Posted in MEDICAL

Meeting with Miguel’s pediatrician

We just came from a meeting with Miguel’s pediatrician and I raised my suspicion about Miguel’s condition being Galloway-Mowat syndrome (GMS). I basically told her that Miguel has most of the symptoms listed under GMS. Then, together, we went over each symptom checking if it has been ruled out by tests already done on Miguel. For hiatal hernia, she said that it has been ruled out because an X-ray has already been done on Miguel’s stomach. But for all the other symptoms, we will look at the tests again.

This gives me hope that we now have a direction to be able to move forward.

So, tomorrow I will be sending his urine for protein analysis. This will rule out renal problems as a symptom of GMS. But, this may not be really significant because there are cases of GMS which showed no sign of renal problems. Anyway, it’s a good start.

We’re still waiting for a call from the Medical Genetics team. Miguel’s pedia told me she forwarded everything I sent her to the Genetics head and she’s waiting for a response from her. After that, we’re hoping to determine what further genetic testing should be done to find out if Miguel really has GMS or not.

In the meantime, I asked Miguel’s pedia for a copy of all the test results and reports in his file. She told me it is 89 pages in total! I said if it’s fine with her, I’d like to have them because I’m starting a comprehensive file on Miguel’s condition. We’re fortunate that Miguel’s pedia is a very nice person. She said she’ll instruct her assistant to prepare them for me.

I can say today’s meeting proved fruitful and I am satisfied with how it went. I will update you on how my “little filing project” went and hopefully give you tips on how to do it yourself.



I am a full-time mom to four beautiful kids -- three girls and a boy. My youngest child, Miguel, has microcephaly. He was diagnosed when he was two months old. Since then, other symptoms surface such as seizures, global developmental delay, low muscle tone and neurological disorders. His doctors have not really determined the disorder causing his symptoms so it's been my quest to do my own research and help his doctors come to a final diagnosis. I started this blog to share with others lessons I've learned along the way.

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