Miguel Born With Multiple Anomalies Finally Diagnosed with Mowat Wilson

March 8, 2015

At birth, Miguel presented with a series of dysmorphic features. This is what led doctors to perform genetic tests and explore the possibility of chromosomal abnormalities. A few days later they discovered he had Hirschprung disease.

They immediately had to begin a colostomy surgery as Miguel had problem in his intestines and could not evacuate his bowels. The next problem was detected during a test was his having dysgenesis of Corpus Callosum.

Dysgenesis (malformation) of the corpus callosum are brain abnormalities involving the large bundle of nerve fibers that connect the two hemispheres of the brain (the corpus callosum). These fibers may be completely absent, partially absent, thin, or malformed in some way. (UMaine)

We are now also aware that he has a genital anomaly called hypospadias, he also has this in his right kidney. We have had a lot of difficulty with feeding as Miguel also has an issue with his palate which is abnormal and has a bridle.

He has gone through three surgeries: one for his intestines and two for his hypospadias.

His heart was also affected as he has a blood clotting problem, his PTT lab results showed very high levels.

Collectively, he was finally diagnosed with Mowat Wilson by a geneticist and a few very expensive molecular testing.

On behalf of our family, I’d like to thank singer Jennifer Lopez (the Lopez Family Foundation) which covered the costs of these tests. My child has mental retardation and has delayed motor development because of his neurological problem. Our doctors say much occupational therapy is needed, yet we are hopeful for the future.

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