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What Is Septo Optic Dysplasia?

  
  
  

What Is Septo Optic Dysplasia?

An extremely rare disorder, septo optic dysplasia is a congenital disorder in which the optic nerves do not properly develop during gestation. Also called optic nerve hypoplasia (ONH) or DeMorsier Syndrome, septo optic dysplasia is characterized by underdeveloped nerves between the eyes and the brain, brain structure abnormalities, and, commonly, an underperforming pituitary gland. Because septo optic dysplasia impacts so many different bodily functions, children with this disorder need a whole team of medical professionals to help them reach their personal potential:

Neurologists: A neurologist will run neurologic tests to determine the presence and extent of brain structure abnormalities. This information will help determine the course of treatment and give doctors an idea of the severity of the child’s disability.

Therapists: Children with septo optic dysplasia are sometimes blind. Some children with this disorder do not have visual impairments, while others fall somewhere in the middle. Additionally, children with septo optic dysplasia may have hearing, learning, and speech challenges for which they will need speech, occupational, and physical therapists in addition to teachers of the visually impaired.

Endocrinologists: Many people with septo optic dysplasia have minor to severe pituitary gland problems. As the pituitary gland is responsible for some of the body’s most essential hormone production, it is imperative that people with this disorder be regularly tested by endocrinologists to monitor their hormone production and supplement it as needed. Endocrinologists will also monitor cortisol and growth hormone production in addition to thyroid function and anti-diuretic hormone (ADH) levels, all of which can be impacted by septo optic dysplasia.

People with septo optic dysplasia can present very differently from one another and have not only different symptoms but also varying levels of severity in these symptoms. Additionally, the disorder effects only an estimated 1 in every 10,000 people, which means it is a rare disorder and therefore not something every first responder or ER doctor will think of in the event of an emergency. That’s why we strongly recommend that people with septo optic dysplasia or any congenital disorder wear medical ID jewelry at all times. Your baseline condition is important information, and if you are on hormone replacement therapy or any other medications, the EMTs and physicians assisting you truly need to know that as soon as possible in order to provide appropriate treatment and avoid dangerous drug interactions.

Do you or someone you love wear a septo optic dysplasia medical ID bracelet? We want to hear from you


Comments

My granddaughter has this syndrome. 
She is legally blind, but gets around very well. She is under the care of several doctors who seem to coordinate her care very well. She is also austistic and mentally challanged. She is verbally challanged as well, but make some sentences. We were told her life span would be short, but she is now 31 years old. She is quite a challenge at times, but funny and giggles a lot. She loves to swim and likes to push you off a float.  
She does have metabolic & hormonal deficiencies. We love her dearly and her mother does a fantastic job with her. Thanks for sharing this information on your blog. We have difficulty getting her to keep on a MA bracelet or ID, but working on it.
Posted @ Tuesday, March 05, 2013 11:38 PM by Mary Stuck
Mary, thank you so much for reading the article and sharing your story. I'm happy to hear that your granddaughter is doing so well and can tell that she brings a lot of joy to your life. We are always encouraged to share different stories and topics, because at the center of it all, we all have some things in common, like enjoying our loved ones and living life the best we can.
Posted @ Thursday, March 07, 2013 10:31 AM by Jenna White
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