WebMD Highlights Story of Daughter Born with Harlequin Ichthyosis

Courtney Westlake is a patient advocate and volunteer for FIRST, Foundation for Ichthyosis & Related Skin Types. Her 2 year-old daughter, Brenna, is affected with Harlequin ichthyosis, a rare and severe skin condition. Courtney shares personal insights, clinical explanations of ichthyosis, and updates to Brenna’s progress in her blog, Blessed by Brenna.

My daughter, Brenna, was born with a rare and severe skin condition called Harlequin ichthyosis, which causes her skin to form in thick, tight plates with deep fissures. The condition makes her very susceptible to bacterial skin infections and dehydration and unable to regulate her own body temperature– she can’t even sweat. Harlequin ichthyosis is so severe that many babies born with it die within the first few days of life. Brenna survived, but spent her first five weeks in the neonatal intensive care unit and was hospitalized four additional times for infections and dehydration during her first year of life.

That very difficult time pushed me deep into the trenches of survival mode. Life continued around me at lightning speed, but all that I could focus on was whether my child would live.

The first year of Brenna’s life, I often felt like I was being smothered. Smothered in grief, frustration, stress. My heart, though full of love for my family, was often heavy with the thoughts of the direction my life was going. At that time, I could see what I was giving up much more clearly than what I was gaining.

Brenna’s care was– and still can be– very overwhelming. We must coat her entire body in Aquaphor every few hours to keep her skin moist and comfortable. We give her a long daily bath where we exfoliate her skin, because her body produces skin about 10 times too fast, and skin scales build up without exfoliation (we also regularly add bleach to her bath to kill bacteria on her skin). And Brenna’s nutritional demands are enormous, as her body uses so many calories to make skin, which resulted in her having a g-tube placed in her stomach when she was eight months old.

All of this consumed me in the months following her birth, and I don’t remember much else. I was surviving, and that was the only option at the time. I lived 1 day at a time that year, maybe one week at a time during the better times.

But eventually time wore on…and we began to adjust. And I started to realize that I had a choice in how I moved forward: I could continue living day-to-day, or I could rise up and live both in the present and with a vision for the future. I realized that even though you may not be living the life you had planned, that shouldn’t stop you from living the life you were meant to.

I began to take steps to leave survival mode behind:

• Accept Help: First and most importantly, I accepted help. I don’t usually like to lean on others, but I knew that I needed a lot of help at this time. I relied so heavily on everyone in my life for help– meals, house cleaning, dry cleaning pick-up, babysitting, gift cards, grocery shopping, and more. And without this help, I know it would have taken me much longer to begin thriving again.
• Say No: I said no and stepped away from just about everything I had been involved with so that I could focus on my family. I’m a person who likes to be busy and says yes to everything, but I realized that saying no was vital at this time. I cut my work at my photography studio way back, I stepped away from volunteer roles with community organizations, and I quit most of my freelance writing jobs.
• Stick with a Routine: I forced myself to get dressed every morning and follow a schedule. We also have a son, Connor, who was 2 when Brenna was born, so finding a routine was positive for him, too.
• Focus on the Positive: I did my absolute best to focus on the positive and the good around me because I knew life would be much, much harder if I didn’t.

And I would say with complete certainty that every morning I got dressed, every time I focused on what we could do instead of what we couldn’t do, every time I made myself smile instead of cry, it was worth it.

I found that I was no longer feeling like I was giving things up, but instead, it felt like I was being pulled in new directions, better directions. And I could follow those new paths by choosing the best attitude every day, by choosing to live with intention, by goal-setting again, by using my time wisely.

Brenna turned 2-years-old in December 2013. Gratefully, even though Brenna’s health is obviously a top priority for our family, our lives are now becoming much fuller with other passions and priorities that we have. I’ve been able to step back into some of my former roles, and I’ve chosen some new ones, too– like becoming involved in FIRST to help raise awareness of Harlequin ichthyosis. I am no longer simply surviving, but I am living with intention and purpose again…and much more so than before Brenna’s birth because of the wonderful lessons she has taught me about how beautiful different can be. Now that I have stopped mourning the loss of the life I had planned, I am discovering every day that the life I am meant to live is so much better.

Each year, more than 16,000 babies are born with some form of ichthyosis. Of those, approximately 300 are born with a moderate to severe form. Since ichthyosis is a rare genetic skin disorder, it often does not receive the attention or funding necessary for sustained progress toward a cure. This blog is featured as a part of Ichthyosis Awareness Month, which is celebrated in May. To learn more, visit the FIRST, Foundation for Ichthyosis & Related Skin Types, Inc. website.