Raising a child with  Kleefstra Syndrome.

Vanessa Khoury knew that something was wrong with her newborn daughter Gabby, despite doctors telling her she seemed fine. Vanessa and her husband, Simon, refused to accept that answer and continued to push for a diagnosis. Finally, when Gabby was 11-months old, genetic testing diagnosed her with Kleefstra Syndrome (KS). There are only approximately 500 families with a child with KS in the world, and to their knowledge at the time, very few other cases in Australia. They began scouring the internet and reaching out to other Kleefstra parents around the world looking for answers, and a way to make a difference. With the Khoury family looking for information and experts in Australia, IDefine (a not-for-profit organisation founded in 2020 by a group of parents of children and families living with a KS diagnosis) connected them with Dr. Emma Palmer and the genetics team at UNSW and Sydney Children’s Hospitals Network (SCHN) Randwick. On Wine with Wita, Vanessa's interview was raw and a true representation of any parents' endless strength to advocate for their child. Vanessa openly discussed the challenges she faced with the medical system and also the challenges that Gabby faces on a regular basis. Gabby's story is a true testimony to what special needs children face daily. Her difficulties with communication was heart breaking to hear. All children deserve the right to communicate. On September 21st, Vanessa and Simon are running a gala to raise much needed funds to support Kleefstra Syndrome (KS). Visit Gabby's Instagram account below and website to donate or purchase Gala tickets. @gabbys_journey2022 For the Love of Gabby (raisely.com) Disclaimer: the purpose of this podcast is to provide information. You must not rely on the information on this podcast as an alternative to speech and language therapy. You must always consult with a Speech Pathologist, GP and/or paediatrician if you have any concerns about your child's speech, language and communication skills.