We have a significant update to share, and finally some good news. Before I dive into Brinley’s formal diagnosis, I wanted to reflect on the past couple of months for Lauren and me. With our approach of positivity and love, we have been taking on this journey with Brinley one day at a time. We have had countless appointments, including in person appointments in Santa Rosa and Oakland, video appointments, and scheduled visits from our support team at our house. In total, we have been managing these appointments and correspondence with 11 different specialists, including Brinley’s Pediatrician, two pediatric Ophthalmologists, Geneticist, Ear Nose and Throat Doctor, Pediatric Neurologist, Pediatric Neurosurgeon, Audiologist, Speech Therapist, Gastroenterologist, and Physical Therapist who performed her first assessment this week and will visit our home weekly. We have each been supported by our personal respective therapists with weekly appointments. We are also scheduled for couples’ therapy.  It has been a lot to manage. With my return to work on Monday and Lauren’s return to work at the end of the month, we have been incredibly blessed to find an amazing caregiver and nanny for Brinley, who will help give Mom, Dad, and Brinley’s Grandparents a bit of reprieve. Courtney lives in Healdsburg and will join our family to support Brinley’s growth and development.  We feel incredibly lucky to have her on this journey. Lauren and I, as well as my mom and Lauren’s dad, continue with our pursuit of learning ASL, with intention to provide Brinley with options for communication beyond speech.

Ok, now for the update. We are thrilled to report that we have a formal diagnosis as a result of the genetic testing that was performed. Contrary to my last post, Brinley does NOT have Aicardi Syndrome. The genetic testing revealed a mutation in Brinley’s SOX2 gene, and with understanding the swap of just one single letter of genetic code, we finally have an answer to Brinley’s condition. Brinley has a neurodevelopmental spectrum disorder that is harmful in nature but exists on a spectrum that we will have to wait to understand as Brinley grows. The formal diagnosis is SOX2 Syndrome. The best way to understand this syndrome is to imagine that a baby has 10 pages of a book that encompasses their full cognitive and physical development in the womb, and now imagine that Brinley had the last 4 pages of that book ripped out. The difference between the SOX2 Microphthalmia Disorder and Aicardi Syndrome is significant, where as with Aicardi the average life expectancy is 8.7 years, and for SOX2, Brinley has the potential to live a normal healthy life depending on where she falls on the spectrum.  This genetic mutation is new in Brinley, and was not inherited from Lauren and I.  The formal SOX2 Syndrome diagnosis helps explain all of the challenges we have seen with Brinley. Hearing loss, retinal detachment, brain malformations, and challenges with her feeding. While this gene mutation is different to that of Aicardi in terms of life expecty, it still carries some of the same risks, including potential seizures. Although we have still not seen them, they are still 65% likely to occur.

We are very relieved with this news. While we will continue to support her challenges with vision, hearing, feeding, and will certainly be on the lookout for potential seizures, we are encouraged that she is more likely to live a happy fulfilled life.  We will continue to support her with physical therapy, paced feedings, and cognitive and physical development.  Brinley will hit her 5-month milestone on Valentine’s Day. This Valentine’s Day will be very special for us as we celebrate the diagnosis and shower her with as much love as humanly possible.  I want to be very clear that we would not have been able to get to this point without YOU. Your love and support have been tremendous for us, and has fueled us to make that next appointment, write the next message to her care team, and have patience with her feedings.  We feel truly blessed.

I mentioned that Brinley had her first Physical Therapy assessment this week. The PT was encouraged with Brinley and noted that she has strength in her arms and legs, and with some work she will gain head strength and control in no time.  One milestone we hit recently is that she is rolling over on her own. While hypotonia was once a concern, that is no longer a concern based on this assessment. The PT has experience working with children with significant abnormalities in their brain and mentioned that some of these kids went on to play baseball and other activities later in life. The brain works in mysterious ways, and this gives us great hope.

We are excited to see how Brinley will overcome the challenges that she has been dealt, and as parents we will continue to give her tools and support to help her succeed.  Love to you all!

❤️ Keith and Lauren Baker

More information on SOX2 Microphthalmia-esophageal atresia Syndrome can be found here:

SOX2 anophthalmia syndrome: MedlinePlus Genetics

Anophthalmia/microphthalmia-esophageal atresia syndrome | About the Disease | GARD