Galloway-Mowat Syndrome

I’ve been doing research on Galloway-Mowat syndrome for a week now. I came across that word one sleepless night while surfing the internet. I just thought of typing all of Miguel’s symptoms in the search bar to see if anything comes up. Voila! Galloway-Mowat syndrome was the first in a long list of articles in my Google search.

For the first time, I am able to find something whose symptoms are very close to what Miguel has. Among the many symptoms of the disease are: microcephaly, renal problems, hiatal hernia, epilepsy and thinning corpus callosum. Miguel seems to have all of those symptoms. He has microcephaly. He’s had problems with acid reflux since he was born. He has epilepsy and his MRI showed thin corpus callosum.

When I emailed his pediatrician about my initial findings, she replied that it may not be what Miguel has because he does not seem to have renal problems. I can say that it was quite a blow to my rising hope that I’ve finally found what’s wrong with my baby.

I continued scouring the internet for cases of children with Galloway-Mowat syndrome and found a few which described an absence of renal problems at the onset of the disease. So, I emailed Miguel’s pediatrician with the articles I found showing that children with the syndrome may not exhibit renal problems at first but will eventually have them down the road. I could say she was intrigued so we scheduled an appointment to talk about everything I found so we can plan our next actions.

While communicating with Miguel’s pediatrician, I also got in touch with the project lead of the CAUSES clinic to find out which genetic diseases they tested Miguel’s DNA with. I asked if they tried to find out if it was Galloway-Mowat syndrome. It took her about a couple of days before replying to my email and said that they would look into it and possibly do a reanalysis of Miguel’s DNA based on this.

I feel excited about how things are progressing. I have to finish preparing now for our meeting with his pediatrician tomorrow.

galloway-mowat_syndrome

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