Maple Valley mom Nina O’Brien is on a mission. She’s working tirelessly to raise awareness for a rare genetic condition her 9 year-old daughter, Alana, was born with. Earlier this year, she wrote to Governor Inslee to request official acknowledgement of her daughter’s disability and was given a Governor’s Proclamation, naming August 22 ‘SATB2 Associated Syndrome Awareness Day.’
SATB2 is a rare genetic disorder that affects the second chromosome, characterized by significant developmental delays with limited to absent speech, behavioral issues, and craniofacial abnormalities. In Alana’s case, a portion of her second chromosome is in the wrong order, affecting nearly every organ in her body. She has fragile bones, abnormal teeth, and significant cognitive disabilities. She requires help with eating, dressing and toileting. Pretty much any activity of daily life requires assistance. She is non-verbal and primarily communicates by using an iPad, touching images that correspond to words she wants to convey. One of her favorites is ‘Cookies.’
Despite the developmental and cognitive challenges she faces, Alana is much more than her disability. In fact, in many ways, she’s just like any other 9 year-old. “She has the sweetest giggle and a very bubbly personality,” Nina says. “She absolutely loves music, coloring, and milkshakes from McDonald’s. She’s charismatic and funny and is just a very happy kid.”
After spending years researching, going to conferences, meeting with doctors, therapists, educators and scientists, spreading awareness about SATB2 in her social circles and online, Nina requested official acknowledgement of SATB2 in April of this year and received a response from Governor Inslee the first week of August with the official proclamation.
“I felt seen. I felt like Alana was seen,” Nina said of receiving the proclamation. “My whole attitude about her disability has changed over the past year. I’ve learned that this isn’t something to hide. It’s 2021. We should acknowledge it and seek to learn more. It deserves a Day. Alana and every other person who has SATB2 deserves to have their stories told.”
The proclamation wasn’t the first milestone in Alana’s journey, however. In fact, she didn’t receive an official diagnosis until she was five years old, despite exhibiting serious symptoms her entire life. Because the condition wasn’t widely understood or acknowledged, it took years of physical and neurological testing, different therapies and observing Alana’s behavior both by doctors and caregivers, and a whole Exome Sequencing genetic testing that determined her final diagnosis of SATB2. Unfortunately, due to the lack of knowledge and experience surrounding the condition, many children go undiagnosed. While Nina was relieved to finally have a diagnosis, she knew the real work had just begun.
Going forward, Nina is hoping to spread awareness in public schools about SATB2, with all of its nuances and challenges, as well as collaborating with teachers, paraeducators and administrators to share strategies for supporting students who have the disability, as well as their caregivers.
She is also hoping to inspire other people to learn more and consider getting their disabled child tested for this condition if they exhibit similar behaviors and challenges. She invites anyone who wants to learn more to be a part of the community, where they can connect with other families for support and education about SATB2. She’s also seeking funding to research more about this rare condition for things like therapies that can ease the symptoms and help kids like Alana become more self-sufficient.
“These kids deserve the opportunity to live the best life they can,” Nina says. “Alana deserves it.”
The proclamation from Governor Inslee is just the beginning of what she hopes will be a lot more awareness and understanding about this condition in the future.
If you are looking for more information about SATB2 or want to donate, visit https://satb2gene.org/. 100 percent of the money raised this month goes towards researching SATB2 and helping kids like Alana.
______________________________________________________________________________________
CORE FEATURES OF SATB2-ASSOCIATED SYNDROME (SAS) CAN BE REMEMBERED BY THE FOLLOWING ACRONYM USING THE NAME OF THE SATB2 GENE:
S: Severe speech anomalies
A: Abnormalities of the palate
T: Teeth anomalies
B: Behavioral issues with or without Bone or Brain MRI anomalies2: Age of onset before 2 years