My Daughter is My Hero
By Stephanie Vargas
My daughter Jenacee was diagnosed with Loeys Dietz Syndrome when she was 4. From the moment she was born my mom instincts told me something was wrong. I remember feeling scared, and helpless.
Jenacee was born with club feet and her left eye partially closed (ptosis). I remember questioning the doctor and all the nurses that came through and none of them could give me an answer about what was wrong.
It was when I took her for her checkup that her pediatrician referred us to an ophthalmologist. He was the one who referred us to see a geneticist after seeing that some of the measurements in her face looked abnormal.
It's not what any mom wants to hear about her child. Our kids are perfect to us, so when someone tells us otherwise we get a little defensive. But he was the specialist and I knew we needed answers.
After seeing a few different specialists for different things, a physical and speech therapist, Jenacee got her first misdiagnosis. The geneticist diagnosed her with Kabuki syndrome because of her facial features. Then they thought it could be Marfan syndrome, but we never did blood work for it and it wasn't a “for sure” diagnosis. So, we pretty much just lived our lives, kept doctor appointments, and stuck with physical and speech therapy.
In 2006, the same geneticist that misdiagnosed Jenacee called and told me they believed they knew what her real diagnosis was. They asked me to take Jenacee to do some blood work and then set us up with an appointment to see a cardiologist. This really worried me because it wasn't just a facial feature thing anymore.
After meeting with the cardiologist, doing some scans on her heart, and all the blood work came back, it was confirmed that Jenacee had Loeys Dietz syndrome affecting the TGFBR1 gene. I remember talking to the cardiologist and her explaining what the syndrome was and that it was recently new. She told me she had just lost a 9 year old patient to the same syndrome because it was so new and they diagnosed him too late.
I was so scared. I remember crying that night and being so overwhelmed, one of the many times I've felt that way throughout this whole journey.
Jenacee has had 17 surgeries in her 18 years of life, and will get her aorta repaired in a couple more years, according to her scans.
Jenacee is the bravest person I've ever known. She has been through heartache, rejection, physical pain, and trying to fit in a world full of judgment. But she has never given up, even on her worst days. Even with all the sleepless nights staying in the hospital with her and all the worries then and still now, I feel like I won the lottery having her in my life.
Jenacee probably doesn't feel much like a hero but she will always be my hero, she makes me brave and always reminds me what matters most in life.
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