Summary of Symptoms/Anomalies
- Rubinstein-Taybi Syndrome
- Global Developmental Delay
- Hypoplasia of the Corpus Callosum
- Small deep set eyes
- Flat Nasal Bridge
- Thin Philtrum
- Low Set Ears
- Tubes for Chronic Ear Infections
- Bilateral Coloboma
- Abnormal Tear Ducts [Upper: Missing; Lower: Very Small]
- Mild Mixed Bilateral Hearing Loss
- Feeding Difficulties
- Bicuspid Aortic Valve
- Dilated Aortic Root
- Bilateral Syndactyly [4th & 5th digit]
- Single Palmar Crease
- G-Tube withOUT Nissen
A Little About Where Things Stand With All the Doctors
Cardiology: Braxton has a true Bicuspid Aortic Valve and Dilated Aortic Root. His Cardiologist says that for having a heart defect his heart is actually functioning normally as it should. We follow-up with him every 6 months right now just to keep an eye on everything and make sure his heart is okay.
Ear Nose and Throat (ENT): Braxton had Tubes placed April 6, 2012 due to chronic ear infections. It seemed never-ending from the time he turned 3 months. Since having the tubes placed, Braxton has only had one double ear infection, but it cleared just fine and no issues since. The ENT also sent Braxton for additional Audiology testing and we found out Braxton has Mild Bilateral Mixed Hearing Loss. He requires hearing aids to be able to hear and learn speech. Braxton has also been extremely congested since birth. We asked about having his sinuses probed, but at this point the Dr feels it wouldn’t really help him because the sinuses are too small.
Endocrinologist: The endocrinologist determined that Braxton does not have any issues with growth hormones at this time. His last blood work showed his Nutrition to be a little low but he’s been sick pretty often and having issues keeping his feeds down which could be why he wasn’t absorbing nutrients as he should. We have a new feeding plan in place so this should resolve soon.
Gastroenterology (GI): We had a major setback in August of 2012. Braxton was eating and drinking almost completely by mouth, but he got pneumonia and regressed. He stopped taking anything by mouth so we switched him back to full pump feedings. He started vomiting almost every feed every single day. We finally decided to switch over to a blenderized diet and things have been amazing since then! Braxton is now tolerating his feeds and not vomiting at all. His hair is growing in thicker and healthier. He’s even started eating a little by mouth again! It’s a slow process, but slowly but surely we are getting back to where we were.
Genetics: Braxton is currently still undiagnosed. His geneticist seems to still be stumped. He doesn’t quite fit into anything right now. In NICU Braxton had all chromosomes tested and was specifically checked for Trisomy-13, 18, & 21 – All tests came back Normal. A few weeks after released from NICU the geneticist did a MicroArray to check for chromosome additions and deletions, but that also returned Normal. Most recently we had the ZEB2 and SALL4 genes tested to check for Mowat Wilson Syndrome and Duane Radial Ray. These also returned as Normal. We follow-up with her every 6 months as well to check progress and differentials to see if Braxton “fits” into anything. We recently submitted an application to NIH’s Undiagnosed Disease Program to see if they will accept Braxton for further testing to hopefully find a diagnosis. In December, we had Exome Sequencing done and should hopefully have those results in April.
Hand Surgeon: Braxton had Bilateral Syndactyly of his 4th and 5th digits. He had surgery to correct this on August 24, 2012 and he’s recovered fully. He has full use of both hands and is getting better with grabbing and handling objects. Yay!
Neurology: Braxton had an MRI September 1, 2011 which showed a dysplastic corpus callosum and benign subarachnoid spaces. Dysplasia of the corpus callosum is a midline disorder and his is simply thinner than normal. The implications of this are still unclear as to what this means for Braxton and his mental capabilities now and in the future. The neurologist is overall pleased with Braxton’s progress. He is doing everything he should developmentally in order, it’s just delayed. We also follow-up with him every 6 months to check progress.
Ophthalmology: Braxton has a Bilateral Coloboma and abnormal tear ducts. The coloboma is a hole in the iris where it didn’t close completely. This is a midline condition and could be caused by the dysplastic corpus callosum, but no definite answer there. The coloboma in each eye does NOT affect the optic nerve, so Braxton should not have any vision difficulties. At most, he may have a blank spot in his field of vision, but the brain should compensate and fill that in for him. His upper tear ducts are missing and the lower tear ducts are incredibly small. We tried a probing and irrigation when his ear tubes were placed on April 6, 2012 but the ducts were so small even the smallest probing instrument was difficult to get in. As a result, Braxton’s eyes are constantly goopy and matted. It’s worse when he’s sick, but when he is well they eyes do seem to actually clear up. The Dr wants to wait a few more months and as he gets older, his tear ducts will get bigger and probing & irrigation procedure can be attempted again. We also recently noticed Braxton crossing his eyes. An atropine refraction was done and determined that glasses/patching weren’t needed right now to correct this. We see her about every 6 months too.
Orthopedics: We recently took Brax in to see an orthopedic doctor to follow-up. In October the Dr saw that Braxton had mild scoliosis…he had a 16 degree curve in his spine. We followed up in January and the curve had decreased to 9 degrees! The Dr said that in children, scoliosis is often outgrown, and that certainly seems to be the case with Braxton. He also has delayed ossification in his right hip, which means that the part where his thigh connects to the hip is slightly delayed in developing. This is also something he may grow out of and we’ll just have to watch it over time. We’ll follow up in 6 months again to see how he is doing.
Pediatric Surgeon: Braxton has a pediatric surgeon who placed his G-Tube. We see him a few months after we change out Braxton’s G-Tube just to be sure the site is healthy and he doesn’t need a new button soon.
Therapies: Currently, Braxton has Physical, Occupational and Speech Therapy that he sees twice a week. They are all in-home visits. Occasionally, when Braxton is at daycare they will see him there, but most of his visits are in-home. Physical Therapy is working on decreasing Braxton’s high tone and crawling. His tone is much better now than when he was born. At birth he was very tight and somewhat spastic. A diagnosis of Cerebral Palsy was in place early, but it isn’t really true for Braxton. He’s crawling now too, so the next goal is to work on kneeling and getting to a stand to walk. Occupational Therapy is working with the hands and getting Braxton to manipulate toys correctly. Speech Therapy is working on getting Braxton back to feeding by mouth. He’s slowly tolerating pureed foods again. We’ve been able to get him to take about an ounce by mouth of food, but still no bottle. He just plays with it. Braxton also has Auditory and Vision Therapy once a week through the School District to help us with the hearing aids and getting him to focus and track visually as he should.
Whew! I think I got everything and everyone. Sure is a lot that Braxton has been through and continues to go through. The one thing that makes everything tolerable, is that Braxton is such a happy baby! He is always smiling and laughing. He very rarely fusses or cries too much. He is an absolute joy to be around!