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The Lonely Road to Our Turner Syndrome Diagnosis by Janine Reyes

In 2005, I had a 3-year-old son and an 8-month-old daughter when I found out the 15 week baby I was carrying was not okay. They said she might have Down syndrome, but that we wouldn’t know until we did an amniocentesis., but I declined. My first 2 children were premature babies, and I was already having pre-term symptoms. My risks were high and I couldn't add more risk.

I went home and contacted a friend that had a little girl with Down syndrome and talked to her. She directed me to a support group and tons of information. I thought, “I'll be darned if it's Down syndrome and she's fighting so I'm going to be prepared”. I even helped with a fundraiser with my friend. I went back to my doctor’s appointment the following week feeling empowered.

Every week, I would go in for scans, and every week they would tell me she wouldn't make it, that I still had time to terminate and just try again. Every week I said no! My sonographer kept insisting that she wouldn't make it much longer, and every week I would hear her heartbeat. I told her as long as she's fighting, so will I. Again, insisting she wouldn't make it to birth and if she did, she wouldn't make it much past that. Maybe because I refused testing, they never bothered to send me to a specialist, but every week my baby proved them wrong.

They could only see 3 heart chambers; they couldn't see her swallow, her kidneys were not visible, and I was measuring 4-6wks ahead but the baby measured fine, which was an indicator of a genetic defect - extra fluid somewhere. My fear was that my body would think it was time to have my baby and she would be born prematurely at maybe 30weeks or so, so we did progesterone shots for weeks and she was born right at 36 weeks.

Josslyn Maren was 18 1/4 inches and 6.03lbs. She was here! One quick look and we knew it wasn't Down syndrome but my momma heart knew it was something. In all of the excitement, I couldn't hold my baby. There was no NICU in Lawton, Oklahoma, so she stayed in my room. No testing was done because since I didn't do my testing, nobody bothered. Again, I was alone in all of this, no hand to hold, no advocate. I had no clue what was supposed to happen and what my rights where as a patient and parent of a patient.

My baby couldn't regulate her temperature, her breathing wasn't steady, she failed the hearing test, she kept choking on amniotic fluid that kept coming back up, and her blood sugar kept dropping. Four hours went by before I would hold her for the first time. In hindsight, all these are red flags. When I finally held her, I asked about all the extra skin on her knees, her back, her neck, and her elbows. The nurse said, "she still hasn't grown into her skin; it's because she's a preemie". But I knew better, I already had two preemies at home and her sister was the exact same size and weight and wasn't like this. It was another sign.

By the time she was 9 months old, we had struggled all the way through with nursing because of her high, arched palate, reflux, low muscle tone on her face and neck, and some kind of intolerance to what I ate. But I had nursed 2 other babies, so I tried everything until I figured her out. At her 12 month checkup, she was the same exact size and weight, and I pointed out that something wasn't right, that we had noticed all of these things since birth, that during her pregnancy thee were several red flags, as well as right after birth.

At 12 months old she still couldn't hold her head up, she had 8 or more poops a day and all were abnormal, and the battery of tests started. Celiac disease was suspected and dismissed, same as malabsorption and others. Our doctor had left the clinic to become the head of a department, and the doctor that followed would prove challenging. Every week or two we would be in the clinic. By then I was pregnant with #4, so we dragged all 4 kids to the pediatrician’s office on base. My husband would come and watch the other kids while I went in with Josslyn. They pricked her every single time and he always insisted she was fine. She was not growing because her dad is Mexican and I'm' short. I explained I understood her not being tall, but no growth in 6 months was not normal. He started asking me questions at every visit like, "are you in the medical field?", and "is anyone in your family in the medical field?", or " what did you study?". I explained to him that the previous pediatrician wrote in his notes that the next step would be genetic testing and asked why he had not done that yet. I shared that I spoke to my family pediatrician back home in Puerto Rico and our family doctor who had seen four generations of my family, and both had agreed that genetics testing was the way, and both had thought it could be Turner syndrome, just like I thought.

I remember studying Turner syndrome (TS) in biology during my pre-med days with my professor who was a geneticist and again 10 years later in human development. One day I was watching Mystery Diagnosis and I recognized the symptoms in the little girl, and, at the end, Natalie Brobin (Bonfig) talked about the Turner Syndrome Society of the United States (TSSUS). I called and spoke with Natalie and joined some yahoo groups related to TS because I was sure that was what she had.

And this doctor dismissed me, dismissed my previous doctors, and continued to act like I was exaggerating everything we were going through and told me to go home and enjoy my baby. Even after almost a year of poking and prodding at my daughter while dragging by now a newborn, a 2 ½ year old, and a 6-year-old to every appointment, he refused to do genetic testing. He had me feed her butter and anything high in fats and calories, and even a high calorie prescription formula that cost $100 a can and it only lasted 2-3 days. He said she wasn't growing because I wasn't feeding her enough and that maybe I was too busy with my other kids.

I had had enough! Right there in the hallway when he said those words to me and told me to just bring her back for her 3 year old well baby checkup, I snapped back and said, “ Yes, I am studying in the medical field, and yes I have many family members who are doctors and nurses, and no, I do not have Munchausen syndrome by proxy, and just because you refuse to see it doesn't mean it is not there,” and I walked off!

I had taken Josslyn in that Friday morning because I heard congestion in her chest, and she was struggling, and he insisted it was a head cold. That evening she was gasping, and I rushed her to the ER only to find out it was pneumonia. The ER doctor asked me if I had any other concerns and I explained. Monday I was back at the clinic explaining to a new doctor that what the other doctor told him was wrong and that she was developmentally delayed and had been with Early Intervention (EI) for months and that she still didn't crawl or walk.

That day we got our chromosome (karyotype) test done and 4 weeks later we had a new doctor assigned to us who was amazing and compassionate. He told me that my instincts as a mother might have saved her. They checked her blood pressure (which they don't usually do in infants unless they have cardiac issues) and her blood pressure was dangerously high. Her doctor said, “ you know more about TS than me, now what do you want us to do?”.

And that is just the beginning of our journey. That day when I saw 45X on the computer screen on her chart, I cried. I cried because I knew it meant Turner syndrome, but I didn't truly comprehend what the road ahead would look like for us. I also cried because now we had a name and we knew what we needed to do to care for her. That day I promised my daughter I would do what I could to help other moms like me to not walk alone. Nobody should have to carry all that alone without someone who understands. No one should be bullied and accused when searching for answers for their child's medical issues.

That civilian doctor was reported to the Army Hospital Chief, and he was fired, but he got to see us walk the pediatric hallway with the diagnosis I had suggested and he could never make eye contact. My daughter would be their first pediatric patient with TS and everyone was talking about our journey.

In our journey I have started several groups for parents and military families to help navigate the military life, and medical and moves with TS medical needs. We have also participated in proclamations, media interviews, and awareness campaigns in hopes to reach and educate others. Our journey has had many ups and down, tears, tantrums, hospital runs, and surgery. There have been an infinite amount of specialist visits, but having a community who understood what we were going through made a huge difference. My daughter has other little girls just like her in her life, she belonged, and I had other moms just like me, who understood the struggle, the language, and even the triumphs. I've made lifelong friends, some of whom I've traveled to meet.

Today Josslyn is a fun and vibrant 16-year-old who plays the saxophone for her high school band and jazz band. She started her first job, she loves sports, and has played football and basketball, among others. She is doing great in school and is an amazing advocate for TS; she has helped educate others since 2010. She is interested in studying psychology and neurosciences, and I am blessed to be her mom because she taught me to slow down, to not take things for granted, and to appreciate the little things in life.

I now get to continue my mission to advocate and educate for those with Turner syndrome in my role as the Parent-at-large board member on the TSSUS Board of Directors. I wouldn't change anything about my life, not even taking away Turner Syndrome, because then I wouldn't have had the experiences and I wouldn't be me. It has made me who I am. You'll never have to walk this journey alone, just reach out


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