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Sunday, October 18, 2015

Black Friday- the ugliest day of the year

Mari and I are working on JJB's Holiday fundraising campaign's.  They center around Holiday spending.  Planning JJB's Holiday fundraising campaign's took me back to my former life as a retailer.

You’ve all heard of Black Friday-  the shopping spree the day after Thanksgiving.  The new era of internet shopping brought us- Cyber Monday.  Giving Tuesday, takes place on December 1st.  Giving a gift without receiving something in return.  Novel concept?

Coming from a seasoned now retired retailer, Black Friday is just about one of the ugliest days of the year.  I’m going to share with you a few disturbing retail stories.  Hopefully my experiences in retail will encourage you to stay home on Black Friday.  Kick back and enjoy life with your children and grandchildren feast on all those delicious leftovers.  You can thank me for this advice on Giving Tuesday.

My first job out of college was as a department store manager.  All the employees had to choose between working on Black Friday or Christmas eve, it was a no win decision trying to decide between the lesser of two evils.

On Black Friday, we had to be at the store by 6:00 am and many of us ended up working until close.  Thrifty shoppers drooling over Black Friday sales- wake-up at the crack of dawn and drive to the crowded mall.  With their coupon books and ads in hand, customers anxiously waited for us to unlock the doors.  Only to be disappointed that the item they wanted was sold out. They had been outsmarted by the customers who put the item on pre-sell.

Many shoppers are ready for a fight. Arguing on the fine print on their coupon. Of course they want the high-end jeans at the discounted price, not the pair featured in the ad.  They hold up the line, the associate has to call a manager to come manage the dispute.  I show up, all smiles which really annoys the customer.  She yells at me to stop smiling at her, accusing me of laughing at her.  She makes the biggest scene she can in front of all the other tired and angry customers.  Hoping that I’ll break and give her the discount on the item that is not on sale. I stand my ground, she doesn't realize that I do have it out for her, I left family and leftovers to come serve her.  She curses at me, throwing her item aside and swearing she’ll never shop here again.  I should be so lucky.  Unfazed I walk to the register and politely say, with a smile on my face, “Who’s next?”

I wish you all knew how seemingly normal people, turn to lunatics when they want something they can’t have at the price they want to pay.  People this isn’t a stoop sale, you can’t barter here.

Some customers are major jerks and others are jerk offs.  Retail is a nasty industry.... If you continue reading, be forewarned.

One very black, Black Friday I got caught up helping a gentlemen, with finding the right cut and size of Levis.  I was frantically running back and forth to the fitting room grabbing him styles.  Stopping and ringing people up, helping others as I went along.  My Levi customer kept asking me for more and more styles.  Which didn’t surprise me, some people are obsessed with just the right cut.  I was however surprised and mortified by the present he left me in the fitting room.  I picked up the pile of his discarded jeans and felt something warm and sticky between my fingers. The Levi guy was a 'jerk off'.

The kids and young adult department's are the worst to manage,  the coveted departments are held for the senior managers.  Being fresh out of college I was stuck managing the young men’s and the children’s departments.   Word to the wise don’t ever sit on the ground in a fitting room and try not to touch anything.  The fitting rooms are treated like port-a-potties, but with no toilet, only a pile of clothes to relieve oneself on.  No garbage cans for used sanitary napkins and why use toilet paper when the sleeve of the shirt that you’re not going to buy will work? 

I bet, Cyber Monday is looking better and better to you! Or Giving Tuesday- save yourself the trouble and just send a check to your favorite charity in the name of your cousin.  FYI we’ll send both you and your cousin a lovely card, thanking you for the wonderful gift.

If you do shop Cyber Monday and use Amazon, please consider using Join AMAZON smile for JJB and choose Jonah’s Just Begun as your charity.  JJB receives a small % of the proceeds every time you shop, which adds up! I realize many people despise amazon for their bad labor practices, but I bet an amazon employee never had to pick up a pile of clothes that were saturated and dripping with urine.

Jonah is writing his Christmas list
He wants an: Iphone, Wii and a new IPad.  I have become a huge cynic of the Ipads. For Jonah, screen time of any kind turns him into a junkie.  He will say anything to try and convince you to let him watch a movie or play on the Iphone. He’ll promise to do his homework, which he’ll then rush through, hardly paying any attention at all, barely listening to instructions.  Then scream, “I’m done, now can I watch a movie?” 

Last week we checked Jonah into the hospital for an EEG 
Some kids take two days to capture an episode, some take two weeks.  I was pretty confident that we’d get an incident from Jonah in the first day.  However, I was prepared to stay for a few days.  I took an entire suitcase of board games, books and cool new games.  Jeremy and myself, along with Jonah’s: therapist, Psychiatrist and Neurologist were all concerned that Jonah might be having absence seizures (petit mal).  Jonah does this thing where he, ‘checks out.’ It looks like he’s engrossed in a daydream, but he doesn’t respond and he does it off and on all day long. Picking at his fingers and sucking on his lips.

We arrived at the hospital and hooked Jonah up with the leeds about 30 wires glued to his head, which didn’t go over well, but we got it done.  We were both happy to have a roommate to play with.  The boys played one game together, then Jonah asked to watch a movie, the boy pulled out his Ipad. Later we went to the playroom, I was relieved to be getting away from the two tv’s and the Ipad.

Jonah in his ceremonial headdress, performing "We're not going to Take it, No we're not going to take it anymore!" - Twisted Sister.
Once in the playroom the children on an extended stay at the hospital, pulled out a Wii, they knew all the ins and outs of our floor.  I wanted to cry, No not another video game!  Jonah of course had a major meltdown when it stopped working.  The aids and I were able to drag him away after ten minutes of trying to reason with him.  We sat down and played a cool new board game.  Not long after,  Jonah ‘checked out’ and was unresponsive to myself and the aids. He was  having one of his typical episode that we were concerned about. I clicked the button to notify the staff.

Please, no electronics for Jonah on Cyber Monday.

As a child, what made you the happiest during the Holidays?
Was it a toy, family time, a video game or something else?  My favorite Holiday memories were first eating myself silly then playing board games with my siblings, cousins and neighbor kids.   Better yet porker with my grandparents and aunts and uncles.

Then the Atari 5200 came out and the playing of board and card games came to a screeching halt. Instead my siblings, cousins and I fought over who’s turn it was to play on the Atari next.

Practically everyday I say to Jonah, “Why do I buy you all these wonderful toys, when all you want to do is watch tv and play games on my phone?”

I remember my Mom asking me the same thing whenever I was engrossed in a video game.  I thought to myself I don't know... why do you?  Seriously, who needs toys when you have Space Invaders?!

Jonah will be spending Thanksgiving with his dad and grandparents.  He'll have lots of face time with his cousins too.  The only thing he loves more then an Ipad is his cousins. I'll be with my other family in Switzerland on Thanksgiving, for an International Sanfilippo conference. I'm really looking forward to seeing all of my families. We have a lot to catch up on, we'll mostly be talking about our kids and how we need more money to save their lives.  You know,  typical family conversation.  I'll tell them how Jonah just lost a tooth.  He came home from school and said his tooth was wiggly.  He asked me to pull it out.  I think it's cool that Jonah lets me pull out his loose teeth.  Anyhow, he put his tooth in an envelope and wrote on the front;  Dear, tooth fairy,  My tooth is in here.  He put it under his pillow.  That evening, Jonah yells from his room at 3:00am.  "Mom the TOOTH FAIRY didn't come yet!!!" lol

Back to Holiday fundraisers.
Last Year we jumped on the Crowdrise Giving challenge late and missed out on some big bucks.  This year we’re trying to get ahead of the game.  We have started to build our campaign page on Crowdrise.  The theme: "This will be our year-And we've Only Just Begun"  It's the title of one of my favorite songs.  Fundraising will go live on November 24th and will run through January 7th.  Supporters and other Sanfilippo families have begun to set up their team member pages, you can too.  We're hoping that our supporters will create a team profile, then share it with all of their friends and family. The more teams involved, the more money and awareness we can raise. 

Start here
 This will be our year-We've Only Just Begun
A tip... you can put a link on your Holiday greeting cards to your fundraising page. 

There will be several chances for JJB to be entered to win cash prizes from Crowdrise (we won 1 of them last year)  To prepare yourself for what’s to come, check out what the challenges looked like last year here. https://www.crowdrise.com/GivingTowerChallenge2014

Last Years Cash prizes for the top fundraisers broke down like this:
- The team that raises the most during the Challenge wins a $100,000 donation
- Second place gets $50,000
- Third gets $25,000
- Fourth gets $10,000

I was absolutely thrilled that the JM foundation won the 2nd place in the Holiday Challenge, receiving a prize of $50,000.  The JM foundation represents an ultra-rare disease as small in numbers and equally horrific as Sanfilippo.

Notice the 1st, 3rd and 4th winners are all for Elephant sanctuaries... Kind of random... Altogether they raised with bonus prizes: $768,011 for the homeless elephants.

Fun Fact
Our gene therapy is less then two years out from going to clinical trial.  We need $750,000 to finish our toxicology testing for our gene therapy.  Jonah has a chance to fight his fate and hereafter children born with Sanfilippo type C will not die of Sanfilippo type C. Think on that.
 
Just recently, we barely missed winning $50,000 in the online Microsoft contest.  Microsoft was giving away $50,000 to 5 different foundations in the U.S. To win you had to be one of the five foundations that had the most FB, Twitter and Instagram posts in support of your cause.  Supporters had to post daily for a month on all their social media sites.  We entered a week late into the contest. Yet we were neck in neck with the three of five of the winning foundations.  We almost had it, alas our reach just didn't reach far enough.

FYI the most voted nonprofit was Ian Somerhalder’s animal sanctuary.  Ian, is known for his vampire role on Vampire Diaries.  I didn’t know who he was either until the contest, but he has 6million followers on twitter!



Does it disturb you that animal sanctuaries often take precedence in these voting contests?  It used to really annoy me.  I contemplated not doing it, how could I subject my son to loosing out to a frog farm? It comes down to the fact that we really really need the funding and I don't have time to plan and execute lavish physical fundraisers, throughout the year.  These contests are cheap and easy to do.  Plus they help raise a massive amount of awareness.  We can reach a lot more people through social media, then with a local fundraiser.  Don't misunderstand me, we're still all about local fundraisers, these contests are great fillers between the physical fundraisers.

My point is... I hope it enrages you or at the very least rubs you the wrong way, that people vote for puppies over babies.  Maybe then you'll try to do something about it.  

I realize now, that people just don't know any better.
Think about Ian and his fan base of teenaged girls, blindly voting for their idol's animal sanctuary.  These teenagers have know idea that there are 7,000 rare disease, with only 400 treatments. Half of those rare diseases affect children and a third of those children won't live past the age of 5.

Can you explain to your healthy teenager that they could have been one of the children suffering from a rare syndrome?
It really just comes down to the luck of the draw.  I had NO idea that this huge community of dying children existed either.  I'm here now to tell the world that they are here and our children need your help.  So pry the Iphone out of your teenagers hand and ask your teen if they have an instagram or twitter account... Like you're accusing them of smoking pot.  Oops that's legal now in OR. Make them follow JJB, then have your teen teach you how to use twitter and Instagram. If you can't beat them join em' on Instagram.  It will be a great bonding experience.

Follow us on Twitter (followers 625). https://twitter.com/JJB4CURE
Follow us on Instagram (followers 265) https://instagram.com/jjb4cure/
Follow us on FB (followers 2,740) https://www.facebook.com/Jonahs-Just-Begun-Foundation-to-Cure-Sanfilippo-Inc-132452613432013/?ref=hl
Sign up for our mailing list, see side bar for link. Watch for our action alerts.  We need your help.

FYI, I would never in a million years have a: blog, youtube channel, Instagram or Twitter account if it wasn't for my new job.  I wanted to be a stay at home mom, have a plot in the community garden and a spot on the PTA.

Lastly set yourself up for our mobile text account and get ready for Giving Tuesday.  To join text to the number 51555 write the message ‘JoinJJB’

Remember $750,000 means we could be in trial in less then two years. $50,000 pays the year salary of a postdoc.

This blog is in memory of my late Aunt Joy.  Aunt Joy who lived up to her name, was a very lovely lady and devoted mother.  My heart aches for my cousins.  She will be laid to rest in Oregon next week.

Due to bad timing, this event was cancelled we will reschedule for next year!

KOIN, T.V's Eileen Park has promised to emcee, at our new date.

'Mirror, Mirror on the Wall... Who's the Rarest of them All'  Was and still will be dedicated to Landon, on the left.  Landon was just 9 years old when he unexpectedly passed away in his sleep. The same day as Landon's passing, I woke up Jonah and got him ready to start his first day of second grade.







Sunday, July 12, 2015

Whoever said....



Fundraising is easy... Said no one ever!



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Jonah's Just Begun and South Slope Pediatrics are hosting a super fun kid friendly fundraiser.  As this fundraisers 
focus is to raise much needed  funds to support a clinical trial for the ultra-rare terminal pediatric 
disease, Sanfilippo Syndrome.  

This Hawaiian themed fundraiser is jammed packed with fun for the whole family!
 
Kids will enjoy: 
Hula Dancing (with professional hula dancers) 
Rollerskating VIP Passes Splash-pad 
Face Painting
Parents can relax at our reserved tables, enjoy the full luncheon provided, 
(adult  drinks are served one door down at the cafe) and peruse the must-have silent
action items donated by Park Slopes finest businesses.   

Some of the auction items include: 

VIP Tickets to a Rachael Ray Show taping 
Oakley Sunglasses 
NY Kids Club: 10-pack of Pajama Parties 
Restaurant Gift Certificates, and much, much more. 
Original works of art, from local talent!

There is limited space available, so get tickets for the whole family now!
'Luau at Lakeside' http://bit.ly/Luau4JJB 
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Planning a big or medium sized fundraiser is like planning a wedding, non-profits get married once or twice a year.  You'd think it would get easier after awhile, but it's always a new venue, caterer and theme.  It makes my head spin:  Promotion,  Invites, Venue, Food, Decorations, Volunteers, Sound Equipment, Entertainment, Set Up-Take Down, Speeches and M.C.  Most importantly getting people in the door, so you can pay for all the overhead and hopefully raise a few bucks.  The party planning curse.... everybody waits until last minute to purchase tickets or RSVP.  I know I'm guilty of that too!  It never seems like the right time of year to have a fundraiser: it's either wedding season, summer break, the Holidays, back to school, spring break or the dead of winter.  But when is the right time?! Everyone seems to have a different opinion.

The actual event ALWAYS turn out great, myself and organizers are the only ones that know what has gone on behind the scenes.  There was that one incident where the caterer at one of our wine  events totally screwed us over.  Charging 2,000 dollars for food that she picked up at Costco and tried to pass off as home made. Disgusting-  frozen Tyson's chicken balls, store bought vegetable plastic trays, hummus and pita bread and melted Costco dessert trays.  She didn't even stick around to setup and serve.  Fortunately this women went out of business.  I have absolutely no sympathy there.  I went bridezilla on her, there are only a handful of times that I have let loose on someone I barely knew.  She didn't just rob me, she robbed our kids, $2,000.00 goes a long way. 

My Mom isn't in NY to do everything that I wouldn't have thought of doing (ironing table cloths.)  Fortunately we do have an awesome planner- Jen who came to us courtesy of South Slope Pediatrics.   Jen has been doing much of the heaving lifting.  We also got lucky with some awesome sponsors:  Every Life FoundationWestern Beef and ENT and Allergy Association We had lots of friends jump up and volunteer to help setup and work the event.  I'm watching Jonah watching Sunday morning cartoons, he's laughing his butt off and I can't help to laugh with him.  Jonah makes every minute of this worth it.  It's an honor really to be doing all of this work.  Yesterday was our friend Levi's 17th Birthday; the 30th of July is Jonah's 7th Birthday. This is why we work so hard... to see our kids celebrate another Birthday.

Jonah thinks our 'Luau at Lakeside' is a big work party, he has know idea that he's sick. :) The event itself is very kid friendly and it makes me nervous to drop Jonah into the middle of it.  I won't be giving a speech on the effects of Sanfilippo Syndrome and how it affects children like Jonah.  Not in front of Jonah's peers.  'We' as in Tim Burr and I created this quick one take video to inform the adults that are attending the event https://youtu.be/er5r2BzLHUo

One of our local neighborhood bloggers did a story about the event and did a really nice job on touching on our desire to protect Jonah but also raise awareness.  It's a double edged sword that we constantly struggle with. http://southslopenews.com/blog/kids/jonahs-just-begun-familys-tireless-journey-save-son

Julia Jenkins from the Every Life Foundation is coming out from California and will M.C. the event.  Julia will talk to the importance of driving the science through fundraising an influencing our legislators to pass bills that will help expedite clinical trials.  I hope the takeaway will be that everyday people can be heroes and help save lives and change legislation.

 For those of you who follow to keep up with the science I want to share this recent paper with you.  It's absolutely amazing.  A study to learn about retina pigmatosa, lead to a discovery that a few retinis pigmatosis patients actually had the disease because they had MPSIIIC mutations, but were for the most part asymptomatic of Sanfilippo disease, the only Sanfilippo symptom they had is retinis pigmatosis!  Their mutations are so mild, that they lead normal lives.  This article will hopefully help us understand the amount of enzyme that an MPSIIIC patient can live off of without having the disease.  Jeremy and I are both carriers, theoretically we're  creating 50% of the enzyme HGSNT and we're fine (well that might be debatable, I definitely have behavioral issues and Jeremy is really hairy)...  But these patients actually have two copies of the mutation  and their cognitively healthy.  This is huge!  I can't wait to find out more!!! http://www.ncbi.nlm.nih.gov/pubmed/25859010

On a side note, we just had Jonah's annual physical exam and he didn't do well on his visual exam. :( I was really surprised that he couldn't read the letters, he could last year.  I immediately made an appointment to see our optometrist. I received this paper just a few days ago.  Fingers crossed.... that Jonah isn't suffering from RP, but something is up.

Hope to see all our locals at the Luau.  Don't be the last person to buy your ticket! http://bit.ly/Luau4JJB

Wednesday, July 8, 2015

Game On!



The 26th was Jonah’s last day of first grade!!  This milestone is a reminder to us that Jonah is getting older and we still don’t have a treatment to halt the disease.  Believe it or not on his last day, I wasn’t overcome by fear, depression and panic.  Jeremy and I are both very much aware of what we’re facing and despite that we were happy.  Happy for ourselves and very proud of Jonah. Jonah is beating his fate.  Ok so he failed every subject, but he’s still actively learning!  Jonah appears to be getting better rather then worse.  His health is better, his behavior is much better, he shows a great interest in math and reading but hates writing.  He’s a social butterfly.  Five years ago when we received the diagnosis, we were informed that Jonah would have profound brain damage by the age of 7.




On Thursday, Jonah and I were at the playground until the sun went down.  Jonah had hooked up with a couple of school mates and the three of them joined in on another families game.  I had never seen these kids before, the dad was teaching them the rules to a hand ball game. All the kids but Jonah listened intently to the instructions.  Jonah stood back and picked his fingers staring off into space.  I wish I knew where his mind goes when he does that. When the game began, Jonah eagerly awaited his turn.  Not knowing what it was he was supposed to do, he fumbled through his play.  The dad patiently walked Jonah through the rules again. Yes!  Go stranger dad!

The new families mom showed up, I knew the women but couldn’t place her.  She sat down next to me and asked how we were doing.  Her shirt had the logo of Jonah’s camp on it and I remembered, who she was.  She said: “I hear Jonah is coming to camp again next year?!” 

My stomach cringed, this is the lady that had a sit down with me about Jonah’s behavior, last summer.  I wanted to run and hide.   Jonah had had a couple of really bad temper tantrums at camp, that threw everyone off their game.  I braced myself for an awkward conversation.

She surprised me by saying that she pulled Jonah’s camp leader from last year and brought him up to the older kids camp so that he could be with Jonah again.  I just about burst into tears, I was so grateful, not everyone gets it-she did.

In Jonah’s defense, the temper tantrum that really rocked their world was at Adventurer Land.  My bad, when I saw on their schedule  that they were going to Adventurer Land, I didn’t know what it was and I didn’t look it up (lesson learned). After the ‘episode’ Jeremy and I went there with Jonah.  When we saw the place, we shook our heads... Oh man- this is crack central for Jonah.  A mini amusement park for little kids. Jonah of course did not want to leave the amusement park, it was time to go, they were on a schedule and Jonah had gone boneless on them.  They can’t physically pick a child up and throw them into the bus (as I would have.)  Everyone there would have whipped out their Iphones and recorded the event. They had to wait out Jonah’s temper tantrum.

Jonah is going to rock this year at camp!  I’m not even slightly nervous about it.  Last year I worried all day, I jumped when the phone rang.  Assuming the worst.  I doubt I’ll get any calls this summer.

The director commented that Jonah looked healthy and happy.

Jonah is progressing forward, we see no signs of regression. Why? Why, is Jonah doing so well?!  We don’t know exactly and we will probably never know.  Maybe the ‘novel’ mutation that Jeremy passed on is doing something that we don’t understand.  Jeremy’s mutation has never been reported before.  That isn’t as esoteric as it sounds, the ability to identify these mutations is a new technology.  The mutation that I passed onto Jonah is well documented and is considered mild.  Maybe the genistein is helping.... Most certainly Jonah’s early diagnosis has played an integral role in Jonah’s case.  When Jonah was first diagnosed one of our geneticists said: “Jill, Jeremy, do you think you can tread water for awhile?”

We’re still treading water, but we can now see land. Our first treatment (gene therapy) is $750,000 away from going to trial.  The faster we can raise the capital the faster Jonah will get his ‘forever fix.’  At this point money is the only thing standing in our way.

JJB and South Slope Pediatrics are in fundraiser mania mode right now!  Seems that everyone is out of town, but we’re committed to pulling off the coolest gig at LeFrak that anyone has yet to have seen.  Get your tickets now! PURCHASE TICKETS NOW The first person to purchase four tickets to the event will receive four complimentary tickets.  Just write in the subject line:  “heard it in Jill’s blog.”  Disclaimer:  you must be the first person to make that purchase!  We will be in contact to get the names of your four guests. If you try but don’t succeed to be the first person, we’ll let you know and give you a big ‘thanks for trying hug’ on the day of the event. Good luck!

Thursday, May 21, 2015

13 years young- Forever Evan

May 20th 2015 5:58 am.  Just a time and a date.  Evan was so much more then that.  The first time I talked to Evan's mom, she told me that she'd walk over hot coals for her son.  If I remember correctly, Evan was 8 at the time of his diagnosis.  He was happy and rambunctious.  It was hard for me to hear about Evan's antics- Jonah was two then and I mentally prepared myself for our future.  More importantly I was relieved to know that Evan was still full of heart, love and spirit.  July 18th Evan will have been 14 and Jonah will be 7 on the 30th of July.   It's impossible for us to deny what could happen to Jonah over the course of five years.  

Five years, that's the amount of time I told myself that we'd need to have a treatment by.  May 6th was mine and Jeremy's eighth year anniversary.  May 11th 2010 we received Jonah's diagnosis, May 15th is MPS awareness day and May 20th Evan passed away.  Mia would have been 21 today.  I tell myself that they are all just dates- not fate.  I know the clock is ticking for Jonah and our time is running out.   A week ago today, Evan's parents took him to the ER suspect of pneumonia, they took x-rays and indeed Evan had pneumonia, but they also got a glimpse of Evan's hips.  His hips had deteriorated, yet he was still walking... The doctor remarked that he'd only expect to see something like this on a 90 year old man. 

We have been putting off the major exams for Jonah, waiting for the MPSIIIC and D Natural History Study to start.   Not wanting to have to put Jonah through the battery of invasive testing more then we have to.  Now I wonder.... what else could we be missing?!  A few months ago I got anxious about Jonah's liver, his belly was like a big swollen balloon.  I took him in and we got the blood work done.  It took four of us to hold Jonah down. He sat on my lap, my legs wrapped around his and my arms around his chest.  Two more nurses held his arms down while the fourth nurse pulled the blood.  Jonah was foaming at the mouth, kicking and screaming, seriously it was as if he thought he was sitting in an electric chair.   Jonah is almost seven and pushing 60 pounds, my body ached for days. I have no idea how we're going to get blood from him when he's 100 pounds.  Anyhow his liver results were not perfect, but not awful.  The GI doctor wanted to repeat bloods in a month. I talked it over with our geneticists, we agreed to let it ride.  His blood work did not indicate that he was in danger, an infection of any sort could cause elevated liver enzyme levels and lowered white blood cell count.  Jonah is continuously  fighting a cold.  I had the results and I was actually relieved.  I just can't put Jonah through the monthly tests.  We will do the blood work again this summer.

Jonah has bone deformities: vertebra and rib cage, at least two more of our  MPSIIIC friends have hip issues too.  I'm fully aware that Jonah could too, however I'm not rushing him to the doctor. Today Jonah is on a field trip with his class and Jeremy got to chaperone.  They are out at the New York Met's stadium and that's exactly where Jonah should be today.

Make a treatment happen.  Jonah continues to have a good chance to fight his fate.
https://www.crowdrise.com/SSP-MPS-JJB

Forever Evan.  We fight in your memory.



Wednesday, April 29, 2015

A double life

A double life

A friend of ours asked why I hadn’t put out a JJB blog in awhile. For those that don’t know- I live a double life,  bouncing from non profit medical research foundation to virtual biotech.  The last few months have been all about Phoenix Nest. Contracts, lawyers and grants- mind numbing stuff.  I don’t know what’s worse... reading over a sub-licensing agreement or trying to absorb the science in a research paper.  Mari has taken the lead with JJB. Meanwhile I take conference calls and pretend like I know what I’m doing.  I love Mari’s motto: “fake it until you make it.”  She’s so supportive.

Are you trying to imagine what I do as the CFO of a virtual biotech?  It’s mostly administrative stuff.  For instance, I manage the one grant that we have won so far.  PN’s scientists out in California orders research supplies, I review and approve these purchases, transfer the funds,  file the invoices and balance the checkbook.   Sounds like fun right?!  Sean does all the hard stuff, like traveling and setting up meetings. 

Sean has also been burning the midnight oil- writing grants.  We have submitted one of our grants 4 different times now.  The first three times, the reviewers made suggestions, we addressed their suggestions, then re-submitted.  Each time you submit a grant, it’s most likely a different team of reviewers, so what one group thinks might not be the same as the second review group.  It’s extremely frustrating.  The 4th time the grant came back with a score, albeit a low score, reading through the comments made my blood boil.   It was as if one of the reviewers hadn’t even read the grant. This time around Sean and I asked for a teleconference with the director.  We pleaded our case; the conversation went well, she understood and agreed with our grievances and is now taking our grant back to the table.  I have been warned that nobody ever wins a rebuttal.

PN is doing well.  I wish I could share with everyone our accomplishments. Another good saying "Loose lips sink ships."  So when you wonder why I haven’t blogged... I can’t justify boring everyone to death with legal speak, when I can’t even share the good stuff.

JJB is way more exciting and Mari’s been having all the fun.  Jonny Lee Miller is running  the Bear Mountain challenge again, 50 freaking miles (May 2nd)!  Mari, Jonny’s assistant, and crowdrise have been working together to create an awesome campaign.  https://www.crowdrise.com/jonny

The people at crowdrise are the best.  They came up with a bunch of suggestions of what we might be able to do for prizes.  Most of the suggestions were geared around Elementary.  Jonny and I were going through the list brainstorming what he might be able to get from set without having to go through a mound of CBS paperwork. Clothing was suggested and of course Sherlock’s socks jumped into my mind.  Like Ben, I’m obsessed with funky socks.   Jonny was like: “Yay man I can totally get Sherlock socks!”
Jonah home today sick, but some funny Sherlock socks cheered him up!


Yesterday I woke up to find a clear bag of socks on the table.  I just stared at the bright colored patterns, I thought Jeremy had gone shopping for Jonah on his lunch break. I hadn’t had my caffeine yet and didn’t realize that they were socks.  I pulled a pair out and started laughing. “Sherlock Socks” -hysterical.   Seriously, these socks are a must have!  We also have autographed posters, one of which is signed by the entire cast! Then we have an autographed chair back. Elementary wrapped yesterday.  The prizes will be perfect for the Elementary fans that will be jonesing for an Elementary fix.


FB Banner for your Home Page, grab it and help us raise awareness!
On the 28th Jonny appeared on the LIVE with Kelly and Michael show and on CBSN.com!  Our very own NY CBS anchor and JJB supporter, Kristine Johnson interviewed Jonny.

We raised close to $4,000.00 yesterday. On the 30th he’ll be on the Rachel Ray show. Rachel Ray made a $5,000.00 donation to JJB last week!!!!  She must have been quite moved by what Jonny told her.

Jonny NEVER ceases to amaze me, his knowledge of Sanfilippo is awesome, he sounds like a parent.  From the science to the compassion. We’re so lucky that Jonny gets it, not a lot of people are able to put themselves in our shoes, Jonny has.  He knows how close we are to a treatment, he’s got the will power and is determined to see our gene therapy go to trial too.  We’re in the home stretch now, for the last testing we need close to $750,000.  The number seems unreal to me, just a number.   We’ll do it, we have to do it failure is not an option.

FYI Oakley just donated another case of sunglasses in sponsorship for Jonny’s run.  You can get a pair of super cool glasses at a huge discount on our ebay giving works page.

http://givingworks.ebay.com/charity-auctions/charity/jonah-s-just-begun-foundation-to-cure-sanfilippo-inc/49803/

This month we were surprised and delighted by all the fundraisers that our friends held for JJB.  Our biggest fan in Germany ran her first half marathon for JJB!  Allison hosted a painting party for her Bday. Ms. Bucknel incorporated JJB into her schools spirit week. Jonah and I skyped with Ms. Bucknell’s school- when Jonah and I came into focus on their screen the school cheered. I was blown away by the energy of the kids. Jonah loved it too, the kids raised their hands to ask Jonah questions like...  “What’s your favorite color, favorite cartoon, animal? “  All questions that Jonah likes to discuss.   These fundraisers collectively raised over $2,000.00. 

I had an event planning meeting with South Slope Pediatrics this week. SSP is planning a kids day for JJB, the tentative date is July 18th, Brooklynites watch this space. I have been thinking about MPS awareness day and what JJB could do.  I asked something of Dr. Cao that was so outrageous, my face turned beat red, just asking him. I was inspired by Ms Bucknel’s school spirit week, where the kids paid to humiliate their teachers.  There was: leg waxing, body tattoos with sharpies, hair cutting,  egg throwing etc. All good stuff. 

Dr. Cao has agreed to dress up as either Elsa or a Teenage Mutant Ninja turtle and stroll down 5th ave. to our neighborhood grocery store. His patients will have a month to vote on the costume to be worn. Dr. Cao has been an absolute angel to JJB and this is how I repay him....  I feel kinda guilty but the image of him dressed up as Elsa overrides my guilt. He’s such a good sport! 

MPS awareness Day is May 15th and we’re asking you to wear your purple! 

One last thing- for our Brooklyn peeps, on May 30th JJB will have a table at PS10’s S.T.E.A.M. Maker Fair (Art meets science)  We’ll be making DNA bracelets, hosting a purple lemonade stand and selling JJB totes. Come out and see us!

Support our ongoing fundraisers: 
Jonny Lee Miller’s 50 miler 
Jennifer’s B.Day Wish.  
You can also create your own Purple Lemonade Stand- like Blue Barn Living is doing for MPS Awareness Day, May 15th!
https://www.crowdrise.com/jonahsjustbegunfound#projects

Coming soon Dr. Cao’s MPS awareness Day crowdrise page


Thursday, March 19, 2015

My question is: How will you do it?




Friday February 27th I spoke at the National Institute of Health (NIH) for their Rare Disease Day (RDD) event. I was asked to tell people about my family, why we created JJB then Phoenix Nest.  There were a few hundred people in attendance, heavy on patient advocates. The NIH RDD speakers and panelists. My panel is about an hour into it.

The NIH-RDD is the last event of the week long RDD calendar.  For the rare disease advocate, RDD is like Christmas, minus the unwrapping of gifts.  The only gift we want is the gift of life, anyways.

There were three questions that kept being asked.
1. How did you find the scientists?
2. How do you work with the other foundations?
3. How do you do it?

#1 How did you find the scientists?
I’ll hold your hand here and break it down. First go here. http://www.ncbi.nlm.nih.gov/pubmed  Then search your syndrome, example: Sanfilippo Syndrome type C.  Hopefully you’ll pull up a number of publications. This is my example for JJB’s disease.
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV.
Brain.   (FYI that’s a good journal) 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6.

The last author of the paper is the primary investigator (PI).  Now google that person, if they look reputable call him/her. FYI there good and bad scientific journals.  If you are lucky enough to have a ton of articles on your disease, ignore the outdated ones and those published in “bad” journals.   Now call your scientist! Ask what he/she is up to and if they’d be willing to continue the research for your disease. 

I called Alexey and that’s how it all started.  This particular paper is Alexey’s most recent, check out the acknowledgements.  More importantly understanding the mechanism of the disease in our mouse model, opened up the door for new treatments.

#2 How do you work with other foundations in the same space as yours?   Whom are not on the same page?

It never even occurred to me to partner up with another pre-existing foundation.  When Jonah was diagnosed I went out of my mind, I’m not joking, I was in a fit of rage, that’s the only way to describe myself. I HAD TO LIFT THE BUS OF MY CHILD!  I’d never trust a stranger to save my son’s life. You also have to note that there was no (at least published) science for type C at the time of  Jonah’s dx.  If there was an arm that was driving the science for type C, I probably would have jumped on board.  Today JJB works side be side with several Sanfilippo organizations. H.A.N.D.S.

Remember back in school when your professor made you work on a team project, to prepare you for your future job?  There was always a slacker on your team, or the asshole who said ‘no’ to everything but didn’t have any of his own good ideas.
                                                                                              
Unless you can hand pick your team, then you’re stuck with whats given to you. In my past life I managed retail stores,  when I started a new job, the first thing I did was to get to know the staff and then cut the dead weight. My key to success has been to recruit the best employees from my previous company to my new company.                                                                                             

Jonah was (is) dying I didn’t have time nor the patients to deal with any ‘dead weight’.  So I built my own team.  FYI fundraising is really hard, it’s time consuming and mentally draining. The thought of handing over those hard earned dollars to strangers, to allocate in a way they saw fit was not an option for me.   I don’t have much respect for those that don’t get out there and get dirty, and then expect you to get in line and hand over your hard earned proceeds.

There are patient group organizations and then there are medical research foundations, JJB and our consortium H.A.N.D.S. is a medical research foundation.  We raise funds for science, not for patient outreach programs.  I don’t think that this distinction has been clearly made.  Small medical research foundations are often referred to as “splinter” groups.  Which sounds derogatory, I think that the patient organizations and medical research foundations go hand in hand.  And there is definitely a way you can build that bridge between your parent organization and your new medical research organization.
                        
If creating your own foundation is not an option for you and you still don’t like what the parent organization is doing.  Then be a survivor, get yourself voted onto the BOD, then carefully and quietly maneuver yourself into a position to remove the dead weight and recruit fresh and innovative doers to join the board. Get creative, most of this is about the politics.

#3 How do you do it? 

I thought I had gotten past this question. People think I’m special, because I took action. I’m not special, Jonah is what makes me special. After I spoke- a man came up to me and asked me:  “How do you do it.”   I told him that I was fortunate enough to be in the position to work full time at driving the science.  He said; "no"  “How do you mentally manage it?”  That's an entirely different question.

He said: “It’s been eight years and I’m still struggling with the day to day.”  I asked him about his son, he said his boy is not in good shape, seizures, profound brain damage, blind, completely dependent on someone else to care for him. 

I opened my presentation with getting the news that Jonah had been diagnosed with a fatal disease.  I referred to the day as “ground zero.”  The Dad said to me “I know what ground zero feels like.”  Then he broke into tears....  Another Mom told me she cried straight for three years, she didn’t leave the house, she couldn’t even get out of bed some days.

Too many people think I’m a super mom, I’m not.  I don’t even come close to the families that are in much dire situations then we are in.  In my presentation I  failed to mention to the audience that Jonah is in good health and is still very high functioning, I should have clarified that.  I wouldn’t be able “to do it” if  Jonah was having five - fifty seizures a day. At that point one parent has to stay home with their child.  Some families are lucky enough to have live in help and nurses, but not everyone has good insurance and access to those resources.

So to answer that question of,  How do I mentally cope?  Therapy and anti-depressants. 
 I remember that first year of dx, ground zero.  In the fetal position crying, hyperventilating, on the verge of a nervous breakdown.  Life was unbearable. I got help.  That’s how I cope.

Parents of very sick children, have to give their kids countless  daily meds, many children undergo surgery after surgery and even chemo, immunosurpression etc.  The gene therapy that we’re funding  will most likely be administered by means of drilling six burrough holes into his skull and injecting a virus into his brain that will distribute the missing enzyme.  Seriously, if you’re willing to go through these great lengths to give your child a quality of life.  Then do yourself a favor and pop a pill, for your own quality of life.

This is why I do it.  A mother just recently wrote me this message, she’s waiting on the dx of her son and newborn.   She said this:

I don't know why I wrote to you, other than to thank you for posting things that give me hope as my distraught brain trolls websites and facebook, praying that this is all a nightmare that I can wake up from. I guess i just wanted to talk to someone who knew the depths of Hell my soul is currently in. My friends and family want to be supportive, but they just can't understand my despair right now. Your son is beautiful and his smile gives me hope. - A newly dx’d Sanfilippo Mom

Do this for me, for those of you who pray, pray that her baby is also not affected.  For those of you who can do something do something.  But don’t read this and say: “Thank God this isn’t my life.”

February is a big month for me, kinda like Christmas.  I went to WORLD earlier in the month.  Two years ago at WORLD, a genetic counselor found me and told me that she had just diagnosed a young boy Abdullah and his baby sister,  Khola.  I cried, I so desperately hoped that we could save them.  Two years later and Khola still has a real shot at walking away from this disease.  For her older brother the clock is ticking faster.  We need every able person to help us save our kids. Donate Now


Khola

Abdullah

This blog is dedicated to Logan, he passed gently in his mothers arms, surrounded by his loved ones. March 14th, 2015 RIP

Thursday, January 8, 2015

Staring fear in the face.



I suppose it’s time to face my fears. I realize now by working my brain into a grave that I have been running from Sanfilippo and my fear that it will take Jonah.  It’s time that I turn around and stare Sanfilippo down.  You’re not taking my kid.

I look at Jonah and I see all the way to his soul. I love every bit of him.  Sanfilippo is part of him it’s written in his DNA.  So does that mean I love Sanfilippo too? I can’t.  So I plan (with my scientists doing all the work) on rewriting his DNA and separating out the Sanfilippo, just the part that’s killing him.  Like ripping off the morning-glory that has wrapped itself around and around my beautiful flower, chocking the life out of it. I want to see my flower grow and bloom without the weed cutting his life short.

It’s a relief thinking I can do that, but can I?  I spend half of the weekend working, sending Jeremy out with Jonah so that I can try and get a head start on the week ahead. Jonah is used to our weekend routine, but Jeremy isn’t, he’s much braver then I am.  Jeremy can play and play and play with Jonah, he looks past the diagnosis and lives in the present.  I on the other hand am obsessed with the future.

Everyone says: “Oh Jill you’re so brave.”  But I’m not, I’m scared beyond belief.  Every moment I do something for myself I feel ashamed that I’m not working to save our children’s lives. It’s a constant battle.  On days that I’m happy, I ask myself is it ok to be happy? Am I allowed to be happy? Something feels wrong, my son is dying, I should never be happy.  My realization, Jonah want’s me to be happy, he wants all of us to be high on life!  I’m thinking I should go ahead and let myself be happy- when I feel happy.  I will try it more often.

Writing is actually one of the things that I do to take a moment for myself.  I feel better this month, last month was awful, Jonah was out of his mind. Throwing major temper tantrums, his teacher said he’d go on for 20 minutes. Twenty minutes is a long time.  So we got rid of the Pad and increased his dosage of Vyvanse.  We have set new routines for after school- snack, homework, dinner, choice time, story time and off to bed. The evenings run so much more smoothly without the damn I-pad and Jonah’s behavior has improved substantially. Writing this and I’m scared that I’ll jinx it.

I’m bracing myself for February, the toughest month of my year. The one conference that I really can’t miss is WORLD, which happens over Valentines week. Then we have Rare Disease Day, which really lasts a week.  We work with the RDLA and camp out on Capital Hill, lobbying for rare disease initiatives.  JJB used to have fundraisers in February, but something had to be cut from my schedule. Instead JJB has been leaning on our Holiday Remit drive. Which didn’t go so hot this year. :(  I’m not gonna fret.  Moving on.

I’m really looking forward to rare disease day.  No, I don’t plan on Jonny coming with me to D.C.  He just came to D.C. with me to the EveryLife Foundations, Rare Voice Award ceremony and gala. Plus he came last year and bent the ear of our state legislators.  This year, I was asked to speak at the NIH RDD summit, I’ll be speaking about my personal transition from creating JJB to founding Phoenix Nest. A few weeks ago an article came out in the WSJ, about the same topic... Parents creating their own biotech’s. I had been interviewed for the feature piece months ago, I was really anxious for it to come out.  I was surprised and a little disappointed when my hour interview was cut to one quote.  I assume my version of the road from non-profit to for-profit didn’t meet the editors of the WSJ’s vision. Next month when I talk live to a room full of advocates, bio industry leaders, NIH and FDA officials, I will be given the platform to tell the truth, uncensored and unedited. I can’t wait.  I’m smiling right now.

I want to give all of Jonny’s fans something to smile about too.  JLM’s fans, the Elementary crew and especially the directors, carried our Holiday Remit fundraiser. Thank’s so much for your support and generosity!  So here’s a scene to envision.  A while back I meet with Jonny and Kristine for lunch- to discuss our next gig.  I got there early and took a seat at the bar.  It was a nice, classy old-school restaurant.  I ordered a drink and got to work.  The door opened and the afternoon sun broke through, a man stood in the entry, he was silhouetted by the sun, he took off his sunglasses and scanned the room.  He looked like a gunslinger, entering a saloon ready to kick some ass. His sunglasses were wicked cool, he was sharp and lean. He took off his glasses and scanned the room, looking for me. He saw me and I thought, wow this guy would make a great James Bond. We took our table and started talking about JJB’s agenda.  The End.

This blog is dedicated to Shannon 1993- December, 21st 2014 and Hunter 1999- January 7th 2015.