Are you a parent or caregiver?
Are you a health professional?
Scarlett was born after multiple inductions at 37 weeks due to a slowing of her growth and Kim’s preeclampsia. Although pre-natal scans showed typical development, it was only when she was born that her Cleft Palate was discovered. From approx. 8 hours old, Scarlett began having Dusky Episodes where she would stop breathing, foam at the mouth, turn blue, clamp her mouth shut and go rigid. She was admitted to the NICU at 24 hours old for monitoring, light therapy due to jaundice and feeding complications due to her Cleft Palate. She was discharged at 5 days old. During her stay in the NICU, Scarlett lost a significant amount of weight.
It was concluded after a few weeks in and out of hospital that, in the absence of evidence to prove otherwise, reflux was to blame for Scarlett’s Dusky Episodes, feeding issues and poor weight gain – however we knew there was something else going on and that it was most definitely not reflux (it was later concluded that the episodes were likely seizures). All of her scans and tests came up with nothing and they eventually faded at about 9 months of age. She then had her palate repaired at 10 month of age.
Developmentally, Scarlett didn’t crawl until she was 14 months old and she didn’t walk until she was 22 months old. Scarlett is still non-verbal and we are yet to find a mode of communication that works for her, although she is showing increasing interest in AUSLAN.
We received Scarlett’s diagnosis of SATB2-Associated Syndrome in April 2020 after finally finding a paediatrician and geneticist who were as curious about her as were and offered us genetic testing. It was then an 18 month wait for Whole Genome Sequencing results to come back. Whilst the diagnosis doesn’t define her, it offers explanations for Scarlett’s symptoms and
Scarlett ticks just about every clinical characteristic box for SATB2. Since her genetic diagnosis, she has also received several additional diagnoses of Epilepsy, ASD Level 3 and ADHD and is currently on several medications for these. She is also receiving treatment for low bone mineral density, strabismus, sleep problems, hypotonia and feet/leg/hip abnormalities.
Despite her challenges, Scarlett is a joyful, happy, loving and resilient little girl. She loves playing with her little brother Jasper, dancing along to her favourite musical movies, going to school and running around the park. Our hope is that, through her many therapies, we are able to help Scarlett learn to communicate and to continue to grow her confidence and curiosity.
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 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 feeding difficult. At eight months, Naomi underwent a cleft palate repair and grommet surgery. Naomi was delayed in her development, finally sitting unaided at age one. Feeding and swallowing issues were a concern, and Naomi required constant assistance and supervision to avoid choking.
From a young age, and still ongoing today, Naomi experiences difficulties with falling asleep and has issues with quality of sleep. Naomi was delayed in crawling and walking due to low muscle tone and hypermobility with her joints, and she continues to have difficulty with fine and gross motor skills. Naomi experienced delayed milestones and, at age two, started to walk awkwardly and with frequent tripping, which broke our hearts. Naomi wasn’t verbal like her peers. Even babbling would be intermittent, and she would growl.
The paediatrician, who had oversight of Naomi since birth, advised, “she just needs more time”. We felt there was another cause for the delays and could not accept the response we had received. We decided to commence speech therapy and physiotherapy to find ways to help Naomi with development and delayed milestones, and maybe, we might find out what was happening with Naomi.
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, so we decided to change paediatricians and requested genetic testing. A microarray test was performed, and six weeks later, we received a phone call that changed everything.
It made so many things more straightforward, but at the same time, it didn’t.
We picked up the report from the doctor’s receptionist and briefly had her results explained by the speech pathologist at the cleft clinic; it was confirmed that Naomi was the first to receive the diagnosis at the children’s hospital.
After a repeat of the genetics test, including testing for her father and me, we waited a further eight weeks, and it confirmed Naomi’s diagnosis of Glass Syndrome (also known as SATB2 Associated Syndrome,) a rare genetic condition; however, we were none the wiser not understanding genetics and medical jargon. It did reassure us that we didn’t imagine things as first-time parents.
The heartbreaking reality hit us, and we were desperate for information on SATB2 Associated Syndrome and how it will affect Naomi. The only information I could find was that SATB2 presents with the following symptoms; 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 catching up! Thankfully we joined the SATB2 Facebook group, where we found comfort and support from others, and we were able to share everyday experiences, especially with families here in Australia.
Eighteen months after Naomi’s diagnosis, life had been a roller-coaster of emotions, experiences, and specialist appointments. Without a clear plan of what testings and specialists we should be seeing, we were faced with figuring this out on our own, which put us under a lot of pressure and stress, as we weren’t familiar with the medical system and whom to approach. On many occasions, the specialists found it difficult to provide advice as they were unfamiliar with Naomi’s condition and not interested in further unpacking this as it was a rare condition. Only a few key specialists took an interest in Naomi’s genetic condition and were willing to work with us.
Naomi’s development has been challenging and frustrating because, as parents, we want to offer our children the best possible support. It’s been five years since Naomi’s diagnosis, and we have seen Naomi develop using structured support and therapy.
Naomi remains non-verbal, however, she has been improving her signing in Auslan and using her communication device, although she much prefers to sign.
Her sleep remains to be of concern and requires further investigation.
We continue to celebrate her wins no matter how small, and with continued therapy and a supportive home, school environments, and loving family, Naomi’s development will continue to improve. We feel truly blessed to have Naomi in our family and are forever grateful. We will always change the world for her and never change her to suit the world.
If you’d like to follow Naomi’s story, head over to her Facebook page ‘Hope with SATB2’
Naomi has also been featured in a few articles, raising awareness of SATB2 Associated Syndrome and rare diseases, click the links below: