Blessed by Brenna: the book - sharing our story

*Each day this week - the week leading up to Brenna's first birthday next week - I'll be posting some excerpts from the first draft of my book that recall Brenna's birth day and first week of life. Read Part 1 and Part 2. Thank you for sharing our story this past year.

On Brenna’s third day of life, I am finally ready to face what I have avoided for almost 72 hours. I am finally willing to take our daughter’s diagnosis to Google, to see what the Internet has to say about a condition that has become so personal to us in a single instant with the birth of our baby.

Evan has been a bit more proactive in his research – having a more analytical mind, whereas I run on my emotions and my passions – and he first points me to a clip of a National Geographic episode that aired in 2010. One of the people featured in this program special, called “Extraordinary Humans: Skin,” is a 14-year-old girl named Hunter who is living with Harlequin ichthyosis in the United States.

We watch the 17-minute video together in silence, and we view Hunter poignantly describe what it has been like living with this severe condition and medical experts explain what exactly occurs in the skin with Harlequin ichthyosis. Our tears fall continuously throughout the episode, but our hearts are especially touched by the short clips that National Geographic shows of Hunter as a small child, toddling around with her beautiful bald head and giving her father kisses with her puffy lips. Moments like that seem almost impossible for us to envision for our own family at this point.

What little hope we have held onto in the delicate hours since Brenna’s birth suddenly comes alive as we see this teenager – wise beyond her years – living a good life and relatively healthy, despite her unique physical appearance, despite the risk of infection that she faces every day, despite the odds against her during the critical weeks following her birth.

Watching Hunter’s video becomes therapy for me and plays practically on repeat on my computer the next few weeks, especially when I am feeling particularly discouraged or hopeless.

I also pull up the Wikipedia page for Harlequin ichthyosis, which rattles off a lot of medical language about the missing protein that throws the body into skin-making overdrive and describes the shocking physical appearance of newborn babies with the condition.

I cringe when I read about the first time that the condition was written about, in 1750, in the diary of a cleric from Charleston, South Carolina, the Rev. Oliver Hart:

"On Thursday, April the 5th, 1750, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it.”

Because the condition is so rare, there is not much information to be found aside from the typical medical sites. Wikipedia and other medical pages paint a very bleak picture of immediate prognosis for babies born with Harlequin – words like fatal, life-threatening, and ‘rarely survive’ jump out at me with every click of the mouse.

The biggest issues associated with Harlequin at any stage of life are dehydration (because the skin doesn’t hold water in well), regulating body temperature, and infection (because the skin can’t keep bacteria out.) The severe condition of the skin causes many of these infants to die from excessive water loss or fatal infections, especially as the deep fissures in their skin at birth are easily penetrable for bacteria.

Just when I think my mind has a grasp on what is happening to us and to our daughter, more information is added and my head is left spinning and overwhelmed. As with the previous three days, I must bring myself to the present. Minute by minute, hour by hour…that is how we are facing the biggest challenge we likely ever will as a family.

“I think I want to start a blog,” I tell Evan, as we sit together on the couch that evening, our hearts simultaneously heavy and hopeful.

I have seen signs around the NICU promoting CaringBridge, a website that allows people to create an account to update family and friends about a loved one’s health situation. But I have experience with blogging, and I like the idea of having complete creative control in sharing this new story that has become our family’s journey.

I have been blogging in some way both personally and professionally since 2006. There are dozens of blogs written by others that I have aggregated in my Google Reader, and I figure that a blog will allow us to share all of the information that is coming at us like rounds of ammo.

Evan agrees, and we discuss how much information we are willing to share and whether or not to post her photos. We readily agree that she is our daughter, and we are not ashamed at how she looks, though we will carefully consider each picture before posting. None of the photos from Brenna's birth or first night will ever publicly be posted, and it is months before we ever even show them to anyone in person.

As we try to decide on a blog title that sums up the dramatic turn of event over the last few days and for the rest of our lives, it takes only minutes before a name slips out of my mouth: Blessed.

“Blessed by Brenna.”

I am at a loss as I think about compiling my first post, but I remember the email that Evan and I crafted to our very close friends and family members the previous night describing Brenna’s birth and diagnosis. It will be the perfect way to introduce the world to our daughter, so after some cutting and pasting and a little rewriting, my first post is complete.

My stomach is tight with nerves as I hit “publish”. A second later, my post is live.

Friday, December 23, 2011

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.

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.

To be continued…