Stop counting

Stop counting!

I haven’t not written in ages because I don’t have anything to talk about.  The problem is I have too much to talk about and not enough time.  Today I will make the time to write.  I hope that you’re glad I did.  At least I know that my Mother is interested.  Happy Mothers Day Janet!  Happy Anniversary Jeremy!  Everyday is mother's day,  when I'm home with my boys. https://youtu.be/UgB0eaQ6SsE

I just got back from Sweden and I wanted to share the coolest thing with you all.  When I landed in Stockholm, there was this chap dressed in black, wearing a little cap and holding a sign that said my name on the back.  He drove me in a beautiful Mercedes to the most amazing hotel.  From there I cannot tell.   But I can cross that one off my bucket list!  

Alexey Pshezhetsky, Jill Wood, Brain Bigger. Me and my scientists, at the Vasa Museum, Stockholm Sweden

I’m now back in NY for a solid 2 weeks.  During the next two weeks we will be packing and moving.   We’re not going far, we’ll actually be closer to Jonah’s favorite pizzeria and playground.  Jonah is a bit baffled by the move as we moved this time last year. We’re referring to our current residence as our ‘new old house’ and the new house as our ‘new new house’.  Jonah questioned Jeremy about the move and asked him about our new new home and if we would be taking everything from our old new home to our new new home.  All the while eyeballing the TV.  Jeremy said yes.  Jonah still staring at the silent tv, said: “Ok, then I can carry the remotes. “

Next week we hit the air again this time to the west coast.  I was asked to speak at a pharma sponsored family picnic about my experiences with diagnosis, creating JJB and founding Phoenix Nest.  I’m not a big fan of speaking engagements especially those that take place in California.  I’d really rather visit places like Stockholm.  Anyhow I couldn’t tell this CEO no.  Then I realized the speaking engagement in CA was taking place the day after ‘BBB for JJB.’  Bid, Bunco and Boogie for Jonah’s Just Begun.  Catchy right?!  So I made it a condition on our trip to California, that I must stop in Oregon first to attend this fundraiser!  I also demanded in my rider that I be picked up at the airport by a Daniel Craig look alike, driving a powder blue aston martin.  I crack myself up.  FYI, it was Jonny that taught me about riders.  Speaking of engagements, I also get to hang out with my brother-in-law, while in San Francisco.  Funny story... When I decided it was time to get married, I picked out my engagement ring and showed it to Josh.  Josh then made sure that his brother got the message!  Thanks Josh.

I’m really looking forward to hanging out with my mates in Oregon.  I hope to see many of my long lost friends at this event.  Alison (my former sorority sis, turned event planner) said that the tickets are selling fast.  Buy purchasing now, you will receive 2 FREE drink tickets.  I'll forgive you if you buy your tickets at the door,  but I won't give you any free drink tickets.  Make life easier on everyone and purchase before May, 20th. 

Oregonian's Purchase tickets here!  It's going to be super fun.
 http://jonahsjustbegun.org/bbb-for-jjb-bunco-bid-boogie/

Why was I in Sweden?  Biomarin was nice enough to invite me to their workshop about the CNS involvement in MPS.  I was invited last minute, but jumped at the opportunity to go.  

I’m obsessed with this phenomenon that many of our MPSIII kids go through.  Periods of uncontrollable sobbing or on the flip side manic laughing.  These states come out of nowhere.  Obviously the crying side is scarier then the laughing.  Parents are beside themselves, not knowing how to console their child.  What’s wrong?  Their doctors go through a myriad of tests, looking at every possibility, but nothing comes up. Some patients do it for months, then it just stops.  Sometimes it comes back again years later. Others will do it for a few weeks and it never happens again.  

Can you imagine your child pacing through your home moaning, screaming, sobbing for hours on end over the course of months?  The doctors can’t figure it out.  Is it pain?  Is it dementia?  What if it’s the brain telling the body they are in pain?  These children are no longer verbal they can’t tell you what’s wrong.   Not knowing what’s happening for the parents is excruciating.   Sanfilippo has few papers written on the dementia aspects of Sanfilippo.  Most of our papers are scientific and only discuss the biology of Sanfilippo and potential treatments to correct the metabolic disorder.  Nobody truly understands exactly why the behavioral issues occur.

I have brought this phenomenon up to our neurologists before and have been told that since these kids are non-verbal and have systemic health problems that it is very hard to pinpoint why they are crying.  It could be anything…  I beg to differ. I don’t think these kids are in physical pain I think it’s neurological.  Case in point, one of our friends took their MPSIII child to the ER for a broken leg.  The technicians caught a glimpse of his hips during the x-ray. Not only did he have a broken leg, but his hips had deteriorated.  

A verbal adult would have been at the hospital years ago screaming in excruciating pain.  Not this boy, he went along business as usual.   They wouldn’t have caught it if it was not for his broken leg.  This is supported by the fact of the handful of cases that I have documented, none of the children ever came back with a physical diagnosis.  I brought this up to a fellow MPSIII mom, who also happens to be a pediatrician. She suggested that it might be the psuedobulbar affect,  PBA.  There is a recently approved FDA drug that treats PBA, Nudexta.  I asked a few of the families if they had ever been dx’d PBA, one family said that their clinician dismissed it immediately because they claimed it only happened in the elderly. Ugh.   Another family said yes, that her son was dx’d PBA because of the manic laughing side of PBA and Nudexta calmed her son within hours.   I’m excited about pursuing this lead further. 

I have been talking about conducting our Natural History Study.  FINALLY, well maybe finally. I mean we have only been talking about kicking off the NHS for 5 years.  But who’s counting.   Alas, the National Institute of Health has signed off on our NHS protocol!  WooooOOOoooHHhhhhOOOOOoooo .  So that’s something to celebrate.  But now we have to get IRB approval from the hospitals board which could take awhile. Our PI remains optimistic and has guesstimated that approval from his hospitals IRB could come within the month.  I won’t count the days.

Several of the scientists working with JJB and PN were invited to the MPS workshop in Sweden.  Patti, Brian and Alexey all gave talks- which made me proud.  All of our scientists are at least a 6 hour flight away and 3-5 hour time zone difference.  Another reason why I graciously accepted Biomarin’s invite.  Face time with our scientists is priceless, but going to see them on our own dime is expensive.  Here I get to talk to them in person for free.  Brian, the PI for our gene therapy program and I had a lot to discuss.

How many times have I said that our gene therapy program is close to trial?  I don’t know nor does it matter anymore.  So please stop counting.    

I figure we have one shot here and we can’t cut any corners.  It’s actually not just one shot.  We’re looking at drilling six burro holes into our children’s skulls then injecting a viral vector encapsulated with the missing enzyme  AKA gene therapy, into the holes.  Our next study will help us decide how many injections should be done in each hole for optimum vector/enzyme distribution.   Do you want to help us pay for this? We’re looking to raise a half million over the next two years!!

If you can't make the BBB for JJB party, you can always purchase raffle tickets.  Texting to donate works too.  Text 'JJB4CURE' to 4144

I have so much more to unload on you all, but I’m going to stop here.  Tomorrow is mine and Jeremy’s 10^th year wedding anniversary. Our wedding anniversary also marks our personal ground zero, Jonah’s terminal diagnosis of Sanfilippo Syndrome.  How many years has it been now?  I don’t want to add up the years anymore.  All that counts is that Jonah is still alive and doing very well.  He still has a chance to fight his fate!  

Happy Mother’s day to all of us.  Hope to see many of my mom friends in Oregon next week.