Jasper was born in Utrecht, the Netherlands, in January 2005. He is the little brother of Jeroen who was born in January 2003. For the first three years of his life, Jasper was a normal developing boy, a real explorer, with no indication of any problem except for some speech delay. In October 2007, we moved the family from the Netherlands to Chicago to start a promising future in the US. Little did we know what was about to happen or that our lives would be turned completely upside down.
A few months after he turned three, Jasper had his first seizure and then, in the same week, three more. After the second seizure, we went to Children’s Memorial Hospital and were told that our son had epilepsy. In the months following, we tried various anti-convulsant drugs, but none seemed to work. The seizures kept coming back and became even more severe. Of course, in addition to the drugs, many evaluations and tests were performed to gain further insight into the seizures; an MRI, overnight EEG, Pet Scan, various genetic tests, the works. In the meantime, we read everything we could get our hands on about epilepsy to educate ourselves about our options and alternatives.
Jasper’s character also started to change. We blamed the anti-convulsant drugs (side effects), but then, in the Summer of 2008, Jasper was evaluated by a neuropsychiatric team and was given the diagnosis of autism. Now we had another challenge on top of the epilepsy. To best help our son, we educated ourselves about autism, found a wonderful ’special needs’ school, Black Bear Academy in Chicago and augmented this with occupational therapy and speech therapy. In addition, we tried the various diets and vitamin supplements recommended to treat both the epilepsy and the autism. Finally some good results–the Modified Atkins Diet reduced the frequency of Jasper’s seizures and made them much less severe. For the first time in a year, we allowed ourselves to feel optimistic.
Unfortunately, the optimism was short-lived. In February 2009, soon after his 4th birthday, Jasper started having problems walking by himself–he kept falling. Again, we assumed it was the medication, that the toxicity caused by too high a dose was responsible, as it is known to cause tremors. But reducing the dosages did not help. His walking and balance was not improving at all.
We went back to Children’s Memorial again where Jasper was admitted for another aggressive evaluation. At this point, our neurologist was very concerned about this ataxia. After an overnight EEG, a MRI, a spinal tab, a thorough eye examination and many, many blood tests, Jasper was diagnosed on March 4, 2009 with Late Infantile NCL (Neuronal Ceroid Lipofuscinoses). We already suspected that something was wrong and were hoping for a clear diagnosis with a name–but not this one! Within a year, we went from a healthy son with some speech delay, to a son with epilepsy, to a son with epilepsy and autism to this devastating disease and prognosis.
Our family is devastated, but we are also emboldened. As we had with the epilepsy and the autism, we are approaching this with the attitude of what can be done, not self-pity. We are dedicated to educating ourselves and others about this deadly disease and are committed to exploring each and every alternative that offers hope to stabilizing and at some point, curing Jasper and all children like him who are afflicted with Batten/LINCL.