OK so Claire has been seizure free since Jan 5. Since then, I have no focused as much on her "diagnoses" or test results, bc HEY my baby is doing better! BUT- after meeting weekly with Joanne, Claire's therapist, she has really dived into all of the documents, diagnoses, reports we have as she is helping us to apply for programs to help. So she needs to know all this information. SO below I am going to copy the exact diagnoses. I need to find out why no one has mentioned to me anything about metabolic stuff?? Is it because seizures are under control with the medicine (Onfi) and so there is no reason to look further?? Is there something else affecting Claire that we don't know about or are not addressing??. . (which is what Joanne is working on- trying to get us into see their nutritionist, geneticist etc). We do go back to Katy in December to see the geneticist at TX Children's for the FIRST time. I know we will get answers to a lot of questions then. Okay enough rambling. . . I may have made no sense above, but to me it makes since and I like having this blog because I can go back and read this stuff when doctors ask dates and times and what was going on at this time etc. Because EVERY day things change and I cannot keep up without keeping some sort of log. After this I am going to call neuro..and ask a bunch of questions. Which I have already done, so I cant believe I missed this. . .Maybe the metabolic things are just possibilities rather than something she HAS and thats why noone has mentioned it? not sure. . . Another thing Joanne said to do is that I need to get any reports I can get my hands on from all of Claire's EEG's, MRI, just everything she has ever had.
Here is the medical diagnoses that was written OCT 2013 to send to insurance to show them that she has epilepsy and tell them that something is wrong and we need this testing. It took about 6 months just to get everyone on the same page with all the right paper work and about a million phone calls from me. (That bill is NOT included in the amount on the gofundme)
"Claire has a complex medical condition, the etiology of which remains undetermined. Claire has a developmental encephalopathy with global delays, dysmorphic features and cryptogenic generalized epilepsy with clusters of epileptic spasms. The underlying etiology of her delays and epilepsy is almost certainly a genetic condition that may represent a metabolic disorder, including Glucose Transporter Deficiency, or one of the Progressive Myoclonic Epilepsies. It is medically essential that comprehensive genetic testing be performed to determine the underlying etiology, as this will guide therapy and help anticipate the future. Genetic testing could be ordered for various conditions individually and this would require that a lumbar puncture be performed. However, Whole Exome Sequencing can now be performed that is a single test and is much less expensive than ordering all the studies separately."
Wednesday, September 10, 2014
Joanne
post from facebook:
Claire's new therapist Joanne is an angel yall. I am SERIOUS! She comes over with more research than anyone (besides me or my mom) has ever done on Claire and all of the big crazy words in her diagnoses. She gives me SPECIFIC examples of things to do with Claire to encourage her talking. I cannot say ENOUGH good things about her. She is helping us figure out every program we can apply for to get help for Claire, medical bills etc. She is AMAZING. Thank you for everyone who prayed for Joanne. . . God is good.
Wednesday, August 27, 2014
Saturday, July 12, 2014
Friday, January 17, 2014
Jan 17 2014 after DR
Update after seeing Dr Wilfong- on my phone so sorry for spelling or grammar mistakes.
Her seizures have changed to grand mal seizures which are much more common and much easier to treat. Before she was having "clusters."
He think it's very unlikely that she was having drop seizures as he would have seen activity on her EEG that was a couple of days ago.
Her EEG showed MAJOR IMPROVEMENT!! He said they are looking at the activity happening between seizures and Claire's was nearly gone!! Aaaannnndddddd before she was having activity all over the brain, now it was only in front right love of brain. Which is awesome news. Also because it's in one part of her brain- if something happens and she starts having seizures that we can't control w medicine then she could be a candidate for surgery. Before that would never have been an option since she has activity all over the brain.
Our next step, is if she continues to do well, having not many seizures, then in a month we will start to play with her meds. BC she is on three meds. So the last one we added was onfi. So there are two possibilities- 1, that the onfi has made her seizures stop by itself, OR 2, it's the combo of all three that is working. So we will decrease zonegran and go from there....
And her development is great and she is talking and doing awesome!
Praise GOD!!!
Her seizures have changed to grand mal seizures which are much more common and much easier to treat. Before she was having "clusters."
He think it's very unlikely that she was having drop seizures as he would have seen activity on her EEG that was a couple of days ago.
Her EEG showed MAJOR IMPROVEMENT!! He said they are looking at the activity happening between seizures and Claire's was nearly gone!! Aaaannnndddddd before she was having activity all over the brain, now it was only in front right love of brain. Which is awesome news. Also because it's in one part of her brain- if something happens and she starts having seizures that we can't control w medicine then she could be a candidate for surgery. Before that would never have been an option since she has activity all over the brain.
Our next step, is if she continues to do well, having not many seizures, then in a month we will start to play with her meds. BC she is on three meds. So the last one we added was onfi. So there are two possibilities- 1, that the onfi has made her seizures stop by itself, OR 2, it's the combo of all three that is working. So we will decrease zonegran and go from there....
And her development is great and she is talking and doing awesome!
Praise GOD!!!
Jan 17, 2014
We go to see Dr. Wilfong today. . . .
Also Claire has been seizure free since Jan 4th! (that is IF she was not having drop seizures and was just being clumsy) She had the drop seizures on the 6th and 7th of Jan.
The Whole Exome Sequencing Genetic testing is supposedly FINALLY STARTED! We had our blood drawn in June I think of 2013. . . So it has taken this long for everyone to get there SH!T together and communicate. I have spent hours and hours and days on the phone with different people and for it finally be over is such a relief. Hallelujah!!! Minimum - it could take 3 months to get results. . . but it could also take up to a year . . . .
Also Claire has been seizure free since Jan 4th! (that is IF she was not having drop seizures and was just being clumsy) She had the drop seizures on the 6th and 7th of Jan.
The Whole Exome Sequencing Genetic testing is supposedly FINALLY STARTED! We had our blood drawn in June I think of 2013. . . So it has taken this long for everyone to get there SH!T together and communicate. I have spent hours and hours and days on the phone with different people and for it finally be over is such a relief. Hallelujah!!! Minimum - it could take 3 months to get results. . . but it could also take up to a year . . . .
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