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How can I find a neuroendocrinologist?
Mon, 12/22/2008 - 10:03Hello Everyone.....
My daughter was diagnosed with juvenile myoclonic epilepsy a year ago. She had her first tonic clonic about 4 weeks ago, and had another one early this morning. I am tracking them and find the TCs have ocurred either during ovulation or at the beginning of her period. She is currently on Keppra, Depakote ER, Klonopin and Ativan prn and is still having breakthrough seizures. I am POSITIVE there is a hormonal connection and would like to find a neuroendocrinologist to evaluate her. Does anyone know how to find one or know of one anywhere within a days drive of Pittsburgh, PA?
God Bless.....
Michele
Comments
Re: How can I find a neuroendocrinologist?
Submitted by confused924 on Wed, 2009-04-01 - 19:57
I wish nothing but the best for you, Jess and your family. Your blog has left me speechless. I've been to the chelseahope.org web-site and what sad stories. I will pray for you that Dr. Holder and Dr. Minassian will find the correct treatment and stop this awful disease from progression. It's just so awful, that we went from having normal, happy daughters one day, to them having seizures the next day and this just consuming our lives. Not sure about you, but we don't even have any family history of epilepsy.
How hard it must be for you to answer your daughter's questions when she wants to know why she can't do things she used to. Did she always have the additional symptoms (the drop seizures, the slumping). How was this diagnosed? As you know, my daughter also has the JME diagnosis and I'm wondering if I should be having other testing done. Did these additional symptoms start originally or did they come on later (if you don't mind sharing).
I've heard very good things about Dr. Holder. And, she's on the news quite a bit when they talk about epilepsy. Please know that you are in everyone's thoughts and we're all pulling for Jess. I look forward to hearing from you.
I wish nothing but the best for you, Jess and your family. Your blog has left me speechless. I've been to the chelseahope.org web-site and what sad stories. I will pray for you that Dr. Holder and Dr. Minassian will find the correct treatment and stop this awful disease from progression. It's just so awful, that we went from having normal, happy daughters one day, to them having seizures the next day and this just consuming our lives. Not sure about you, but we don't even have any family history of epilepsy.
How hard it must be for you to answer your daughter's questions when she wants to know why she can't do things she used to. Did she always have the additional symptoms (the drop seizures, the slumping). How was this diagnosed? As you know, my daughter also has the JME diagnosis and I'm wondering if I should be having other testing done. Did these additional symptoms start originally or did they come on later (if you don't mind sharing).
I've heard very good things about Dr. Holder. And, she's on the news quite a bit when they talk about epilepsy. Please know that you are in everyone's thoughts and we're all pulling for Jess. I look forward to hearing from you.
Re: How can I find a neuroendocrinologist?
Submitted by confused924 on Wed, 2009-09-02 - 19:32
Hi Michelle --
Just wondering how Jess is doing. I've been checking this blog, but haven't seen any updates. Hope all is well. Please let us know.
Hi Michelle --
Just wondering how Jess is doing. I've been checking this blog, but haven't seen any updates. Hope all is well. Please let us know.
Re: How can I find a neuroendocrinologist?
Submitted by Jess_sMom on Wed, 2009-04-01 - 10:10
Confused....sorry, I don't know your name!
Things with Jess vary day to day. Lafora is a monster of a disease, and everyday is unpredictable. She is on a boatload of meds right now....Depakote, Keppra, Banzel, Zonegran, Klonopin, and as needed Ativan, and she still has days her seizures are not controlled. She has daily atonic/drop seizures, trunk ataxia (where she loses tone from the waist up and her upper body just kind of slumps forward). Some days she can't feed herself because her fine motor skills are challenged. She often falls off the toilet because for whatever reason when she assumes that particular posture, her body rebels and seizes. As terrible as the seizures are, the absolute worst part is the loss of cognitive skills. It is like having a 2nd grader in a 15 year old's body. Her short term memory is practically nonexistent, and she has trouble following directions and sometimes can't get the right words out. Emotions are often raw and unchecked - she simply does not have the level of control to keep them civil. There are days she knows that she has changed, and asks why she can't walk or talk. We have chosen not to tell her of the diagnosis, and see no point in it.
As of today, Lafora is fatal. Treatment is palliative and aimed at seizure control. Dr. Holder at Children's has been wonderful and accessible. She, of course, has never had a patient with this disease. It is so very rare it only affects about 1 in 1,000,000 children. There are only 200 documented cases WORLDWIDE. She consults with Dr. Minassian in Toronto who is the one who broke the genetic code on Lafora. They are very close to finding a treatment - they know what needs to be done, but are trying to figure out a way to deliver the treatment without causing further harm. We can only pray they are able to move forward with it. This is such a rare disease there is practically NO FEDERAL FUNDING FOR RESEARCH. They are reliant on private donations. It makes research difficult. I hope to start raising funds soon. I've had to severly curtail my work hours to stay home and take care of Jess. She hasn't been able to go to school for the past 2 months....
Again, I encourage ANYONE who might read this to visit www.chelseashope.org to find out more about this crazy awful disease. The symptoms mimic juvenile myoclonic epilepsy....I always knew Jess's disease course was not typical JME, and if you read the parent stories on the site, you'll know why it is so devastating.
Hope you and your daughter are well....cherish everyday God blesses you with.
Take care,
Michele
Confused....sorry, I don't know your name!
Things with Jess vary day to day. Lafora is a monster of a disease, and everyday is unpredictable. She is on a boatload of meds right now....Depakote, Keppra, Banzel, Zonegran, Klonopin, and as needed Ativan, and she still has days her seizures are not controlled. She has daily atonic/drop seizures, trunk ataxia (where she loses tone from the waist up and her upper body just kind of slumps forward). Some days she can't feed herself because her fine motor skills are challenged. She often falls off the toilet because for whatever reason when she assumes that particular posture, her body rebels and seizes. As terrible as the seizures are, the absolute worst part is the loss of cognitive skills. It is like having a 2nd grader in a 15 year old's body. Her short term memory is practically nonexistent, and she has trouble following directions and sometimes can't get the right words out. Emotions are often raw and unchecked - she simply does not have the level of control to keep them civil. There are days she knows that she has changed, and asks why she can't walk or talk. We have chosen not to tell her of the diagnosis, and see no point in it.
As of today, Lafora is fatal. Treatment is palliative and aimed at seizure control. Dr. Holder at Children's has been wonderful and accessible. She, of course, has never had a patient with this disease. It is so very rare it only affects about 1 in 1,000,000 children. There are only 200 documented cases WORLDWIDE. She consults with Dr. Minassian in Toronto who is the one who broke the genetic code on Lafora. They are very close to finding a treatment - they know what needs to be done, but are trying to figure out a way to deliver the treatment without causing further harm. We can only pray they are able to move forward with it. This is such a rare disease there is practically NO FEDERAL FUNDING FOR RESEARCH. They are reliant on private donations. It makes research difficult. I hope to start raising funds soon. I've had to severly curtail my work hours to stay home and take care of Jess. She hasn't been able to go to school for the past 2 months....
Again, I encourage ANYONE who might read this to visit www.chelseashope.org to find out more about this crazy awful disease. The symptoms mimic juvenile myoclonic epilepsy....I always knew Jess's disease course was not typical JME, and if you read the parent stories on the site, you'll know why it is so devastating.
Hope you and your daughter are well....cherish everyday God blesses you with.
Take care,
Michele