The story of Oakley

Oakley was diagnosed with Nicolaides-Baraitser Syndrome in October 2019.
When I was pregnant with Oakley, we knew we wanted to choose a good, strong name for her. We chose Oakley Annabelle, like Annie Oakley.

Everything was going well through pregnancy and delivery. She did seem to develop a little more slowly than average. Our daycare provider recommended we get ahold of Infant-Toddler Services to work with her because of her developmental delays. We started at around 9 months with Physical Therapy because she wasn’t sitting up on her own yet. We started weekly but as she made progress we gradually changed to monthly visits. When it came time for her 18-month check-up we asked to be referred to a Neurologist because she still wasn’t walking yet and her speech was mostly babbling. The Neurologist did developmental testing and said that she had global developmental delay. She did not appear to have Autism due to her very social personality. She ran a Thyroid Panel, Metabolic Panel, and did blood testing and the first round of genetic testing. She also had an ultrasound of her soft spot done because it had not closed fully. All of that came back normal so she ordered an MRI to see if it was a structural issue. I was convinced it was a thyroid issue due to her symptoms such as an umbilical hernia, delayed tooth eruption, developmental delays, and dry skin and hair. She ran more thyroid testing and a more in-depth genetic test. After about 3 months we finally got the genetic testing report.
We were told that Oakley has a mutation in the SMARCA-2 gene and PUM1. After our consult with the Neurologist, we learned that the mutation in the PUM1 gene does not seem to be significant. The mutation in SMARCA-2 (Nicolaides-Baraitser Syndrome) matches up with almost all of her symptoms. We learned that there is very little information on this syndrome and there are around 250 diagnosed cases worldwide. There is a Facebook page for families with children that have NCBRS and it has been amazing. It has helped tremendously because we can ask the other families what they have gone through and get advice from people going through the same thing.
NCBRS can cause developmental delays, epilepsy, short stature, sparse hair, and from the research so far, does not seem to affect life expectancy. Oakley is a very happy child which seems to be true of most of the children (and adults) with NCBRS. She is getting ready to start Kindergarten in August 2023. She has been going to speech therapy, occupational therapy, and physical therapy for the last two years and it has helped tremendously. She loves her therapists! She has also been going to Headstart for almost two years and has made so much progress.

Currently, she is making so many new sounds and learning to communicate in different ways. Her attention span has improved and her awareness. Her seizures are controlled with two medications. She is such a happy child! We wouldn’t change her for anything. It has definitely been a journey, but it has been so rewarding. Her timeline for hitting milestones looks a little different than other kids her age, but when she does hit them, my heart feels like it’s going to explode with excitement and gratitude. Oakley brings us so much joy with her ornery smile and the best snuggles.