Our guest post today is from Alicia, mom to Efrain, who is 6 months old.
Efrain was born via C-section on May 22, 2012 at 33 weeks, 1 day. Eleven days before, my water broke and I was hospitalized for monitoring. The doctors wanted to deliver the baby at 34 weeks, but the baby had enough after 11 days. Despite being on IVs and drinking as much as possible, I had no amniotic fluid. Efrain was in distress. His heart rate was dropping and they did not want to put us at risk for infection, so doctors told me on the morning of May 22 that I was going to be a mommy.
I wanted a normal delivery, without pain medication. The doctor said it was too risky to provoke labor, so a C-section was the only option we had. I was scared at first but my boyfriend was more worried than I was. I was just ready to see our little bundle of joy. I remember my mom, aunt, older sister and boyfriend were in the labor and delivery room with me most of the day. Each of them took turns to keep me company throughout the day. I was told that Efrain might have trouble breathing and crying, so there would be an emergency team in the operating room.
At 8 p.m., the nurses prepped me for surgery. I changed into a different gown and my mom braided my hair. I remember going into the operating room and shaking, mainly because of the spinal anesthesia. I am not afraid of needles; it was more that the anesthesia meant I was nearly done with my pregnancy journey. I was sad because I loved my big belly, but I was ready to see my little boy. At 8:42 p.m. Efrain was born with the loudest cry I’ve ever heard. He was born weighing in at 5lbs 1oz, measuring 18in. long.
As soon as I heard him cry, I cried and looked over at my boyfriend who also had tears in his eyes. He was holding my hand and smiling at me and said I did a good job. I saw a group of doctors that consisted of two neonatologists, a cardiac and respiratory team, and a few nurses surrounding my baby, as I had been warned. He didn’t have the respiratory problem they expected, but he did need to be rushed to the NICU for something else, something unexpected. It was something that changed my life, my boyfriend’s life and those involved forever.
One of the doctors was holding Efrain and he came over to us with a worried look. I was smiling when I saw him walking over to us. Efrain was wrapped in a hospital blanket. As soon as I saw his face my heart sank. The doctor said, “Skin and limb abnormality”. I asked Isaac why he was still covered with all that white stuff. I kept telling the doctors that he needed to be cleaned up. The doctor placed the baby in a bassinet and asked Isaac to follow behind him. Isaac was in complete shock and I started crying. I had to be cleaned up and sewed up and they started me on pain medication. As soon as the anesthesia wore off I was in so much pain that I almost forgot Efrain was sent to the NICU.
My mom was the first one to come into the recovery room and I saw her eyes full of tears. I asked her how the baby was. She said doing okay. I knew something was wrong but I was feeling dizzy and dozing off. Then I saw the doctor. He came up to the bedside and said he has some type of fatal condition. I can remember hearing “Harlequin Ichthyosis” and “He will not live past a few days”.
From then on, I was wide awake. I started bawling my eyes out with my mom. Isaac walked in, crying his heart out too. He said that Efrain didn’t look so good. He was stiff with a hard white membrane all over his body. He wasn’t able to move and it restricted his chest from moving up and down so he was put on an oxygen tank. My in-laws joined us, as did my aunt and older sister. We were all crying and they tried to calm me down because I just had major surgery and if I panicked I could open my own wound. So I tried as best as I could.
About an hour later, I needed to see him for myself, so a nurse pushed the hospital bed to the NICU room. They kept asking me if I was okay enough to see him because he did not look like any other baby. There he was: my little angel, sent from heaven. He had deep wounds all over his body. It looked like as if he was trapped in this extra layer of skin since he had very limited movement. His limbs looked really bent and his fingers were stuck together. His fists look like if he was trying to punch someone. His mouth looked like it was stretched open and he was not able to close it (eclabium). His eyelids were inside out (ectropion). This was all because of this thick white membrane.
Harlequin babies often die within a few days up to a few weeks after birth, because they are highly susceptible to infections of immediate death are dehydration, respiratory failure, and since they cannot regulate their own body temperature, hypothermia also plays a role in fatalities. But with advanced medical and rigorous skin care, infants born with this rare skin condition have higher chances of living up to a full life, even though prognosis is still unknown.
Since Efrain was not able to regulate his own body temperature, he was put in an incubator with a humidifier. His incubator and Aquaphor applied every 2-3 hours kept his skin moist because if he were to dry out, his wounds would deepen and it would be painful for him. The moisture was also necessary for him to move and breathe. To prevent infection, his incubator was closed off from the room environment, except to be fed, changed, or when nurses were applying the healing ointment.
I could not sleep that night from the surgery pain and just thinking about my son. Later that night, my son was transferred to a major hospital in Los Angeles. Our regional hospital had little knowledge of this skin condition, since no other babies born at that hospital had been born with this skin condition or anything like it. Los Angeles had all the specialists and experience with rare medical conditions. An ambulance took him and I had to say goodbye, not knowing whether I would see my baby alive again.
The next installment of Alicia’s story will be posted on November 21.
And as a reminder, we are not doctors or medical professionals. A doctor or nurse looking to confirm or consult on a diagnosis of harlequin ichthyosis should immediately contact FIRST, the Foundation for Ichthyosis and Related Skin Types because time is of the essence and specialized expertise is critical in caring for a newborn with harlequin ichthyosis.
Pictures on this post are Alicia’s property, and are published here with her approval.
Part 1: Life with harlequin ichthyosis: The basic science behind harlequin ichthyosis
Part 2: Life with harlequin ichthyosis: Newborn Surprise <–You Are Here
Part 3: Life with harlequin ichthoysis: In the NICU
Part 4: Life with harlequin ichthoysis: Going Home
Part 5: Life with harlequin ichthoysis: Ups and Downs in the First Year
Part 6: Life with harlequin ichthoysis: Toddler Years
Part 7: Life with harlequin ichthoysis: School Daze
Part 8: Life with harlequin ichthoysis: The Downs of Middle School
Part 9: Life with harlequin ichthoysis: The Ups of High School
Part 10: Life with harlequin ichthyosis: Moving Past School
Part 11: Life with harlequin ichthyosis: A Harlequin Pregnancy