Naomi
Four-year-old Naomi is a beautiful little girl who enjoys the company of others and loves seeing everyone around her sharing cuddles and kisses. But although she is so young, she has already been through so much.
When Naomi was just two days old, her parents were informed that she had been born with a cleft in her soft palate, which made it difficult for her to latch on and feed. At eight months of age, Naomi was required to undergo surgery to have the cleft palate repaired.
Naomi continued to display a number of concerning signs, including the inability to talk, to walk steadily, overly large teeth, and having trouble sleeping.
In August 2017, Naomi’s parents asked for a genetic test.
“Six weeks later, I received the phone call that changed everything and made so many things clearer, but at the same time it didn’t."
Naomi had been diagnosed with SATB2 Associated Syndrome (SAS), a rare genetic syndrome. There was not much information available about the syndrome, however after much searching, Naomi’s family was able to find a research paper with more details on the syndrome, and a social media page for a support group for families with children like Naomi.
“Very soon this group became our family, we started to share our story and our experiences with others around the world who had children like my Naomi. I spent so many late nights reading about their kids and asking them a thousand questions about their kids, what we can expect, what tests I need to do and which therapies are best for our kids.”
“We celebrate every success that Naomi achieves, it may be the smallest of things like nodding for yes with intent or simply showing us that she is hungry. With every success there is hard work and lots of patience.”
“At times it does get frustrating, when all we want is to hear Naomi saying what she wants or needs."
"Over the last 8 months, we have learnt some Key Word Sign, and Naomi has been trying so hard to learn new signs and shows us her very own signs that seem to make sense! She mastered her favourite sign, which is iPad, and then not long after that she picked up a few more to let us know when she is hungry or when she wants more!”
Learn more about SATB2-associated syndrome here or see these two support documents:
SATB2-Information-Sheet_English_Families.pdfSATB2-Information-Sheet_English_Medical.pdf