Mariah Born with Coffin-Siris Syndrome Stays Strong and “Sassy!”

March 3, 2015

Mariah was born via c-section after her mother struggled for hours in labor. During labor, Mariah suffered the inhalation of meconium. She was not diagnosed for four long years and  after seeing many doctors they finally discovered she had Coffin-Siris Syndrome.

She did not talk or walk for those first few years and she went through grueling physical and speech therapy. She learned a lot in a short period of time and it’s no question that she is one brave little girl. She doesnt have the ability to chew tough food so she mostly eats toddler-type foods and has to get nutrients from supplemental drinks like Pediasure.  Mariah also has hearing aids and glasses. Today she is a sassy 11-year-old girl and is a wonderful big sister and friend. She is a girly-girl and enjoys being pampered and loves books. She is my niece and I love her so much.

Here is a little about her illness: Coffin-Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There have been 31 reported cases since 1991. The numbers of occurrence since then have grown and are reported to be around 80. Characteristics include short fifth digits with hypoplastic or absent nails, low birth weight, feeding difficulties upon birth, frequent respiratory infections during infancy,hypotonia,joint laxity,delayed bone age,moderate to severe learning difficulties, global development delay, microcephaly, coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes.

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