Our Story
Nicolas was born on October 2nd, 2005 to Miguel and Nancy Peruyero. He weighed 8 lbs 6 oz and was as healthy as can be. The hospital where he was born gave us a clean bill of health and two days later we took him home to begin our new lives together as a family of 4.
Nicolas was always as normal as all other kids. He loved to play with his cars, trucks and trains but mostly loved to do anything that got him into trouble just like many little boys. He was a smart kid who always caught on to everything quickly. We never thought anything was wrong with him since he always hit all milestones like crawling, sitting up and walking on time. When he was 1 ½ years old we started to notice that he wasn’t talking at the same level as other kids his age were. After having expressed our concerns to his doctor about his speech not being normal he recommended we take him to speech therapy but assured me that this happens to many kids. So, we took him to speech therapy and after having evaluated him they determined that he was speech delayed. We were not very concerned since it was always said that he was just being lazy although Nicolas has never been a lazy kid. In fact, he has so much energy that he always outlasts us and has always made it difficult for everyone to keep up with him. Nicolas attended several sessions of speech therapy before we decided not to take him anymore. We felt that therapy wasn’t helping him much. After that, his speech started to boom. He was saying many, many more words but the problem was that we were the only ones able to understand him. We always had to translate to other people what he was saying.
A few months before Nicolas’ third birthday we saw him fall a few times and while on the ground his legs would shake. This happened a few times. Some weeks after that we were in the car and Nicolas fell asleep in his car seat. All of a sudden he opened his eyes but didn’t make a sound and was unresponsive. We were rushing to the emergency room when he came to and seemed to be fine. This never happened again so we just didn’t think much of it. Then, a few weeks before he turned 3 Nicolas started falling for no reason. He would take a few steps and fall as if he was tripping over something and always hitting his head. We also noticed that his arms would tremble whenever he tried to play with his toy cars. We took him to his doctor who ordered an MRI and an EEG. Both came back abnormal. The MRI showed cerebral and cerebellar atrophy and the EEG showed that he was having seizures. At that point, we were referred to a neurologist. After having examined Nicolas and reviewing the MRI and EEG results he determined that Nicolas was ataxic (ataxia is the loss of the ability to coordinate muscular movement) and wanted to run several blood tests to rule out ataxia and also a video EEG to know for sure the type of seizures he was having.
The blood work all came back normal and the EEG showed he was having many myoclonic seizures. He prescribed medication to control the seizures and we thought Nicolas was just epileptic and this was something we would have to deal with. After all, this was not as bad as we thought it would be.
Nicolas’ seizures wouldn’t stop. Every single day he was having multiple seizures, he started having tremors, started having difficulty walking, often falling to the ground. After failing many seizure medications we decided to see another neurologist. This time we chose one that specializes in epilepsy. He prescribed some medications that definitely lessened the severity and amount of seizures but he was still concerned that these seizures were not completely under control. He referred us to a geneticist because he wanted to make sure there wasn’t an underlying cause for these seizures. The geneticist ran an exhausting amount of tests and another video EEG. When he was released from the hospital after the EEG they told us that he was having minimal seizures but now they have to figure out why he was having these odd movements that we thought were seizures. They also told us they would call us with results of the tests they ran that same day.
On August 3rd 2009, I received the dreadful call. The doctor that called told me they found the reason for Nicolas’ seizures. All the tests came back normal except for one. The one that confirmed that Nicolas has Late Infantile Neuronal Ceroid Lipofuscinosis. A disease without any treatment or cure. After almost a year fighting so hard to find the cause of his seizures we were not prepared to hear that our son has a disease that will make him suffer from worse seizures, make him blind, unable to walk or talk and then take his life. Total devastation has hit our family. Nothing will ever be the same.
Some hope in a time of so much darkness
It has been a rough road since Nicolas was diagnosed. Our lives have been turned upside down but we will never give up on fighting for Nicolas and all other children with this horrible disease. Currently, there is no treatment or cure for Batten’s disease but we do have hope that researchers will find one before it is too late. Batten’s disease is very rare and researchers have a difficult time getting the funding they need. They need the help and support from all of us to continue working on the cure. Please donate to our cause. We will be forever grateful from the bottom of our hearts.
Nicolas was always as normal as all other kids. He loved to play with his cars, trucks and trains but mostly loved to do anything that got him into trouble just like many little boys. He was a smart kid who always caught on to everything quickly. We never thought anything was wrong with him since he always hit all milestones like crawling, sitting up and walking on time. When he was 1 ½ years old we started to notice that he wasn’t talking at the same level as other kids his age were. After having expressed our concerns to his doctor about his speech not being normal he recommended we take him to speech therapy but assured me that this happens to many kids. So, we took him to speech therapy and after having evaluated him they determined that he was speech delayed. We were not very concerned since it was always said that he was just being lazy although Nicolas has never been a lazy kid. In fact, he has so much energy that he always outlasts us and has always made it difficult for everyone to keep up with him. Nicolas attended several sessions of speech therapy before we decided not to take him anymore. We felt that therapy wasn’t helping him much. After that, his speech started to boom. He was saying many, many more words but the problem was that we were the only ones able to understand him. We always had to translate to other people what he was saying.
A few months before Nicolas’ third birthday we saw him fall a few times and while on the ground his legs would shake. This happened a few times. Some weeks after that we were in the car and Nicolas fell asleep in his car seat. All of a sudden he opened his eyes but didn’t make a sound and was unresponsive. We were rushing to the emergency room when he came to and seemed to be fine. This never happened again so we just didn’t think much of it. Then, a few weeks before he turned 3 Nicolas started falling for no reason. He would take a few steps and fall as if he was tripping over something and always hitting his head. We also noticed that his arms would tremble whenever he tried to play with his toy cars. We took him to his doctor who ordered an MRI and an EEG. Both came back abnormal. The MRI showed cerebral and cerebellar atrophy and the EEG showed that he was having seizures. At that point, we were referred to a neurologist. After having examined Nicolas and reviewing the MRI and EEG results he determined that Nicolas was ataxic (ataxia is the loss of the ability to coordinate muscular movement) and wanted to run several blood tests to rule out ataxia and also a video EEG to know for sure the type of seizures he was having.
The blood work all came back normal and the EEG showed he was having many myoclonic seizures. He prescribed medication to control the seizures and we thought Nicolas was just epileptic and this was something we would have to deal with. After all, this was not as bad as we thought it would be.
Nicolas’ seizures wouldn’t stop. Every single day he was having multiple seizures, he started having tremors, started having difficulty walking, often falling to the ground. After failing many seizure medications we decided to see another neurologist. This time we chose one that specializes in epilepsy. He prescribed some medications that definitely lessened the severity and amount of seizures but he was still concerned that these seizures were not completely under control. He referred us to a geneticist because he wanted to make sure there wasn’t an underlying cause for these seizures. The geneticist ran an exhausting amount of tests and another video EEG. When he was released from the hospital after the EEG they told us that he was having minimal seizures but now they have to figure out why he was having these odd movements that we thought were seizures. They also told us they would call us with results of the tests they ran that same day.
On August 3rd 2009, I received the dreadful call. The doctor that called told me they found the reason for Nicolas’ seizures. All the tests came back normal except for one. The one that confirmed that Nicolas has Late Infantile Neuronal Ceroid Lipofuscinosis. A disease without any treatment or cure. After almost a year fighting so hard to find the cause of his seizures we were not prepared to hear that our son has a disease that will make him suffer from worse seizures, make him blind, unable to walk or talk and then take his life. Total devastation has hit our family. Nothing will ever be the same.
Some hope in a time of so much darkness
It has been a rough road since Nicolas was diagnosed. Our lives have been turned upside down but we will never give up on fighting for Nicolas and all other children with this horrible disease. Currently, there is no treatment or cure for Batten’s disease but we do have hope that researchers will find one before it is too late. Batten’s disease is very rare and researchers have a difficult time getting the funding they need. They need the help and support from all of us to continue working on the cure. Please donate to our cause. We will be forever grateful from the bottom of our hearts.