new neuro...

This past week we went to a new neurologist.  This doc was recommended by her pediatrician and was a fantastic referrral!  He is part of Cincinnati Children's, but is at a different location.   Hannah and I both LOVE this new neurologist.  From even the first moments, he seemed to really "get" Hannah.  It was a very daunting feeling for me to try to explain Hannah in a 1-2 hour session.  Dr. Neuro really eased my feelings and made it very easy to talk.  We talked about these new seizures.  He agrees that puberty is reeking havaac.  He basically said to pull up my boot straps and know that it isn't going to be an easy time, but we will get through it.
About half way through the appointment, Hannah was being... ahem... very distracting.  I was having difficulty concentrating on what he was saying because I was having to "manage" Hannah.  He saw and understood this.  He stood up and told Hannah "come on... let's go for a walk."  He took her down the hall and to the nurses station, sat her down at a comupter to play games.  He came back and in the room and we continued to talk.  He said "it's okay... i deal with this all the time.  She will be fine out there and she is entertaining the nurses!!"
He really gave me hope that there ARE more medications to try.  But, he wants to continue to give Depakote a try.  But he DOUBLED her dose and changed her to an extended release tablet.  Dr Neuro thinks it should work better.  He said she wasn't on near enough Depakote.  He also increased her Diastat to 20 mg from 12.5 mg.  And, Dr. Neuro wants to add Ativan into her resue meds.  He said it works a little better and is much easier to give (squirts in the mouth in between cheek and teeth).  We will go back in 2 months to see if the changes in meds are making a difference in her seizures. 

At some point, I started to cry.  I was feeling so overwhelmed that we finally have  a doctor who understands Hannah.  He can see the "whole Hannah" and not just looking at one part of her and sending us on our way....


And then he dropped the bomb shell..........










He asked if she has even been tested fro Dravet Syndrome.  I told him I had talked with genetics a year or two ago about testing for it.  They poo pooed me saying she wasn't "severe" enough.  Dr. Neuro said that absolutely is not true.  There is a range of severity just like in Down Syndrome. He said there are kids on his caseload that look just like Hannah.  They are considered Higher Functioning Dravet kids.... He said they are really smart over there (genetics), but they don't know seizures....  He really feels she has Dravet.  Dr. Neuro thinks given her history, how she looks, how her seizures have changed, how she acts... that we may have FINALLY found a diagnosis.  Holy cow.  I really don't know how to feel.  Part of me is relieved and the other part of me is freaking out!  I am scared and giddy all at the same time.  At one moments, I feel like, yes, this really fits her.  And then other moments, I feel like, nope, no way...

From the Dravet Syndrome Foundation:  http://www.dravetfoundation.org/

Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of epilepsy for which there is currently no cure. Seizures begin in the first year of life in an otherwise typically developing infant. Initial seizures are most often prolonged events and, in the second year of life, other seizure types emerge. All seizure types are remarkably resistant to medical therapy and the prognosis for Dravet syndrome is poor.



Individuals with Dravet syndrome face a higher incidence of SUDEP (sudden unexplained death in epilepsy) and have associated conditions, which also need to be properly managed. These conditions may include:


•behavior and developmental delays


•movement and balance issues


•growth and nutrition issues


•sleeping difficulties


•chronic upper respiratory infections


•sensory integration disorders


•disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating)



Children with Dravet syndrome do not outgrow this condition and it affects every aspect of their daily lives.


Unless a cure or better treatments for Dravet syndrome is found, individuals with this disorder face a diminished quality of life. Current treatment options are extremely limited. The constant care and supervision of an individual with such highly specialized needs is emotionally and financially draining on the family members who care for these individuals.




So, we did lots of bloodwork and urine testing.  And now we wait.... we should have the results in 6 weeks.  I know it won't change the treatment... to have a name.... but we will HAVE A NAME!!!  All the doctor's for 9 years have all felt there is a syndrome, but have not been able to come up with one....  We will see...