Living with a rare disease

ovicover_29_02_16My first daughter Marilena (from Maria Eleni) was prematurely born (32 weeks of pregnancy) due to oligohydramnios, a few weeks before the Olympic Games were held in Athens in 2004. She had very bad respiratory issues to begin with. She was diagnosed with the syndrome called “OKAMOTO” when she was 2 years old. Until then we were struggling with the “unknown”…

Marilena was born with multiple congenital anomalies including cleft palate, stenosis of the ureteropelvic junction with hydronephrosis, and cardiac anomalies, along with generalized hypotonia, severe developmental delay, and growth failure. The distinctive facial appearance included microcephaly, midface hypoplasia, prominent eyes, epicanthal folds, long eyelashes, synophrys, low-set ears with long earlobe, flat nasal bridge with short upturned nose, open mouth appearance, full lower lip, and downturned mouth. She also has fixation of filum terminale and Hirschprung disease.

During pregnancy amniocentessis showed a normal 46XX karyotype. When she was 2 years old, we did a GR-CGH (Comparative Genome Hybridization) test that was negative. MRI at 3 months showed delay of myelination. Another MRI at 29 months showed normal myelination, normal ventricles and corpus callosum, no malformations.

My husband and I had no idea about her situation and were really shocked on the day she was born. We brought her home after 3 months of remaining in the hospital. I didn’t feel her as my daughter. I didn’t feel like I was her mother… I felt like I adopted her. It was a very strange feeling! But I loved her so much!



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