Dalal Dawood Baumgartner is organizing this fundraiser.
This is our beautiful little girl Naomi.
She is a very loving and caring girl and enjoys the company of others and giving you a “high five” when she sees you. She has an ability to light up a room and once you meet her, you will not forget her smile or her infectious giggle!
Naomi is 3 years and 10 months and has recently been diagnosed with a rare genetic disorder called SATB2 Associated Syndrome, which is also known as Glass Syndrome.
Naomi was the first to be diagnosed in Westmead Children’s Hospital, and is one out of six cases known in Australia. Worldwide, there are only 204 cases known to date.
Naomi was born with a cleft in the soft palate of her mouth, has abnormalities within her teeth, speaks no more than 5 words, but is very vocal in her own way.
To help with communication, we have started teaching Naomi key word sign and she has picked up a few words like iPad, toilet and shower.
She also has low muscle tone and is hypermobile which makes it hard for her to go up and down stairs, jump, climb and run. To help with her development, we are taking Naomi to physiotherapy, occupational therapy, speech therapy as well as a few other learning and development courses, and medical appointments that will help Naomi.
These symptoms are all common for the SATB2 Associated Syndrome.
However, there are many other unknowns that we need to find answers to such as: Will she have seizers? Will she get osteoporosis? Will she have a turning eye? Will she be toilet trained and ready for school? How will she progress with school? These are some of the challenges that SATB2 children face, even in their late teens.
Due to the rare nature of the syndrome, it is important to carry out testing and take opportunities presented to us while Naomi is still young, so that we can be prepared to help her the best we can.
One such opportunity includes a conference in Little Rock, Arkansas USA, where Dr. Zarate and his team will present and clinically test Naomi to give a clearer indication on her development.
￼Dr Zarate is the only doctor worldwide who is conducting research into the SATB2 Associated Syndrome.
Our family would like to take this opportunity but due to financial circumstances, we will need your help to do this! We kindly ask for your assistance in paying for Naomi's airfare and accommodation.
This would greatly assist our family and would give us an amazing opportunity and insight into the syndrome, to prepare for and help Naomi especially as she grows up.