I just wanted to give a an update of our final meeting with Dr. Tuxhorn before we flew home on Friday. It was so much information that Marc and I wished we recorded it. I am going to write everything I can remember even though it may not make a lot of sense to everyone. So beware this is long and probably more information then you want to know!

She first started by explaining the results of Lauren's 3-day EEG. In the past we have never had too much of an explanation of her EEGs. We mostly would get "very abnormal" , "looks worse or better then before", "it is generalized", "there is slowing in the back ground" etc..
Dr. Tuxhorn explained that she did have slowing in the background (which is not good at all) but that there were times she had a normal background for her age (the benefits of doing a long-term EEG). That sometimes she did have good spikes when she was sleeping (which is not the case with some). That most of seizure activity was happening when she slept. She is having brief myoclonic seizures throughout the night, (all we see visually, if we are awake to see, is her opening her eyes and then her eyes roll slightly back in her head). It shows that these brief myoclonic seizures build then she has her grandmal seizures in the early part of the morning. She did identify the convulsive seizures that she is having as Tonic-Clonic or Clonic seizures not Tonic seizure (which is not a good prognosis usually). Her feelings or impressions is that the Keto diet is helping control the day seizures but she is having these break through seizures through the night, then these nightly seizures build and she begins to cluster them more and go into a status period where we have to use her rescue meds or go to the hospital. She also feels that looking at her EEG that her epilepsy is of a genetic nature. Katie our 8 year old had 1 febrile seizure (seizure with a high fever) when she was 3, and I have a cousin with controlled grandmals. It is believed that Doose syndrome is genetic, even though the other examples are so different. She told us Dr. Doose (which she worked with in Germany) would travel through different villages and towns in germany with children he suspected had this syndrome and he would hook up EEG monitors to their whole family. He found that even if family members who didn't have seizures they still had "markers" on their EEGs, thus making it genetic. This is all they know now about the genetic nature of Doose. Another severe seizure sydrome "dravet syndrome" they have found a genetic link on the sodium channels in their brains, so now they have a genetic test that can confirm for sure they have this syndrome-this is a big discovery for dravet Syndrome which will help them in their treatment and research for a possible cure. Hopefully someday that will be found for Doose syndrome? (In my research I have read that Doose syndrome can skip up to 5 generations and it usually has to have something from both parents-don't know if this is true or not?)
So Dr. Tuxhorn does believe that she has Doose Syndrome. In the past we have been told she could have Doose or Lennox Gastaut Syndrome (LGS). Both are rare and extremely severe seizure disorders/syndromes but with LGS the prognosis is really bad. With Doose syndrome the outcome or prognosis is varied they can have complete remission (normal) to moderate to severe mental retardation. So we don't know what Lauren's abilities will be but knowing Lauren has Doose Syndrome gives us more hope of a possible better outcome.
*As an example, I can think of Downs Syndrome. There are certain things that all people with Downs Syndrome have but their abilities can be varied.
*A side note about syndromes. A syndrome is a group of signs and symptoms that together are characteristic of a particular disorder. Many times "syndrome" is used for a group of characteristics that occur together, though the reason why they occur is not known. This is true for many rare syndromes. Sometimes the syndrome is named after the person who discovered it.

Dr. Tuxhorn went on to talk about Lauren's treatment options. Knowing she has Doose Syndrome there a certain treatments that have shown to work better then others. Children with Doose usually respond very well to the ketogenic diet (which she has, but not completely), other treatments with good response has been ethosuximide and steroids. Steroids and the diet can't be used together because they counteract each other, also steroids can't be used long term without many side effects. Ethosuximide is a drug that is used for absence seizures (staring spells). That is the only use most doctors will use the drug for, not for grandmals or other seizure types. Of the 8-9 drugs that Lauren has tried this drug has never been used. Dr. Doose found that Doose Syndrome sometimes responded to Ethosuximide with good success even though that is not the typical use. This is why it is good to go to a epileptologists (neurologists with advanced training in epilepsy) that specializes in Doose Syndrome! So that is the drug we started while in the hospital at the Clinic. Their are gastrointestinal side effects with this drug. Lauren has had some stomach problems and was throwing up in the night. Hopefully she will get use to the drug and they will go away soon. Since most of her seizures are at night we are going to start off giving it only at night (which would not be done by a lot of other doctors). If this med doesn't help she is thinking of using bromides to stop the grandmal seizures. Bromides was the first drug used in the 1800s for seizures, once other drugs were "invented" it stopped being used. It is no longer available in the US except for animals. It has a very hard therapeutic range to get and only very specilized doctors know how to prescribe it and feel comfortable using it. (It is used more widely in Germany). We are also keeping an open mind to using steroid if this fails. Dr. Tuxhorn also prescribed us Diamox for her "bad episodes" to try instead of using Diastat (rectal Valium). It may work just as well without drugging her up so much with valium. If that doesn't break her bad cycle we are still to use diastat. In almost 2 years of this going on I have never heard of this drug, just having another option to use is in an emergency is huge for us!

As you can see we have a game plan an organized game plan! I feel that in the past few months we were getting back into the cocktail of drugs of try this and try. This will still be trial and error but with direct reason for each trial.

We feel so blessed with the opportunity to go to the Cleveland Clinic. Before we left I kept questioning myself of the benefit of going across the country,again? Will a doctor really do anything different? Is it worth all the sacrifice on our family? The only thing I regret is that we didn't do it sooner, it was an amazing experience!

Again I want to thank everyone for your prayers on Lauren's behalf. Each step of the way we have felt guided and blessed. She has been blessed by the many prayers and blessings she has received. We know that Lauren is in the Lord's hands and that she is loved by her Father in Heaven and He is going to direct her path, whatever that may be. We feel so blessed to have Lauren in our family, through her we have experienced many special moments. There are days when you can see Heaven in her eyes.


Some more pictures while at the Cleveland Clinic.