Raising Awareness for Rare Disease Day 2012: Caring for my baby with Harlequin Ichthyosis

I have had a pretty easygoing life.. I enjoyed a great childhood, had a blast with my friends in high school, loved college and studying abroad in London. I have traveled on many adventures with my boyfriend (now husband), worked for a year, went to grad school and then married the love of my life.

The announcement of our first baby was such exciting news. We were thrilled and could not wait for the day of HIS arrival. My pregnancy was very rough on me. I was horribly sick through my 18^th week, which only slightly got better. I was unusually large for my due date, measuring 6 weeks ahead.  And I had a ‘pinching nerve’ pain under my ribs, which was consistent.  It was not the most enjoyable pregnancy and was even more stressful once the red flags went up during an unscheduled ultrasound at 27 weeks.

There was not much that the specialist would tell us. They were having troubles seeing his profile and were concerned that his fists were always clenched. Though we were terrified, we tried to stay positive and ‘stress free’ for our baby.  For about 3 weeks we were back and forth to Yale, with multiple high-risk specialists, to try to figure out what was going on. We still tried to stay positive.

29 weeks pregnant

My water broke at 30 weeks so we headed straight for Yale. Our concerns grew for our baby, now dealing with a possible pre-mature birth on top of questionable ultrasounds. We still remained positive. The first night we were in the hospital, two high-risk obstetricians came into our room to discuss a possible diagnosis, Harlequin Ichthyosis. They handed us a paper of information with an illustration of a harlequin fetus. My husband did not take the news so well. I on the other hand, ignored the information I had just received because I knew no matter what, the love I had for my baby would never change.

Of course once we heard, my husband started surfing the web. I refused to hear negative things about the condition to prevent my emotions from taking over. Being 30 weeks pregnant, in pre-term labor, stuck on a hospital bed, I would not let myself get anymore stressed. For the next few days I was pumped full of drugs to “delay labor” and “stop contractions”. It did not work for long and on Wednesday June 9^th 2010, I was rushed off for an emergency cesarean section.

It was a surreal feeling as we were rushed from the 10^th floor to the 4^th. I remember once the elevator doors opened, I felt numb. I was wheeled into a labor room only to listen to nurses ‘argue’ in confusion about the meeting we were suppose to have with all of the specialists, to talk about the diagnosis. One nurse said, “There is NO TIME.. We are going for an emergency cesarean RIGHT NOW.”  Not even a minute later I was wheeled straight into the operating room. I remember looking back at my husband, as I was taken away to see him extremely pale as the high-risk obstetrician comforted him.

At this point, I was having an outer body experience. I felt like I was watching a movie. I had never been in a hospital before, never broke a bone and never got stitches. This was intense. The doctors and nurses barley had enough time to get ready for me. I remember seeing some of them running around the OR bumping into one another, trying to get things ready. Once my husband came in, I felt so much better. I knew he was terrified but he wouldn’t show it.

Evan Joseph was born at 4:56 pm. He was immediately taken from the operating room to a private, sterile room with nurses and neonatologists waiting for the arrival of a harlequin fetus. Not only did we have Yale Dermatologists who were experts on patients with Ichthyosis, but we also had a nurse who had experience with a collodian baby, 18 years prior to Evan’s birth. It was a blessing for us to have these knowledgeable doctors and nurses to care for Evan.

Since we were suppose to have a meeting about the diagnosis, both of our parents got to the hospital right before I was rushed to the 4^th floor for surgery. The meeting to talk about the possible diagnosis turned into a meeting to talk about what we could expect for our Harlequin baby.  Though in a fog from surgery, I never cried, listened to our dermatologist talk and already started to ‘accept’ what was happening. He asked me if I had and questions and the first and only thing that popped into my brain at that moment was, “What about a cat and a dog?” At least my question got some smiles and chuckles during an extremely intense time.

Later that night, after I was in recovery for a few hours, we were ready to go meet our baby. I remember turning to my husband and saying, “Now remember when we go into his room we can’t be sad. We have to remain positive so he could feel our loving energies.” I did not want any negative energy entering his room. I never once doubted his survival. Many family members were concerned but I never thought it would or could EVER be a possibility, even with the odds against him. I new my boy was a warrior and we named him Evan after his birth for it’s Celtic meaning, ‘Young Warrior’.

We were very fortunate to have an incredible primary nurse and a very dedicated neonatal team to care for Evan. We are forever grateful to every person that was involved in Evan’s care for a successful survival. After 58 days in the NICU, Evan was discharged. By then, we were pretty much ‘pros’ at taking care of him, though it was very intimidating bringing him home. We still had A LOT to learn about Ichthyosis and caring for a child with it.

Evan's last meal in the NICU- Aug 7th 2010

There have been many stressful days and the most stressful, for me, is dealing with scale removal. Evan’s scale is relentless, as is with many patients with Ichthyosis. The amount of time we put into exfoliating his skin and removing scale is never ending. It was very discouraging, at first, to see how much scale needed to be removed AGAIN by the time he was ready for his night bath. It felt like all the work we did in the morning did not happen and we were back to square one.

Now, I don’t think of the scale left over and accumulated by his night bath as ‘putting us back to square one’. I now think of it as ‘keeping up’ and ‘preventing’ his scale from getting too thick. The intensity of caring for Evan can be very overwhelming at times. Knowing that you can never take a ‘break’ from his skin care, scale removal, Aquaphor applications, or nail manicuring because it will only get worse if ‘let go’, is an overbearing amount of pressure.

Luckily, I am fortunate enough to stay home and take care of my boy. Even though I am much more comfortable taking care of Evan’s skin and complications from it (i.e. overheating, excessive calorie burning, dehydration..), I still have my overwhelming moments. My husband is a huge help and I could not do it with out him.  He is a great ‘scale remover’ and will stop at nothing to keep Evan as ‘scale free’ as possible. He does things to get scale off that I could never do which is why we make such a great team during bath time.

I would consider this a good day. The thinner flakey scale is 'easy' to get off.

Happy boy in his baby tub (Yes he still fits in it)

Happy boy in his MicroSilk tub

It takes a lot of time and energy caring for Evan. A typical day will start off with a bottle in bed then his morning bath. We put baking soda in his bath to soften the water. For about 40-60 minutes, or however much he tolerates, I scrub and exfoliate his scale. I spend a lot of time on his face and eyes to prevent it from tightening up, which changes his physical features and makes it harder for him to close his eyes. After his bath, he gets coated, generously, from head to toe with Aquaphor. If Evan is not always moist with Aquaphor his skin will rip and fissures can occur. Thick scale build up can also cause fissures to occur. So sometimes I will put Tazorac on his hands or feet to help break down the scale. Evan eats breakfast after his bath and then gets an ear cleaning and manicure. It may sound simple but it is anything but.

Evan’s ear canals fill up with skin very fast and if they were not cleaned, he would have ‘ear plugs of skin’ in about a week or two. Everyday I scoop out chunks of skin to prevent that from happening and peel sheets of skin out of the nooks and crannies of his ear. Nail maintenance is no fun, especially since he does not tolerate it. If unattended, his nails get very thick and cap his fingers. Since his skin is growing so fast the nail attaches to the new skin making it even harder to cut.

His nails on a 'good day'

The day continues with multiple Aquaphor applications and feedings. We also do a lot of physical and occupational therapy exercises to help his gross and fine motor skills. At 20 months old Evan is extremely far behind. He cannot sit on his own, does minimal propping on his tummy and does not bear weight on his feet at all. It is another overwhelming feeling, accepting his developmental delays on top of all the intense skin care we do.

By the end of the day I am exhausted from skin care, PT/OT exercises, plan ol’ baby care,  and never ending laundry, cleaning and sterilizing. My husband helps with night baths, which is such a relief for me. And yet again during his night bath, we put in as much effort as if it was the first bath of the day.

With all of its intensity, I really never had any ‘why me’ moments but I have had some ‘why Evan’ moments. It’s hard to see my baby uncomfortable, itchy, in pain, struggling with weight gains and development, overheating, or dehydrated and the list goes on. Many people say ‘God only gives you something you can handle’. I know that I am strong and able to care for my child and I know Evan is strong and has been so patient with everything he has to go through.  But sometimes it is hard for me to understand why Evan has to live with a life long disorder.

I am very thankful that Evan was our first. This is all I know in caring for a baby and being a Mommy. I still consider having an ‘easy going life’. Even though Evan’s care is a lot of work and can be overwhelming, I still feel very fortunate for everyone I have and everything I have been given in my life. I have an amazing husband, a beautiful happy baby and an incredible, loving, supportive family and group of friends. Though Evan’s skin disorder is rare, severe, and has no cure, in a way I am still grateful because I know that there are other people in this world that may be living with or caring for someone with a disease that is even more severe or rare. This experience has only brought us, as a family, closer together. My only hopes, dreams and wishes revolve around finding a cure, someday, for my precious baby boy.

My favorite family pic- Spring 2011