Mimi's email

My mom sent this email to family and its a really good summary of whats been going on. I am too mentally exhausted to do this... so I am going to copy/paste her email :)

Hi - I realized after coming out of a fog - that there were many of you who we had not told what was going on with Claire.  I apologize if you already know all this- or if this is just not something you don't want details on - I just don't want to leave anyone out.  

I've had a few people call to ask me about Claire - and realized I had not told you.

We came home from the hospital in a fog, had some wine and then went to bed.  Yesterday, Jaky and the kids came over and we just took care of Jack who had been vomiting all night long - and watched Claire for signs of her seizures.

Claire was diagnosed with and unknown (Cryptogenic) Generalized Epilepsy - she is having Epileptic Spasms.  She typically has 5 a day.  They last a few minutes and she has a cluster of spasm/seizures.  

Jaky has videoed them and I am sure many of you have seen one. (If not I am sure Jaky will share with you)

Claire has had an EEG which was abnormal and an MRI that was normal.  This ruled out the worst case - which was infantile spasms, which cause brain damage.  She has to go back on June 10th to have another MRI to MAKE sure that she does not have infantile spasms. (please pray for this)

Her seizures are all over her brain, they are not in one area (partial).  Surgery is not an option.  Medication has a 60% chance of working - and after seeing a super terrific Neurologist on Tuesday she started medication.  Jaky and I both think that it has reduced the length and intensity of her seizures.  Jaky saw about 5 yesterday - but one of them I saw - she had her hand in her mouth and was dazed looking - and then did ONE muscle spasm/jerky motion - then sat dazed - then got up and went to play.  A HUGE difference.

She seems to know when she is about to have a seizure as she comes and wants to be held, begins chewing on her hand/fingers, her eyes become distant and she begins to jerk every 15 to 20 seconds. Her head tilts forward and her arms and sometimes her legs jerk in an upward motion.  

Currently her seizures are NOT hurting her brain. 

Because it is genetic, and all over her brain (generalized) - we know there is no physical cause - the doctor told us that it is caused by a brain abnormality. One of the clues to it being genetic was that her head was not shaped correctly and her ears were a bit low and shaped how they were shaped. Physical reasons were ruled out (no car wreck or brain injury)  We have no idea what else this will effect.  The doctor wants to do genetic testing (which we were ready for since Olivia had already recommended it) . . . the insurance refused payment on it.  Well Jaky has been a bulldog and has already gotten them to approve Claire for testing - but the doctor wants the parents - so Jaky is now working on getting approval for them to be testied.  The doctor explained that genetic testing changes every month - and now he can do the entire Exome or Whole Exome - in other words - test all of her DNA - and see what is there.  Giving us a great deal of information on what to expect. This will allow us to be proactive.

Olivia is going to be a huge asset to our family and to baby Claire!!

I hope that updates you some - 

We are really praying for the medication to work - she only has a 60% chance that medication will help - and you can only try two - because if two don't work - they have discovered that none work.  And she is also statistically in the group of those with epilepsy that could continue for her whole life.  We are praying for benign epilepsy - that she will grow out of.  And praying for the medication to work!

I am sure I have missed things - but now you are all in the loop.  I apologize for not telling each of you - but it is a bit overwhelming.  

Thank you Sande and Jerry - you have been a life saver - keeping Jack (for hours) and thanks Marion for running after Claire in the waiting room for hours while we talked to the Neurologist.  We would not be in the same place without your help.

Jaky is reading a book given by the doctor - and we are learning . . . Jaky and I have decided we want an epilepsy shirt - supporting Claire!  So - if we come up with something cute we will let you girls know!

have a super great thursday!!

Praise God for all that He has done for Claire so far, and will continue to do for her.  Praise God that Jaky is a vigilant and excellent Mom who was so observant and got Claire into the doctor so quickly!!

I am so proud of Jaky and Austin - who are doing a great job with Claire - let us all pray for them to also keep focused on one another and keep their marriage strong.

Love to you all - Jennifer