|Joy's 1st year...
Joy was born on December 28, 1999. I was the most spectacular day of my life. It was a hard labor, but most of that was forgotten the moment that I heard her cry. The sound was so sweet, and healthy. I had no notion of what was in store for us.
I had no idea that my world, my safe uneventful world, was going to forever change. Twelve hours after she was born we noticed that her eyes were rolling back into her head, she had not eaten that much and we were concerned about her so we asked a nurse about her eyes rolling back. The nurse assured us that it was, "a
normal thing that babies do"; Seeing that we were tired she offered to take the baby to the nursery and let us get some rest.
While there a doctor making his rounds noticed the eye movements and that she seemed unresponsive. He called a nurse and revived her. Taking her glucose and temperature he discovered that her glucose was at 17 and her temperature was at 93.5. She was having hypoglycemic seizures. He put her on an IV and then came into our room and told us that he was going to keep her in the hospital for a while so that he could discover what was the cause of this.
After many test he finally decided to do a CT scan. Through that test he discovered that she was missing a piece of her brain the size of a walnut in the right hemisphere. Not being able to tell all he wanted to from this test he decided to do a MRI. With the MRI he diagnosed her as having had a Congenital Stroke while in-utero at about 30-40 days after conception.
Wanting to make sure that Joy got the best of care he decided that it would be best if we took her to Stanford to do more test and to get a second opinion on the MRI. So, at one week old Joy was off to Lucile Packard's Children's Hospital at Stanford.
During the week that she spent at Stanford she received many of the same test and was evaluated by many doctors. Finally, they couldn't find anything new and she was stable that whole week so they let us take her home. At that time it was our understanding that they agreed with the diagnoses of Congenital Stroke, and we were told that we were bringing home a well baby.
Two weeks after we brought her home we went back to Stanford for the results of her genetic testing and received that happy news that they did not find anything. At this point we were pretty happy and relieved that it was all over.
Needless to say we were wrong.At two and a half months we took her to see a Pediatric Ophthalmologist because we were concerned that her eyes were still rolling around and that she hadn't gained any motor control of them yet. At that appointment we were told that she has Optic Nerve Hypoplasia and that we needed to see a Pediatric Endocrinologist to see if she had Optic Nerve Hypoplasia and possibly Septo-Optic Dysplasia.
We discovered shortly after on our visit to a Pediatric Endocrinologist that she did indeed have SOD. It was not until she was 10 months old that we discovered that her congenital stroke was actually unilateral right hemispheric schizencephaly. Not knowing exactly what this meant we started to do a lot of research, only to discover that there is not a lot of information on schizencephaly.
At 11 months after talking to her Neurologist after a Video EEG to
determine whether or not she was having seizures and we were told for a second time that they felt that she had a
|Getting the diagnosis...