Address

3 Higgins Drive
Vernon, NJ 07462

Contact

Follow

+1 (718) 406-3842

©2018 by DeSanto Shinawi Syndrome. Proudly created with Wix.com

alyssa.jpg

ALYSSA

Mansfield, England

Alyssa was born in 2004 by c-section at 38 weeks. She was born early because the umbilical cord was short and she was in the breach position. She started with constipation at around 4 months and she wasn't able to wean properly; she would gag on food no matter how smooth or thin. We noticed she wasn't doing any of the 'normal' baby things like turning over lifting her head whilst having 'Tummy Time'. We fought until she was a year and a half before we were finally referred to physio. She stood unaided at around two and a half years old. Her speech didn't come until she was around four years old. Alyssa's younger brother was born the day before her first birthday and quickly surpassed Alyssa in terms of development.

Alyssa was diagnosed with Severe Developmental Delay at five years old. Late 2011 we were asked for Alyssa to take part in a two year study to look at her genes to determine a cause for her symptoms. In 2014 we received the results that they found a nonsense mutation at the WAC Gene (c.1852c>T p.Q618), or DeSanto Shinawi Syndrome.

Alyssa is a very happy smiley girl who loves playing her music as loud as she can bare, loves going to school to see her friends and her favourite TAs, and loves arguing with her brothers!