Wednesday, August 24, 2011

Shit for Brains

I think most Americans must suffer from shit for brains, mostly by choice.  Here is a story about a little girl that was lucky enough to have that shit removed.  It is courtesy of my friends at EFCO after a little training at the Anchor Center shed light on our story a couple of weeks ago.  I have summarized and removed names so email me if you want more info.

Age 5: Family notices an array of ailments ranging from violent stomach aches and strange actions like placing her hands in front of her mouth for 10-15 seconds at a time start to develop. Multiple GI tests and miss-diagnoses were not helping.

Age 6: First tonic-clonic seizure after a case of strep-throat (Google PANDAS if you are interested in this stuff) that causes epilepsy to go out of control.  At this point they had no idea she had neurological issues or seizures.   For 7-months they had seen 3 neurologists, several cocktails of AED’s, and multiple MRI and EEG imaging in both NE and MN.  They thought they found seizure control as the tonic-clonics had stopped.
Age 7: Regression begins, neuro-psych is called in, and special education is increased.
Age 8: RAPID regression sets in with loss of basic life skills. Childlike happiness is ‘extremely apparent but more in relation to a 5-year old, not one about to turn 9’. Start aggressively seeking neuro help.
Age 9: “, further testing is done to try and put a name to the culprit that is stealing our daughter away from us. An actual diagnosis is not provided however, we are encouraged to take place in experimental trials to see if it slows the regression. With one doctor saying this and another doctor saying that, we decide to ask for a third opinion and hop a plane to the closest specialty hospital in the nation, Cleveland Clinic in Ohio. It is there she is diagnosed with Electrical Status Epilepticus during Sleep (ESES) Syndrome. What causes ESES is unknown. It is very rare, occurring in only 0.5% of all cases of children with epilepsy. In today’s modern medical world, there are no medicines to combat the effects of the syndrome. The characteristic feature with this disorder is a constant and severe deterioration in neuropsychological functions, language capacity can be particularly affected, and a profound decrease in intellectual level and poor memory.
There are two main experimental trials used to combat the effects of the syndrome which don’t always work and have their own side effects. One is high dose steroid treatment over a 6-8 month period. The other is high dose Valium taking nightly for 8 weeks. Doctors do not know exactly why these work in a small percentage of cases but in an effort to help battle the regression, they know it is an option for the family to consider trying.”

Age 10: She participated in both of the medical trials. First was the Steroid trial, which caused her to swell up like a balloon. Other side effects include enlarging your heart and damaging other vital organs.  She finished 3rd grade looking like a completely different child. The second trial was high dose Valium, equal to the amount given to a grown man before surgery to calm them, which she took every night for 8 weeks. In the end, neither trial slowed the regression nor stopped the ESES as it continued to attack her brain 80% of each night.
With all available options exhausted, we were presented with a third option considered by some as ground breaking in the field of neurology while others felt it was too risky to consider. Not only is she unique for developing ESES, or double unique because she was seizure free at the time the ESES Syndrome took hold, but she is super, duper unique because she was born with a malformed left Hippocampus which makes her a surgical candidate.
The Hippocampus is the portion of your brain that is responsible for short term and long term memory along with language. The Hippocampus splits directly in the center of the brain, half going to the left and half going to the right. her left side did not form correctly while developing. That doesn’t mean it wasn’t working, just may not have been working as well as it should.
There is a limited amount of research occurring in the Neurology world that suggests that patients diagnosed with ESES and who also have a brain malformation, by removing the malformation, you can stop the ESES brain spiking. Now, by limited, I mean that there have been less than 15 surgeries performed at Cleveland Clinic in connection to ESES Syndrome in the past five years. Cleveland Clinic performed an est. 330 epilepsy related surgeries in 2009 (adult and pediatric). That is an est 1600 surgeries in the past five years with only 15 specific to ESES Syndrome. But, with are daughter slipping away and no other options to consider, we decided it was the best choice to proceed with surgery.
Age 11, well ok, nine days before her eleventh birthday, she had brain surgery to remove her left Hippocampus at Cleveland Clinic. The surgery took 5 hours with an additional hour in pre-op and one in post-op. The first few days were spent in the Ped’s ICU and gradually she was moved up through the ranks of beds when five days later she was in an Epilepsy monitoring unit being prepped for dismissal from the hospital. We stayed in Cleveland an additional few days and then flew home to Omaha.
She has not had any side effects from the surgery. She did not have paralysis of the right side (common when removing a left portion of the brain), she did not lose speech (also common when removing the Hippocampus), did not have any seizures (very common when messing with the brain of a person with epilepsy) and no infections. She came out of surgery the same way she went in, perfect, well perfect in our eyes at least.
Now, four months till her 12th birthday, we made the follow up trip back to Cleveland and for the first time since surgery, had tests completed to see if the surgery lessened the effects of her ESES Syndrome or perhaps even eliminate the syndrome all together. When the Cleveland Epileptologist walked into the room grinning from ear to ear and suggesting to us to do the “happy dance” I could not believe it. She was cured. Yep, I was even given permission by the doctors to use the “C” word, CURED!!!! Tears flowed, phone calls were made, ice cream was purchased and we were the most elated parents in the entire Cleveland Clinic Hospital, I guarantee it.
This case is considered a medical triumph, and new knowledge of ESES Syndrome will be shared with medical students as well as practicing physicians across the nation and the world.  We are on the fast track to getting better and making huge head way catching up with peers in the classroom. These past eight months, we have seen our daughter flourish and amaze us every day. The doctors have taken her off one of her two epilepsy medications and since then, she has grown almost three inches and lost seven baby teeth. Her feet are as big as mine and she stands before us a different child.
Well, Ava’s issues started about 6-years sooner than this case and my how many things are similar.  Her prognosis would probably not be quite this great as this child due to the additional syndrome/mitochondrial issues she has.  Agenesis of the Corpus Callosum has also been checked, and rechecked in Ava as she presents this way with motor planning issues, etc.  It is also something that MOST Mowat-Wilson children suffer from. 

Maybe someday we will know.  I will blog soon about an appointment we had today and our 6-month plan for both mito and neuro issues.  If you’ve made it this far, you know more about ESES than you probably ever desired.


Rebecca said...

Very interesting! You leave no stone unturned, good for you!

Mary F said...
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