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Emma's First 16 Months

When I was about 4 months old, my mom knew something was wrong with me but didn't want to admit it. She was in denial. My eyes moved back and forth like a pendulum, they fluttered whenever I was looking straight on at something. My pediatrician noticed this too and referred me to an opthalmologist. 


He ordered an MRI and sent me to a neurologist. My scan did not come back as we thought. I was diagnosed with Optic Nerve Hypoplasia, Corpus Callosum Hypogenesis, hypomyelination, bilateral semicircular canal hypoplasia. This time I was referred to the White Matter disorder Clinic that has a team of doctors including neurologists, and geneticists that have been treating me ever since.

After many long months of testing, we FINALLY received my diagnosis.



Galloway-Mowat Syndrome, also known as GAMOS, is an extremely rare genetic condition affecting my brain (seizures) and kidneys (more than likely kidney failure). This is so rare, only about 100 cases ever reported. Life expectancy is 2-28 years.

My goal is to bring awareness to GAMOS, and also increase those numbers. 

Every week, I have 2 physical therapy sessions, which my mom says I'm a "total rockstar" at, as well as occupational therapy, and another physical therapy session every other week at our home. I now see a nephrologist every other month for labs to monitor my kidneys. White matter clinic every 3 months, Opthalmologist every 3 months, a child development doctor every 6 months. 

Follow along on my blog to see more updates!!!!

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