NR2F1

NR2F1. This combination of five letters and numbers meant absolutely nothing to me until a few weeks ago. Now those five letters and numbers have given us the answer to, “Why Lola?” They are the sole reason why the course of Lola’s life changed so drastically. They are the letters and numbers making up a long awaited diagnosis. When I first received the call from neurology informing me a diagnosis had been found, I was elated. I quickly called Rob, my mom, sent out texts, posted on Facebook and Instagram. I was ecstatic. We finally knew what exactly we were up against. The main symptoms were optic atrophy (Lola has CVI and small optic nerves) and intellectual disability (she is globally delayed). We would have to keep an...
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Same Story, Different Doctor

Today Lola went back to yet another pediatric ophthalmologist…this was now her third. Dr. Zimmer wanted an opinion from Riley Children’s Hospital in hopes to find answers regarding Lola’s low vision. Dr. Zimmer thought the recent MRI results gave no indication as to why Lola would have an impairment. Just as we suspected, Lola’s eyes are healthy. The doctor couldn’t find anything wrong with the structure of Lola’s eyes. His conclusion was that Lola’s lack of eyesight stems from her brain. He thought as Lola’s development improves, her eyesight will as well. But early in the appointment, I explained how much her vision had improved in just the last couple of weeks and I was told that typically does not happen in kids with CVI (cortical visual impairment)....
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An Image Changes Everything

“When you’re in your own realm, you have a strong sense of purpose, but there’s something about foreign territory that makes you want to loaf.” This was my Leo horoscope on May 25th, 2012…one day after Dr. Zimmer called with Lola’s MRI results. Are you ready for good, but shocking news? Lola does not have lissencephaly. Yes, you are reading this correctly. Lola does NOT have lissencephaly. Not only does Lola not have lissencephaly, but she doesn’t have pachygyria either. In fact, other than a slight abnormality in Lola’s white matter (a bit decreased), Lola’s brain actually looks quite normal. I hesitated to write because we had to process this new information. We had to give it time to sink in as for the last eight months we...
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One Year

Day 20 – May 17th, 2011 “Lola has now figured out how to take her pacifier out of her mouth with her hands, but then she desperately wants someone to put it back in. You’ll learn soon enough, my love. Today has been good. Lola has not had a seizure since yesterday which is a hopeful sign. I broke down and called the doctor’s office and asked his secretary why he hadn’t responded to my emails (maybe because he has at least 100 from me alone…just kidding….uh not really.). Turns out the Internet has been down. He was supposed to call at 6:30 pm for a check-in…it’s now 7:30 pm and no call yet. I really need to work on this whole patience thing. It’s starting to get...
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The Last Phase of PT With Moisés – Lola Must Go to the World

Sadly, today was Lola’s last appointment with Moisés. It was originally scheduled for next week, but Moisés is going to be in Mexico and we didn’t want to reschedule an appointment on one of our last few days in Costa Rica. So today was as good as any. We wanted to bring Moisés a thank you gift, so I headed to this cute little store in Ciudad Colon called Organica. It is a juice/snack bar, but she also sells everything from organic chocolate, hammocks, soaps, teas and a lot of yoga related items. Remembering that Moisés was into yoga, I found him Mala Beads. He was thrilled with the memento and immediately put them on as we told him he was to think of Lola every time he...
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