Thursday, October 30, 2008

Lots of news around here in the last two days. We saw an Epileptologist yesterday that gave us some new news and also received a report from a records consult we had done with a doctor in Houston who specializes in Metabolic disorders. We sent records to her in June and you don't see her but she looks over the records and gives you her opinion based on what she knows of him. We didn't tell any of our family that we were doing this because we were afraid they'd say, "You're consulting with ANOTHER doctor?" and we didn't think they'd understand. We sent our records to her back in June when Emeric was having a lot of seizures and our neurologist in Fargo and the neurologist in Cleveland could not, or would not help. Our neurologist in Fargo is primarily for management of meds and admittingly doesn't know a lot about metabolic disorders. Our neurologist in Cleveland is good but he sort of gave up after Emeric's biopsy came back normal and said he didn't really know what else to do. So, we heard of this great doctor in Houston who was actually on Good Morning America a while back because she is THAT good. :) She does records consults and this was perfect for us. We really believed in our hearts that something was wrong and even the neurologists agreed something was wrong but they couldn't find it. It wasn't like we were looking for something that wasn't there. We knew something was there and it would just take the right set of eyes. I know lots of parents whose kids have metabolic disorders who have seen upwards of 8 neurologists so I didn't feel crazy just yet! :)

Now, having said all that... Starting with the Epileptologist we saw yesterday he said Emeric's EEG from that morning looked much better than the previous one we had done in Fargo. This is because his seizures have been very well controlled. He said Emeric has Atypical Absence seizures. We've never really known(because no one has told us) what type of seizures he's had although I've made my guesses based on what I know but he said the description of his seizures and his EEG pattern show Atypical Absence seizures. Typically children with Atypical Absence seizures have developmental delays and mental retardation. They also do not typically outgrow their seizures. Honestly I already knew because of his EEG(which shows slowing and slow spike and waves) that this was a poorer prognosis than a child with a normal background and regular spike wave patterns. Mostly this is something I don't allow myself to think about too often.

This doctor believes that if Emeric does start having seizures again that he would be a good candidate for the Ketogenic diet. (If you click on those words you can read about that if you want.) He said there are also lots of other med options still.

Now, for the doctor in Houston... It turns out his muscle biopsy actually was not normal. It wasn't diagnostic in and of itself but it wasn't normal. She said he does have Mitochondrial Disease. She said that while his history strongly supports a diagnosis of a Primary Mitochondrial Disease his muscle biopsy does not so they believe it's a secondary disorder. What they don't know is what the Primary disorder is then. They've been looking for the primary disorder for a long time and nothing has ever panned out. She has some ideas about what to test for in terms of looking for the primary disorder and so does the Epileptologist(who also believes it is Mitochondrial Disease) and those are blood tests that can be done at the same time his seizure med levels need to be drawn. That way we can eliminate and uneccesary blood draws.

We have tests pending with Gillette Children's Hospital that the neuro-developmental pediatrician ordered and we'll do these tests but honestly I think we'll probably never have an answer. And, at least we know we've ruled out all treatable conditions so I guess we can rest a bit easier knowing we aren't missing a potentially treatable condition.

It's funny because we've heard the words Mitochondrial Disease thrown around a lot but no one has ever been able to agree and so when they finally say, yes, this is Mitochondrial Disease it feels weird. Mostly because I've known for so long that this was probably what it was but also because there was always that hope that maybe the primary condition could possibly be treatable. Instead now we have the symptoms of mitochondrial dysfunction on top of the symptoms of whatever the primary condition are.

I know that's all confusing. Believe me, I know! :) For now we know he has Mitochondrial Disease and that helps in knowing exactly how to treat him and what to watch out for. Right now we can continue seeing the Epileptologist and he's willing to work with us regarding the seizures but in terms of the Mitochondrial issues I'm not sure who we'll work with. Possibly the doctor in Houston but that's a far drive.

So, if you wouldn't mind saying a prayer for us we'd appreciate it!


ben and erin said...

my mind is spinning after reading that! i don't know how you keep up with all that info! i'm so glad you got some answers and that the doctor in houston was able to help. i'm continuing to pray for you guys.

Jessica said...

Wow! I'm happy for you that you finally have some answers! I know it's still a long road ahead though. I will be praying for you all!

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