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

I went there today, don't hate me.

Read this with an open mind. In other words please do not take offense, my goal today is to raise awareness.

A few years ago you may remember JJB running in the ‘Chase Community Giving Challenge’.  It was a voting contest and the winner’s shared a pot of money, there were five payout levels.  JJB was in the 4th level and we won $20,000.  There were 50 foundations that won $20,000 each. JJB competed alongside the Bunny World Foundation and the Bat Conservation International Inc. etc.  The Lucky Dog Rescue Foundation won $100,000.  There were 35 competitor’s that took home $50,000 each.  Of those 35, 10 of them were animal rescue foundations.

I just can’t shake the feeling of indignity of these popularity contests.  Can I compare my son’s life to a bunny? No way. I don’t blame these foundations, the bunny’s need love too. But what does it say about our society? People blindly voting for frogs, when they could be voting for foundations, that are raising funds to create treatments for fatal pediatric diseases like Sanfilippo Syndrome.  Most people just don’t realize that there are 7,000 rare diseases, 50% of those diseases affect children and 1/3 of those children won’t live past the age of 5 years old. Furthermore there are less then 300 approved treatments for the 7,000 rare diseases.

My family is very fortunate that our friends and family get it. I personally have several good friends that are serious animal rights activists.  By knowing my family they have been educated on these stats.  They’re out there right now, rescuing animals and working hard to raise awareness about rare diseases. (thank you!)

How do we educate our entire society and make them aware that our kids are needlessly dying?  This is a question that haunts me.

 So when I saw the opportunity to work with a marketing firm that creates strategic campaigns for companies, I took it. This opportunity comes in the form of another voting contest. There are only 24 other not for profits competing in the voting contest.  We’re competing for $35,000 worth of free marketing advice and services from PM&CO.  I figured this would be a slam dunk for JJB.  But guess what?!  At this moment the prize is going to the dogs. You can vote here for Jonah’s Just Begun, scroll to the bottom to find our video. Please vote everyday until the 30th, you can vote from all your devices too.  http://bit.ly/win4jjb

Our society doesn’t put pictures of our sick children out in the media or sponsor infomercials depicting children dying of rare diseases. I agree... that would be in poor taste. But again I ask you how do we get the world to see what’s happening?


This article was in the Huffington post a few days http://m.huffpost.com/us/entry/6122368  The title: Girl, 11 Dogs Rescued From 'Horrendous Conditions' (GRAPHIC PHOTOS)  It is absolutely horrendous! 

There is a poor blind three legged dog covered in matted poop.  We don’t see a picture of the rescued little girl.  We know nothing about her. Look at the pictures of the home that the girl lived in with the 11 dogs. It will enrage you.   But what about the girl?  Do you wonder how she is?  Her identity is protected, but I bet if you saw her, you’d want to adopt her, love her and nurse her back to health.

Now if people could visualize an innocent child, blind and immobile, struck down by a horrendous disease.  He/She is unable to control their bowl movements- parents wake up to find their child laying in poop. This is the reality of more families then you could imagine. But you don’t see it.  Our society would never splash those images for public viewing. 

What can we do to raise more awareness.  I have one answer. So I’ll leave you on a very positive note.

Three words 1 person, Jonny Lee Miller!  Jonny is doing everything he can to help us raise awareness for rare diseases.  Jonny is joining us at the Rare Voice awards in DC,  Jonny will be raising his voice, to bring much needed attention to our plight.  This is just what the rare disease community needs, more public figures and celebrities to stand up for us.  Our families can’t reach the masses like Jonny can. FYI for an actor to take time off during a work week to do anything personal is almost impossible. Even taking a sick day is frowned upon.  Scenes have to be re-written the work of the entire cast and crew is disrupted.  Jonny pulled a lot of string to get the time to help us.  Jonny’s conviction to our cause will surely get peoples attention.  Watch for the announcements on our FB and twitter feed.  #anythingispossiblebytheway.  Meanwhile please vote  http://bit.ly/win4jjb  Vote for JJB everyday until the 30th.

Respectfully yours,
Jill

Celebrate Good Times!

I feel like celebrating, for once the rest of the summer is going to be smooth sailing (knock on wood).  All of JJB and PN’s major projects have worked themselves out.  I’m actually thinking of taking some time off!

Jonah has been doing very well, I just want to pinch myself I can hardly believe it.  He turned 6 last week and has no signs of regression.  Scholastically he’s not keeping up with his peers, his report card would have sent the ‘typical” parent into panic mode, but not us, Jeremy and I were giving each other high fives.  We have been grinning ear to ear this Summer.  Statistically Jonah should be down to just a few word sentences and not following any direction, running all over the place wrecking havoc wherever he goes.   Yet, he’s still sleeping soundly, he stops his scooter at street corners and walks through the intersections with me!  It’s absolutely amazing.  I’m not sure why we’re so lucky, I can attribute a lot of Jonah’s success to his early diagnosis, which gave us a chance to institute early intervention.  In case you haven’t heard this before... Dr. Cao is our HERO. 

Since 2012 when Jonah’s blood work came back with elevated enzyme levels in his liver, we have had him on genistein. Raquel, convinced me to put Jonah back on it, attributing the genistein to helping restore Joana’s elevated liver enzymes back to normal.  Jonah’s liver is now back to normal too... Ive discussed genistein lots of times in the past, so I won’t re-cap what it is, for more information go here. http://jonahsjustbegun.org/sanfilippo-clinical-trial-high-dose-oral-genistein-aglycone/ 

Recently the genistein trial hit a speed bump, after loosing a major donor.  Which has left our consortium scrambling to figure out how we can financially help keep the trial on track. 

If genestin is proven to be an effective treatment for Sanfilippo it would be able to go straight to the shelf, in the US genistein is FDA approved as a food supplement, women use it for menopause.  Jeremy and I were paying $500.000 for a month supply, insurance doesn’t cover it, recently we found a new pharmacy that would order it for us at a much less expensive price, $1,000 for about 3months.  Unfortunately the manufactures supply is now gone and they have not said if they will make more or not. 

Many parents would have me believe that I can attribute Jonah’s stability to the use of genistein, however I remain a skeptic and I want proof!  But even I can’t deny that for some reason Jonah is above and beyond where he “should” be.  In a few months we will be out of genistein.  What if Genistein is really helping our children? We have to find out!

Does this make sense?  We have paid $6,000 a year for almost three years for genistein thats $18,000 USD, my best guess estimation is that at least a 100 children in the US alone are taking genistein, that amounts to almost 2 million dollars spent on genestin over the last three years. The current trial is budgeted at 650,000£ and they will have results within 2 years.  If successful- genistein would immediately become an FDA approved drug for Sanfilippo and our insurance companies would have to cover it. We literally can't afford to see this trial fail.

The Purple Lemonade Stand, a fundraiser created by Grey, Blair’s (MPSIIIB) little sister. What started out as a cute neighborhood lemonade stand has turned into a STAND that raises tens of thousands of dollars over the summer season!  With the forthcoming gene therapy trial for type A and B coming up, the sanfilippo community is directing their focus to ensuring that this trial goes as planned.  MPSIII families are taking their fundraising efforts to a new level, pulling out all the stops. Check out “Team Nola’s” facebook page for some hysterical old school fundraising efforts.  For example, tying up a goat in your neighbors yard, making them donate to remove the goat....Hysterical!   FYI there isn’t any grass on our avenue....grass that grows in the FRONT lawn anyways.

JJB was asked to participate in the what is to be the Purple Lemonade Stand (PLS) phenomenon. If there is one thing I can get behind it’s an old school lemonade stand.  Brings back memories of when my sister and I would set up a lemonade stand on the 4th of July in front of our church, the stopping point of my towns annual fourth of July parade. Side point, by Brooklyn standards Willamina is more of a village then it is a town, it’s kind of like a park, but think half the size of Central Park i.e. Prospect Park, with more trees and squatters. Churches to bars remains equal. 

JJB hosted it’s first PLS over the 4th of July weekend on the Jersey Shore. Aga, our new intern lives in the neighborhood.  It was the perfect spot on the perfect day except for the fact that people don’t carry cash when going to sit on the beach, live and learn Regardless it was a lot of fun,  our stand was super cute and everyone that walked by stopped.  I stood by and answered question about “the charity”.  I remained incognito, I’m a sales person by trade and I know my stuff.  As long as nobody knows that my stuff is personal then I can sell it with a smile.

Then came our next PLS gig, in my own neighborhood. The perfect location- our neighborhood BID (Business Improvement District) program set numerous dates for street fair parties for the neighborhood.  BID shut down traffic between 6 blocks including our block, the vendors set up fun kid friendly stands in the street. Our neighbors came out to participate in the festivities. We danced and played in the street, fire hydrants were opened up for water play, restaurants brought tables out and served us. It was the perfect venue to introduce JJB to the neighborhood and raise funds by selling lemonade.  I backed out of participating.

I ask you... What would you think of a women a mother standing in the street asking for your change, to help save her son?  Then to realize that your child goes to the same school as her child, come to think of it you have met her at the playground where we talked about our kids.  Would you walk on by and pretend you didn’t see me?  Would you walk up to our stand and happily buy a cup of lemonade and drop a $20 in the donation jar?  Would you wonder... How does she stand on the street with a smile on her face and tell people that her son dying?  Is there something wrong about this scenerio?  For me it was unnerving so I called it off.  Next year, I hope to have volunteers (moms like me, minus the terminally sick child) out there representing JJB. 

Think about where you can set up a stand now: town picnic, fair, sporting event, at a stoop sale or garage sale or just on your street.  Last week Katie Couric interviewed Ed Norton (the creator of crowdrise)  Our Purple Lemonade Stand was featured at the very end of the interview!  It was referenced at how children can get involved in fundraising and supporting causes. Check out JJB's PLS crowdrise fundraiser, hit JJB’s profile and create your team now.







I’m dedicating this blog to three extraordinary women that fought for life and have been rewarded with a second chance.  My Aunt Barb had a massive heart attack last week, she stopped breathing for over half an hour, the EMT’s were on the verge of calling time of death.  Aunt Barb looked death in the eye and told him to KICK ROCKS!  Not even a week later and she’s on her way to what we think will be a full recovery!!! CELEBRATE LIFE!  To our dear family friend Carole, whom discovered her on very rare form of breast cancer, she insisted that her oncologist dig deeper when a mammogram showed nothing.  Weeks later Carole underwent a mastectomy and is now finishing up with chemotherapy.  You go Carole!  I saw a breast cancer T-shirt the other day and thought of you.  It said FIGHT LIKE A GIRL.  To my mom, who has lost over a ONE HUNDRED pounds and is looking forward to having the loose skin removed this fall.  A whole new body and leash on life. Awesome!  I’m so excited for her.  The other day a man in the Staples line struck up a conversation with me, he told me how he lost a 100 pounds with a lap band.  I told him about my Mom and he asked if she had a lap band or gastric bypass? As if these were the only ways to loose weight.  I said no, she lost it the old fashioned way.  He responded, oh yeah how’d she do it?  Um diet and exercise. He was SHOCKED!  I’m not even going to go there. Aunt Barb, Carole and Mom, I’m so glad you guys are going to be with us for many many more years, your children and grandchildren need you!

Aunt Barb and cousin April at Bunco fundraiser.

Carole on left was our auction table volunteer.

Our Mom on her way to dropping a 100 pounds!