Baby Eve - Stop the Seizures
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On August 31, 2017 our lives were changed forever with the birth of our daughter Evelyn Leigh. We were in awe of our little miracle and felt our family was now complete. Shortly after birth, Evelyn stopped breathing. The nurses assured us that is was merely the stress of the birthing process and this kept our minds at ease. Fifteen hours later Evelyn stopped breathing again and had to be suctioned. Again, the staff assured us this was due to the fact that she was born by Cesarean and the mucus was therefore not squeezed completely out of her lungs as with a vaginal birth. At 30 hours old Evelyn seemed off, she stopped going to breast and her color was pale. We insisted she be taken to the nursery for a check and we followed. Suddenly several nurses were standing over our little baby and we couldn't even see her through the crisscrossed glass that served as a barrier to the nursery. Staff were coming out telling us she could have had a stroke, that she was having convulsions and potential seizures. She was intubated and rushed to Children's Hospital that night.
In route the paramedics administered phenobarbitol, an anti-seizure medication. I received an early discharge so that we could drive to Children's and be with our precious baby. The initial EEG revealed no seizure activity but some abnormal brain discharges and an MRI was ordered. The MRI revealed that Evelyn had been born with a brain abnormality, Focal Cortical Dysplasia, which are a common cause of focal seizures. The neurological team insisted she remain on the phenobarbital in light of this MRI reading and a longer EEG was performed. We were adamant we wanted her on something less sedative and mood altering but with no prevail. In the meantime extensive genetic testing was ordered to find the cause of her brain abnormality. Evelyn then experienced respiratory depression due to the drug that was being administered to her. She was then prescribed another anti-seizure medication, Keppra, which was known to be less sedative. She received another EEG to confirm the effectiveness of the Keppra and would remain on the medication for an undetermined amount of time.
Evelyn's genetic testing revealed an unknown genetic disorder where her cells contain 2 extra marker chromosomes. At the time of fertilization, an extra piece of the genetic coding region of chromosome 15 was present during cell meiosis and then duplicate in all her cells during mitosis (remember Biology 101?). This was thought to have impacted the way the cells lined up in her brain leading to the misfiring of neurons. Evelyn was kept on Keppra the remainder of her stay in the hospital. She did not leave for 46 days due to feeding issues that were a direct result of being intubated for her first seven days of life and her contracting bacterial cellulitis while recovering in the hospital. She had to have a gastronomy tube inserted to be released from the hospital and would essentially outgrow the dose of Keppra.
After being home for 2 months we had concerns to Evelyn's vision. We brought her in to Duke where it was confirmed that she was unresponsive to light. The anatomy of her eye was intact but there was an issue with how the brain was receiving the image. This is known as Cortical Vision Impairment. She was referred for vision therapy. After much research we found that many children suffered some sort of vision impairment as a side effect of this anti-seizure medicine, as is the case with many anti-convulsants. In January we asked neurology to perform another EEG to see if Evelyn needed to stay on the Keppra since it was also contributing to muscle weakness, headaches, and slow progression with physical therapy. At this point we confirmed that none of Evelyn's EEGs showed actual seizure activity but rather misfiring that could potentially lead to full blown seizures. We made the decision to start tapering Evelyn off of the Keppra.
In February Evelyn started showing signs of Infantile Spasms, also known as West Syndrome. This started while still on a low dose of Keppra. Evelyn was taken back to Children's Hospital for a video EEG. At that time is was suggested that she was not experiencing IS and she should start taking an increased dose of Keppra (4 times the original dose). We complied and saw no improvement of her seizure activity. Neurology re-evaluated her EEG and confirmed that she in fact was experiencing moderated infantile spasms weeks later.
West syndrome is known to cause permanent cognitive failure in the brain when left untreated. Evelyn was switched toTopamax which has shown to have some effectiveness at treating IS. After no sign of improvement and worsening of her spasms Evelyn's dose was increased. After three weeks of treatment we faced the hard decision to start steroid treatment. Evelyn remained on the Topamax and was started on a half dose regiment for one week. Her spasms continued to worsen and her dose was then doubled to the max. On day 5 the spasms stopped, two days short of a listing of fail for the treatment. Evelyn slowly tapered off the steroids and was seizure free for 29 days. Twelve days after being completely off steroids Evelyn had a slight seizure. The next day she had another; the following two days she had 2 seizures each day. She is now up to 4-5 seizures a day.
There are many alternative medicines we can try rather than continuing with steroids (which are very dangerous in children). We are on the brink of having a new epileptic prescription medicine available as an alternative that the doctors are waiting on but we have no idea what the criteria will be to receive this new medicine, or whether insurance will even pay for it. Until then we keep trying different treatments, investigating each drug she is prescribed, hoping something will take.
Evelyn's seizures are increasing everyday. She is already developmentally behind from all that her little body has gone through and though she has made great progress, it is a slow progression. If she continues to have an increase in her spasms she will not only be set back in her path to recovery but will suffer from permanent brain damage.
Evelyn receives several therapies a week including physical therapy, vision therapy, and occupational therapy. She has braces for both her hands and feet. It is now evident that we will have to travel extensively to get the help we need with her genetic disorder and neurological damage. We are reaching out to all of our friends and family, PLEASE help us to get the medical treatments she requires. Our baby girl needs your saving grace.
In route the paramedics administered phenobarbitol, an anti-seizure medication. I received an early discharge so that we could drive to Children's and be with our precious baby. The initial EEG revealed no seizure activity but some abnormal brain discharges and an MRI was ordered. The MRI revealed that Evelyn had been born with a brain abnormality, Focal Cortical Dysplasia, which are a common cause of focal seizures. The neurological team insisted she remain on the phenobarbital in light of this MRI reading and a longer EEG was performed. We were adamant we wanted her on something less sedative and mood altering but with no prevail. In the meantime extensive genetic testing was ordered to find the cause of her brain abnormality. Evelyn then experienced respiratory depression due to the drug that was being administered to her. She was then prescribed another anti-seizure medication, Keppra, which was known to be less sedative. She received another EEG to confirm the effectiveness of the Keppra and would remain on the medication for an undetermined amount of time.
Evelyn's genetic testing revealed an unknown genetic disorder where her cells contain 2 extra marker chromosomes. At the time of fertilization, an extra piece of the genetic coding region of chromosome 15 was present during cell meiosis and then duplicate in all her cells during mitosis (remember Biology 101?). This was thought to have impacted the way the cells lined up in her brain leading to the misfiring of neurons. Evelyn was kept on Keppra the remainder of her stay in the hospital. She did not leave for 46 days due to feeding issues that were a direct result of being intubated for her first seven days of life and her contracting bacterial cellulitis while recovering in the hospital. She had to have a gastronomy tube inserted to be released from the hospital and would essentially outgrow the dose of Keppra.
After being home for 2 months we had concerns to Evelyn's vision. We brought her in to Duke where it was confirmed that she was unresponsive to light. The anatomy of her eye was intact but there was an issue with how the brain was receiving the image. This is known as Cortical Vision Impairment. She was referred for vision therapy. After much research we found that many children suffered some sort of vision impairment as a side effect of this anti-seizure medicine, as is the case with many anti-convulsants. In January we asked neurology to perform another EEG to see if Evelyn needed to stay on the Keppra since it was also contributing to muscle weakness, headaches, and slow progression with physical therapy. At this point we confirmed that none of Evelyn's EEGs showed actual seizure activity but rather misfiring that could potentially lead to full blown seizures. We made the decision to start tapering Evelyn off of the Keppra.
In February Evelyn started showing signs of Infantile Spasms, also known as West Syndrome. This started while still on a low dose of Keppra. Evelyn was taken back to Children's Hospital for a video EEG. At that time is was suggested that she was not experiencing IS and she should start taking an increased dose of Keppra (4 times the original dose). We complied and saw no improvement of her seizure activity. Neurology re-evaluated her EEG and confirmed that she in fact was experiencing moderated infantile spasms weeks later.
West syndrome is known to cause permanent cognitive failure in the brain when left untreated. Evelyn was switched toTopamax which has shown to have some effectiveness at treating IS. After no sign of improvement and worsening of her spasms Evelyn's dose was increased. After three weeks of treatment we faced the hard decision to start steroid treatment. Evelyn remained on the Topamax and was started on a half dose regiment for one week. Her spasms continued to worsen and her dose was then doubled to the max. On day 5 the spasms stopped, two days short of a listing of fail for the treatment. Evelyn slowly tapered off the steroids and was seizure free for 29 days. Twelve days after being completely off steroids Evelyn had a slight seizure. The next day she had another; the following two days she had 2 seizures each day. She is now up to 4-5 seizures a day.
There are many alternative medicines we can try rather than continuing with steroids (which are very dangerous in children). We are on the brink of having a new epileptic prescription medicine available as an alternative that the doctors are waiting on but we have no idea what the criteria will be to receive this new medicine, or whether insurance will even pay for it. Until then we keep trying different treatments, investigating each drug she is prescribed, hoping something will take.
Evelyn's seizures are increasing everyday. She is already developmentally behind from all that her little body has gone through and though she has made great progress, it is a slow progression. If she continues to have an increase in her spasms she will not only be set back in her path to recovery but will suffer from permanent brain damage.
Evelyn receives several therapies a week including physical therapy, vision therapy, and occupational therapy. She has braces for both her hands and feet. It is now evident that we will have to travel extensively to get the help we need with her genetic disorder and neurological damage. We are reaching out to all of our friends and family, PLEASE help us to get the medical treatments she requires. Our baby girl needs your saving grace.
Co-organizers (2)
David Lee Thompson
Organizer
Clayton, NC
Jen Guns
Co-organizer