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ROSIE

South Carolina, USA

Our precious Rosie was born in June 2013.  Although she is our fifth child, my heart was anxious leading up to her birth.  After being in and out of fetal distress during labor, she was born healthy. Her umbilical cord was extremely short and her heart had a very tiny hole in it, but the pediatrician declared her ‘perfect’ and sent us home with our beautiful baby.  As she developed we noticed she was developmentally delayed in her movements, speech, and cognitive function but she was still within a normal range. She walked around 1 ½ years old and talked a little before she turned 2 years old. She worked hard to learn enough American Sign Language to make herself understood.  After she turned 2, her vocabulary was limited and her clarity of speech was not improving much. She started speech and music therapy and she made slow gains in her speech intelligibility. At 2 ½ years old she was starting to fall behind the normal range of developmental milestones.

Apart from her developmental delays, we were concerned for her after noticing she was breathing unevenly and would stop breathing for short periods of time in her sleep.  After much persistence, we were able to get her tested and found out she had obstructive and central sleep apnea. This diagnosis coupled with her developmental delays began the search for a genetic condition.  We had two rounds of genetic testing to help us search for an answer to Rosie’s condition. The first result we received was “apparently normal female”. The second test with whole exome sequencing found she had a mutation of the WAC gene.  The genetic counselor had very little information to give me on this mutation and told me we may never find another family with her syndrome. I was grateful to have an answer but felt so alone in this new knowledge. I looked up the studies and read each one start to finish.  It was overwhelming and somewhat disconcerting. I contacted Dr. Shinawi, who informed us of the syndrome’s name and connected us with other families via Facebook. I was so grateful to get to know other families around the world who understood what it was like to parent a child with DESSH.

After a rough journey, we are grateful to have a diagnosis for Rosie.  We are still learning what it means for her to have DESSH. As she is getting older her anxiety has increased, but so have her coping skills.  She can be a bundle of energy, but she tires easily from playing and learning. We change direction when she needs us to, walking this journey with her.  Rosie is a joy to our family and all those around her. She is brave, loving, and outgoing. Clarity of speech is still an issue for her, but she would be very happy to give you a hug and show you what is in her ever-present bag.  We expect a different path for Rosie than we do for our other children, but we also know our lives are made better because of her.