It all started with “I’ve never heard of this before, I just got off the phone with the children’s hospital, this is all the information I have and I know nothing more” as my doctor’s eyes filled with tears while holding my maternal serum test results, haunts me during the worst moment in my life.
Smith-Lemli-Opitz Syndrome has five lines of information on the ENTIRE internet, “mental retardation” is the first line in every description. The word “retarded” makes me nauseous and takes me back to many moments over the longest five days of my life while my husband and I took turns sobbing in each other’s arms.
The hormone imbalance I had, also matches with another rare disease called X-linked Ichthyosis. A skin disease; though it is a skin disease many other obstacles mental and physical come along with it. It will be unknown until further in the future what of those issues will affect us.
Being an X-linked Ichthyosis carrier, it does not allow your placenta to fully develop, it cannot sufficiently produce the estrogen that keeps your placenta alive, and has difficulty or is fully not able to initiate or progress labor. Babies are induced or taken by c-section early to save their lives.
I cried every single day, from 16 weeks to 37 weeks pregnant… I refused to talk to my baby, and I refused to acknowledge I was pregnant. I thought if I lost him, it would be easier to grieve him if I never knew him at all. I realized at 37 weeks pregnant how much I might regret that choice, if I did lose this baby and I never took the time to know him, would it be easier to lose him? Or, would it make it even more difficult to cope with? Many times, I looked at my belly and cried in pure fear of never getting to meet this little man.
The night before our appointment with the Maternal-Fetal Medicine specialist I was 17 weeks and 3 days. As we sobbed that night, like we had the past few, my husband spoke to my belly and talked of how tomorrow we would see him, that we hoped he was ok and safe, just like that, baby’s first kick… we needed that so… so… bad at that moment.
I lived those next 21 weeks in fear my baby would not make it to the next week. People would talk of how great pregnancy is, how amazing it is to have them inside of you, how safe they are in there, but… my baby isn’t safe… it’s not amazing… it’s sickening actually.
Problems with my placenta progressed and an induction was scheduled. When the day arrived, I received many inducing medications, labor lasted over 80 hours with contractions reading beyond pushing intensity —with no dilation— several times. Delivering in the capital city of my province there was one Obstetrician out of the nine that had delivered an XLI baby 18 years ago, and she made sure we had a safe delivery.
1 in 5 undiagnosed x-linked ichthyosis boys is stillborn. That’s a 20% chance of stillborn. Late-term miscarriage in the last four weeks of pregnancy is extremely typical with that 20%. There are many types of Ichthyosis, in general, 1 in 3 ichthyosis babies are stillborn. That’s a 33+% chance of stillborn… We are thankful we chose to do the maternal serum blood test, which enabled us to receive proper treatment while pregnant and during labor for an XLI delivery. We had all the information possible available to us, which lead to proper medical care for my baby and me during my pregnancy. Without it, my baby might not be here today.
In the next few months, and even to this day, I find myself dramatically enunciating “ick-thee-o-sis” while looking into a doctor’s eyes. A doctor who I have already deemed to know nothing, if you don’t know how to pronounce it, I assume you know nothing about the condition. I laugh at myself every time I think it too, these people are highly educated, who am I to roll my eyes at them, look away, and ignore the four sentences of information that I have memorized, but they just flipped to in a textbook from 1972. I in no way expect doctors to know every rare disease or condition and despite many encounters like that, we have been extremely grateful to all the specialists we have been lucky enough to come across who have gone the extra mile. I also respect the medical professionals who don’t pretend to know anything about it, and will be forward with their response in saying “I’m not even going to attempt to say that word, what is it?”
X-linked Ichthyosis is a skin disease that does not allow for the superficial layer of skin to have a regular cell turnover, meaning the dead skin needs manually exfoliated off. This leads to not being able to self-regulate body temperature, meaning your life is at risk every time you get a fever. Along with that, other common problems include eye and cornea issues, hearing impairment due to the inability to clear dead skin in the ear canal, organ failure, delays in developmental milestones in the first years, high risk of developing ADD, ADHD, and Autism, psychosis, and mental health issues and depression. As in XLI carrier symptoms are mild and sometimes nonexistent. My personal symptoms are issues with the cornea, my skin is dry, but not uncomfortably dry. Post-partum you are at higher risk to experience depression, which I battled and overcame. There are also so many little things about how my brain works and processes things, all related to being a carrier.
Lochlan’s daily regime includes a rough full body exfoliation, full body heavy cream with special creams in high-risk areas, and baths that include oatmeal, baking soda, cornstarch, and Epson salt, depending on the day this can happen two to ten times a day on repeat.
As of now, we have no idea what future years will look like, in the meantime, we will smother this handsome little man in hugs, kisses, and cream.