Next Steps

Today continued a roller coaster of emotions. I woke up resolved to be positive and made it till 11am without crying (ironically, while I was talking to my mom and telling her how much better I was today:). I continued to bug Children's Hospital to get the neurologist appt scheduled. David and I both desperately want a game plan and an appt on the calendar. As is typical, our referall had reached their office, but the nurses were evaluating our case for "best doctor fit and urgency". We're really hopeful this doesn't mean we'll have to wait for weeks. While so serious for our family, her condition won't require immediate treatment like a tumor, or other brain injury might. Ours will be a long journey of discovery and therapy.

I finally spoke with our pediatrician, Dr. Dudas, this afternoon and appreciated his call. I'm learning that he will be the "umbrella" physician that oversees a plethora of specialists. His early opinion is that Taylor has Septo-Optic Dysplasia. We still need to see the neurologist and now an endocrinologist to confirm. Septo-Optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum - according to the National Institute of Neurological Disorders. Thankfully, we've had Taylor's eyes extensively checked out and they were normal at her last appt and her optic nerve is normal on her MRI. This is very good news for her future vision. We will see an endocrinologist to run a full work-up on Taylor, but Dr. Dudas had consulted with an endocrinologist at Children's and if there were major issues, we would have seen evidence of them by now (severe jaundice at birth, sickness, etc). So, hopefully any pituitary issues will be minor, if at all, and managed with medication. The great unknown is her physical and mental development - we're praying that she will be one of the "normal" cases with this condition, or have minor symptoms. She has several positive skills already - Taylor can babble, smile and recognize family members, bat at toys, nearly sit alone, and stand holding onto something. She can't roll, crawl, or reach for a toy and pick it up. She is being assessed for developmental delays (physical, social, communication, and others) next week by the Boyer Clinic, a speciality clinic that can assess her condition at this point and recommend therapy options.

I had wonderful conversations with my dear friend Tracy, who has a doctorate in neurology, and little sis Shawna, who does physical therapy with children. Tracy is going to help us locate "the best" doctor for this rare condition and she and Shawna can offer us a wealth of knowledge. We're very fortunate to have such expertise at our fingertips.

We're still in the frightened phase and will be really happy to meet with the neurologist and endocrinologist - we should have those appts. scheduled soon. I had my first "why Taylor" moment today - when Dr. Dudas (who was Chief of Pediatrics at Children's and a pediatrician for the last 15 years), explained he had never seen this condition since it statistically appears in 5 kids out of a million.

David and I are really trying to look ahead and trust that God has a plan and simply, "it is what it is". We know for sure that Taylor is a gift and has a special place in this world. Every smile and day with her is a joy and she will have a blessed life, and she blesses us with her presence every day.