Brenna Helen Marie was born on December 19, 2011 at 2:30 p.m., weighing 5 lbs, 11 oz. She was born at 36.5 weeks, and we were so excited that she was arriving before Christmas. My labor was quick - my water broke about 9:45, I headed to the hospital at 10:30, and she was born at 2:30 - and the delivery was SO easy as compared to my first with my 2-year-old son Connor. But immediately when Brenna was born, it was very obvious that something was wrong.
Brenna was born with Harlequin Ichthyosis, which is a very rare and extremely serious skin disease. Basically, her skin lacks a certain protein which helps it form correctly, and instead it was formed as thick, white-ish scales with ridges all over. It is so thick that it is very tight and keeps her from moving very much. The tightness in her skin caused her eyelids to be pulled outwards, so that they are almost inside out, her ears are pulled tight against her head, her nose is turned up and her lips are pulled outwards as well. While her physical appearance is definitely startling, we think she is one beautiful girl.
Because her skin lacks this protein, it cannot retain moisture like normal skin, nor can it regulate her body temperature as our skin does, so she must be kept in a very warm and moist environment in the NICU at St. John's Hospital. They are closely monitoring her temperature and humidity levels in her incubator and have to have everything sealed unless they absolutely must open one of her "doors" to feed her, apply ointment, etc.
Most likely, it was caused by both my husband Evan and I carrying the recessive gene for this condition - which is literally a 1 in a million chance for us both to have it.
Right now, Brenna's biggest risk is infection, because she has such a high susceptibility, and it will be a very big challenge to both avoid infection and treat it if it does occur. We have begun aggressive treatment with a medicine that will help her skin "turn over" more quickly. We are so fortunate to have a wonderful pediatric dermatologist right here in Springfield (which is a rarity), and based on the very few cases there are like Brenna's, this course of action will help her shed the very thick scales and be left with a more reddish, flaky skin if it is successful. There will be a lot for her to overcome to get to that point, and it will take months at minimum.
Through it all, however, our priority is pain management and we want to make sure Brenna is as comfortable as possible and not in much pain. There are so many what ifs that we are just ready to take this day by day to see how she does, and to cherish each second we get to spend with her.
We found this video online about a teenage girl who is living with Harlequin Ichthyosis in the U.S., and we found it so helpful in understanding what is happening with Brenna's skin and to understand what a vital role our skin plays to our body, which is why this condition is so serious and not just an aesthetic issue.
(scroll down a bit past the ad)
Above all, Evan and I feel so proud and honored that God chose us to be the parents of this special girl. We have so much love for her already and know that whatever is to come, she has already made such an important impact on our family.