Sophie was born on May 31st 2008. She weighed 8lbs 2ozs and had 9’s for her apgar scores. She was often commented on as being a petite featured, little, doll with pretty eyes. Little did we know her vision would be one of the first signals something was amiss.
At around 2 ½ months of age it was noticed she was not tracking. She did not look when I walked into a room, and she did not smile when my face was before hers. All very hard as these are a mothers “firsts” in her bond with her child. She would go to anyone. It broke my heart.
At around 4 months of age her “morrow effect” type reflexes were noted as abnormal as she in my mind should no longer have been doing those. This could not be considered abnormal yet since the possibility for the “startle reflex” still existed. Her vision had become even more worrisome at this point.
At 6 months of age, she went for her well baby. We were also getting family flu shots so it was quite hectic that day. I did not get all the answers I wanted so back I went days later. I had her pediatrician look more closely at her eyes and development. She too, at this point began to have suspicions that something was wrong. She also noted no dilation while the overhead light was off and another light was shown in her eyes. So we were referred to the ophthalmologist.
At the ophthalmologist’s we found out she had Optic Nerve Hypoplasia. It was presented as a visual impairment that occurred because the optic nerve which normally has 100 million nerves connecting from the eye to the brain was less some unknown number. We went home thankful she was not blind as we feared and instead was placed in the mild range. We were also told she could gain back vision as the brain developed. It could take 6 months or more it was anyone’s guess. So we thought she would be the gal with the “strong contacts” and breathed a sigh of relief. We were also referred for an MRI. at this point and that came back normal. Not so bad, really. We were then referred to the Neurologist as a precaution for the “morrow effect” type behaviors. Few concerns were noted and we were sent home to come back in six months. However, an EEG. was called for “just in case” of seizure activity. We were also referred to genetics and an endocrinologist. She had blood work drawn for a chromosome study and hormone level baseline. Since they were relatively uneventful specialist visits I will not dwell there. Then came the time for her EEG. We arrived at the hospital not knowing what to expect. We waited in the sleep center, and after a few minutes they took her back and marked up her head with red X’s, put glue on her head, and stuck electrodes all over her head. She was swaddled up so she would not fight while they were doing this. We concluded that test, and went home mentally exhausted. How much more? Little did we know.
I called and called “Neuro” leaving message after message for the results. I was told the typical turnaround was 48 hours. I was now on the seventh day when the phone rang and a resident told me she would have contacted us sooner if the results were abnormal. She was calling the test normal. I was very frustrated as the neurophysiology report concluded it was not normal as they could not rule out sucking artifact. If you could not rule out the abnormality between a pacifier and a seizure (and that is what she was being tested for) how could you call it normal? I later sent an email to the resident and asked her to send it to her attending and have him read it, and tell me, if with all certainty he could read it as normal. I will never forget his first line back. “This is not normal”.
I had their attention and now we went back for an ambulatory EEG. She was hooked back up with all those electrodes, but this time they used stronger glue that takes a nail polish remover type solvent to get it off. We then brought her back home with her EEG equipment in a little backpack and her head wrapped up like a “swammy”. (We have used humor all along and it has saved our sanity.) My two year old swore she stole her backpack and immediately tugged to get it back. After we found hers I was on guard for 2 days and never let an eye waver off her. Very draining. We went back and had the electrodes removed two days later after my mother viewed a spasm or “event”.
I emailed in the meantime to tell the attending that I saw an article that looked “eerily like Soph”. It was an article on infantile spasms. The article scared me to death. He emailed back and told me he did not see the characteristic hypsarrhythmia pattern on her EEG that went with that condition. Her full EEG results came the next day from the attending and it showed spikes in her left occipital region but nothing consistent with infantile seizures or any kind for that matter. The attending then asked to see a video of her. It arrived two days later on his desk. He called that afternoon immediately after its viewing. He told me he was “convinced” my Sophie had infantile spasms. It was a bittersweet thing to hear from his mouth. In one hand she could now receive treatment for her epileptic condition, on the other hand, she may be mentally delayed for life.
All evidence points to early intervention being a key part of the best prognosis. I mourned the time lost to the search, when she could have had treatment. We were admitted on “emergency admittance” two days later. We arrived only to find a bed not available for an hour. I respectfully disputed the fact that they should not call families to the hospital if the beds are not ready as well as the lobby is not a place for sick children. Ever hear of Staph infections??? Then I asked if we would get hooked up that night. They said they did not know it was a 50/50 chance. I did not want to pay a very costly overnight at a hospital on the chance she would get treatment that night. So the nurse in a whispering “side of the mouth” kind of way said we would be a “roll over”. This meant we would receive priority for a bed the next day and they would call around 2:30 pm we were told. She showed us the discharge schedule for the next day and we went home confident of a bed. After hearing nothing the following day, I called the hospital to ask why we were not called. She said there were NO beds available. I told her we were assured there would be a bed today. Also that my daughter had infantile spasms and at this point she was going untreated and it was on her conscience!! I hung up the phone and cried my eyes out as there did not seem to be ONE BIT of compassion in that women’s voice for my child or self and I was so very tired of fighting. Didn’t anyone care??? I received a call back 25 minutes later. A bed had “magically” appeared and we could check in and there was a 99% chance of hook-up if we could be there before 8pm. We got their after 6pm. We stayed 3 nights with me by her side constantly except for showers, food, and bathroom visits. I thought I was going to develop a neurological condition.
We were released on that third day with no spasm. We got her unhooked and took her down to the lobby heading for “home sweet home”. She had a spasm in the lobby while David was driving around to pick us up. I watched for ten minutes and thinking how powerless I felt in that moment. I had become hopeful after 3 days of no spasms and now they felt dashed. We would start the B6 therapy and then we would give a week maximum. If we did not see improvement we would use Zonegran. I am at this moment waiting on her prescription. My heart hurts watching each spasm knowing there is medication and it is waiting for her in the pharmacy.
Afterword: Despite all that we have been through. We have had some ups and downs but never stayed down. We do not believe that God makes mistakes. Our lives were richer and more blessed the day she joined us. We have already seen some blessings come from this tough time. We look forward to what the next chapter holds for us as live each day in that day. We will continue to keep you posted!
