Blessed by Brenna: the book - official diagnosis

*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 here. Thank you for sharing our story this past year.

Our precious daughter is only in our hospital room for minutes before the neonatologist, Dr. Darling, enters, briskly wraps a couple of blankets around her and rushes her out to the nursery. Soon Dr. Darling returns to sit at my bedside, and with big blue eyes full of compassion and concern, she tells us that they believe our baby has a skin condition called lamellar ichthyosis.

Her words mean nothing to me, and in my uneducated mind, I comfort myself: ‘She will look different, so what? I can handle this. When can she come home? Will she be home by Christmas?’

My own ob/gyn, Dr. Brown, has also rushed over from her office across the street to be with us, and I try to smile at her as she takes my hand. Her usually warm face looks so grave and concerned that I immediately realize that maybe this is a bit more serious than I originally thought.

In an hour’s time, a transport team arrives to take our daughter to the nearby St. John’s Hospital neonatal intensive care unit. Their faces are kind as the two transporters encourage us to reach through the tiny holes on the large, imposing incubator – which seems to take up the space of half of my hospital room – and touch her.

Evan and I gently place our fingers on her tiny, contracted hands and arms, which feel waxy and hard. I can see that even after wiping off the usual post-birth fluids, our precious baby looks barely different than at birth, if not worse. But it’s not even until I see photos taken by Evan that night at the NICU that my chest contracts with fear and heartbreak.

In my room, however, my vision is obstructed by thick tears, and our voices choke out words barely above a whisper:

“Hi baby. We love you. We love you so much.”

A photo text is sent to the city’s only pediatric dermatologist, who takes one look and diagnoses our daughter with a severe genetic skin condition. Not lamellar ichthyosis, as the neonatologist first believed, but another form of ichthyosis - so extremely rare that the number living in the world with it is estimated at about 100.

Harlequin ichthyosis.

Two words that will forever alter the course of our lives and our family’s lives. Two words that will change the way I look at skin, at outward appearances and at self-esteem, self-image and positive attitudes. Two words that eventually have a profound impact on our faith in God and the power of prayer.

Evan and I decide from the moment we learned of our daughter’s condition that we will stay away from the Internet. We want all information about the condition, treatment and outlook to come from our doctors. In the shocked and unstable condition we are in, we feel it best not to read survival rates, see photos of other children with the condition and in general, view anything cruel or negative concerning Harlequin ichthyosis.

We want to take in any information in small and manageable amounts, and we want to hear from our doctors who are treating our child specifically.

We are told that Dr. Conlon, the pediatric dermatologist, will come to see our baby at the NICU, so Evan meets him there. Fortunately the hospitals are only a few blocks from each other.

Before departing for the NICU, Evan and I are left alone for the first time and realize we need to choose a name for the angel that God has placed in our lives. We run through our list of top choices: Jaclyn…no. Leah…no. A few others get cut before we come to Brenna, and immediately we know that she is Brenna. Our middle name has been an almost certain selection for months: Helen Marie, after my two grandmothers.

Brenna Helen Marie.

The name of a fighter.

I meet Brenna’s dermatologist that night as he makes the trip to my hospital room with Evan and both sets of our parents for our first of many, many meetings. Dr. Conlon is one of only about 200 pediatric dermatologists in the country – a “rare bird,” he calls himself. I feel at this point that God is looking out for us, to place a pediatric dermatologist to our mid-sized town when we wouldn't have had one otherwise.

It is here that I hear Dr. Conlon first say the words: Harlequin ichthyosis. The most severe form of ichthyosis and the most fatal type…highly fatal in fact, though Dr. Conlon doesn’t mention any of this during our initial meeting.

He is realistic but very optimistic as well. He tells our small, emotional group that we will let Brenna take things at her own pace. We grill him with questions, and I am specifically concerned with how long she will have to stay at the NICU. At this point, I am aware only that Brenna’s skin is different. In my mind, this means she will look different and poses no other health risks.

I don’t understand why Brenna’s condition is so serious, and I am so frustrated that Dr. Conlon can’t tell us when Brenna will be “better” and when she will be able to come home. Evan tells me later that Dr. Conlon is especially non-committal about Brenna’s prognosis because of my post-partum emotions.

I am encouraged by all doctors involved to spend the night at the hospital that night, and I don’t argue. Evan quickly agrees to stay with me, and Evan’s parents head home to keep Connor overnight.

Thankfully because Brenna’s birth was so easy, I have very little post-birth pains. I am walking comfortably less than an hour after birth and don’t even notice the pains from uterine contractions. I am very concerned with pumping breastmilk for my new baby, but the hospital staff is much less so. The visibly upset nurses tell me to take the night off and just sleep.

I am so anxious to check out of the hospital in the morning and to see my precious baby. But I am feeling fairly level-headed, and I know that I can't neglect my own health either.

Finally around noon the next day – less than 24 hours after giving birth - I am wheeled down to the lobby by a hospital volunteer, clutching to my hospital bags still full of brand-new baby outfits and blankets. As we drive away from the hospital, I try to ignore the fact that our backseat is empty where there should be a baby carefully buckled into her car seat.

The fourth floor neonatal intensive care unit of the St. John’s Children’s Hospital is so foreign to me. Phones hang on the walls so that parents and relatives can telephone into the nurses to make sure it is OK to come visit their babies. Sinks are lined next to the phones, and visitors are required to wash with soap and warm water up to their elbows before entering the unit. It is a sterile environment, and there are many regulations to ensure the utmost cleanliness for the tiny, vulnerable babies.

Evan leads me around the corner from the front desk to one of the end rooms in the unit, a small isolation pod that is Brenna’s new home.

My stomach turns to knots as I step to the tiny incubator where Brenna lies naked except for a wrap around her leg that alerts medical staff to her lung saturation (breathing) levels. Though I try to ignore any negative thoughts, my chest is tightening at the sight of my daughter.

Every vision I’ve ever had of my future, of my “perfect” family, of my little girl with bouncy blond pigtails, completely vanishes. How could we not have known something was so wrong with our baby? How could we have had such a blissful pregnancy when our daughter was forming like this inside me? It is the first time I get a real, clear look at my new baby girl, and I am physically aching at the sight.

Brenna is covered in a ghost-white skin that is formed more like armor shields than a whole covering across her body. Cutting through the thick white plaques are deep fissures that are so red and angry I can’t stand to think about how painful they must feel.

I can barely make out the outline of her ears because the skin is so thick; ear canals are impossible to see. The skin has pulled her face so tightly that her facial features are deformed – her lips pulled taut and puffy and her eyelids flipped inside out, leaving only inflamed, swollen redness exposed where her big beautiful eyeballs should be.

Brenna lies rigid on her flattened bed, having been laid on her side for the time being. Her fingers and toes are tightly balled up and conjoined by the skin. The thicker white skin that covers her head, limbs and upper torso gives way to fissured skin at her lower belly and groin area that is so red and raw that it almost looks bloody.

But most worrisome to me as I analyze every facet of my daughter’s outward appearance is the taut skin across her chest and stomach, which causes her breaths to come in rapidly and shallow...skin wrapping her chest so tightly that she can't even take a deep breath.

“Oh sweetie, I'm so sorry,” I exhale in anguish, and I make no effort to stop the hot tears that begin rolling down my cheeks.

To be continued…