You can read about Braxton’s First Year in this entry: The First Year
Braxton spent the first 21 months of his life without a diagnosis. He had so many issues but didn’t quite fit into any clinical description of any syndromes. After several different genetic tests, it was determined Whole Exome Sequencing was warranted. So, in December of 2012 we had blood drawn and sent off to Baylor College of Medicine. In April of 2013, we received the results which told us Braxton had Rubinstein-Taybi Syndrome. Although making the diagnosis is usually pretty straightforward, Braxton also had other mutations which made the diagnosis so difficult. Among those were 3 genes responsible for hearing. Due to the variance found, Braxton has moderate hearing loss requiring the use of hearing aids. In addition to many of the common RTS facial features, Braxton does have a congenital heart defect (bicuspid aortic valve and dilated aortic root), a brain abnormality (hypoplasia of the corpus callosum), feeding difficulties requiring the use of a G-Tube, ear tubes due to chronic ear infections, eye abnormalities (bilateral coloboma and absent upper tear ducts with very small lower tear ducts), and orthopedic issues (mild scoliosis and delayed ossification in the hips). Braxton was born with syndactyly (webbing of the fingers) of his ring and pinky finger, but he had surgery to correct this when he was 14 months old. The site has healed very nicely and Braxton has great use of hands which is being perfected with our Occupational Therapist. He does have a developmental delay in all areas. At almost 2 years old he is mostly nonverbal, but is making sounds and we are hopeful he will learn to speak. We are learning sign language and working with our Speech Therapist about the possibility of Alternative Technological Communication. Braxton started crawling at about 15 months and is currently working on cruising and learning to walk. Currently, he is pretty much stable with all specialists and we follow up regularly with each of them. You can read a little about where things stand specifically with each specialist here.
Despite Braxton’s diagnosis, he exudes so much joy and truly brings light into the lives of everyone he meets. There are many things Braxton may not be able to do because of his diagnosis, but we refuse to hold him back because of it. He surprises us each and every day with all the progress he is making, and we can’t wait to see what he does next.
Thank you for visiting our site and joining us on the journey that is full of so much life.
Vanessa, Joseph, Big sister Aileen, and of course, Braxton Joseph 🙂