Naomi's Story

Naomi’s Story – by Dalals

The best way to describe Naomi is social, caring and loving. Naomi can light up a room with her presence, and once you meet her, you will not forget her sweet smile or her infectious giggle!

But it wasn’t all smiles and giggles. When she was two days old, we discovered Naomi had a cleft in her soft palate, making it difficult to feed. At eight months, Naomi underwent a cleft palate repair and grommet surgery. Naomi was delayed in her development, finally sitting unaided at the age of one. Feeding and swallowing issues were a concern and she required constant supervision to avoid choking.

Sleeping is also an issue, and Naomi was delayed in crawling and walking due to low muscle tone and flexible joints. Finally, at the age of two, Naomi started to walk, though awkwardly and with frequent tripping, which broke our hearts.

We saw a paediatrician, who advised, “she just needs more time”. We felt there was another cause for delays. Naomi wasn’t verbal like her peers. Even babbling would be intermittent, and she would growl. We commenced speech therapy and physiotherapy.

In August 2017, we were tired of hearing that Naomi “would catch up, give it time,” or, “Every child develops individually”. We knew something wasn’t right and changed paediatricians and requested genetic testing. A microarray test was performed, and six weeks later, I received the phone call that changed everything. It made so many things clearer, but at the same time, it didn’t.

I was told that Naomi had SATB2, a rare genetic syndrome; however, I was none the wiser not understanding genetics and medical jargon. It did reassure me I wasn’t a crazy mum, but then the heartbreaking reality hit me. I was desperate for information on SATB2 and how it will affect Naomi. The only information I could find was that SATB2 presents as intellectual disability, developmental disability, severe speech anomalies and absent speech. A US research paper gave further details about the syndrome. This included: seizures, teeth abnormalities, cleft palate, feeding difficulties, bone abnormalities and osteopenia, eye abnormalities, and the list goes on.

Finally, my questions were answered but more came to mind. I wanted to rewind a few months where I didn’t know anything about SATB2 and thought Naomi was just catching up! Thankfully we joined the SATB2 Facebook group, where we found comfort and support from others.

Eighteen months after Naomi’s diagnosis, life has been a roller-coaster of emotions, experiences and specialist appointments. Naomi’s development has been difficult and frustrating at times, but we have learnt to celebrate her wins no matter how small. With continued therapy and a supportive home and school environment, Naomi’s development continues to improve. We feel truly blessed to have Naomi in our family and are forever grateful.

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