Most children with ONH/SOD have an absence or malformation of the septum pellucidum and the corpus callosum (these are called midline defects) but some children without malformations of the septum pellucidum and the corpus callosum have been diagnosed with variants ONH/SOD. All of the kids have bilateral or unilateral optic nerve hypoplasia (ONH) or short optic nerves this is usually accompanied by nystagmus which is easily observed as shaking eyes. ONH causes our children to be blind or visually impaired. Vision therapy and mobility training helps our children a lot. Also some of the children have cleft lips and/or palettes which is also considered a midline defect.

Many of our children are hypopituitarism which means their pituitary gland does not function properly or in many cases not at all. There are hormones for replacement. These hormones include, thyroid, for hypothyroidism, cortef, for cortisone deficiency, a drug called ddavp that helps with diabetes insipidus, which is a water diabetes, symptoms are an unquenchable thirst and heavy (an understatement) urination. This causes mood swings due to a fluctuation of sodium levels. Also some of the children suffer from hypoglycemia which means low blood sugar levels, and can be an indicator that growth hormone is needed. Growth hormone helps many of our children grow as many are deficient of this hormone too. Sometimes because of the pituitary problems, a child with ONH/SOD will have precocious puberty, which is an early onset of puberty or the onset of puberty will have not come because there is no hormone and will have to be started with testosterone or estrogen. Also, a characteristic of ONH/SOD is micro genitalia, which means the genitalia is small, early testosterone therapy is helpful.

Many children with ONH/SOD have problems with their hypothalamus gland which controls sleep and appetite and temperature to name a few of it's functions. Some of our kids don't sleep well, (another understatement!) and some kids have problems regulating there temps causing hypo and hyper thermia,and some kids have to be told when they have had enough to eat. Some of the children have or develop seizures and are on medication for them. Some are hypotonic (low muscle tone) at birth, requiring p.t. (physical therapy), o.t. (occupational therapy). Many children with ONH/SOD also have Sensory Integration Disorder, most are tactilely and orally defensive, and some have hypersensitivity to sound. We, as parents, have also noticed obsessive behavior in some of our children. They tend to ask questions over and over even after answered, obsess on the same subject for long periods of time, and become very upset when routine is interfered with. Lots of them also chew on their finger. It is also reported by some parents that their children fall into the autistic spectrum category. Many of our children also have gifted areas particularly in music. Many of the children have incredible memories and have incredible strength. Most of our kids are developmentally delayed either due to lack of vision or neurological problems, or being diagnosed with hypothyroid too late. It is imperative that all children with ONH/SOD be seen by a endocrinologist immediately upon diagnosis with follow ups.

The last and most wonderful characteristic is their contagious laugh!!! and the most wonderful smile you have ever laid eyes on!!!!! We, as parents, treasure every miracle we are allowed to see! We have been truly blessed:)