As many of you have probably already seen on Facebook, we have finally received a diagnosis for Drake. Genetic testing shows that he has a specific genetic mutation that causes Dravet Syndrome.
Dravet Syndrome is considered a catastrophic form of epilepsy. He will never outgrow it. From what is currently known about the syndrome, he will likely never lead a "normal" life. He will be plagued with seizures and developmental/cognitive delay for life. There are no "foolproof" treatments for Dravet; Medications typically do not control the seizures - there is one anticonvulsant not currently FDA approved (can be obtained from overseas to the tune of $1200/month) that has done wonders in many Dravet children, but not all. With physical, occupational, behavioral, and speech therapies there is hope that he will continue to progress well developmentally, but between the ages of 2 and 4 years, most Dravet children experience mild to severe regression.
Only two years ago, Dravet was thought to affect only about 500 people worldwide. Since then, it is now believed to affect 1 in 20,000 to 1 in 40,000 people worldwide. In most cases, the genetic mutation occurs spontaneously - there is no known cause, it just happens.
I'll be attending a three day conference in Connecticut at the end of the month to learn more about Dravet, current treatments and concerns (such as bone health and navigating educational systems and social/government services, etc.) and will hopefully have an opportunity to meet with one of the top three neurologists in the world specializing in Dravet Syndrome for a consultation.
This diagnosis didn't come as a total surprise to me. In my quest to figure out everything that has happened with Drake, I found information on Dravet Syndrome and my momma gut told me this is what we were looking at. But it took several months and receiving several phone calls after our fundraising story aired on Fox from people that have or know of children with Dravet that suggested we should have him tested before I finally picked up the phone, called our neurologist and demanded that the testing be done.
Because epilepsy in general is very poorly funded when it comes to private and government funding, Dravet receives VERY little research funding. But there is an organization created by parents of children with Dravet that is working to aggressively raise money for the research necessary to find better treatments and possibly a cure. Because Drake is still so young, there is hope for him. If the research can be completed, they may find ways to help him and so many other children afflicted by this horrible syndrome.
On September 25th there will be a Dravet walk in Toledo (at Swan Creek Metropark I believe). I have set up a team for Drake and we sure would love to have some of you join us! You can join Drake's team or just make a donation here.
Sorry for rambling on so long. I've had a few questions from individuals, so figured I'd try to just answer as much as possible for everyone in one place. :) Don't hesitate to ask if you have any other questions. May give me good ideas of what to ask the neuro's in CT! lol
Thank you so much to all of you for being such a huge support over the last year and a half!
Dravet Syndrome is considered a catastrophic form of epilepsy. He will never outgrow it. From what is currently known about the syndrome, he will likely never lead a "normal" life. He will be plagued with seizures and developmental/cognitive delay for life. There are no "foolproof" treatments for Dravet; Medications typically do not control the seizures - there is one anticonvulsant not currently FDA approved (can be obtained from overseas to the tune of $1200/month) that has done wonders in many Dravet children, but not all. With physical, occupational, behavioral, and speech therapies there is hope that he will continue to progress well developmentally, but between the ages of 2 and 4 years, most Dravet children experience mild to severe regression.
Only two years ago, Dravet was thought to affect only about 500 people worldwide. Since then, it is now believed to affect 1 in 20,000 to 1 in 40,000 people worldwide. In most cases, the genetic mutation occurs spontaneously - there is no known cause, it just happens.
I'll be attending a three day conference in Connecticut at the end of the month to learn more about Dravet, current treatments and concerns (such as bone health and navigating educational systems and social/government services, etc.) and will hopefully have an opportunity to meet with one of the top three neurologists in the world specializing in Dravet Syndrome for a consultation.
This diagnosis didn't come as a total surprise to me. In my quest to figure out everything that has happened with Drake, I found information on Dravet Syndrome and my momma gut told me this is what we were looking at. But it took several months and receiving several phone calls after our fundraising story aired on Fox from people that have or know of children with Dravet that suggested we should have him tested before I finally picked up the phone, called our neurologist and demanded that the testing be done.
Because epilepsy in general is very poorly funded when it comes to private and government funding, Dravet receives VERY little research funding. But there is an organization created by parents of children with Dravet that is working to aggressively raise money for the research necessary to find better treatments and possibly a cure. Because Drake is still so young, there is hope for him. If the research can be completed, they may find ways to help him and so many other children afflicted by this horrible syndrome.
On September 25th there will be a Dravet walk in Toledo (at Swan Creek Metropark I believe). I have set up a team for Drake and we sure would love to have some of you join us! You can join Drake's team or just make a donation here.
Sorry for rambling on so long. I've had a few questions from individuals, so figured I'd try to just answer as much as possible for everyone in one place. :) Don't hesitate to ask if you have any other questions. May give me good ideas of what to ask the neuro's in CT! lol
Thank you so much to all of you for being such a huge support over the last year and a half!