, she struggled furiously, extended her arms toward me, and cried fat, heart-wrenching tears that made tears leap to my eyes as well–you would think that by 15 months we’d both be better at this.  A special woman at daycare was kind enough to send me photos as proof that she really does adjust and get happy/curious about 30 seconds after I leave.

IMG_0999 IMG_5670

And it’s probably pregnancy + new schedule/adjustments, but I’ve been more emotional recently–oh my goodness, facebook friends, please stop posting stuff (happy, sad, encouraging) about children or cute little animals.  Cannot. Stop. Crying.  When I’m in one of my fits related to Aurelia, John reminds me, “She’s not suffering.”  While I know there’s a great deal on the spectrum between happiness and misery, sometimes seeing some of the really sick children on service helps put things in perspective, and makes me feel a little less horrible about Aurelia’s “not suffering” tears when we part each morning.

Oh god, I feel awful including this next anecdote in the same post, as though somehow relating run-of-the-mill separation anxiety with true illness and loss.  I’m not.  It’s just where I am this morning.

I’ve now seen several children with epidermolysis bullosa (EB), a group of inherited connective tissue disorders characterized by marked mechanical fragility of the skin (and other epithelial tissues) with blistering and erosions following minimal trauma (wearing shoes or even clothing, for example).  They are typically due to certain mutations of keratin, laminin, or collagen (all structural proteins).  Depending on the protein and, therefore, the level or juncture of skin/epithelium affected, symptoms range from somewhat controllable blistering of the diaper and foot areas with little to no change of life expectancy, to diffuse painful blistering, infection and sepsis, esophageal strictures, reabsorption of fingers and toes, respiratory failure with death likely during infancy.

I met a sweet girl who, although not at the extreme end of severity spectrum, was in horrible pain due to persistent blistering.  She is at high risk of developing squamous cell carcinoma (a common cancer in the EB population).  Mortality is often within a year of diagnosis of this cancer.  She is well-loved and has a huge team of health care professionals working to improve her life and minimize pain.  I am very thankful that we have drugs that, although not always adequate and certainly not perfect, can lessen misery.

And so I come home in the evening and my healthy girl clumsily runs at me, happily colliding “full” speed into my legs if I don’t get down to her level quickly enough.  She has a cough that’s lingering, mild eczema on her upper lip from a persistently runny nose, and she now often wakes up with pieces of hair glued to her cheek with snot.  The next day, I know she’ll protest and scream and cry fat tears when I leave to go to clinic.  But I know that she’s not suffering.  The children who are and their parents, they are heroes and inspirations beyond comprehension.  I truly don’t know how they do it.

 

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4 Responses to “epidermolysis bullosa”

  1. irefuseeb January 22, 2014 at 9:36 am #

    As an advocate for those with EB, thank you for mentioning it in your blog. Along with research funding, awareness is so incredibly vital. The more people who become aware and educated, the more support that this rare disease can garner and that means the potential for more funding. Thank you again!

  2. Melissia January 31, 2014 at 6:40 am #

    My children and I have Ehler-Danlos Syndrome, a connective tissue disorder that also causes tissue fragility and chronic pain. Thank you so much for bringing awareness to these types of diseases. Having a compassionate physician who is aware of the special needs of these patients is so important, and I know that your patients and their parents appreciate your care.

  3. cosmetic surgery brisbane February 9, 2014 at 7:18 pm #

    Excellent write-up. I absolutely love this website.

    Stick with it!

  4. fishertfjk.kazeo.com April 21, 2014 at 11:53 am #

    Greetings! Very helpful advice in this particular article!
    It is the little changes that will make the greatest changes.

    Thanks a lot for sharing!

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