My day job involves reading a lot of scientific publication about research that uses mouse mutants to study gene function and model human diseases. It's a lot more interesting than that makes it sound. I've always been fascinated by disease and the genetic causes of hereditary diseases.
While I was pregnant, everyday I had a particularly sobering reminder of how fragile life is and how much we take for health granted. Even though a MaterniT21 test had cleared my lil Miss Bean of over twenty common genetic abnormalities, I knew there were far more that weren't tested for and wouldn't necessarily be visible on an ultrasound.
Recently, I was search for information to share about keratosis pilaris. It is a largely benign skin condition. Lil Miss Bean has it on her cheeks. I've been diligently cleaning her face with AHA containing cleanser and miniaturizing with coconut cream to reduce the white bumps that form when there is a build up of keratin around the hair follicles. Having suffered through a severe bout of eczema on my hands that left me with no finger prints as my skin scaled and peeled off, I'm sensitive to how painful not having an intact skin barrier can be.
During a Google search gone ary, I came across an image and video of a newborn with harlequin ichthyosis (HI). I was familiar with this disease because last year I annotated a mouse model of HI with a mutation in Abca12. However, I did know that HI babies survived being born with a layer of skin that is so tight that it restricts growths and forms plates that crack and fissure leaving them exposed to dehydration and infection.
I can't imagine the heartbreak of parents who would have no way of knowing their baby was even at risk for HI resulting in being born unable to be held directly and needed a lot of medical intervention to even have a chance at surviving.
Another Google search led me to a Facebook HI awareness page (visit and like to show them some live). Imagine my surprise when I saw Brenna's smiling face. She has her own Facebook page (Blessed by Brenna) if you want to learn more about her amazing story. This little girl and her family are an inspiration not only for having to deal with a horrible disease but for reminding the world that no matter what the hardship and challenges sick children and their families face they are still people just like you and me.