Zoe – Microcephaly, autism, farsighted, amblyopia, esotropia, nystagmus, undiagnosed genetic condition

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Zoe was born March 25, 2007, a perfectly healthy baby girl. It was less than a year before we noticed that her development, while still within normal ranges, was falling behind that of her peers. Around 9 months old, while at a physiotherapy appointment, the therapist noticed a jerk of her eyes. We saw an optometrist, who also saw it and referred her to a pediatric opthalmologist at the nearest Children’s Hospital. The opthalmologist said she did not see it and discharged her.

In June 2009, at 26 months old, after watching her continue to fall behind her peers, Zoe’s father and I took her to a developmental pediatrician in our city, seeking a diagnosis of Autism. The appointment took approximately 2 hours.

“Zoe does not have autism. She is too social.” There was a momentary sigh of relief, until he took out her medical files from birth, up to this appointment. He then took out a measuring tape and measured Zoe’s head. Then her then 6-month-old brother’s head. Then mine. Then her father’s.
He proceeded to plot all her head measurements on a growth chart before announcing that she had microcephaly. Her head circumference was 43.5cm, while her brother’s was 44cm. And according to the growth chart, she was born with a normal head circumference, and by 8 weeks old, the growth has slowed. She had been microcephalic since 5 months old according to his measurements. How did he miss it for two years?
The moment we got home, I began researching feverishly about microcephaly, and Google is NOT your friend when it comes to anything medical. Microcephaly is diagnosed when the head circumference falls below the 2nd percentile for age and sex of the child. It means that they have a small head, either due to slow growth, or no growth at all, and it was a death sentence, according to Google. Zoe is more than -4 standard deviations below normal. She has had a 1cm growth in head circumference since her initial diagnosis in June 2009.
Fast forward six months when she finally had her MRI. The MRI showed a decrease in white matter in her brain, suggesting a neurometabolic disease. But so far, four years worth of testing has revealed absolutely nothing. She has a wide range of symptoms, but no overall diagnosis.
In June 2010, her metabolic geneticist at Sick Kids Hospital in Toronto, ON suggested she see the pediatric opthalmologist again, as he was noticing nystagmus. In October 2010, the pediatrician opthalmologist told us that, yes, the nystagmus was present, but her vision was perfect, and she didn’t believe it required an intervention, but to come back for a follow up in a few months. In May 2011, we went back, and it was discovered that Zoe now needed glasses, as she was farsighted with nystagmus and amblyopia. Three months into wearing glasses, we were told that the glasses alone we not helping to improve her vision and she now required patching.
Now take a child with severe behaviours, who goes into sensory overload from having bangs, and try to put a sticky patch over her eyes for 6 hours a day. It didn’t go over so well and her father, who became a stay-at-home parent while I finished school stopped patching.
Since August 2011, Zoe has undergone several genetic tests in an attempt to discover her neurometabolic condition. It is believed that her vision issues are related to her condition, and not to her eyes itself. So far, all we have are a list of symptoms, including microcephaly, epilepsy, pica, global developmental delay, anhidrosis (an inability to sweat), immersion hypothermia (body temperature drops too quickly), peripheral hypotonia, and more. Since May 2013, we have since added an esotropia diagnosis, as well as an autism diagnosis from a new developmental pediatrician. We are also patching again for two hours every day, one in the morning, one in the evening, as a way to reduce the sensory distress related to the patching.
Each day that Zoe is here could potentially be her last. Due to her anhidrosis, she can’t go outside and play in the summer if the temperature outside is higher than a certain degree, and every fever could be her last, and not knowing her condition is scary. We live one day at a time, and I always remember that no matter what kind of struggle there is in the day, and with her meltdowns, abrupt fevers and illnesses, there are MANY struggles, to tell Zoe each night how much I love her, so that if that is our last moment together, she will not only know, but also FEEL how much she is loved.
Due to Google’s “death sentence diagnosis”, I have created a website dedicated to showing families that microcephaly is NOT a death sentence, that you can LIVE with microcephaly. The site also currently has a link to a gofundme fundraiser for one final genetic test for Zoe. The test has great potential to FINALLY diagnosis Zoe with the conditions she battles on a daily basis. Unfortunately, as a single mom, I do not have the money for the test on my own and began the fundraiser to help my daughter. To continue to follow Zoe’s story, visitwww.zoemeszaros.com.
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