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Jess_sMom

How can I find a neuroendocrinologist?

Hello 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?

Jess_smom --

We were in contact with each other on your other blog and I just came across this blog by you.  My daughter (15) was also diagnosed with JME.  How is Jess doing?  Have you been able to find a neuroendocrinologist?  Has this helped her?  Please keep us posted.  I've been checking this sight daily to keep up to date with your daughter -- I know she was going through a rough patch.

 

Re: How can I find a neuroendocrinologist?

Hi Confused....

Sorry it has taken me so long to update, but things with Jess have continued to get worse. Because she wasn't responding at all the the meds that usually work well with JME, Dr. Holder (our Neuro) ordered some genetic testing which was done in December. Much to our dismay and heartbreak, the results came back as a 99% certainty that Jess suffers from Lafora Disease, which is one of the fatal progressive epilepsies. We are currently awaiting biopsy results to confirm what the bloodwork has told us. Actually, as I type this, I am with Jess at Children's....we've been in since Monday. Dr. Holder has been in contact with one of the 2 world renowned experts in this disease, and he's been kind of guiding her. We are going to try a new drug, but ultimately, there is no cure for this dreaded disease. I encourage you, and anyone who might read this post, to visit the website www.chelseashope.org for information. The more the word is spread, the better chance there is to find a cure. There are currently 2 promising therapies, but because Lafora is an "orphan" disease, there is very little funding for research. The more who know, the better.

Michele

Re: How can I find a neuroendocrinologist?

I AM SO SORRY TO HEAR THIS!  I have never heard of that -- I will definitely visit that web-site.  How much longer will you be at Children's?  Is there surgery that can help with this?  All I can say is I will keep you in my prayers.  PLEASE keep me posted.

Re: How can I find a neuroendocrinologist?

I am so sorry to hear of your dx.  Life is so unfair.  I have added you to our prayers and pray they find the cure or some help.  Both my kids have JME and I fear it being progressive as well.  Hang in there.  We are here for you.

joan*

http://health.groups.yahoo.com/group/JuvenileMyoclonicEpilepsy/

Son lamictal 175 2x 19 Grand Mals - Stable Daughter keppra 750 16 Juvenile myclonic - Not stable yet

Both had first issues at 15 - Both JME - gotta love puberty : ) * Both dealing with the nuances that come with it.

Re: How can I find a neuroendocrinologist?

Michele -

 Just wondering how things are going with Jess and if you have any updates.

 

 

 

 

 

Re: How can I find a neuroendocrinologist?

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

Re: How can I find a neuroendocrinologist?

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?

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?

Ask your dr for Diamox! This helps during the cycle. Trust me!!

Re: How can I find a neuroendocrinologist?

Yes, Diamox!  You are right, Lola.

I have what is called Catamenial Epilepsy.  My seizures are now undercontrol, since I started taking Diamox, a year and a half ago. Diamox is a diuretic and removes excess water that is retained around the menstural cycle of a woman. 

My seizures occured only around the time of ovulation and right before and right after my menstrual cycle started.  I am still working on severe moods and dark thoughts around ovulation and my period.....but no more seizures.  I can drive, my memory is incredible, now!  My short term memory used to be rediculous.

 My seizures began at 18 months and then became very predictable once my menstrual cycle started at age 11......at ovulation and around before and after my menstrual cycle.  I was diagnosed with Catamenial Epilepsy, but not until 2009 did a neurologist recommend Diamox.....which worked.

I am also on other AEDs and anti-depresents/psychotics.  My seizures only became under control with the addition of Diamox in February 2009....it is now September 2010.  The only time I have had seizures was when my gynocologist put me on an Estrogen birth control pill.......and individuals with Catamenial Epilepsy are naturally high in Estrogen.....they need progestrone to counter it.........Take a look at the YouTube video about hormones and epilepsy (catamenial epilepsy) neurendocrinologist, Alan Jacobs, MD: 

Dr. Alan Jacobs - Neuroendocrinology | Behavioral Neurology   http://www.youtube.com/watch?v=zZTenCyu-gA

Good luck to all.

To your Health,  LovesMath 

 

Re: How can I find a neuroendocrinologist?

Try Dr. Alan Jacobs, a neuroendocrinologist. http://www.neuroendocrinology.org/