Brenna’s skin condition, Harlequin Ichthyosis, is so rare that most people have never heard of it – so everyone has questions! Here are some questions that we receive on a regular basis…
1. What IS Harlequin Ichthyosis?
Harlequin Ichthyosis (pronounced Har-la-kwin Ick-thee-oh-sis) is a very rare genetic skin disorder. It’s the most severe type of ichthyosis, and it’s life-long. Basically, there is an error in Brenna’s genetic code that helps produce skin. To try to make up for this, Brenna’s body makes too much skin and can’t shed it quickly enough – leaving her with very thick, dry and peeling skin. (For more information about ichthyosis, visit the Foundation for Ichthyosis and Related Skin Types.)
2. Is Brenna in pain?
On a day-to-day basis, no. Brenna’s skin can get very uncomfortable when it is dry, and extremely itchy. But by applying Aquaphor all over her body 4 to 5 times a day, and taking a long bath where we help exfoliate her extra skin, we can minimize any discomfort. Her skin definitely hurts when she gets a skin infection, or when she is otherwise not feeling well.
3. What are the biggest issues or major effects of her condition on her body?
Her condition affects so much of her body; it is not just aesthetic. Brenna’s skin has a hard time doing jobs like regulating her body temperature, keeping her hydrated and keeping germs out, so she can get skin infections much more easily than the average person. She also must eat a huge amount of calories because her body uses so many of those calories to make extra skin.
Brenna’s skin does not easily stretch, so she has a tough time with gross and fine motor activities (being extremely small doesn’t help either). Her condition does not affect her mentally, though.
4. Why does Brenna wear hats?
Because she looks so cute! 🙂 Hats are not a necessity, but they do help keep Aquaphor on her head, minimize her itching her head, and help keep her warm, because she tends to feel cold. And she likes them!
5. What is all the concern with outdoors and the heat? Can Brenna wear sunscreen/be in the sun?
Heat is a big concern because Brenna can’t physically sweat – her skin won’t allow sweat out, so she can overheat very easily when it is warm. Brenna can wear sunscreen and be in the sun, but only when it is not too hot. We use a cooling vest to help keep her cool if the temperature outside is higher than about 82 degrees.
6. Why does she need a bath every day?
Brenna takes a long daily bath so that her skin can soak up the moisture. Her skin softens in the water, and then we can gently rub off the extra skin that has built up but isn’t shedding on its own yet. Brenna’s baths keep her very comfortable and moisturized!
7. What is the prognosis with Harlequin Ichthyosis?
The oldest living person with Brenna’s condition is 32 (in England). That is because babies born before that simply didn’t survive, but medical knowledge and technology has advanced so much in recent years. There is a lot of hope for Brenna’s future, as evidenced by the adults living with the condition who are thriving – from Hunter going to college and studying abroad to Stephanie getting married and having two kids!