Emily was born in February. The summer of the first year of Emily's life (2007) we noticed she squinted a lot. Thank heaven's she's stopped that for the most part unless it's REALLY bright. My daughter is normally incredibly cute, however, when she squints it twists her face up and she looks quite ogre-ish. She would often get comments like "oh, she's going to cry," and one man even said "man, that's really an ugly face!" (I was about to go "Crouching Tiger" on his you-know-what.) The other main symptom that we noticed was that her one eye (sometimes both) wiggled back and forth.
AUGUST - On one of our routine checkups when we brought up both of these symptoms to the pediatrician, the doctor told us that these symptoms were fairly normal for a baby to have in their early stages of life. He sent us home with no diagnosis, feeling slightly defeated, but also encouraged with the idea that she could be perfectly fine.
OCTOBER - As she grew older and she passed the "baby-eye-wiggle-being-perfectly-normal" stage we started to get a bit worried. Through my research I quickly discovered that this was "nystagmus." I also was terrified by the fact that this could be a possible side-effect of a brian tumor. This is when the doctor told us to go see a specialist (pediatric opthomologist), which we did.
JANUARY - On our first visit with the specialist he said that a probable diagnosis is Spasmic Nutans (sp?), a fairly rare occurance - he had only seen one case in his practice. He said that this is a form of nystagmus that shows up in or around a child's 7th month and last for a few years before going away completely. He did want to rule out the possibility of tumor, which he said wasn't likely because she was developing and learning at a normal rate. The "squinting," he said, was completely normal for babies and young children, and completely unrelated. So, we went home with a hopeful prognosis that this was temporary - and even if it wasn't, and the nystagmus persisted, it was nothing that was going to hold her back in life. We scheduled a follow up appointment for January, 2009 and left with directions to get an MRI done in the meantime. My intuition doubted the diagnosis.
JUNE - We went for an MRI (which showed no tumor) that took us many months to get. The waiting period was stressful. But worth it. We pushed the MRI back from April to June because my insurance kicked in and completely covered it. If we'd had it done without the better insurance plan it could have cost us up to $5,000! I felt extremely guilty about pushing it back, but the doctor assured us that we shouldn't worry about it. I can't even imagine how horrible I would have felt if she DID wind up having a brian tumor! Rich said that the sight of his little girl going limp on the table made him sick.
AUGUST - By this summer (2008) we were keenly aware of Emily's inability to see outdoors. I called the specialist and told them to move the appointment up as far as possible, because there was definitely something wrong. When I told the office secretary that my reasoning was because my daughter couldn't see in daylight, she sounded doubtful. I informed her that I'd take the doctor right outside if I had to (and I would)!
OCTOBER - Just a few days before Emily's appointment, I crossed paths with a dad who had two kids that seemed to have the same symptoms as Emily. He told me his kids have Cone Rod Dystrophy. I checked it out online and after reading what seemed like endlessly, I deduced that Emily probably had Cone Dystrophy. I brought back-up paper work to the doctor's appointment, but I never had to use it. The specialist spent a lot of time with her, dilated her pupils and spent a lot more time with her and he referred us for an ERG.
Finally we were getting somewhere!
Coming up....
A Chance Meeting that Changed our Lives
Getting Diagnosed - The ERG
Disney Vacation - Fun in the Sun?
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