Amanda Mom to 3, one with Infantile Spasms and Complex Partial seizures from Tuberous Sclerosis Complex (TSC) and one with epilepsy.
It was a beautiful October morning when we walked into the
hospital to give birth to our baby girl. We entered the hospital a many first
time parents, terrified, excited and huffing and puffing because the pregnant
laboring women had to walk across the hospital to the maternity ward. Her
birthday was interesting; with the housing crisis looming and Daddy working
construction he was beginning to line up new jobs. Nothing like being asked
where certain documents are in the house while you are going through your first
time in labor, breathing in-between contractions and instructing you husband on
how to use the fax machines.
Kelly finally arrived at 6:38 that evening and she was perfect. 10 fingers and toes born with her fist above her head. She was a fighter from day one and we never knew how much that fighting spirit would serve her. She had a fairly normal 6 .5 months slow to sit-up but a wonderful smile and no reason for us to think any differently.
At around 7 months old she started waking up from her naps suddenly and her eyes would roll back into her head repeatedly. Panicked we took a video and brought her to our pediatrician. He promptly informed us that since we could see her eyes rolling back she was still in REM sleep and this was just a phase she would grow out of. While that didn’t sit easy with me, I believed him since he was the “best” in town.
As the months went on Kelly gradually progressed to having these episodes more and more often and now her body was beginning to crunch in half and she would cry in-between. I demanded to see a neurologist and the one that we were referred to was out of the country so we got to see the replacement doctor and I have never felt more hopeless then during that visit. Not only was he 45 minutes late to the first appointment of the day he never answered any of my questions, threw 2 scripts at me on his way out the door and told me to make an appointment for 6 weeks. I left in tears and begged to get an appointment with the best Children’s hospital in the city. Unfortunately while waiting for that appointment Kelly’s spasms progressed to projectile vomiting in-between each crunch and as parents we were scared to death of what would happen and we finally took her to the ER.
It turns out that was the smartest thing we did. The referred us to another Children’s hospital and within 10 days we had a diagnosis –Infantile Spasms and Complex Partial seizures. We were advised to immediately start Kelly on a course of ACTH, an injectable steroid, and we would be able to put this whole thing behind us. We started the injections and an MRI 10 days later confirmed the worst – Tuberous Sclerosis Complex. Those 3 little words cut through us like a knife and our world wasn’t going to be fine anymore.
Not only is Infantile Spasms one of the worst forms of epilepsy, but Tuberous Sclerosis Complex (TSC) is a whole new world in itself. TSC is a genetic disorder that causes tumors to form throughout the body, mainly in the major organs – heart, brain, skin, eyes, kidneys and lungs usually. TSC means that Kelly’s brain is so riddled with tumors that to remove them all would not leave her with any brain tissue. It means that to control TSC is to control tumor growth and ultimately a huge breakthrough for cancer and other major diseases. It means that every year we have to sedate Kelly for an MRI and we hope that we haven’t seen any major tumor growth. It means that she doesn’t always react like she should to typical seizure meds and that we travel 350 miles to make sure that she is seen by the best. And even sometimes the best don’t have all the answers.
Right now Kelly is 4 years old and has come quite a bit farther then anyone has expected her to. She is cognitively around 16 months old. She has 3 signs and a few words, but if you listen hard enough she can get her point across. She teeters on the edge of autism. She is hyperactive and has multiple sensory issues. She loves animals and we take her horseback riding every chance we get. She has a smile that lights up a room and a laugh that is infectious. She has made every person around her, better just by knowing her. She is our little girl, a fighter and we love her.
For more information about Tuberous Sclerosis Complex please contact the TS Alliance www.tsalliance.org
hospital to give birth to our baby girl. We entered the hospital a many first
time parents, terrified, excited and huffing and puffing because the pregnant
laboring women had to walk across the hospital to the maternity ward. Her
birthday was interesting; with the housing crisis looming and Daddy working
construction he was beginning to line up new jobs. Nothing like being asked
where certain documents are in the house while you are going through your first
time in labor, breathing in-between contractions and instructing you husband on
how to use the fax machines.
Kelly finally arrived at 6:38 that evening and she was perfect. 10 fingers and toes born with her fist above her head. She was a fighter from day one and we never knew how much that fighting spirit would serve her. She had a fairly normal 6 .5 months slow to sit-up but a wonderful smile and no reason for us to think any differently.
At around 7 months old she started waking up from her naps suddenly and her eyes would roll back into her head repeatedly. Panicked we took a video and brought her to our pediatrician. He promptly informed us that since we could see her eyes rolling back she was still in REM sleep and this was just a phase she would grow out of. While that didn’t sit easy with me, I believed him since he was the “best” in town.
As the months went on Kelly gradually progressed to having these episodes more and more often and now her body was beginning to crunch in half and she would cry in-between. I demanded to see a neurologist and the one that we were referred to was out of the country so we got to see the replacement doctor and I have never felt more hopeless then during that visit. Not only was he 45 minutes late to the first appointment of the day he never answered any of my questions, threw 2 scripts at me on his way out the door and told me to make an appointment for 6 weeks. I left in tears and begged to get an appointment with the best Children’s hospital in the city. Unfortunately while waiting for that appointment Kelly’s spasms progressed to projectile vomiting in-between each crunch and as parents we were scared to death of what would happen and we finally took her to the ER.
It turns out that was the smartest thing we did. The referred us to another Children’s hospital and within 10 days we had a diagnosis –Infantile Spasms and Complex Partial seizures. We were advised to immediately start Kelly on a course of ACTH, an injectable steroid, and we would be able to put this whole thing behind us. We started the injections and an MRI 10 days later confirmed the worst – Tuberous Sclerosis Complex. Those 3 little words cut through us like a knife and our world wasn’t going to be fine anymore.
Not only is Infantile Spasms one of the worst forms of epilepsy, but Tuberous Sclerosis Complex (TSC) is a whole new world in itself. TSC is a genetic disorder that causes tumors to form throughout the body, mainly in the major organs – heart, brain, skin, eyes, kidneys and lungs usually. TSC means that Kelly’s brain is so riddled with tumors that to remove them all would not leave her with any brain tissue. It means that to control TSC is to control tumor growth and ultimately a huge breakthrough for cancer and other major diseases. It means that every year we have to sedate Kelly for an MRI and we hope that we haven’t seen any major tumor growth. It means that she doesn’t always react like she should to typical seizure meds and that we travel 350 miles to make sure that she is seen by the best. And even sometimes the best don’t have all the answers.
Right now Kelly is 4 years old and has come quite a bit farther then anyone has expected her to. She is cognitively around 16 months old. She has 3 signs and a few words, but if you listen hard enough she can get her point across. She teeters on the edge of autism. She is hyperactive and has multiple sensory issues. She loves animals and we take her horseback riding every chance we get. She has a smile that lights up a room and a laugh that is infectious. She has made every person around her, better just by knowing her. She is our little girl, a fighter and we love her.
For more information about Tuberous Sclerosis Complex please contact the TS Alliance www.tsalliance.org
Machell mom to 3, one with catastrophic epilepsy and progressive encephalopathy.
After a routine vaccine our daughter, Samantha, began having stare seizures. At the time we were not familiar with the many different types of seizures so we didn’t know they were seizures. In August 2003 I went in to check on her around 6:00 am to find her in a tonic clonic status seizure. We don’t know when it started but by the time medical personnel were involved it took them 6 hours to stop the seizure. She was left quadriplegic and non verbal at the age of 21 months.
After many days in the hospital we were finally sent home. Seizures would continue to pop up and I would call the Neurologist. Over a 4 month period seizure med doses were increased and other seizure meds were piggy backed on until we reached the max for her weight and she was taking 4 different seizure meds a day. What was happening is with each med change her seizures were getting more and more frequent. After 4 month she was now having 200 to 300 seizures a day that we could count. I spent many days laying on the floor with her crying feeling so helpless.
At our next visit I told the neuro there must be something else we can do seizure meds just don’t work for Samantha. She then told us about the Ketogenic Diet. She warned us about how much work and commitment it takes and I told her I’d rather try something then spend days crying holding my daughter as she seized all day feeling helpless. In February of 2004 we stayed at Rush University Hospital and initiated the diet. It was stressful and scary getting everything ready at home to begin the diet, but it also felt good to feel like we were finally taking action. After her first day of meals at the hospital her seizures dropped from 200 to 300 down to 50!
What a thrill to see food, items we eat everyday, could get her the relief that seizure meds couldn’t and with little side effects compared to the many side effects seizure meds bring with them. Due to her condition we couldn’t stick with everyday foods she had low tone in her mouth so i switched to a homemade ketogenically balanced shake and fed her by mouth via a syringe. Eventually we went to KetoCal. She had a period of time after about a year or so on the diet that her seizures got worse and more frequent again. With diligent tracking it was quite obvious that her seizure meds and the diet were working against each other. We began to wean meds. After two years she was weaned completely weaned off of all seizure meds and was having an average of 20 seizures a day more with illness. The best part was there were days when it was less and even a few seizure free days!
I wish I could share with you a story of my daughter being completely cured, but for us the Ketogenic Diet was a miracle. It gave our daughter a quality life she wouldn’t have had being Quadriplegic. It improved her overall health and extended her life. Seizure meds would have eventually killed her far too soon. If we had known that her stares were seizures and initiated the diet before the damaging status seizure what would have been her outcome then? All I do know is the ketogenic diet should be option from day one to parents.
After many days in the hospital we were finally sent home. Seizures would continue to pop up and I would call the Neurologist. Over a 4 month period seizure med doses were increased and other seizure meds were piggy backed on until we reached the max for her weight and she was taking 4 different seizure meds a day. What was happening is with each med change her seizures were getting more and more frequent. After 4 month she was now having 200 to 300 seizures a day that we could count. I spent many days laying on the floor with her crying feeling so helpless.
At our next visit I told the neuro there must be something else we can do seizure meds just don’t work for Samantha. She then told us about the Ketogenic Diet. She warned us about how much work and commitment it takes and I told her I’d rather try something then spend days crying holding my daughter as she seized all day feeling helpless. In February of 2004 we stayed at Rush University Hospital and initiated the diet. It was stressful and scary getting everything ready at home to begin the diet, but it also felt good to feel like we were finally taking action. After her first day of meals at the hospital her seizures dropped from 200 to 300 down to 50!
What a thrill to see food, items we eat everyday, could get her the relief that seizure meds couldn’t and with little side effects compared to the many side effects seizure meds bring with them. Due to her condition we couldn’t stick with everyday foods she had low tone in her mouth so i switched to a homemade ketogenically balanced shake and fed her by mouth via a syringe. Eventually we went to KetoCal. She had a period of time after about a year or so on the diet that her seizures got worse and more frequent again. With diligent tracking it was quite obvious that her seizure meds and the diet were working against each other. We began to wean meds. After two years she was weaned completely weaned off of all seizure meds and was having an average of 20 seizures a day more with illness. The best part was there were days when it was less and even a few seizure free days!
I wish I could share with you a story of my daughter being completely cured, but for us the Ketogenic Diet was a miracle. It gave our daughter a quality life she wouldn’t have had being Quadriplegic. It improved her overall health and extended her life. Seizure meds would have eventually killed her far too soon. If we had known that her stares were seizures and initiated the diet before the damaging status seizure what would have been her outcome then? All I do know is the ketogenic diet should be option from day one to parents.