We're back and thank goodness for that. What a long and cold three days! Owen's dr.'s appointment was as productive as we hoped for. We were looking for three things: 1) a diagnosis, 2) an agenda of how to treat his condition, and 3) the dr. agreeing to communicate with someone back here so we wouldn't have to travel to Baltimore 4 times a year. We were potentially 3 for 3!
Let's start with the diagnosis. Dr. Kossoff believes (along with Dr. Knupp from Denver Children's Hospital whom we saw this last summer) that Owen has what's called Dravet's Syndrome. Owen tested positive months ago for a gene mutation called SCN1A, which goes hand-in-hand with Dravet's. Gavin and I were tested, and Gavin turned out to be a carrier for the mutation. Our dr. told us that since Gavin isn't exhibiting any of the symptoms (seizures, developmental delay, etc.) that it's impossible for this to be Owen's issue. We laid this lead to rest trusting he was correct. After many misfortunes with our dr. at Children's Mercy, and two other reputable dr.'s telling us the same condition, we are possibly getting to the end of the road as far as Owen's diagnosis. We will see a geneticist in the next month or so and hopefully she can shed some light.
Dr. Kossoff gave us a list of medicines, supplements, and possible surgeries that are complimentary with children with Dravet's who are also on the ketogenic diet. We have new hope that something will work, or at least decrease his seizures. For the longest time (about 8 months to be exact) we have been on the same diet and the same medications. The drs. would just increase a medication, tell me to call them in a week, and wait three days to call me back, only to basically stall because they didn't know what else to do. The cycle would repeat itself and they would tell me to increase another medication. Now we have new medications, new procedures,...it's a new day and we are hopeful something will help! The last procedure he recommended is a surgical implantation of a VNS chip; it would be implanted in Owen's chest cavity (a one-day procedure) and would hopefully decrease the seizure activity in his brain. He said they rarely stop the seizures, but usually decrease the frequency.
Finally, Dr. Kossoff agreed to communicate with our dr. at Children's Mercy if we had any concerns or questions...wow, does this save us some travel time and money! Overall, this was as productive of an appointment as we could have hoped for.
And the best news of all--though it's not set in stone--Dr. Kossoff does not believe Owen's condition is degenerative. Hallelujah. He simply believes the seizures caused him to lose some skills, which is very common in kids with epilepsy. Thank you for caring about our little boy, who is so blessed to have all of you in his life.
Let's start with the diagnosis. Dr. Kossoff believes (along with Dr. Knupp from Denver Children's Hospital whom we saw this last summer) that Owen has what's called Dravet's Syndrome. Owen tested positive months ago for a gene mutation called SCN1A, which goes hand-in-hand with Dravet's. Gavin and I were tested, and Gavin turned out to be a carrier for the mutation. Our dr. told us that since Gavin isn't exhibiting any of the symptoms (seizures, developmental delay, etc.) that it's impossible for this to be Owen's issue. We laid this lead to rest trusting he was correct. After many misfortunes with our dr. at Children's Mercy, and two other reputable dr.'s telling us the same condition, we are possibly getting to the end of the road as far as Owen's diagnosis. We will see a geneticist in the next month or so and hopefully she can shed some light.
Dr. Kossoff gave us a list of medicines, supplements, and possible surgeries that are complimentary with children with Dravet's who are also on the ketogenic diet. We have new hope that something will work, or at least decrease his seizures. For the longest time (about 8 months to be exact) we have been on the same diet and the same medications. The drs. would just increase a medication, tell me to call them in a week, and wait three days to call me back, only to basically stall because they didn't know what else to do. The cycle would repeat itself and they would tell me to increase another medication. Now we have new medications, new procedures,...it's a new day and we are hopeful something will help! The last procedure he recommended is a surgical implantation of a VNS chip; it would be implanted in Owen's chest cavity (a one-day procedure) and would hopefully decrease the seizure activity in his brain. He said they rarely stop the seizures, but usually decrease the frequency.
Finally, Dr. Kossoff agreed to communicate with our dr. at Children's Mercy if we had any concerns or questions...wow, does this save us some travel time and money! Overall, this was as productive of an appointment as we could have hoped for.
And the best news of all--though it's not set in stone--Dr. Kossoff does not believe Owen's condition is degenerative. Hallelujah. He simply believes the seizures caused him to lose some skills, which is very common in kids with epilepsy. Thank you for caring about our little boy, who is so blessed to have all of you in his life.
I am so glad you finally have some answers and the dr. was able to come up with a plan. This blog is a great idea! Thinking about you lots~
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