Information on this test provided by Athena Diagnostics Quick Guide:
The Early Infantile Epileptic Encephalopaties (EIEE), including Ohtahara Syndrome and early myoclonic epilepsy, are a group of severe epilepsy syndromes characterized by intractable early-onset seizures (generally in the first months of life) and a highly abnormal "burst-suppression" EEG pattern.
EIEE typically presents with treatment-resistant tonic spasms, focal seizures, and rarely, myoclonus. Over time, 40-60% of EIEE patients evolve to West syndrome, characterized by infantile spasms and a highly disorganized "hypsarrhythmia" EEG pattern. In general, many of these patients evolve to Lennox-Gastaut syndrome (often, but not always, between ages 3-6), which presents with mixed seizure types. Testing is indicated for individuals presenting with the above symptoms (tonic seizures, abnormal EEG, and myoclonus).
Reasons to test for EIEE:
Genetic testing can:
- Provide a confirmatory diagnosis
- Genetic testing for STXBP1, ARX, CDKL5 was rated "very useful" and "highly accurate in correct clinical context" by International League Against Epilepsy (ILAE) guidelines
- STXBP1 is mutated in 36% of patients with Ohtahara Syndrome.
- Provide important inheritance and genetic counseling implications
- ARX is an X-linked disorder that is seldom inherited, providing important inheritance implications
- Determine appropriate treatment options
- STXBP1-associated seizures in EIEE may respond better to Vigabatrin
This test is over $10,000. Insurance is willing to pay for some of the cost but we will still owe $2,100 ourselves. We are now on a mission to raise enough money so that Rayleigh can get tested as soon as possible.
Below is the link to a fundraiser I have set up to collect some of the costs needed, please share it with anyone who may be able to help Rayleigh Bug!
If that doesn't work, try this direct link to the Fundrazr: http://fnd.us/c/eKEyc
I was wondering if they had tested her for CDKL5. My daughter Bristol was diagnosed with IS around the same time as Rayleigh. We were diagnosed with CDKL5 on valentines day this year.
ReplyDeleteAlso, I'm not sure about your insurance, but if for some reason (heaven forbid!) that Rayleigh was an inpatient at the hospital, would your insurance pay the full 100% of the test?
ReplyDeleteHello! She has not yet been tested for CDKL5, it is one of the genetic disorders that will be checked for with the EIEE test that we are raising money for. Our primary insurance does not ever cover 100% of Bug's medical expenses EXCEPT for well-child visits. We have SoonerCare state provided insurance as a secondary that covers whatever our primary does not on neuro visits, eye exams, EEGs, MRIs, etc. BUT, our secondary insurance will not cover any of this EIEE test because the blood is sent to an out-of-state lab for testing. Our primary insurance will cover 80% of the EIEE test and we are raising and saving money for the remaining amount.
ReplyDeleteHi Krystal,
ReplyDeleteSmall, small world I have to tell you! I was talking to Caitlyn yesterday and she had mentioned Rayleigh and I told her that I too had also contacted you on your blog. This is just too ironic! I am hopeful that you may get answers once Rayleigh is tested. She is having the same test that Carly had and the CDKL5 is what tested positive as you already knew. I also wanted to let you know that while you are waiting to be tested that you should join the cdkl5 support group if you are on Facebook. There are a couple of families on there that are also waiting to be tested. This us where I came into contact with Caitlyn.
E-mail me sometime if you get a chance.
Take care,
Amy
One more thing...is the test being done in OK or TX?
ReplyDeleteHi, Amy! The blood will be drawn here in OK but it will be sent to labs out of state, Branson, MO I believe but I'll have to double-check on that. I'll email you soon :)
ReplyDeleteI was only asking because I know you guys go to Childrens in Texas and I did not know if you could have the blood drawn there and then have them send it to Baylor University. Carly's test was sent to them which is actually Baylor College of Medicine. Just reading your convo with Caitlyn about Medicaid not picking up the 20% difference if it was sent out of state. I know TX is out of state but I knew you did visit Childrens and did not know if this was maybe an option for you and your insurance.
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