I vividly remember having the convo with my husband when we considered having a third child; “imagine if we had a child with health issues?”, wondering if we should stop while ahead. We were excited to find out we were pregnant during the last week of February 2020. Two weeks later, schools shut down during the most exhausting part of pregnancy, and we were at home isolating with our 3 year old and 14 month old, while both attempting to work from home. I always elected for genetic testing at 12 weeks, as we would want to be prepared if need be. My OB said “we will only call you if there’s an issue, and don’t worry, there won’t be”. I wasn’t worried and had nearly forgotten about it amidst the early Covid chaos. We were on a family walk about 10 days later. I saw that I had a missed call and a voicemail from my OB asking to return the call. We had always been surprised with gender – I absolutely loved finding out at delivery. I had made it known that would be the case this time, too. When I called her back, she informed me that I was expecting a girl, and that she had tested positive for Monosomy X. Still on the walk, while also processing the gender surprise was no longer, I was trying to compose myself while formulating some intelligent questions, never having heard of it. I remember her telling me that she might have some physical differences like webbed necking and widely spaced nipples, and short stature. She said we would be referred to Maternal Fetal Medicine and that the test is not very accurate so there was a 50/50 chance she actually had it. We decided to do an amino around 16 weeks that did confirm she had Monosomy X, otherwise called Turner Syndrome(TS), which is a genetic condition affecting the sex chromosomes in females. Where a typical female has 2 X chromosomes, a female with Monosomy X either has one X deleted entirely or is missing information from it. The scariest part, in addition to the vast unknowns, was that less than 2% of babies conceived with TS survive to birth. (It is thought to contribute to up to 15 % of ALL miscarriages). In a typical pregnancy where you feel out of the woods in the first trimester, you never really get that relief here. We were induced at my 35 week appointment because she had fallen from her usual 8% to 2% in size, so they thought her chances of survival would be better if delivered. (In actuality, when she was delivered, she was appropriate size for gestational age and those subjective measurements were not accurate). Nonetheless, we delivered at the hospital with NICU access, knowing likelihood of needing it was higher with her diagnosis and prematurity. We had a whole team present at birth, and miraculously, after 6 agonizing months, they took her for just a few minutes before giving her back saying she looked wonderful. At 4 lb 8 oz & 35 weeks, She did no NiCU time. God had been working in our lives for a few years leading up to Marin’s conception, and looking back afterwards, I saw His hand in it all. The community we had developed in our church carried me in those terrifying months, as well as the unwavering support from friends and family, but had we not had that spiritual basis, I can not imagine getting through. I’ve since learned that TS is like getting the list of potential side effects from prescription meds; you get a novel of potential complications and symptoms, but the woman will not experience them all. Common features are short stature and reduced fertility, with a whole host of other possibilities impacting all organ systems. As a result, Marin has a lot of specialist appointments (cardiology, nephrology, endocrinology, audiology, optometry, etc). Though IQ is not affected, many girls experience developmental delays as well as non verbal learning disabilities. We underwent genetic testing during my pregnancy and when Marin was young, knowing ultimately that karyotypes aren’t accurate predictors of how it will present. We were told that with her karyotype, she may experience neurological differences. I asked if we should get established with neurology also and was told it wasn’t necessary unless she has an event or concern. Her first seizure was at 11 months and accompanied a high fever so after meeting with neurology and having tests come back normal, it was ruled as a febrile seizure. Her second seizure was at 15 months and this time lasted over an hour, known as status epilepticus, at which time she was diagnosed with epilepsy. Again, there were so many blessings during those scary moments, as they always occurred directly in the path of medical care (the first in a fire department parking lot with an ER nurse being the first passerby, and the 2nd in an outpatient medical center while waiting for her tubes to be placed, and the 3rd in my mom’s nurse arms). Marin is a gift to our family and all who know her; she is a typical 2.5 year old in many respects. She and her siblings play royally, she loves to dance and sing and eat, and her teachers always remark what a joy she is in the classroom. She has participated in early intervention since 6 months and has made substantial catch up with developmental delays; the average age of diagnosis for TS is age 9, when a girl lags in growth. We are fortunate to have found out early to help Marin have the best health outcomes. Her siblings adore her and though they do know about the epilepsy, they don’t know about TS yet, as it’s a difficult concept for their young minds. I do appreciate what a wonderful opportunity for convos around kindness and inclusion she has provided. They have been able to witness her in her therapies, and we have had the chance to discuss how some kids need more support learning new skills, while it comes easily to others. It’s given them an appreciation for their own able bodies and a heart for others with differences, as they relate to their sister. I can see how the world is already a kinder place with Marin in it. Marin has ptosis, or a droopy eyelid, which is a common TS symptom. Many children will ask questions anout what’s wrong with it and make innocent comments like “it’s weird.” The experience will make any parent more sensitive to educating their own children on how to interact with and relate to someone who may look differently. A tip that helped me is to let your young child know that if they have a question about someone’s appearance or mannerisms, let’s talk about it at home or in the car versus in the presence of that person, as their feelings may be hurt. I always answer the question about her eye from young kids with “ that’s how God made her” and that’s usually the end of that convo. I love KIND’s mission for celebrating differences with kindness and am so grateful for their work they are doing in the Upstate. Marin’s middle name is Hope, which we have clung to her whole life. She has made our lives much richer and know her impact on this world is already and will become even more immense.
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