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 Foundation,  Western 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

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!

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.

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

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

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. 

Just say No!

The prologue: 
3.) Crowdrise: Crowdrise is a charity fundraising site.  From now until December 31st, they are giving out several cash prizes.  December 16th, is a special contest day, the charity that receives the MOST donations of any denomination will receive $10,000!  The catch do not donate until 2:00pm ET on the 16th, that’s when the contest starts. That’s 11:00am on the West Coast and 7:00pm for most of Europe. You can make your donation(s) from the 16th-23rd.  If you’re reading this on the 16th after 2:00pm ET, go here now and donate ANY amount! Please. :)
http://bit.ly/jjbnycure
Do I sound bossy?  If so it's just Jonah rubbing off on me.


The Blog:

Just say No!  My new motto and let me tell you saying NO is empowering!  Say NO to Jonah's I-pad say and just say NO to running myself ragged.
  
Every Monday I wake up ready to storm the castle. By Wednesday my plate fill’s up with tasks that weren’t on my current week to-do list.   By Friday I’m close to a nervous breakdown.

Over the weekend I bang out the items that I started the week out with.  Jeremy takes Jonah on all day outings so I can clear my plate, just to start over again on Monday.  This is no way to live.  I tell myself everyday it’s going to get better.  But the reality is...  it’s only going to get worse, by that I mostly mean busier. Jonah’s progression is a different kind of busy. :(

Jonah has been having a really hard time at school.  Throwing 20 minute temper-tantrums, hiding under the desk, foaming at the mouth. When he’s not loosing it, he’s playing class clown, tickling his friends, making jokes, farting and laughing. Disrupting everyone else.

We’ve once again been thrown into panic mode. At Jonah’s recent psychiatric appointment, I let him bring the I pad. He watched it while the doctor and I talked.  I told the doctor how awful the I pad was, for all of us.  It’s a double edged sword, great for when I need to make an important phone call or respond to an email.  Then when I’m ready to play with him, I can’t get him to turn it off.   The doctor, point blank said: “Get rid of it.”  He went on to say- that even for a typical child, the electronics are over stimulating.  The electronics cause a child to loose their focus, their attention span goes out the window.  Everything else just seems boring compared to the Pad. So I devised a plan to get rid of the it.

On the train ride home, I let Jonah watch the I pad for the last time.  When we got to our stop and Jonah rushed out the door, the I-Pad "accidentally on purpose" got left on the train (I snuck it in my backpack while he wasn’t looking.)  You should have seen the look on his face, when he discovered that the I Pad was not in my backpack.  It was as if everything that he knew and loved vanished from his life.  We had to call the police and ask them to search every F train (I called Jeremy.)  Jonah waited by the door for a few hours hoping that the police would come with his Pad.  The police i.e. Jeremy finally called, they looked and looked but didn’t find it. 

Jonah is still in morning, but it’s really not that bad.  He tells me once or twice a day that he wants the police to catch the bad guy that took his I pad and throw him in jail.  The next day at pickup, his teachers eyes were as big as saucers, she said that Jonah had had a great day! No temper-tantrums and almost perfect focus.  FYI we also up’d his dosage of Vyvanse.  At home the temper-tantrums have gone from a raging boil to a little simmer.  I'm so so happy, knock on wood he's stabilized.

Our gene therapy trial is not far off now.  We’re moving into the last stage of testing, we will be looking at dosage and toxicology this Winter.  For the squeamish I won’t describe what that entails.  JJB and our HANDS consortium will need to raise an estimated $500,000 over the next year, to support this last phase before trial.  We’re then hoping that we will win a grant to cover the expenses of the clinical trial.  This year three children were diagnosed: a baby, a 1 year old and a two year old. I think we will save these babies...  think on that. Profound isn't it.

So how are we going to raise this $500,000?!  Hmm, well I hope that JJB can raise $300,000 this coming year and hopefully our 4 other HANDS foundations can raise the other $300,000. Sounds doable right!  I have faith that our supporters will help us make it happen, you all haven’t let us down yet. Now we’re in the home stretch! 

Right now, JJB is focusing on a few online contests and we’re building our virtual stores.    We need everyone to help in getting the word out.


Here's a list, get involved.  Cut & Paste, share with your people.

1.) Amazon Smile: Instead of using Amazon, use Amazon Smile, it’s the same thing. Go here /https://org.amazon.com/ and select Jonah’s Just Begun.  Every time you shop, JJB receives a small portion of the sales. It all adds up!

2.)  eBay Giving Works: Right now until the end of the month you can opt to “follow” JJB on eBay Giving Works.  If JJB has the most “new” followers then we can win $10,000!  Follow us now ebay.to/HMUigv  

3.) Crowdrise: Crowdrise is a charity fundraising site.  From now until December 31st, they are giving out several cash prizes.  December 16th, is a special contest day, the charity that receives the MOST donations of ANY DENOMINATION will receive $10,000!  The catch do not donate until 2:00pm ET on the 16th, that’s when the contest starts. That’s 11:00am on the West Coast and 7:00pm for most of Europe. You can make your donation(s) from the 16th-23rd.  If you’re reading this and it’s past 2:00pm on the 16th-23rd, go donate any amount, please. :)  http://bit.ly/jjbnycure

4.) Etsy:  We have lots of fun gifts on our Etsy site.  All the products have been generously donated from friends and families.  We’re having a super Holiday sale now. Check it out.  These gifts keep on giving, your purchase supports life saving medical research.https://www.etsy.com/shop/JonahsJustBegun?ref=em

One day soon babies born with MPSIIIC will live, because of your generous donations made now.  Please pass these links onto all of your friends and families.

In other news.  Did you know that Jonny Lee Miller joined me and a few 100 other patient advocates in Washington D.C.?  Yup that’s right, on October 16th, Jonny joined us at the EveryLife Foundations: “Rare Voice Award” ceremony. Jonny had the special pleasure of passing out the beautiful and symbolic “Abbey” award to members of congress and families affected by rare diseases.  These individuals were honored for going above and beyond, to change legislation that focus’s on: treatments for rare diseases, newborn screening and support for families affected by a rare disease. 

Jonny was visibly moved by these individual stories and heroic efforts to make the world a better place. In turn we honored Jonny for his efforts to persuade our countries legislators to take notice of our plight and to help us in our fight.  Last February on rare disease day, Jonny spoke at a rare disease caucus briefing on the importance of supporting legislation that would lead to treatments. You can watch his passionate speech here. https://www.youtube.com/watch?v=jjW8grqwT-c&list=UUL155EYAyLhYiPe-a1PbXTwhttps://www.youtube.com/watch?v=jjW8grqwT-c&list=UUL155EYAyLhYiPe-a1PbXTw

Jonny turned to me and said: “ He didn’t feel worthy of such an honor, after hearing and seeing the accomplishments of the other award winners.”

I assured Jonny that he did.  I'm not sure if it fell on deaf ears or not.

Jonny has bent over backwards to help our cause.  It’s not easy for a working celebrity to take time off during a shooting season. Jonny has: prepared speeches, listened to our community, educated himself on rare diseases, implored congress members to help us and he has done it all out of compassion for those suffering from horrific syndromes, like Jonah’s.  His selflessness is not something that many individuals posses.  Not to mention the fact that he has ran 100’s of miles to raise funds for our research.  He has also taken time out of his busy schedule to appear on several news segments.  See for yourself, a montage of Jonny as a rare disease advocate. https://www.youtube.com/watch?v=xF5RLaFQr3Q&list=UUL155EYAyLhYiPe-a1PbXTw

Jonny had to leave right after the ceremony, he took the last train home so that he could get to work in the morning. Almost everyone at the gala came up to me to tell me how appreciative they were to have Jonny standing up for them.  They were in awe that he came and very much moved by Jonny’s obvious conviction to helping our cause. It was a really very special evening and I wish Jonny could have heard their thanks.

Happy Holidays everyone and thanks so much for all of your generous Holiday Remit donations. I breathe easier finding our P.O. BOX filled with donations. With your help we will be able to do this. #anythingispossiblebytheway