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Tuesday, August 20, 2013

Time out.

Time out.

Jonah and I are in OR at Grandma’s house.  We’re prepping for next weekends 4th annual wine & beer tasting, silent auction benefit.  Salut, Prost, Cheers... To a Cure.

Today Jonah and I are taking a long overdo time out.  Jonah’s Sanfilippo induced behavioral issues are showing themselves.  It has been extremely difficult to watch let alone address. I have been screaming ‘time out’ to no avail for the past week.  Starting from our flight out here.  Jonah was a complete angel the morning of our flight.  He has been looking forward to this trip for months. Every morning his first words were: “Is it time to see Grandma, Aunt Jennifer, Sydney, Elliott, Campbell yet?”

Our flight was at dinner time.  It took us 45min to get through the baggage check line and another 45min to get through the security line.  I was so impressed with how patient Jonah was while standing in line.  He was far from perfect but he didn’t run away or freak out. That’s really all I ask for.  Once at the x-ray conveyer belt and security scanners, all hell broke loose. First he touched the side of the walls in the scanner, they had to re-boot, Jonah had to wait and go again.  Once through, I grabbed our shoes and started to put mine on. I looked up to see Jonah preparing to run back through the scanner machine so that he could put his hat back through the xray machine.  I yelled for security to stop him, while hopping on one foot. Jonah made a break for it, running gleefully.  He threw his hat back through the machine.  The security people just stood there staring blankly. I didn’t want to chase him, that only makes things worse. I wanted security to grab him, but they just stood there looking annoyed.  Maybe they have rules about touching kids....

So I run for Jonah screaming: “You’re on red light mister!” “Your pad is in time out.”  “Ok so lets just go back home.”  Jonah is on fire at this point and is running back and forth through two different machines, ducking under the conveyer belt, separating the machines. Mind you the lines are 45minutes long.  Each time Jonah ran through the scanner he set it off by touching it. By the time I catch him he’s really scared and won’t go back through, he’s hysterically crying; afraid of the security guard. Finally they let me pick him up and carry him through.

I grabbed our stuff and through clenched teeth I read him the riot act. Not wanting to make eye contact with anyone. Three thoughts... 1. I need a treatment tomorrow!! 2. I can’t fly alone with Jonah anymore. 3. Please nobody recognize me.

I failed to mention in my previous blog that an English flight attendant on my flight back from Italy recognized me.  She came up to me and asked me if I was Jill.  I said yes, not knowing what to think... How did she know my name?  She told me her story, she had learned of JJB through Jonny Lee Miller’s tweets, she has been following us for months. She had even donated to our cause and read through our website.  She recognized me from the CNN interview.  What a trip.

Once on the plane Jonah settled in a little bit.  But never sleeping; making best friends with the school teacher, Dustin from Tualatin sitting next to us. A huge shout out to Dustin for his patients and understanding.  Dude... Jonah licked the guys arm on several occasion and he jumped in his lap and tickled him numerous times.  This is a 5 hour flight. I couldn’t have gotten luckier to have sat next to the nicest guy in OR.  I didn’t tell him about Jonah’s issues, I don’t like to talk about it in front of Jonah. I should have passed him a business card, I just didn’t want to bring it up.  My nerves were shot. I know he knew something was up.  All I said was that Jonah has tactile and sensory issues.

Jonah has been over stimulated ever since. Yesterday was an absolute nightmare, trying to work out a major glitch in our wine event planning.  Jonah demanding 24-7 attention and monitoring, relentlessly harassing his cousin.  Today we took a time out.  Sent Grandma and Campbell to the Zoo, while Jonah and I decompressed. This was the best thing we could have done. I worry about how the over stimulation is helping to advance the disease.  It’s all neurological.

I also got the results back today from Jonah’s second blood test, his liver enzyme levels are even higher then last time. Just more insult to injury, nothing we can do about it right now.  We’ll go see our specialists when we get back, I doubt we’ll be able to help the issue much, it’s just the disease doing it’s insidious thing.  At least now I know for sure it wasn’t the Vyvanse that caused Jonah’s compulsions; I can put him back on it. Fingers crossed it curbs his compulsions.

The news just doubles my anxiousness.  I want a cure now!

I look forward to our wine event for help, I want to raise more and more $$ so that we can expedite the science. I keep thinking about Alexey’s most recent discovery and the research that has spawned from his discovery.  He’s just about to run out of money and we recently got word that he didn’t win the grant that he applied for in February. :( 

This is what Alexey had to say in the recent article in Chemistry & Engineering.

Montreal’s Pshezhetsky recently found something unexpected in the brains of mice with the Sanfilippo type C mutation. As the central nervous system of the mice is progressively debilitated by the buildup of sugar molecules, the mice become hyper­active, fearless, and lose their ability to learn. But Pshezhetsky made a curious observation: The symptoms aren’t caused by dying neurons.
That finding runs counter to common wisdom that the brain cells of Sanfilippo kids become clogged and die. The scientist hypothesizes that the buildup is instead causing defective synaptic transmission, or a disruption in the cross talk between brain cells, and he is searching for molecules that could protect or restore that neurological function.

Synaptic markers in the brain appear to be reduced in all four types of Sanfilippo. Moreover, Pshezhetsky thinks the effect could exist in the broader MPS population; academic studies are ongoing to confirm the hypothesis. He is also testing existing neuro­protective drugs to see whether any show signs of efficacy.....

I take so much hope from these words. To read the entire article about our efforts and obstacles visit

FYI the journalist, Lisa Jarvis of the article is coming to our wine tasting event!  Even more reason to read the article... it’ll make for a good conversation piece.

To avoid the lines to get into Salut, Prost, Cheers  (I have a feeling they might be congested) you can purchase tickets online up until Saturday night.

Jonny Lee Miller has been really great about Tweeting for the wine event.  He’s such a wonderful person... Follow him on Twitter and watch for his tweets about JJB and the wine event. Follow JJB @JJB4CURE and Jonny @jonnyjlm