December 6, 2013. This was the happiest day of our lives. Our beautiful daughter Veda Wynn was born at 5 pounds 2 ounces. She was born healthy with no complications and was sent home from the hospital with us two days later. From day one we knew she was special. It could've been the same feeling anyone feels when taking their first child home from the hospital, or it could've been because Veda was put here on this Earth to teach us, and the world a lesson.
Fast forward a year......
Veda started to stare off into space. Like any first time parents, we panicked. What could it be? Is this normal? Why is she doing this so frequently? We rushed her to the ER because we didnt think it was something to mess around with and the soonest she could get in to see a neurologist was 4 weeks. We felt that it was an urgent matter that needed immediate attention. After waiting in the ER for four hours we were taken back. They gave Veda an IV and ran a couple of blood tests and then admitted us. We were in the hospital for three days. Veda underwent so many tests to see what could be wrong. She had an EEG, MRI, more blood work etc... This was heart breaking for us and we wanted answers.
The neuro teams first thought was Glut1 Deficiency. Never heard of it? Neither had we! At that very moment we realized that whatever was going on with Veda was very serious. The neuroligist who spoke to us was so certain that Glut1 Deficiency was the answer that he started to discuss treatment options and what we should expect for Veda's future. We were numb...he then backtracked and said a lumbar puncture could rule this in or out.. So, wait a minute, "You are saying she has this but you aren't positive?" we asked. He said yes because of the EEG and how many atypical absence seizures ( staring spells) she was having. Together we pieced together that conversation as we both found ourselves so lost that neither of us could quite comprehend what this man was telling us. In that moment, it felt like our hearts had been ripped out of our bodies.
Glut1 deficiency is a very rare syndrome that only affects approximately 500 known patients in the U.S. It is a genetic mutation that causes the brain to be starved of glucose and in turn doesn't allow the brain to function properly. Seizures are the main ailement associated with Glut1 Deficiency. When researching and asking questions about Glut1, we were devastated! This can't be happening!
They did her lumbar puncture the next day where she had to be put under. We waited patiently in fear that our daughter had this. The doctor along with 5 other doctors came in with long looks on their faces. "Oh boy, this is it!" the results are in.... and its NEGATIVE! You can imagine our relief. We ruled out one of the worst possible case scenarios.
We took Veda home the next day with no answers but hope that she would outgrow it or medicine could control her seizures. At this point she was having 100's of seizures a day. We tried Ethosuximide and Topamax which didn't help her seizures but just made her worse. She was on Topamax during the summer, and one of the main side effects is that you cannot sweat. She became a bright red tomato even riding in the car to the grocery store. We couldn't live in such a hot climate and continue this med because the outcome could be devastating. We sought out a second opinion. That doctor wanted to put her on Banzel (a newer experimental drug) that usually treats Lennox Gastaut Syndrome (LGS). She was convinced Veda in fact had LGS. This wasn't much better of a diagnosis. LGS is a form of childhood epilepsy that is hard to control with antiepiletic drugs and can cause an array of short term and long term problems. Characteristics include global delays, chance of SUDEP (sudden unexplained death in epilepsy patients) movement problems, problems with speech and coordination and potential hospitalization.
We left that neurologist with the same gut wrenching feeling that we had when all of this started. No answers and what seemed to be no hope for Veda's future.
Fast forward three months... After what seemed to be 1000's of hours of our own research we discovered Charlotte's Web...Yes, medical marijuana. It had helped children with hard to treat forms of epilepsy. This was our answer, this was our hope! No side effects and only positive responses from the few families that had tried it. We are fortunate enough to live in a state where medical marijuana is legal.
Charlotte's web is an oil derived from a hemp plant that doesn't have any psychoactive effects. It only has .003% THC ( the psychoactive component in marijuana) and is very high in CBD. It was created by the Stanley Brothers after treating a little girl named Charlotte Figi who was given a grim prognosis with no hope left. She had Dravet Syndrome and had exhausted every option to help her. Her parents are religious and her father is in the military, they thought it was a crazy idea but they had nothing to lose as Charlotte had exhausted all other possible treatment options with no relief. Within minutes of taking the CBD oil Charlotte had 100% seizure relief. Nothing short of a miracle as she was hospitalized frequently and was in a wheelchair before this. She was going to be placed in hospice a week later to help ease her impending death. She also wore a helmet to prevent her from injuring herself from the seizures that took a toll on her everyday. Today, along with many other pediactric epilepsy patients, Charlotte is thriving because she was given CBD oil.
Veda began taking Charlotte's Web in November of 2015. It showed promise in controlling the more debilitating seizures. With any "drug" you have to play with the dosaging to get to the "sweet spot" they call it. So far Veda has had some relief but not complete seizure freedom. Charlotte's web was doing a good job in controlling the myoclonic jerks and tonic and atonic seizures but not her absence seizures. To this day, everyday Veda has thousands of seizures. Her last 48 hour EEG showed 2000+ seizures in that amount of time. She doesn't even have relief in her sleep. This is taking a toll on her development and a toll on our hearts daily.
The EEG that showed 2000+ seizures was taken in late November of 2015. After a long couple of days the electrodes were removed and a neurologist came in to see us. Veda was officially diagnosed with Doose Syndrome. To us, this news was somewhat of a relief because there was a good chance of her outgrowing the sydrome. We could breath a sigh of relief, but still not let our guard down as Doose Syndrome is still a tough battle. Like Glut1, LGS, and Dravet Syndrome, Doose is resistant to anti-epileptic drugs. For this reason we continued to search high and low for natural options that would help her.
We came across a ray of hope; a scientist with a PHD, who is also a neurologist that specializes in rare brain disorders and has a multitude of acheivements behind his belt. His name is Dr. Juan Pascual and what was most intriguing to us is that he found that castor bean oil could help control seizures in children with hard to treat forms of epilepsy. Most notabely, he works closely with Glut1 Deficiency patients. His research and treatment options worked towards replacing a very harsh diet that is 90% fat and10% carbohydrates, known at the Ketogenic Diet. The reason we took such a huge interest in this doctor's work is that the Keto diet looked to be one of the only options for Veda to potentialy have seizure control. This is a very difficult diet to implement and can create kidney stones, poor bone growth and the long term effects on the body are unknown. This is our only option for Veda other than medical cannabis. As you can imagine literally eating sticks of butter (essentially one of the main food options on the Keto Diet) wouldn't sound appealing and would have the potential to make you feel sick on a day to day basis. We don't want to put Veda on this diet but we may have no choice.
In the mean time...
Another test that could potentially shed some light on Veda's condition is Genetic Testing. We were told that Genetic Testing could help us determine the case of her condition, a good treatment option, whether or not we would have another child with the same condition and a few other things. We had to get this approved through insurance as it is a very expensive test and it took about 6 months just for approval. Finally, in January 2016 after about a month after Veda had her blood drawn for Genetic Testing, we had the results.
Veda's neurologist called us and briefly explained that Veda has two gene mutations...
SLC2A1 Gene Mutation. The gene that provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). Or as we interpreted it, @#*&%^@&(! Veda has Glut1 Deficiency Syndrome. Her neurologist explained to us that this discovery does not necessarily mean that she has Glut1, but we have learned that it is the main factor in diagnosing a patient with Glut1...Do gene's lie? You can imagine how lost we are.
So here we are...
Our best hope for Veda to live a normal life, in our opinion is to go see Dr. Pascual (remeber him? the uber qualified Doctor who works with Glut1 patients) in Dallas, TX at UT Southwestern. We begged and pleaded for his office to see us and they finally set up an appointment after months of calling. Now, with her genetic testing results back we can take them to him in March and HOPE AND PRAY that he can help her.
Taking Veda to Dallas has no certainties. It does however provide the best care and treatment Veda can receive. Being that only [phone redacted] people now have Glut1 there isn't much knowledge on it. Dr. Pascual made this his life's work. He is our hope and our potential miracle for Veda to have relief from this debilitating disease. Nobody deserves to go through what she does day to day. It takes a toll on her and on us.
We don't want to ask for sympathy because our beautiful angel chose us as her parents, and we wouldn't change that for the world. We have had many people ask how they can help and at this time with the financial uncertainty we face, a small donation towards Veda's care would be greatly helpful. In order for Dr. Pascual to continue his research as well, and we would like to donate to the rare brain disorders foundation he created. Our hope is to find a CURE for Veda and everyone facing a rare brain disorder. Thank you!
The Salazar Family
Fast forward a year......
Veda started to stare off into space. Like any first time parents, we panicked. What could it be? Is this normal? Why is she doing this so frequently? We rushed her to the ER because we didnt think it was something to mess around with and the soonest she could get in to see a neurologist was 4 weeks. We felt that it was an urgent matter that needed immediate attention. After waiting in the ER for four hours we were taken back. They gave Veda an IV and ran a couple of blood tests and then admitted us. We were in the hospital for three days. Veda underwent so many tests to see what could be wrong. She had an EEG, MRI, more blood work etc... This was heart breaking for us and we wanted answers.
The neuro teams first thought was Glut1 Deficiency. Never heard of it? Neither had we! At that very moment we realized that whatever was going on with Veda was very serious. The neuroligist who spoke to us was so certain that Glut1 Deficiency was the answer that he started to discuss treatment options and what we should expect for Veda's future. We were numb...he then backtracked and said a lumbar puncture could rule this in or out.. So, wait a minute, "You are saying she has this but you aren't positive?" we asked. He said yes because of the EEG and how many atypical absence seizures ( staring spells) she was having. Together we pieced together that conversation as we both found ourselves so lost that neither of us could quite comprehend what this man was telling us. In that moment, it felt like our hearts had been ripped out of our bodies.
Glut1 deficiency is a very rare syndrome that only affects approximately 500 known patients in the U.S. It is a genetic mutation that causes the brain to be starved of glucose and in turn doesn't allow the brain to function properly. Seizures are the main ailement associated with Glut1 Deficiency. When researching and asking questions about Glut1, we were devastated! This can't be happening!
They did her lumbar puncture the next day where she had to be put under. We waited patiently in fear that our daughter had this. The doctor along with 5 other doctors came in with long looks on their faces. "Oh boy, this is it!" the results are in.... and its NEGATIVE! You can imagine our relief. We ruled out one of the worst possible case scenarios.
We took Veda home the next day with no answers but hope that she would outgrow it or medicine could control her seizures. At this point she was having 100's of seizures a day. We tried Ethosuximide and Topamax which didn't help her seizures but just made her worse. She was on Topamax during the summer, and one of the main side effects is that you cannot sweat. She became a bright red tomato even riding in the car to the grocery store. We couldn't live in such a hot climate and continue this med because the outcome could be devastating. We sought out a second opinion. That doctor wanted to put her on Banzel (a newer experimental drug) that usually treats Lennox Gastaut Syndrome (LGS). She was convinced Veda in fact had LGS. This wasn't much better of a diagnosis. LGS is a form of childhood epilepsy that is hard to control with antiepiletic drugs and can cause an array of short term and long term problems. Characteristics include global delays, chance of SUDEP (sudden unexplained death in epilepsy patients) movement problems, problems with speech and coordination and potential hospitalization.
We left that neurologist with the same gut wrenching feeling that we had when all of this started. No answers and what seemed to be no hope for Veda's future.
Fast forward three months... After what seemed to be 1000's of hours of our own research we discovered Charlotte's Web...Yes, medical marijuana. It had helped children with hard to treat forms of epilepsy. This was our answer, this was our hope! No side effects and only positive responses from the few families that had tried it. We are fortunate enough to live in a state where medical marijuana is legal.
Charlotte's web is an oil derived from a hemp plant that doesn't have any psychoactive effects. It only has .003% THC ( the psychoactive component in marijuana) and is very high in CBD. It was created by the Stanley Brothers after treating a little girl named Charlotte Figi who was given a grim prognosis with no hope left. She had Dravet Syndrome and had exhausted every option to help her. Her parents are religious and her father is in the military, they thought it was a crazy idea but they had nothing to lose as Charlotte had exhausted all other possible treatment options with no relief. Within minutes of taking the CBD oil Charlotte had 100% seizure relief. Nothing short of a miracle as she was hospitalized frequently and was in a wheelchair before this. She was going to be placed in hospice a week later to help ease her impending death. She also wore a helmet to prevent her from injuring herself from the seizures that took a toll on her everyday. Today, along with many other pediactric epilepsy patients, Charlotte is thriving because she was given CBD oil.
Veda began taking Charlotte's Web in November of 2015. It showed promise in controlling the more debilitating seizures. With any "drug" you have to play with the dosaging to get to the "sweet spot" they call it. So far Veda has had some relief but not complete seizure freedom. Charlotte's web was doing a good job in controlling the myoclonic jerks and tonic and atonic seizures but not her absence seizures. To this day, everyday Veda has thousands of seizures. Her last 48 hour EEG showed 2000+ seizures in that amount of time. She doesn't even have relief in her sleep. This is taking a toll on her development and a toll on our hearts daily.
The EEG that showed 2000+ seizures was taken in late November of 2015. After a long couple of days the electrodes were removed and a neurologist came in to see us. Veda was officially diagnosed with Doose Syndrome. To us, this news was somewhat of a relief because there was a good chance of her outgrowing the sydrome. We could breath a sigh of relief, but still not let our guard down as Doose Syndrome is still a tough battle. Like Glut1, LGS, and Dravet Syndrome, Doose is resistant to anti-epileptic drugs. For this reason we continued to search high and low for natural options that would help her.
We came across a ray of hope; a scientist with a PHD, who is also a neurologist that specializes in rare brain disorders and has a multitude of acheivements behind his belt. His name is Dr. Juan Pascual and what was most intriguing to us is that he found that castor bean oil could help control seizures in children with hard to treat forms of epilepsy. Most notabely, he works closely with Glut1 Deficiency patients. His research and treatment options worked towards replacing a very harsh diet that is 90% fat and10% carbohydrates, known at the Ketogenic Diet. The reason we took such a huge interest in this doctor's work is that the Keto diet looked to be one of the only options for Veda to potentialy have seizure control. This is a very difficult diet to implement and can create kidney stones, poor bone growth and the long term effects on the body are unknown. This is our only option for Veda other than medical cannabis. As you can imagine literally eating sticks of butter (essentially one of the main food options on the Keto Diet) wouldn't sound appealing and would have the potential to make you feel sick on a day to day basis. We don't want to put Veda on this diet but we may have no choice.
In the mean time...
Another test that could potentially shed some light on Veda's condition is Genetic Testing. We were told that Genetic Testing could help us determine the case of her condition, a good treatment option, whether or not we would have another child with the same condition and a few other things. We had to get this approved through insurance as it is a very expensive test and it took about 6 months just for approval. Finally, in January 2016 after about a month after Veda had her blood drawn for Genetic Testing, we had the results.
Veda's neurologist called us and briefly explained that Veda has two gene mutations...
SLC2A1 Gene Mutation. The gene that provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). Or as we interpreted it, @#*&%^@&(! Veda has Glut1 Deficiency Syndrome. Her neurologist explained to us that this discovery does not necessarily mean that she has Glut1, but we have learned that it is the main factor in diagnosing a patient with Glut1...Do gene's lie? You can imagine how lost we are.
So here we are...
Our best hope for Veda to live a normal life, in our opinion is to go see Dr. Pascual (remeber him? the uber qualified Doctor who works with Glut1 patients) in Dallas, TX at UT Southwestern. We begged and pleaded for his office to see us and they finally set up an appointment after months of calling. Now, with her genetic testing results back we can take them to him in March and HOPE AND PRAY that he can help her.
Taking Veda to Dallas has no certainties. It does however provide the best care and treatment Veda can receive. Being that only [phone redacted] people now have Glut1 there isn't much knowledge on it. Dr. Pascual made this his life's work. He is our hope and our potential miracle for Veda to have relief from this debilitating disease. Nobody deserves to go through what she does day to day. It takes a toll on her and on us.
We don't want to ask for sympathy because our beautiful angel chose us as her parents, and we wouldn't change that for the world. We have had many people ask how they can help and at this time with the financial uncertainty we face, a small donation towards Veda's care would be greatly helpful. In order for Dr. Pascual to continue his research as well, and we would like to donate to the rare brain disorders foundation he created. Our hope is to find a CURE for Veda and everyone facing a rare brain disorder. Thank you!
The Salazar Family