Infantile Spasms Awareness
I dedicate this section to spread needed awareness, to a rare condition called infantile spasms (IS).
My son Taylor Kane Jones, was diagnosed with idiopathic infantile spasms around 7 months old. There were no warning signs, no sickness, or fever, anything. We were completely caught off guard, having no knowledge such a condition even existed.
When first noticed, it appeared as an odd jerk type motion, which lifted the arms. There were no signs of problems of any kind. Over the next couple days, we began to see this sudden jerking motion more. There was no pattern, and as soon as it would appear, it would be gone. We had began to look into different possibilities on the internet, at first sight of this. The instant research was the key in the early realization, that we needed to seek someone who knew what this was.
One day the spasms wasn't as hard to catch, and appeared to be occurring more often than had before. The same split second jerk, was then followed again, and again in a cluster pattern. His mother loaded Taylor up, as well as a few videos she had caught of the jerking motions, and went to a local hospital to find out anything she could. It was in this trip, that all of our lives changed. Upon arrival, she was trying to explain these events, but without ability to give a reason or possible cause they were not understanding her explanations, as she showed the video to the doctor, the response was,"what about that doesnt look like a normal action of a 6 month old." As she began to leave, feeling we were all crazy, the jerking motion started, and continued in the repetitive cluster. His mother called the doctor and once seeing the occurrence, they had a very different opinion. They did some minor test, but still, sent them home unsure of anything.
They had not been home 10 minutes, as the clusters began again, as she explained of their dismissal of importance, we both became very uneasy. By this point, we felt certain, that we were dealing with a rare occurrence, that even doctors knew very little about, As he slipped into another cluster, we needed no further convincing, and was immediately on the phone with Our Lady of the Lake Childrens Hospital, in Baton Rouge, LA. Even after being dismissed less than a hour prior, we made the four hour trip, as the feelings of helplessness had started to rise.
Among our arrival, our concerns turned out to be right, and was given the (IS) diagnosis. We were constantly surrounded by neurologists, and neurosurgeons, as this is the moment of realization of how rare, this truly is. After a variety of scans, and tests on our almost 7 month old baby boy, we were informed that the spasms were of a idiopathic nature, which is the technical term for "unknown." As it is the rarest of diagnosis within this rare condition. (IS) is diagnosed about 3000 times a year, on a global scale, as the idiopathic diagnosis makes up only 15% of that small number. This diagnosis however, holds the best possibilities for a recovery consisting of developmental delays. As most (IS) diagnosis, the brain stops all developmental growth, and if left unattended, may not have the ability to rssume this function.
His brain has not altered its growth, although there has been a developmental delay, which he is behind the normal expectations, but, it has been found this due to a type 2 deletion of the first chromosome, which is a genetic occurrence, that is considered an anomaly. Some cases can be passed through a hereditary passage, but most occur in the natural development, as the brain had an unknown issue, and it was deleted as the best option through a self preserving manner.
The fight is still going, as it has taken a toll on all of our lives. The stress and frustration of not knowing, and feelings of absolute helplessness, to help your child, is something no family should be forced to face.