Emma was diagnosed with Infantile Spasms when she was 7 months old.
Prior to her diagnosis, Emma was your typical 7-month-old child. She was learning how to sit up on her own, enjoyed every solid food that we gave her, would light up the room with her laugh and smile, and was achieving all of her developmental milestones. We had no clue what it meant for our child to have Infantile Spasms, or what it would mean for her future. We had never heard of Infantile Spasms prior to her diagnosis.
We first noticed the spasms when Emma was about 4 months old; she was waking up from a nap in her car seat when she appeared to be startled. It was such a brief and subtle event that we just thought a noise had awoken her. As the weeks passed, we noticed the movement again. Emma had woken up from a midday nap, when again she appeared to be startled. She had a frightful look in her eyes and then she would slightly tense up, bring her arms close to her body, and cry. The whole sequence lasted for about 5 seconds and then she would stop and appear to be okay. She would calm down, and then, the same sequence would start over. In total, this went on for less than a minute. To be honest, we thought she was waking up from a bad dream, and to show it to her when she was older, we recorded the event. We thought it was a funny movement she did. Little did we know how beneficial that 20 second clip would be.
On October 7th, 2014, two days after having turned 7 months, Emma again did the same jerky movement, as she woke up from a nap. However, this time, something felt wrong; it didn't seem like a normal movement, despite the fact that it had not changed in appearance since we first noticed it. After performing a Google search, we were directed to a YouTube video a mother had posted of her child doing something very similar to what Emma was doing. Her description warned that this was Infantile Spasms and if your child did something similar, she advised to seek medical attention...immediately. Within an hour, we were at her pediatrician, Dr. Talya Wise. After a thorough examination, Emma’s pediatrician told us that she was in good health and did not examine like a child with Infantile Spasms, but if we wanted, she could refer us to a specialist for some further testing. We then presented her with the video of the “spasms”; it was at that moment that she entered her office, called SickKids directly, and put in a referral to the neurology department for an EEG (electroencephalogram) – a test that records the electrical activity of your brain.
Within 36 hours of her initial visit to her pediatrician's office, she had a scheduled EEG at SickKids.
We had no clue what to expect when we arrived at the hospital. It started off with your typical check-in and wait until your name is called except that at SK, nothing is typical. Nothing feels normal. Every case is sad because it deals with children -children who are supposed to be outside playing and having fun instead waiting for a test or surgery. Yet, there we were.
After Emma lost her fight to have her weight and height measured, she was off for her EEG, the first of many that she had since that day. For those of you who don’t know all sides of Emma – she is a fighter, and a little stubborn, so when the nurse attempted to hook up the nodes to her head, it didn’t go as smoothly as anyone would have hoped, however, it was what we expected.
After that test, and a physical assessment, a team of doctors entered the room to inform us that Emma’s EEG displayed a chaotic, and disorganized pattern of brain activity called Hypsarrhythmia. The EEG was what diagnosed her IS. In other ways, like her pediatrician had told us, she did not examine like a child with IS. To this day, we are asked how we knew something was wrong with her. We don't know the answer. Perhaps it was parental instinct, but it was something more too. We were lucky to have noticed the spasms prior to the onset of developmental delay, as it is usually the developmental delay that triggers parents to seek medical advice. Once regression in development happens, the results are irreversible. There's not a day we don't think about how badly things could have ended up for Emma had we continued to think her spasms were an innocent jerky movement, had her pediatrician not taken our concerns seriously, had the team at SickKids not been as amazing and as involved as they were and continue to be, had she not had the EEG.
Following the diagnosis, two things had to happen. 1) Treat the Hypsarrhythmia with medication, with the aim to eliminate it. 2) Find out why she had IS. To say the journey has been easy would be a lie. Our infant was subject to blood tests, urine samples (did you ever think about how they get a urine sample from an infant?), metabolic testing, genetic testing, MRIs, MRGs. She had to be sedated for many of her tests. Despite it all, she was lucky. We still don’t know why she had IS because all her tests have not demonstrated a cause for it. Further, the medication worked and within 6 months, they weaned her off of it.
However, the battle isn't over as Emma was diagnosed with Epilepsy in September 2017. She is subject to more testing and more medications. There is still a lot we don’t know.
Emma is starting school in September, and there are concerns about that. She is speech delayed, a common side effect to IS. She is receiving Speech Therapy and Occupational Therapy in order to maximize her future potential.
It is definitely a challenging time for all of us. Yet, we are now ready to help others who are travelling down a similar path. We don’t want our pain to be in vain.
We love our Emma, the way she is. We wouldn’t change anything about her. Her Epilepsy is a part of her life, but does not define her. In life, we all have our challenges, and this is hers. We love her feistiness, her stubbornness, her cleverness, her love, her ability to be happy through it all.
Prior to her diagnosis, Emma was your typical 7-month-old child. She was learning how to sit up on her own, enjoyed every solid food that we gave her, would light up the room with her laugh and smile, and was achieving all of her developmental milestones. We had no clue what it meant for our child to have Infantile Spasms, or what it would mean for her future. We had never heard of Infantile Spasms prior to her diagnosis.
We first noticed the spasms when Emma was about 4 months old; she was waking up from a nap in her car seat when she appeared to be startled. It was such a brief and subtle event that we just thought a noise had awoken her. As the weeks passed, we noticed the movement again. Emma had woken up from a midday nap, when again she appeared to be startled. She had a frightful look in her eyes and then she would slightly tense up, bring her arms close to her body, and cry. The whole sequence lasted for about 5 seconds and then she would stop and appear to be okay. She would calm down, and then, the same sequence would start over. In total, this went on for less than a minute. To be honest, we thought she was waking up from a bad dream, and to show it to her when she was older, we recorded the event. We thought it was a funny movement she did. Little did we know how beneficial that 20 second clip would be.
On October 7th, 2014, two days after having turned 7 months, Emma again did the same jerky movement, as she woke up from a nap. However, this time, something felt wrong; it didn't seem like a normal movement, despite the fact that it had not changed in appearance since we first noticed it. After performing a Google search, we were directed to a YouTube video a mother had posted of her child doing something very similar to what Emma was doing. Her description warned that this was Infantile Spasms and if your child did something similar, she advised to seek medical attention...immediately. Within an hour, we were at her pediatrician, Dr. Talya Wise. After a thorough examination, Emma’s pediatrician told us that she was in good health and did not examine like a child with Infantile Spasms, but if we wanted, she could refer us to a specialist for some further testing. We then presented her with the video of the “spasms”; it was at that moment that she entered her office, called SickKids directly, and put in a referral to the neurology department for an EEG (electroencephalogram) – a test that records the electrical activity of your brain.
Within 36 hours of her initial visit to her pediatrician's office, she had a scheduled EEG at SickKids.
We had no clue what to expect when we arrived at the hospital. It started off with your typical check-in and wait until your name is called except that at SK, nothing is typical. Nothing feels normal. Every case is sad because it deals with children -children who are supposed to be outside playing and having fun instead waiting for a test or surgery. Yet, there we were.
After Emma lost her fight to have her weight and height measured, she was off for her EEG, the first of many that she had since that day. For those of you who don’t know all sides of Emma – she is a fighter, and a little stubborn, so when the nurse attempted to hook up the nodes to her head, it didn’t go as smoothly as anyone would have hoped, however, it was what we expected.
After that test, and a physical assessment, a team of doctors entered the room to inform us that Emma’s EEG displayed a chaotic, and disorganized pattern of brain activity called Hypsarrhythmia. The EEG was what diagnosed her IS. In other ways, like her pediatrician had told us, she did not examine like a child with IS. To this day, we are asked how we knew something was wrong with her. We don't know the answer. Perhaps it was parental instinct, but it was something more too. We were lucky to have noticed the spasms prior to the onset of developmental delay, as it is usually the developmental delay that triggers parents to seek medical advice. Once regression in development happens, the results are irreversible. There's not a day we don't think about how badly things could have ended up for Emma had we continued to think her spasms were an innocent jerky movement, had her pediatrician not taken our concerns seriously, had the team at SickKids not been as amazing and as involved as they were and continue to be, had she not had the EEG.
Following the diagnosis, two things had to happen. 1) Treat the Hypsarrhythmia with medication, with the aim to eliminate it. 2) Find out why she had IS. To say the journey has been easy would be a lie. Our infant was subject to blood tests, urine samples (did you ever think about how they get a urine sample from an infant?), metabolic testing, genetic testing, MRIs, MRGs. She had to be sedated for many of her tests. Despite it all, she was lucky. We still don’t know why she had IS because all her tests have not demonstrated a cause for it. Further, the medication worked and within 6 months, they weaned her off of it.
However, the battle isn't over as Emma was diagnosed with Epilepsy in September 2017. She is subject to more testing and more medications. There is still a lot we don’t know.
Emma is starting school in September, and there are concerns about that. She is speech delayed, a common side effect to IS. She is receiving Speech Therapy and Occupational Therapy in order to maximize her future potential.
It is definitely a challenging time for all of us. Yet, we are now ready to help others who are travelling down a similar path. We don’t want our pain to be in vain.
We love our Emma, the way she is. We wouldn’t change anything about her. Her Epilepsy is a part of her life, but does not define her. In life, we all have our challenges, and this is hers. We love her feistiness, her stubbornness, her cleverness, her love, her ability to be happy through it all.
