Raising Awareness for Rare Disease Day 2013: My First Moments

Last year for Rare Disease Day, I wrote about caring for my child with HI. This year instead of repeating the same story, I decided to write about my first moments; hearing the word, the diagnosis, Harlequin Ichthyosis for the first time. Harlequin Ichthyosis is the most severe type of Ichthyosis and there are maybe 100 people in the world living with it. Not only are there very few people living with this condition but only about 56% of the affected babies survive the neonatal period (according to US National Library of Medicine). The oldest living survivor is 29 years old. Until recent years this condition was usually fatal due to infection or respiratory problems. Thanks to modern medicine and continued research for Harlequin Ichthyosis, most infants will survive if given the appropriate and immediate neonatal care. Learn more about Ichthyosis HERE. Learn more about Rare Disease Day HERE.


Yale Labor and Delivery Unit:
June 7, 2010
Day 1:
30 weeks 3 days gestation

Ichthyosis was a word I never heard until the night of June 7th 2010. Not only Ichthyosis but Harlequin Ichthyosis. I tried to warp my head around it as I looked down at my pregnant belly. I had multiple machines hooked up to me and all sorts of IV bags and drips going. Our doctors handed us a piece of paper and this is pretty much what the it read, with only the illustration visible. Worst case scenario they said. For three weeks we were not getting an answer to what was "wrong" with all of my ultrasounds (what was "wrong" was that they could not see Evan's profile and his hands were always clenched). And now a paper is handed to me, FINALLY telling me what is going on. I was confused, disoriented, and exhausted from 12 hrs of contractions, being poked and prodded at and in a hospital for the first time. But I tried to remain stress free and optimistic for my unborn child. My husband, not taking the news well, was a mess. We told our family, who had the opportunity to research it. But we still 'wouldn't know for sure' what was going on until our baby was born. Heartbroken but not showing it, I pretty much ignored what the doctors told me. Since they couldn't tell me 100% until the baby was born, I would not give up the hope that everything would be ok.

June 8, 2010
Day 2:
30 weeks 4 days gestation

After an exhausting night of no eating, drinking, a very bad reaction to the medication I was receiving and hearing a possible diagnosis for our child, I was ready for a good day. At 30 weeks prego, they were trying to keep me pregnant for at least another month or so. The nurse came in with another gigantic shot of steroids, which now I knew what is was, after getting one the previous morning. I remember saying to her, "Do you really have to?" She replied with a smile, "Yes, it's for the baby." I said, "I know, it's for the baby." I did not feel pretty let me tell you, ouch! There was good news that morning. My contractions regulated and slowed down so I was being sent to the High Risk Unit, where I was finally going to eat something for the first time in 24 hours!!! I do remember being pretty cranky since they wouldn't let me eat or drink.

Day 2: Trying to nap

Talking about the diagnosis that day is still a blur to me. Either I chose not to discuss it to prevent me from getting emotional or stressed or the shock of it put me in a daze. It is very vague to me. I think that since I was so happy to eat, nothing mattered to me at that moment. I don't remember looking it up on the internet, looking at pictures, or researching it at all really. I only remember hearing that most cases resulted in death which I obviously wouldn't believe nor accept. There were all types of doctors and consolers in and out all day. They told me they were organizing a meeting for the next day, with a team of doctors, to discuss the diagnosis. Things calmed down so Joe headed home to grab some clothes and get the dog and cat situated. My mother stayed with me until my husband returned and headed home knowing she would be back the next day for the 'big meeting'.

June 9, 2010
Day 3:
30 weeks 5 days gestation

Contractions started up quick and steady around 2 am. I refused to tell the nurse so I wouldn't be cut off of food and water. Good ol' technology blew my cover and I was back to 'sporadic sips' of ice water. The baby was breech so a c-section was the only possible birth plan until he turned. The day was long and uncomfortable now feeling much stronger steady contractions. The 'big meeting' was still planned for about 5pm. And the high risk doctors were trying to get my contractions to slow down so I wouldn't have to be sent back to the Labor Unit.

Things got pretty hectic, pretty quick as a second amniocentesis put me into active labor, dilating 7cm in 20 minutes. The purpose of the second amnio was to check for infection and remove fluid since it was thought to reduce contractions. Coincidence, ironic or meant to be, I don't really know but I was rushed off for surgery for the birth of our child. It was confirmed in the OR that Evan did appear to have Harlequin, though we did not see him or hear him cry (he did cry when he was rushed into his room before intubation, thank you steroids!!). And through all of this commotion, Evan was born at 4:56 pm, four minutes before our meeting was suppose to start, with all of his doctors already present and waiting in the hospital.

The meeting, for obvious reasons, was postponed until about 8:00 or so. After my recovery from surgery, the doctors filled my room. Our Dermatologist spoke first and asked if I had any questions. Still incredibly confused and overwhelmed, the first thing I asked was, "What about a cat and dog?" Which he assured me wouldn't be an issue. The meds and shock of my child's birth consumed me. My parents and husband's parents were in attendance during this meeting. Though incredibly hazy to me, I remember there being so many people, doctors and nurses in the room that there was not one more spot to stand. I was spoken to from a variety of specialists and to this day can only remember asking our dermatologist that one question.

Time seemed to fly by. We then went to meet our baby in the NICU and they rolled my bed right up next to him.  His eyes were covered and moistened since they were swollen and extraverted. His mouth and lips were stretched open, swollen, puffy and blood red (from what you can see other than the breathing tube). He had deep, bloody fissures surrounding his entire diaper area and at every joint. His hands and feet were restricted and clenched. I was at least relieved to watch his belly go up and down. At first, I did not want to know anything about Harlequin Ichthyosis when they gave us the diagnosis. But obviously, now, I needed to educate myself about it.

I'll admit I was very sad. I expected to hold my baby once he was born. I expected to touch and kiss him. Instead, I looked at him through a plastic window. I couldn't touch him, I couldn't kiss him and I couldn't even see him with all the wires, tubes, cloth coverings and dressings hiding his features. I wondered what he would look like without his thick armor of skin. I wondered what his eyes would look like or if he'd ever open them. I wondered if he would get to live a "normal" life. In this moment things were still so uncertain. Not to mention his 9 week early delivery date, we had so many premature issues to worry about on top of his skin issues. I wanted to cry, I wanted to sob but I would not let Evan know that I was scared or devastated about the situation. I remained positive so he could feel my energy and so he'd know that I would not give up hope that he would survive.

Yale Newborn Special Care Unit
June 9th to August 7th 2010

The education, experience and expert knowledge about Ichthyosis was overflowing at Yale, which Evan benefitted from greatly. It is not typical to have the experts at your fingertips for such a rare disease. Never mind diagnosing such a rare disease prior to birth. We we fortunate to have had the expert dermatologists, neonatologist and nurses taking care of our boy. Not only did we have the expert clinical information about Ichthyosis but we had more personal experiences and knowledge about it, that filled the NICU. A woman who we miss dearly and owe so much thanks to, took care of a collodian baby in her earlier years of nursing. She answered so many of our preemie questions, skin questions, long term questions. She was so valuable to us and was so connected to Evan. Another woman who worked in the NICU had a niece with Ichthyosis. A different type, but she told us about their bath routines and skin care treatments. She was the first person to mention the Aqauphor program to us, before Evan ever left the hospital.

Since my intense surgery was unexpected, I spent a week in the hospital recovering. That week was the week I really grew up. A week we sat with uncountable doctors and discussed Evan's status, goals, risks and expectations. A week where I visited my brand new baby in the NICU, in a humidfied isollete, on a breathing tube, hooked up through umbilical lines for fluids, meds and blood. A week where I changed my first diaper, completed my first aquaphor application and even helped hold a suriynge to feed him less than 5 ml of breast milk. A week when I finally knew why I had a purpose on this planet.

Finally going home

8-7-10

Present Day:

Evan's skin care regimen is pretty much the same as it has been since he was born. We still put Aqauphor on him, head to toe, at least 5-6 times a day. He gets two baths less often now, unless he is super scaly or extremely dry. Now, since he is bigger, he goes through A LOT more aquaphor. The past year we moved into our first home and now have a special tub that I feel helps Evan's skin maintenance immensely. The MicroSilk tub emits millions of tiny bubbles that essential clean out your pores and deliver oxygen to your skin. For Evan, these bubbles get underneath his scales and help lift them off his body. We do a lot less rough exfoliation when in the MicroSilk and never had to use baking soda in this type of bath.

Evan is still behind developmentally. He is getting close to sitting on his own and will for 20-30 seconds at a time. He still neglects to put his hands down to prevent himself from tipping over. Evan doesn't mind tummy time but will only hold himself up for a few seconds at a time. He has mastered rolling from his belly to his back (to get out of tummy time). Evan stands for longer periods of time with less support. He uses a pony-walker and is able to move around the house, though he uses it more as a ride and is sitting as he pulls himself. His mind is a sponge and he is learning things very quickly. He knows his body parts, all kinds of animals, toys, routines and actions but just has trouble verbally asking for things. He tries very, very hard to say what he wants or needs and tries to mimic any sound or word he's asked to speak. At 2 1/2 years old he is still behind but doing amazing.

Trying to work the TV

Ichthyosis, a word, a disorder, I never knew existed which now has completely changed my life and the life I had envisioned for my child. Something that I knew absolutely nothing about but now encompasses my entire life. Harlequin Ichthyosis did not affect my life until we heard the news in that operating room. I would not give up the hope that the experts could be wrong. Until I heard that news, it was not something I was ready to learn about. Now, it is something I know more about than anything else I have ever learned. Something I need to know so much about in order to keep my son alive and comfortable. Ichthyosis, a disorder in which I will never stop raising awareness for.

Learn more at:
Foundation for Ichthyosis and Related Skin Types

Rare Disease Day 2013