MaryEllen and Kevin were born with
many central nervous system abnormalities. They both were born with

1. Bifrontal Polymicrogyria-
This is a developmental abnormality that shows a spaghetti like
appearance in the frontal parts of their brains. During brain development, there
was an abnormal migration of neurons to the cortex. This can cause mental
retardation and seizures. Because of the complexity of the brain, the degrees of
involvement can be extremely varied. MaryEllen and Kevin are both severely
retarded and have had seizures in the past and are currently well controlled
with their antiseizure medications.

2. Bilateral Optic Nerve
Hypoplasia- This is an underdevelopment of the optic nerve. The optic nerve
normally has over 1 million connections from each eye to the brain. With optic
nerve hypoplasia, the connections to the brain are vastly reduced. There
are varying degrees of ONH and also varying degrees of visual impairment with
this diagnosis. MaryEllen and Kevin are legally blind. As far as we can tell,
both children do have some light perception, but no functional use of their
vision.

3. Bilateral Cataracts-
This is is an opacity or cloudiness of the natural lens of the eye. The
human lens is located behind the pupil and has an important function. It focuses
rays of light into the retina to allow image formation. As the lens is able to
change its shape, it can focus objects at different distances. Its cells are
arranged so that it is transparent, like glass or water. When this arrangement
is disturbed in any way, the transparency is lost and an opacity results. This
results in blurring and blocking of the retinal image. Maryellen and Kevin had
their cataracts removed prior to 3 months of age. They wore contact lenses and
glasses for three years. Most children do have useful vision after
cataract removal surgery. Because of their other eye defects, this was not the
case with MaryEllen and Kevin. After we discontinued use of the contact lenses
and glasses, there was no difference noted with or without their use.

4. Bilateral Microphthalmia-
This is a disorder in which both eyes are abnormally small. Microphthalmia
results from a developmental defect after formation of the optic vesicle. There
is a variable degree of visual impairment.

5. Peripheral Neuropathy-
This occurs when there is damage to the peripheral nerves, the vast
communications network that transmits information from the brain and spinal cord
to every other part of the body. Common symptoms include weakness, numbness, and
paresthesia (abnormal sensations such as burning, tickling, pricking or
tingling), in the arms and legs. MaryEllen and Kevin exhibit unusual
reactions to stimuli. Things that should hurt them, don't, and things that
shouldn't hurt, do. Both children loudly object to blankets at night, and bumps
and bruises usually cause them to laugh.

In addition to these
malformations, Mary Ellen and Kevin also have endocrine system abnormalities.
Their growth curves are below average for height, weight and head circumference.
Neither child can sit unsupported or stand, or walk. Neither child has ever
rolled unassisted. Despite all these handicaps, Mary Ellen and Kevin are very
happy children. They laugh and smile and smirk quite appropriately! Even though
they can't speak, they communicate volumes. They are angels on earth and we are
blessed to be their parents.