Jonah has a rare disorder called Sept-Optic-Dysplasia. There are no known causes for this disorder which occurs in utero as the baby is developing. Septo-optic dysplasia (SOD) is also known as de Morsier syndrome, named after Swiss neurologist Georges de Morsier, who was the first to identify this congenital - which means present from birth - malformation that is characterised by a triad of 'symptoms' affecting the midline of the brain.
1. Underdeveloped optic nerves
The human eye contains around one million optic nerve bundles. SOD sufferers range in their vision capability, from being completely blind, to having only somewhat diminished vision. As Jonah Tyler is unable to verbalize how much he can see yet, we do not know for sure ho much vision he has. It is evident his vision is best up close and in the center of his visual field. He will be classified as legally blind the rest of his life. Jonah has nystagmus, which is the rapid horizontal movement of the eyes, almost as if they were 'vibrating'. This is the biggest outward sign that Jonah has limited vision. This condition is very common in people with SOD. Underdeveloped (hypoplastic) optic nerves cannot be corrected by surgery or medication, due to no abnormalities with his eyes, corrective lenses would not improve his vision.
2. Missing portion of the corpus calloscum.
The corpus calloscum is the bridge that connects the two hemispheres of the brain. Jonah is missing the front portion of this bridge thus making it more difficult for the two sides of his brain to communicate. The encouraging part of this is that the brain is able to form new connections through alternative neural pathways. Jonah's therapies and daily activities at home with us facilitate these new connections.
3. Hormone deficiencies (hypopituitarism)
Like the optic nerve chasm, and the corpus calloscum, the pituitary (hormone) functions are also found on the midline of the brain. It affects 70% of SOD cases. The hormone most commonly missing in SOD children and adults is the growth hormone. Jonah Tyler is tested regularly to ensure he has normal hormone function, he is thankfully not presenting with any deficiencies yet.
No one knows what cause Septo Optic Dysplasia. 1% of cases are genetic, and there are four gene mutations causing that 1% that we know of, with more being discovered every day. Jonah will be visiting a genetic doctor in the next several weeks to rule out a genetic cause. It is a highly variable condition. Children like Jonah Tyler have developmental delays, such as delayed gross motor skills and speech. There may also be cognitive impairment, thus far Jonah's doctors and therapists do not see any signs of this at this point. Kurt and I do not either, he is very bright and eager to learn new things. Autism is affecting around 30% of Septo Optic Dysplasia cases, other great news is that Jonah is not exhibiting any autistic behaviors. He loves to engage with others, especially his brother and sister.
5 comments:
Wow, Stacey, thanks for the update & detailed info. I've never heard of this before. So thankful Jonah has such devoted & loving parents to be his advocate & help him reach his highest potential! Just so, so thankful for you guys!
I just wanna give you a hug, but you'll have to settle for a "virtual" embrace =). Glad Jonah is here and getting great care. You've got a precious family!!
God knew what he was doing when he placed Jonah into your family. You all are amazing!
Thanks for the update on sweet little Jonah. How lucky is he to be a part of your growing family. How is his appetite these days? Hugs, Dori
We have a son that we brought home from Ethiopia in March. He was diagnosed with SOD in June, and we have his BIG appointment with the pediatric neurologist, pediatric endocrinologist, and pediatric opthamologist on Monday. Jamesy has nystagmus, and he has underdeveloped optic nerves as well as missing his septum pellucidum. I am so anxious for him, and trying to give it all over to God. Happy to find someone else in the same position we are.
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