Brantley was officially diagnosed with Bohring-Optiz Syndrome a few weeks prior to his first birthday on April 6th, 2020, which just happens to be Borhring-Opitz Syndrome Awareness Day. Bohring-Opitz Syndrome is a very rare multiple anomaly genetic mutation of the ASXL1 gene. At the time of Brantley’s diagnosis, I believe there were only about 250 documented cases in the world.
Brantley spent the first 30 days of his life in the NICU battling heart and respiratory issues due to a premature closure of the PFO (Patent Foramen Ovale) Valve that was diagnosed intrauterine which caused heart failure and cardiomyopathy. This heart condition has not previously been documented in Bohring-Optiz Syndrome. He also battled feeding issues. Our genetic doctor was introduced to us in the NICU for consultation due to the feeding issues as well as features including high arched palate without cleft, upper lip, and tongue tie, set back recessed chin, birthmarks on his forehead, back of the head near the hairline and a large birthmark above his tailbone and a tuft of hair on his tailbone, slouching shoulders, bilateral flexion deformity of his thumbs, and a very adorable unibrow. At the time, it was hard to tell if some of the feeding issues and flexion issues were due to the discomfort and fatigue from the heart issues or if there was a genetic reason. It was decided during consultation at the hospital to pursue genetic counseling after discharge from the NICU and allow Brantley a little time to grow to see if he still had some of the characteristics that were of a potential concern for any genetic conditions.
Brantley was still suffering from feeding issues and poor growth after discharge from the NICU. Brantley was being followed by a nutritionist, speech therapy and a gastroenterologist. He was suffering from severe reflux and reoccurring constipation. We followed up with his Genetic doctor in August of 2019. It was decided at that time to pursue a full genetic testing panel as well as a cardiomyopathy panel. Nick and I also had a full genetic panel. There was no evidence of Bohring-Opitz Syndrome on either side of the family.
Brantley’s diagnosis made sense due to a lot of the conditions that Brantley had been suffering from. Low muscle tone is documented in Bohring-Opitz Syndrome which explains the constipation and reflux. We also found out that he was suffering from Cyclic Vomiting Syndrome which is also documented in BOS. He will have renal ultrasounds every three months due to risk of Wilms Tumors (tumor of the kidneys) until he is 8 years old. An eye examination was recommended as well because myopia is documented in BOS. The eye exam revealed Bilateral Myopia (nearsightedness), Bilateral Extropia (alignment) and Bilateral Astigmatism. He has also been diagnosed with zigzag scoliosis, sleep apnea, tracheomalacia, Laryngomalacia, risk for seizure activity, development delay and thinning of the corpus collosum.
In the twists and turns of confusion and frustration with everything that Brantley went through prior to his diagnosis, finding out about his condition has been bittersweet. At first it was unsettling to know that Brantley has such a rare condition with very little documentation. I am now very thankful that we do know what is going on at such an early age because there is enough information to be proactive with his medical care and therapies. We work hard to stay positive and give Brantley every opportunity possible to reach his very own milestones. We will only show him love and positivity. We will never push him but always encourage him.
Despite everything that Brantley goes through, he is very social, sweet, loving, funny and extremely determined. He shows us everyday that he has the drive to achieve success in everything he does. He loves music and his family. I plan on sharing Brantley’s journey and discuss each of his conditions in much more detail in separate blog posts. I know that there is not a lot of documentation regarding BOS. My goal is to share his story so that there is a little more information available. I also know that there are individuals that may be suffering from a condition that he suffers from that may not be related to BOS and we may be able to help by offering our story.
Thank you for taking the time to read our post. My next post will be going backwards a little and share my pregnancy and delivery story. He was communicating with us in his own way from the womb letting us know that there was a problem and we needed to listen.