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from Fall 97 issue

Septo-Optic Dysplasia / De Morsier Syndrome

by Jean Robinson, Family Support Specialist, TSBVI Outreach Adapted in part from information found on the NORD Web page.

Septo-optic dsyplasia (SOD) is a birth defect characterized by a malformed optic disk and nerve, pituitary deficiencies and often the absence of the septum pellucidum which separates the ventricles of the brain. As a consequence of these abnormalities, visual impairment and inadequate growth hormones may occur.

Currently, there is no way to correct the optical nerve problem as it is part of the brain. It will take a medical breakthrough to help those with optic nerve blindness to see.

The extent of pituitary hormone involvement varies from growth hormone deficiency to panhypopituitarism. Associated hormonal problems can include hypoglycemia and diabetes insipidus along with insufficient prolactin, adrenocorticotropic (ACTH), and thyrotropin. These problems are treated with hormone replacement therapy.

Symptoms are present at birth and primarily include decreased or no vision. Involuntary movement of the eyeballs (nystagmus), variable pupil dilation and deviation of the eyes, also may occur. Some have prolonged yellow skin discoloration (jaundice) at birth. A child that falls off the growth chart will alert professionals of a possible growth hormone deficiency. Some with (SOD) have mental retardation or learning disabilities.

The cause of SOD is not known. There is no evidence that this is a hereditary disorder. It is a rare disorder that affects males and females in equal numbers. Currently, it is thought that SOD is a more involved level of Optic Nerve Hypoplasia. SOD is often referred to as De Morsier Disease or Dwarfism-Septo-Optic-Dysplasia.

I interviewed Belinda Thomas about her 7-year-old daughter, Brianna, who was diagnosed with De Morsier syndrome, at 3 months of age. Belinda reports that Brianna exhibits most all of symptoms associated with this syndrome, which is not always the case. Brianna attends a functional academic class with other students her age, uses her cane to walk to other classrooms, and is learning braille. Her sister, Morgan, is 3 years old and another sibling is expected next April.

Can you remember your initial reaction when you found out there was a problem with Brianna and then how it changed over time? How did your husband and other family members react?

When we left the hospital, we knew about the diabetes insipidus and that the prognosis was not good. I was terrified that Brianna was not going to live and I wanted to take her home to make her better. To me, her eyes looked weird and empty but no one told me that she was blind. My husband, James, was more businesslike, read medical information and wanted to get hooked up with all the early intervention programs and therapists. He realized the services could be stopped if Brianna no longer needed them. My mom hurt for me and her granddaughter. Great-grandparents and others thought that with time, Brianna would be fine, and still think she will see one day. (Belinda can laugh about this misconception, now.) Initially, I thought I could never enjoy life again because I would always be sad and needed to be, because of Brianna's syndrome. Taking Brianna out in public was a constant reminder of her differences as people made comments about her "sleepy eyes." Depending on my mood and frame of mind at the time, I snapped back, "she's blind, not sleepy," or ignored them.

Brianna continues to have serious medical needs. I feel guilty about putting her through so many treatments and still wonder when it will stop.

What has been the hardest to accept?

I use to think loss of vision, because it affects everything, all other development. But after three years, I decided that if Brianna was not mentally retarded, at least it would be easier for me to teach her. I still go back and forth about which is worse. In the reality of daily living, the hardest to deal with is the diabetes insipidus. The first four years I had to monitor Brianna's liquid intake which meant weighing all diapers. Although she is potty-trained, it is hard to travel because of having to go to the bathroom so often.

What helped you to accept?

We had a hospital social worker working with us as soon as Brianna was born who made referrals, gave information and support. We became involved with other parents in our ECI program that specialized in blind infants and developed lifelong bonds with them and some of the therapists. The vision and O & M teachers along with the physical, occupational and speech therapists gave support, encouragement and information about raising a blind child. The program included both home- and center-based intervention which gave parents the opportunity to meet together with a licensed counselor who was on staff.

Can you describe different ways or things you did and now do to cope?

My mom would keep Brianna and give me a day off. I have learned to plan "get aways" and have grown-up fun, like going to a movie or to lunch by myself or with other adults. At really stressful times (like having another child), I know to go to a counselor and talk it out. I continue to stay in contact with past therapists and other parents in similar circumstances. My husband and I came to realize and understand that we handled stress differently. He has learned to listen to me vent and not feel he has to solve the problem. James can look at the situation more objectively and can separate himself by working harder at his job.

It would have been nice if I had gotten the whole picture at the beginning from the doctors, but it was already overwhelming. Denial can be a good thing since I can accept only a little at a time. My faith in God and prayer life help a great deal. One of my favorite verses is John 9:1-3: "As he passed by, he saw a man blind from his birth. And his disciples asked him, `Rabbi, who sinned, this man or his parents, that he was born blind?' Jesus answered, `It was not that this man sinned, or his parents, but that the works of God might be revealed in him.'"

What do you like best about Brianna? Your favorite activities?

Brianna has a loving spirit, never judges anyone and everyone gets a hug and kiss. She has a happy, easygoing disposition and is friends with everyone. We spend our free time swimming at a local water park, playing in a sandbox, and going to the park to swing.

Any advice to other parents, family members, professionals?

Educate others by telling family and friends when something they say or do is offensive and hurts you. Explain your feelings and expectations in a loving way or the offense will continue. I had to work on not resenting parents with typical children complaining about routine problems.

I ask doctors to treat parents with more kindness. Please don't run from the room after giving new information. Don't think we're stupid, it takes time for it all to sink in. All professionals need to show respect to Brianna by talking directly to her, not only to me.

Anyone who would like to contact Belinda Thomas may do so at: 6413 Tammy Ct., Watauga, TX 76148, Phone: 817-498-6027.

As with most syndromes, please remember the range of symptoms vary from extreme to mild. Each child needs to be evaluated, individually, even with the same diagnosis. Your child's temperament and your parenting style are factors that will effect the way your family copes with day to day living, but that's another article... A BIG THANK YOU TO BELINDA FOR SHARING HER EXPERIENCE!!!

RESOURCES:

National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 0612
(203) 746-6518

NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751

F. O. C. U. S.
2571 Pico Place
San Diego, CA 92109
(619) 273-1473
Information and support for parents of children with rare visual syndromes, newsletter


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