Revisiting Our Diagnostic Journey

Owen was--as you are all aware--diagnosed with Dravet Syndrome about five years ago. This diagnosis however was merely based on Owen's physical characteristics, his intractable epilepsy, and developmental delay. Geneticists never found a genetic mutation linking him to the disorder. With that being said, we have always held on to a shred of doubt about this diagnosis. There were always questions, for example, "Why has Owen never had febrile seizures or seizures that last hours, or even minutes? Why do Owen's seizures seem to mostly revolve around food and mealtime? Why does Owen not possess behavioral or social issues?" Though Dravet Syndrome is a spectrum disorder and every child is different with this disease, we still wanted to look further. 

A few months ago I started this journey of looking further into Owen's diagnosis upon seeing an episode of The Doctors about a girl who suffers from Glut1 defiency. She had over 200 seizures a day; her symptoms were very similar to Owen's. Glut1 is a neurological condition in which this particular neurotransmitter transfers an insufficient amount of glucose to the brain; therefore, the individual's brain is "starving." RED FLAG. Blake has a glucose issue. Could these two diseases be related but yet present themselves differently in each child? I continued to search Owen's past medical records and compare them to online research to see what I could find. Here's what I came up with (warning: medical jargon ahead, proceed with caution:)):

1. Glut1 kiddos almost never have behavioral/social issues. This is true with Owen as well.

2. Owen was never tested for the Glut1 mutation in all the genetic testing we had done.

3. Owen showed an elevated T3 in his genetic testing, and his geneticist was positive we would find something from this result. Much to her surprise, we found nothing. An elevated T3, from my research, is linked to Glut1.

4. Owen's medical records showed a low glucose reading; however it wasn't I guess low enough to raise a red flag at that moment. 

5. Other signs and symptoms that Owen possesses related to Glut1: microcephaly (small head circumference) and strabismus (eye turning and lack of focus)

6. Glut1 is often misdiagnosed for other disorders such as Lennox-Gastaut or DRAVET SYNDROME.

7. And finally, Glut1 kiddos almost always respond well to the ketogenic diet. Well, Owen tried the diet for a year and 8 months and it didn't work; he ended up vomiting every meal for 3 months, then his dr ended up finally taking him off of it. That puzzled us.....until we found out that Owen is severely lactose intolerant. We were shoving heavy whipping cream, cheese, and butter down his throat, expecting this to work (hence the vomiting:(). Fast forward to the present. I took it upon myself to start Owen on a modified keto diet (high fat and protein, low carb). After two weeks of no seizure decrease, Owen all of a sudden showed significant seizure reduction. A UA at the time showed he had a trace of ketones....which means it was working!!! 

Now, I'm not saying Owen for sure has Glut1. But deep down in my heart I've always had huge doubts about this Dravet diagnosis. Therefore, at his last neurology appt, Owen gave blood for an epilepsy-related gene panel that tests 55 genetic mutations, including Glut1. We are waiting for the results, which should be back the first week of August or so. I wish I could conclude this blog post with a different diagnosis, but instead I will conclude with a TO BE CONTINUED.....

Hemp Bill Hearing 2/17/15

Owen and I returned to Topeka last week for a hemp bill hearing on the House side. This bill would not legalize whole-plant medical-only cannabis, but it would legalize three or four high CBD strains that could potentially really help Owen. And since whole-plant legislation seems so far down the road for these lawmakers in Kansas, this is really our only option currently.

The hearing experience was a bittersweet one. Owen and I were sitting in the front row right behind the testimonial podium. We were directly in the House committee's line of sight. During a testimonial, Owen had a pretty bad seizure. I was fortunately holding him, so I quietly consoled him as I always do while he fell asleep. After the person testifying at the time was finished, the committee had a chance to ask questions. Rep. Kevin Jones from Wellsville publicly asked me if Owen had a seizure a couple of minutes ago. He was speechless. His face dropped when I replied "yes." He couldn't find any other reply other than, "I'm so sorry. I don't know what else to say. That was just really difficult to watch."

From that moment on, I felt the entire committee's eyes on Owen. They witnessed five more seizures in his sleep in the remaining 30 minutes or so of the hearing. A few of them approached Owen and I after the hearing, introduced themselves, acknowledged they had witnessed his seizures, and offered their support and empathy. Though I absolutely do not want Owen to struggle with seizures, I am at least grateful that the committee saw firsthand what this kid endures on a daily basis.....and I hope that vision stays with them as they vote on this bill.

http://www.kansas.com/news/politics-government/article10547738.html

http://cjonline.com/news/state/2015-02-17/house-weighs-bill-allowing-medicinal-use-low-thc-pot-extract

Links and Updates about Senate Hearing 1/21/15

Gavin and I took Owen up to Topeka a few weeks ago to testify on behalf of legalizing medical cannabis for Owen to access. My dad, sister, brother, and friends Vicky and Haley Batchman all made the trip up to the Capitol to show their support for Owen. Below are a few media links from the hearing:

http://www.gbtribune.com/m/section/1/article/81244/

http://ksn.com/2015/01/22/family-hopes-medical-marijuana-can-help-their-son-control-his-seizures/

Here are some pictures of our debut at the Capitol:


                


                            

An update on how things are progressing.......
I received a flood of positive support and encouraging reactions from all avenues, including committee members, friends and family, media outlets, and complete strangers from every generation and walk of life. The one person who sat emotionless and less than moved was the one person I needed to crack....the chairperson of the Public Health and Welfare Committee, Senator Mary Pilcher-Cook (R-Shawnee). While everyone in the room seemed drawn to tears from hearing my testimony about Owen's hardships, she did nothing. It was pretty devastating to come to the realization that not everyone wants and will do what's best for our son. However, I am not defeated and have a few options to pursue, including:

1. Continue to open the lines of communication with the Senate Health and Welfare Committee. I just found out last night that if we can persuade at least 5 committee members to vote that SB9 deserves a democratic process, instead of being hushed by one opinion who's not seemingly representing the voice of the people of Kansas, then SB9 could in fact progress to a formal hearing. I know these committee members are compassionate and believe in the way our governmental system works; I am confident they will side with Owen and these other sick children.

2. I am also working to get medical cannabis amended onto another bill, a House bill this time. It is called "The Right to Try" bill, in which terminally ill Kansans would be able to use non-FDA approved or experimental medication for a debilitating or fatal illness.

3. A Hemp Bill is being introduced as we speak. Although this bill would possibly be too specific for Owen, it would be a start in the right direction....and we will take anything we can get at this point!

4. The House also has a similar medical cannabis bill, HB2011, that somewhere down the road could be a possibility if these other three scenarios don't pan out. I am beginning to reach out to House Health Committee members, hoping that these individuals will invest in Owen's well-being.

Well, there you have it, this is how I've been spending all my time these days! Speaking of spending my time, I have been in contact with our bishop from the Dodge City diocese, Bishop John (who by the way, seems to love Owen!). I wanted his opinion on the ethics involving medical cannabis and whether or not the Catholic church approves. He overall--based on a couple of emails--seems supportive. He is also coming over to our house for lunch this Sunday to discuss it further. Please wish us luck, and cross your fingers that Dex (or Gavin) doesn't say anything inappropriate!!!! :/

As always, we are so thankful for everyone's unconditional support for our family, especially for Owen. That kid is a rock star, and Gavin and I are just glad you all love him like we do.