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Sunday, July 16, 2017

Bring it on!


Bring it on... I'm waiting.

I have a wall of inspiration. It’s aggressive, powerful and motivating. It used to get me moving in the morning. Today I stood and stared at my to-do list; scribbled on the dry erase board.  Bored of it all. I just want my ultimate desire to come to fruition.

I’m waiting.  When you have something that is so heavily weighing on you, It’s hard to do anything else but wait. What do you do when you’re waiting? I feel like I'm sitting at the DMV office.  I can't wait to get the fuck out of here, but I need my license.

What do you do when you're waiting? I have already binge watched Breaking Bad and just finished King of Thrones. After several recommendations I tried watching Handmaids Tale, I hated the book.  I found the show to be even more annoying. Once an avid reader, I can’t even fathom picking up a book now. I’m getting my Phoenix tattoo colored in tonight, that’s another three hours killed. I got a tattoo of a chainsaw on my forearm last month. It makes me smile. For downtime these days, I chase Pokemon at the cemetery. 

I have been working... but it all feels like busy work.  I have a dozen or two irons in a ROARING fire, many others have been stoking it and I feel the heat.  It's good that  people keep probing me on and in return I probe the powers that be. I explain: "It's not just me!" 

I attempt to get excited about all the ‘small’ accomplishments that we have won.
We're here now, our accomplishments have added up.  A pharma employee commented on my last blog he said: "Wow! Congrats Jill! What amazing efforts - large companies would be hard-pressed to accomplish a fraction of this. You rock"

Once our drug goes to trial it will take a few years from trial-approval-commercialization. They call this 'bench to bedside' onto jumping the 'valley of death.' Sometimes your drug gets picked up immediately after FDA approval, other times it just sits there. No takers to bring your drug to commercialization, this is the valley of death.

Today I cleaned out all three of our AC units.... DISGUSTING! Meanwhile, Sean wrote me an abstract for a poster presentation for a conference in Brazil... Hey, at least I made a couple of edits and submitted it. I also had a couple of conference calls today and I followed up with my action items. I keep plugging my way along. Waiting for something awesome to happen. The enthusiasm for my B.day wish was a turn on and a break from the norm. Thank you all for donating!  Monster Mash will for sure be a blast and should turn my focus to this gig as it is uplifting. 

We just got home from the west coast visiting family.  The only overlap that Jeremy and Jonah both had off. I offered to go anywhere with them for vacation, Jeremy just stared at me. He responded calmly: “We’re not spending any money on an exotic vacation, because I know you won’t be able to stop yourself from working.”

This summer Jonah and I will be landing, taxing home, repacking and heading out again. 

I did well in Oregon, just a few breaks here and there on the computer and phone. We hiked the pacific trail, went to Seattle to visit the cousins, made smores, celebrated July 4th  with friends from NY doing the root 66 thing. Jeremy’s major goal was to canoe, my aunt granted that wish and brought down her canoe…  we all paddled up and down our river. Jonah did an awesome job and fully enjoyed himself. Jeremy found himself using some major clichés: “Jonah, don’t rock the boat.” “Jonah don’t drop the paddle, we’ll be up shit creek, without a paddle if you do.”

Jennifer and I leisurely paddled alongside them on our floaties. Scaring the schools of fish, freaking out the crawdads and annoying the cranes.  A red tail hawk made sure we knew he was there. 

 I’m back in Brooklyn working, Jeremy and Jonah are now upstate at the-in-laws. Elementary starts back up next week.  Jonah and I will be working the Canadian MPS family conference next week. We have a booth representing the ConnectMPS.org patient registry, I have a panel talk along with the esteemed Mark Dant and Elisabeth Linton. These are the folks that inspired Jeremy and I to follow the same path.

It’s an immense honor to be sitting side by side with my heroes and I’m really looking forward to it.  The Linton foundation SCRF, http://www.alifeforelisa.org/ is one of the three founding foundations for MPSIII.  SCRF gave funding to Alexey Pshezhetsky, before Jonah was dx’d wich allowed Alexey’s lab to find the affected spot on chromosome 8 that causes type C. We are forever in their debt. Sadly Elisa (pronounced Alyssa) passed away last November. The Abeona and BioMarin trials for MPSIII B had just started, Elisa was not eligible for the clinical trials. Trials that were inspired by Elisa and in part funded by SCRF foundation.  Mark Dant's son Ryan lived to see his parents crusade for a treatment come to fruition. Ryan’s treatment is not perfect and we still work for the silver bullet. In the mean time Ryan has graduated from college! Please watch this powerful episode and know that this could be Jonah’s future too. http://www.cnn.com/2017/05/12/health/ryan-dant-college-graduation-mps-rare-disease-profile/index.html 

It’s hard for me to call this a miracle… Because I know how hard Ryan’s parents worked to make this treatment a reality.  The miracle is that Ryan lived to see it.  Another powerful message from my friends the VanHoutan’s, they lost one child to a similar syndrome as Jonah, Batten disease. The VanHoutan family helped make treatment happen for those that follow in Noah and Layne’s footsteps. http://www.chicagotribune.com/news/ct-batten-disease-drug-met-20170707-story.html

What is in Jonah’s future?  I can’t tolerate thinking about it. I’d rather sit through three hours of a tattoo, rather then mentally take myself down that road. I had an emergency root canal this past month that hurt and after 5 visits it was finally resolved yesterday. I’d take a root canal and a tattoo everyday for the rest of my life over losing Jonah. Picture that. I’d have to tattoo over tattoos and replace crowns for the fun of it. So maybe that’s not a good comparison. But that’s the patients and pain that I would endure to see a treatment through to the end to save Jonah and or the next generation.

July, 30th is Jonah’s 9 Birthday, while in Oregon Grandma Wood had a surprise B.day party for him . We were having dinner out on the patio, Grandma and Aunt Jennifer whipped out a banquet table, dressed it and overloaded it with presents. Jonah watched everything come out. He backed up into my lap and whispered: “Mom, who’s B.day is it?”

He sat on my lap spell bound not moving an inch, as if he flinched the mirage would disappear. Once everything was in place Jonah moved into position with no hesitation or prodding. Loving every present that he opened for a moment.

He has asked several times since then if he’s 9 now?  He’ll be getting another party at Jeremy’s parents this week. I still need to plan his party with friends in Brooklyn. I wonder if he'd notice if he didn't get a friend B.day party on his B.day? I hope next year he automatically anticipates three B.days.

I applied for a new school for Jonah. Have no idea if we will get in. Back to School will be here in a flash. Fingers crossed he gets in.
Public school vs Private school

WE NEED YOUR HELP!

It's super easy, don't be lazy or tell yourself: "I won't be able to make a difference."

Listen to me and watch Jonah thrive, because people helped.

Everyone and their dog shops at Macy’s.  Even more so since Trump black listed them for not carrying Trump products, lol.  Politics aside.

Back-to-school will be here before you know it. Please act now to help JJB earn cash for our clinical trial.  For every $5 donation people will earn a savings pass up to 25% off at Macy’s. I take that back, NYC parents make it a point to not go to Macy’s, it’s an insane tourist trap in the heart of the city. For my NY friends please shop Macy’s online.

I have two asks, take your pick or pick both and earn extra credit.
1.)  Create a profile and join our team, share through social media to All your friends emploring them to donate at minimum five dollars and earn a 25% off Macy’s shopping pass.
2.)   Or you can just donate to our team
3.)  Extra Credit- Do both and help us win up to $100,000 in cash prizes.

·      Create your profile
·      SHARE SHARE SHARE. Tell everyone about JJB’s plight. Tell them that orphan bats have raised more $$ then terminal children.

Thursday, June 1, 2017

It's My Bday and I'll celebrate if I want to


Buy me something so I can re-gift it. http://bit.ly/JJBWishlist
I’m actually caught up! Knock on wood, I haven’t had a breather like this since I can remember, albeit it will only last for a couple of days. But for these few days I’m NOT going to create any extra work for myself. Tomorrow I’m going to go to Yoga class and then binge watch Game of Thrones. Today I walked through Greenwood cemetery, Brooklyn’s best kept secret. I met with a tattoo artist, the date is set for my new tattoo. Had lunch with a dear friend then bought some new sneakers for my hikes through Greenwood. Furthermore, I didn’t call anyone back or respond to any emails. I’m so proud of myself!
Red Tail Hawk at Greenwood Cemetery, just chilling.

Jonah is doing really well, he’s super funny and charming, even when he doesn’t mean to be, which is most of the time. I’m not living in denial, my entire week is consumed with the logistics of how we’ll bring a treatment to trial and then to market. I know exactly what will happen if we don’t. It’s just not worth obsessing over when he’s going to die or when will the treatment come. Live Life!

Happy Mother's Day, Anniversary and MPS awareness day to me.


Recently we have had some pretty big negotiations and projects come to fruition. Anticlimactic to say the least. It took over two years to sort out the terms and conditions on our exclusive licensing rights for our ERT type D program with LaBiomed. There was a lot of arguing involved, more back and forth then you could ever imagine. The fact that I have to go through these legal negotiations in the first place is a put off.  Phoenix Nest, our virtual biotech funded all the research to date. JJB won the creation of the knock out MPSIII D mouse model years ago, which put the science in motion. There are 2 people, twins, in the United States. Yes, I'm sure more children (young adults) will come out of the woodwork when we go to trial. Can you imagine trying to convince pharma to help you commercialize a treatment for two patients, in the US, possibly a 100 world wide?  Yet, I had to fight for the terms we got. The IP departments at University’s can be  greedy and tenacious.  Phoenix Nest has won over a million in grants to support this research. Phoenix Nest funds post docs that I have not met in person, they're great to work with though and I purchase equipment that I can’t even pronounce. Add grant manager to the list of my qualifications and I do the work for free.
That 'thing' cost $80,000.


I would not have been able to get this far if it wasn’t for Sean, my grant writer and CEO of PN,  Peg our  pro-bono lawyer from King&Spalding, Mary & Amy at McConville, Considine et al and my bookkeeper Deb. Mari, well she goes without saying.

Meanwhile I’m working on the same type of deal with an intellectual property department in the UK for the exclusive licensing rights for our MPS III C gene therapy program. Negotiations have gone a little more smoothly, but only after I contacted the Dean of the University and flew out to talk face to face with the manager of the IP department. The terms have finally been agreed upon, they can’t go back now. I’m just waiting on one little signature from an outside collaborator, then PN will have the exclusive licensing rights to our gene therapy program. These guys were smart enough to add a clause in our contract stating that I couldn’t disparage their name in public. LOL Not that I would, I think they just got nervous after I called the Dean.  Sometimes a little threat is what you need to get the ball rolling. The signing of our Gene Therapy agreement won’t be as anticlimactic. Our MPSIII C GT is nearly ready for trial. There is one MAJOR hurdle that we have to address, licensing and manufacturing the vector. I have to depend on my collaborators to move this portion along, this one is a bit out of my hands. I will lean hard on these people to move it along.

Years ago PN received the exclusive licensing rights for a chaperone molecule for MPSIII C and D. Working with the entity that holds the original patent was seamless. Every institution is different.  We have been modifying the compound for a couple of years now. Every 4mo we get several new versions of the original compound and it keeps getting better and better. The original version rescued enzyme but it was too toxic. We work with a chemistry group to help us design the new compounds, which are then sent to Alexey to test. The research lulled last winter when JJB couldn’t afford to replace the postdoc who left. Jeremy and I sold our parking spot and granted the money to Alexey, our new postdoc is now testing the backlog of compounds with great success. Our chemist is already working on additional designs from the new leads. This is the kind of stuff I get excited about.

Our chaperone program gets the least funding attention from our consortium HANDS, because we have placed Gene Therapy as our top priority. A chaperone for Jonah or anyone with a responding mutation could be our silver bullet, but it won’t work for all our kids. Gene Therapy is for all of our kids, the late staged young adults might opt to not have the drug. We continue with the chaperones, for several reasons. For late staged patients this is a more favorable approach then GT. Also the chaperone that we’re creating will most likely have implications for other lysosomal storage diseases. Gene Therapy (GT) is a one time surgery, a chaperone treatment is forever and can enhance GT. Brining us as close to a cure as possible.

Alexey also has two other MPSIII C programs in his lab. But that’s enough for the science for now.

Our Natural History Study has FINALLY been approved by the Internal Review Board (IRB) at Montefiore Children’s Hospital. I swear I thought I was going to have to beat someone up, I called the boss too, but I think you have to be scared of your boss to pickup the pace.The IRB is now with the National Institute of Health and waiting for approval. Dr. Levy, Paul is a very calm thoughtful man. He reminds me of Jeremy, he can’t be rushed and sometimes I just want to wring his neck. He is passionate about the kids and prioritizes them over the science. A lot of PI’s conducting trials of this magnitude put pharma first, Paul can’t be bought. His ability to connect with children is priceless, he can put children at ease, which makes for a productive visit. I’m anxious to meet our Neuropsychiatrist, I realize now the crucial role that she will play.

When Jonah was first diagnosed we drove out to North Carolina to meet with a geneticist, neuropsych etc..  We were at the clinic for a few days, the first day Jonah threw up all day.  We waited out a day at the hotel hoping he’d get over the bug before we did the cognitive testing. The next day Jonah was still irritable, not vomiting anymore but not happy. We met with the neuropsychologist and she immediately got down to business, ushering us all into a little room. The back of the room had a few book shelves, the other walls were lightly decorated and kid friendly the room was taken up by short round table, surrounded by furniture. The furniture overpowered the room, there were no windows and it was claustrophobic. Jonah was anxious he wanted to be free to move around. The doctor was commanding, she didn’t try to engage Jonah and win over his affection.  I was surprised by her rigid borderline militant demeanor. She knew that Jonah had a profound neurological disorder that caused caused cognitive delays, brain damage and sever behavioral issues. Her job was to administer a few cognitive tests, to do so she needed Jonah to be comfortable. She didn't bother to get to know Jonah and disarm him. I didn’t get it, I thought maybe for our sake she wanted to get us in and out. Later I learned that the evaluator was an outside contractor and her original appointment with us was cancelled because Jonah was sick, so she had to reschedule, I’m thinking she was pissed about having to rearrange her schedule. I’ll never know the truth.

On top of her abrasive personality, she had two different colored eyes. Not something you see everyday and not something Jonah had ever seen. Her job is to administer cognitive tests to children with neurological and behavioral disorders, kids like Jonah have irrational fears. Animals and anyone in costume freak him out (he’s almost over this now).  Probably not the wisest career choice for her.  Jonah lost it, he was inconsolable, he wanted to leave charging at the door, screaming bloody murder.  The evaluator was incensed, she kicked me out of the room, insinuating that I was the reason for Jonah’s ‘bad’ behavior. I was ready to leave, the whole experience was cruel, Jonah was sick, scared and tired. Jeremy was willing to try and hold down the fort, out of spite I agreed to leave.  Knowing full well that things would only get worse if I left.  I sat down the hall in the waiting room. Jonah didn’t stop screaming for one second, he was inconsolable, I don’t know how long I let him scream for, it felt like 20 minutes. Enough was enough I stood up and walked down the hall, just as I was about to knock the doctor opened the door.  She was harried, sweating her eyes bulging.

She attempted to apologize, then switched gears stating that a child such as Jonah needed strong discipline, if we didn’t do it now we’d never regain control of him. I took Jonah in my arms and we left. Never to go back again. She was right that Jonah and our family would need extra help to negotiate his behavioral issues. But that day was not the time nor the place, Jonah was upset with just cause.  Instead of setting Jonah up for success, she brought out the worst in him. Jonah didn’t know any better, but she should have. He was 2, sick and scared.

The silver lining…. I learned an invaluable lesson. Five years ago I didn’t know that I’d be lining up the team of doctors for our Natural History Study. I know first hand what it’s like for a parent and what works and doesn’t work for our Sanfilippo children. I will make sure that our families do not meet with the same arrogant belligerence. The NHS, is a five year longitudinal study that follows the course of the disease. The kids will come in once or possibly twice a year, they will have one day of clinical testing and another day of cognitive testing. If the children are upset during the cognitive tests it will affect the results of what they’re really capable of doing.
For parents starting down this road, take note and choose your team very very wisely. Ask yourself if this is the doctor, scientists or institution that you want to work with side by side for the next ten years….

What’s next…. We’re waiting for lambing season to begin again, which won’t happen again until next season…. Who knew.

We injected 12 healthy sheep last Winter. We’re looking for the best distribution avenue into the brain for our gene therapy. Explanation… the gene therapy drug can be broken down to three parts (layman terms) The missing enzyme, a vector and the capsid. The enzyme that Jonah is missing is called HGSNAT, the enzyme can be man made, the vector is a virus and is the delivery method (like a flu virus) and the capsid is the package around the enzyme and the virus. The virus delivers the enzyme to the cell. The enzyme then does it’s job of breaking down the storage i.e. Hepran Sulfate, the substance that should have been recycled by HGSNAT.  Sounds simple right, totally doable.
Once you have designed the drug to perfection, then you have to figure out the very best way to get it into the body. In the case of Sanfilippo syndrome which primarily affects the CNS, getting a virus into the CNS and past the blood brain barrier (BBB) is an extraordinary challenge.  The brain protects itself from viruses getting it past the wall i.e. the BBB is a major challenge.

The virus has to be minuscule, but still large enough to carry the drug. In the case of MPSIII C we have an added problem, in that our enzyme can't leave the cell. Most enzymes move around, but HGSNAT is a homebody and attaches itself to the lysosomal of the cell. So we’re planning to go straight into the brain. For the surgery several teeny tiny holes will be drilled into the skull and the serum will be injected in.  Sadly I can’t say anymore. One day it will all be published and available to the world. More importantly we will have a TREATMENT for our kids!

Claire, Brian and Ian, the neurosurgeon went out to New Zealand and with a team of vets; performed the surgery’s. That fancy brain software that you all helped us buy, guided Ian in the surgery. Today the sheep brains are back at Manchester, where Brian, Claire and their team are analyzing the vector distribution. Claire, below has the job of slicing the brains of 12 sheep and categorizing the sections then analyzing them. She's the best thing since sliced bread!
Claire O'Leary, our postdoc at Manchester, meets P.J. Brooks, NCATS, NIH. ASGCT conference 2017

I can’t apologize if this makes you squeamish, we don’t have any other options. This is my life and I want to share it with you.  The animals are all free range they are loved by vets and during surgery are given the same respect as a person. They were raised for this single purpose and everyone involved in this process is deeply respectful to the sacrifice that these animals have given, albeit unknowingly made for science; i.e. my son and maybe even yours. FYI I’m pretty sure that Brian likes his dogs more then he does people.

The sheep studies will determine how we will proceed with the clinical trial. We’re almost there, manufacturing the gene therapy will be our next biggest hurdle.

We’re actively seeking partnership now. For the first time we’re meeting with a tepid response from pharma and investors. Back in the day people looked at me with pity and politely implied: "You're screwed"

We have done EVERYTHING we set out to do. My ducks are in a row now and it feels good. I’m stretching out and preparing to jump over the “valley of death.”

In a few months we will be launching a few awareness campaigns focused on finding and identifying people with MPSIII.  I WILL NEED YOUR HELP!
Behind the scenes pic during the filming of Mission: Hide and Help
In the meantime you can buy your favorite Gemini a birthday present, I hope you choose me.  Trump is also a Gemini... yeah yeah, I know we both talk too much, it's a Gemini thing. At least I also LISTEN to people, especially to my advisors.  Go here,  Jill's B.Day wish list
The gifts will go to our next benefit  Monster Mash 

This is the best idea Mari has ever had... Well close to it. http://bit.ly/JJBWishlist



Thursday, December 8, 2016

OUR story began in the South of France.







OUR story began in the South of France. 

In January, five years ago Jeremy, Jonah, Elvis and I traveled to France to meet with Ghulian & Francine, Belen, Raquel & Antonio.  We had to go, besides the Burke girls and Levi these were the only MPSIIIC families that we knew of. Jeremy and I were desperate to find more families like ours, we aspired to build our patient population and hoped to work together to find a treatment for our children.  Our friends in France speak next to no English and Jeremy and I don’t speak any French or Spanish. Belen only speaks Spanish, but fortunately Raquel (Portuguese) speaks a little of everything.  Our friend Elvis came along as our French translator and camera guy. The parents embraced Elvis as family.  I hadn’t seen him for 5 years.

After Thanksgiving Jonah and I went to Paris to meet up with our families again.  Our network of French families has grown, expecting to meet with 4 French families this time; too much for Raquel to translate for.  I texted Elvis out of the blue. “We need you Elvis… can you go to Paris and London with Jonah and I next month?”  He responded a few minutes later: “I’ll make it work.”

Jeremy couldn’t get out of work. No matter who you are in the network television industry, taking the week after Thanksgiving off is gravely frowned upon.

Before I go any further I want to mention to those wondering if we travel to exotic places to hang out with our friends on JJB’s dime?  To that I answer NO, it comes out of our own pocket.

The French families made the arrangements and found us an awesome three story house with a finished basement.  Perfect for our crew.  I wish we were still altogether.  How we look out for each other, nobody has to apologize for their child’s behavior.  They are better then some blood family members,  they would never judge you for having a ‘naughty’ child. No matter how bad your kid is, it doesn’t phase them, they just help. The odd thing about Elvis is how he responds to our kids, it’s as if he has a beloved sibling with Sanfilippo. There is no reason for how awesome he is, he just is. I mention this because Elvis deserves recognition, like our kids, he’s 1 in a million. I have never met a calmer person that has reflexes as fast as Elvis, he doesn’t skip a beat. Even if he wasn’t in the room he knows what just happened and he translates the scene before I even ask him to. If he could respond right now, he’d remind me of how I yelled at him from the ground floor up two flights of stairs to come down.  When he came down, I told him it was time for him to get to work. The look on his face put me in my place and I think I stopped bossing him around after that.

Besides just being with each other our meetings are a chance to catch our families up on the science. This year we welcomed a recently diagnosed family, the parents of 4 year old Jewels.  Devastation clouded their faces, Jewels’s dad could hardly make eye contact with me.  Out of respect I tried not to catch his eye. His wife… she braced herself for the answers to every one of her questions.  They found Ghuilain and Francine after diagnosis, they did what we all did when our doctors had no answers, they found other parents. We were just planning our get together when they were diagnosed. So they found themselves sitting at a dinning room table, with strangers, their heads down afraid to ask the questions that they drove 6 hours to ask.  Four seasoned families starred at them waiting for them to gather the strength to talk.

Stopping for a moment now to remind you that we still need your help!  Our holiday giving campaign has been awesome so far, but I see that momentum has slowed down.  We really really really really really need to raise another $70,000 dollars. I was blown away by the $18,000 that we raised in one day, we exceeded our Giving Tuesday goal of $10,000 and an awesome person doubled our goal with $20,000.00!!  "Save Me from MPSIII" runs until the 4th of January.  Join our team, help promote or donate. https://www.crowdrise.com/save-me-from-mpsiii/fundraiser/jonahsjustbegunfound


They arrived the afternoon that we took the kids to Disneyland.  Francine and Ghulian waited for them at the house.  When we got home our motley crew burst in exhausted and exited from our day at the park.  I can imagine what they must be thinking… “How can they all be so happy, when their kids are dying.”


Our day at Disneyland had been a blast and I didn’t think to dial it down before I walked in the door.  I wish I had been more respectful of their state of mind.

Disneyland was so successful because we got the special need passes for Haitem and Jonah, the pass gave us the ability to cut to the front of the line. It was a huge hassle to get them, I was ready to give up, but Elvis wouldn’t let it go.  He told me he was going to lay it on thick.  I didn’t have documentation that Jonah was ill.  We had to prove it to them. The first line that we cut through was at least an hour long and made up for the process that it took to get us the pass. Plus I got in for free, Jonah was half price and three other people got to be on our pass!  Disney Paris was decked out in lights and Christmas scenes and special surprises were everywhere.  Watching out for Jonah was a bit scary at times.  He always has to be up front and despite the freezing weather the crowds were big.  I don’t know how we managed to keep us all together.


Obviously I live a very frazzled life, I have my fingers in a million pies, my brain is always preoccupied with something.  When we’re in a new and exciting public environment with Jonah we have to pay extra attention to him. Jonah gets over stimulated easily and when that happens all hell breaks loose.  When I know I’m going to be in one of these situations, I wear my fanny pack.  I can’t spend time digging in a book bag or purse trying to find my wallet.  I have to be ready to pay and bolt. Our families went to check out this huge Christmas fair, in the heart of Paris, up and down the street for a half mile on each side vendors lined the streets.  There were rides for the kids, an enchanted forrest delighted Jonah.  It was a very merry time. We walked and walked checking everything out.  Jonah really wanted to go on the little Christmas train ride. I promised him we would go back.  We stopped to buy some Christmas presents, there was a really cool soap stall.  I stopped to buy some things. Raquel was looking after Jonah by my side.  I just pointed and said I want that and that and that.  I noticed a man next to me and I apologized for cutting. He didn’t care, he started to chat me up, asking lots of questions.  He told me how much my order was and I thought that was weird. He was really tall, he towered over me, he watched my every move. I reached into my fanny pack and opened my wallet to pay, he did not take his eyes off of me.  He made me nervous but I shrugged it off, he wasn’t going to rip the wallet out of my hand in front of everyone.  I paid and we moved on. 

At the end of the boardwalk the families wanted to cross the street for something else.  Jonah was freaking out; he demanded that I take him back to the train. It was dark, we needed to be going home. We compromised and made a place and time to meet back.  Alone, Jonah and I ran all the way back to the train, weaving in and out of the crowds.  I grabbed some change out of my wallet and zipped my pack back up and covered it with my coat. Jonah got his ride everything was fine.  Then he announced that he really had to poop. Like a four year old he waits until the very last second to go.  So we started running again, Jonah kept stopping to look at things. I was stressed; afraid that he was going to poop his pants, afraid that our friends were standing waiting for us.  We finally found a bathroom, FYI you have to pay to use the toilets. Jonah rushed in while I went to pay.  Yup you guessed it, my wallet was gone. There was nothing I could do. The bathroom attendant didn’t care that I didn’t have the money or that I had just been ripped off. I knew immediately that I had been targeted. These guys work as a team, that man was hanging out at one of the most popular vendors waiting for someone like me.  I swear I couldn’t have made it any easier for them. 

As it all sunk in I started to cry, so many cards to cancel, I hadn’t paid for my train tickets or hotel room yet.  Then Jonah yelled: “Mom I have poop in my pants.” I went to check on him.  Not only did he poop in his pants but it was all over the floor.  Of course there wasn’t any toilet paper, I tried to pretend like everything was fine as I took toilet paper from the other stall. Trying to clean him up as best as I could.  Then he stepped in it and started yelling at me to clean his shoe. I hadn’t paid for him to use the bathroom and here he had shit all over the place. I laughed and cried all the way back to my friends. I had a good cry then let it go. I didn’t have our passports in my wallet and I had my friends to help me out.

That same morning, I had locked the entire group out of the house. Ghuilian left the key on the table along with his phone that had the landlords # in it. So what… We found a ladder, Raquel had left the window open upstairs. Antonio climbed up and let us back in. No harm done. What’s that saying… the last one out locks the door?

Three days with the families in Paris then off to London. We planned the trip around a conference that I was invited to attend.  But that’s enough for now. I tired myself out just thinking about our adventures in Paris. You won’t believe what happened in London. lol 

I'm thinking maybe Elvis should write the blog about London.  He's the one who spent three days alone with Jonah...

Monday, November 21, 2016

Woohoooo it's the 22nd of November, no really Woohooo!

How much time do you think you spend: thinking, reading or talking about what Donald Trump just said? It happens to me every morning and I want to kick myself when I realize that I just lost 20 minutes of the first hour of my workday.  Here I am wasting more time again aarg. Please tune everything out and help us out for a second. It will be the best 20 minutes you spent today.

It’s the 22nd, of November our Holiday Campaign: “Save me From MPSIII" has begun.

Haven’t heard of our campaign yet?  Go here. https://www.crowdrise.com/save-me-from-mpsiii

Crowdrise is a fundraising platform that JJB use’s every holiday to raise funds for our research programs. In particular we are fundraising for the last leg of research for our gene therapy program. On March 1st we owe a payment of 77,768.50 GBP.  This past October JJB and our consortium HANDS paid the first payment of 77,768.50GBP.  With that funding our scientist was able to purchase a very expensive piece of software that they will use in this machine (pictured below.)  The software will help guide the needles through little holes drilled into the skull of our children.  We are also using this funding to secure the salary of our most valued postdoc, Claire. Claire will be making the GMP vector which is the drug that will be administered into the brain.  We have practiced on mice and gotten very good distribution results in the brain.  But we want the best distribution that we can possibly get, our children only have one chance at this and it has got to be perfect.  Failure is not an option.  So we will now be testing in sheep, I’m sorry if that makes you queazy and sad, it makes me sad too and I don’t take it lightly.  But remember we’re going to be doing this same operation on Jonah and our friends’s children. If it was your child receiving this experimental drug and invasive operation wouldn’t you want to take every precaution that you could before putting your child through it?  I know it sounds horrific, but for these children the only other option is death.


Last month I went to England to meet with the lead scientist, Brian and his postdoc Claire, they took us through the lab and we got to see everything.  I try to imagine what Brian’s office looks like all the time, what the lab is like, where do our mice live.  Now I know.  We walked over to the hospital and met with the neurosurgeon that will be using the software and preforming the surgeries. Raquel, from Sanfilippo Portugal met me there.  Now that we are so close to trial, we wanted to see for ourselves where our kids would be staying, what they would be going through and who will be taking care of them.  We wanted to meet the doctors and nurses. Put yourself in our shoes, what we’re doing is terrifying, monumental and groundbreaking. Can you imagine our fear and excitement?   We talked to Claire and Brian again about our plans for administration and of course the funding and the next step… trial.



This is it.  This is what we have all been working so hard for.  I hope you can continue to help us get there. I ask those that can use a computer to set up a profile and join our crowdrise team.  Mari will be adding a step by step powerpoint on our website tomorrow. Our campaign will run from November 22nd-January 5th.  There will be several Bonus Challenges throughout the time frame.  We will keep you updated on those dates.  The first one is November 29th, #GivingTuesday, the team to raise the most money on the 29th will win $25,000.  I hope it’s us.

Please share our story with everyone, post your link everywhere, send to all your colleges, clubs, friends and family. You’ll be receiving your JJB 7th annual newsletter in the mail shortly, so don’t feel bad if you don’t use the computer or social media.  We love to receive checks in the mail.  BTW ask your HR department at work if they match donations?! We love two checks in the mail even more.

I hope my fellow Americans enjoy a wonderful Thanksgiving feast.  We sure will, Jeremy is the best cook ever. On Saturday Jonah and I will be joining 6 Sanfilippo families in Paris, for a patient population meeting!  We rented a huge house for all of our families.  I hope they have good insurance.  It’s going to be hysterical!  We will have a french translator to help us explain our research progress, otherwise it would be me, drawing pictures and playing charades. That would be funny too. We always have the best time together.  Ce Bon.
Raquel, the brain guiding machine and Dr. Kamaly

Raquel, Claire, me and Brian

Over the weekend we took Jonah and Sebastion on the Polar Express

Saturday, November 12, 2016

She's got grit

So how about that election…  I kind of had a sinking feeling. I take solace in the fact that Hillary won in the popular vote. I didn’t vote for Hillary because I’m a feminist or because I think Donald is a piece of sh*& but because Hillary is the better person for the job.

Up until now I have never given much thought to being a feminist.  You can call me a feminist and I won’t consider it a label but just one of my attributes. 

I admit I’m a sell out. I haven’t stood up for equality in my mission to create a treatment for Jonah’s syndrome.  When I formed Phoenix Nest, my first thought was, who’s going to be the CEO?  It can’t be me.  Nobody will take me seriously, I’m just a mom, a women.  Asking Sean to stand in front of me as CEO was not a hard decision- he’s a man with a Ph.D even, he’ll be accepted.   My only thought was for Jonah and doing what it took to get a treatment for our kids. Someday maybe I’ll go back and get my MBA and take the helm of Phoenix Nest.

Call me a feminist but don't call me a‘fighter mom’.  People call me a fighter mom all the time, as if it’s a compliment.  For me, as a feminist it’s a derogatory remark.  As if because I’m a women I’ll have to fight the system.  While a man can just make a few phone calls and it’s all taken care of.  You never hear anybody call Mark Dant a fighter dad.

Somebody once told me about a time that they had to try and explain my personality to another person.  This was an awkward conversation for me.   Listening to someone try to sum me up in a word. I stopped her and told her next time you find yourself talking about me, just say: “The girl has got grit.” It has a nice ring to it.

When I found out that Hillary didn’t win office, I was in denial, like watching the trade towers falling- this just can’t be happening.  I couldn’t wrap my brain around it. When it sunk in- my heart  sank.  I thought if Hillary couldn’t convince millions of people that she was the better person for the job.  Then how can I ever expect people to donate to our campaign?  I felt defeated on many levels.

JJB is getting ready to launch our Holiday Giving campaign.  Mari and I have been working very hard on how it is that we’re going to convince people to give this Holiday Season. We talk about what it takes to convince people all the time.  We’re a non-profit we survive off of donations. Yet, it seems impossible to convince people to donate.  Almost a thousand people read my blogs.  Over the last two weeks I have been posting to: Twitter, Instagram and FB asking people to join our: “Save Me From MPS III” campaign.  Mari sent out an email blast. I personally emailed friends and family asking for help. This message hit thousands of people.  In the last two weeks, guess how many people took action and joined our team? 2 people.

I had a little pity party for myself and Hillary earlier this week.  I did things that made me happy- retail therapy helped. I made a collage frame of Jonah and Jeremy’s selfies.  I stare at it constantly, their smiling faces make me so happy. During my down time I realized that I had convinced 100’s of people to do things that they never saw themselves doing.  Case in point, Sean gave up his day job to help me. Our lawyers work pro-bono and discounted rates.  I convinced  the scientists to work on an ultra-rare disease, when they could have been focusing on cancer. I have brilliant advisors around the country that take time out of their busy schedules to help me whenever I ask. I convinced Jonny Lee Miller to help, he ran a 100 miles in one day to help JJB.  I have given talks that have inspired others to follow my lead and who are now creating their own biotech’s and winning grants!  Friends and family from coast to coast (but nobody in the middle…) have given their blood, sweat, and tears to put on fundraisers for JJB.  I have spoken to our congress people and they have been convinced to help us.  It occurred to me that I am good at convincing people to help.  But maybe it’s not completely about convincing people, but reminding them to help.  Reminding them over and over and over again.

So here is your reminder.  Giving Tuesday starts November 22nd, on that day, Crowdrise opens up it’s donation portal.  JJB has set up a campaign on Crowdrise called “Save me from MPS III”
https://www.crowdrise.com/save-me-from-mpsiii/fundraiser/jonahsjustbegunfound
JJB is asking you to donate or join our team. All you have to do is create a little profile and hit the tab on our page that says “fundraise for this campaign” We're asking that you join the team NOW so that we can hit the ground running on November 22nd.  The campaign will run all the way through December. There will be contests and cash prizes that we need to be ready for.

When you link your profile to “Save me From MPS III” you can go in and edit your fundraiser.  Make it personal, upload your own relevant pictures and story of why helping JJB is important to you. For inspiration, read what Jennifer Wood-Mercier wrote.  Then blast the link out to everyone you know and even some that you don’t.

Can you do it?  I’ll be watching.

Wait a second.  It just occurred to me it's INSPIRATION that you all need not convincing!  Duh.  I don't have to convince you that Jonah and the children suffering from MPS are worth saving.  I need to inspire you.  Hm what can I say or do to inspire you?   I need to think on that.  In the meantime look into these engaging, brilliant and happy blue eyes. Jonah doesn't know that he's dying, lets get him a treatment before he does.


Monday, October 24, 2016

This is for real

Sanfilippo is a disease that’s not going away, kind of like Trump, ba-dum-bump.  This won’t end for me until we have a treatment for Jonah or he dies. Which will come first?  I’m working like mad to ensure that a treatment comes first. It’s what I do all day everyday, no relaxing vacations or weekends off.

I'm not opposed to shock value.  You can learn a lot about about a person by the look on their face when you drop a verbal bomb on them.  I only do it when I want to see what you’re made of.  Or sometimes if I just don’t like you and want to make you feel uncomfortable. I despise rubberneckers- turn on Jerry Springer, or pick up a tabloid, you don’t deserve to hear my story.

This morning I was again reminded of how little time Jonah has.  Another little boy passed away last week, Russell.  His little sister also suffered from Sanfilippo. On the day of Russell’s funeral services they were interrupted by the passing of his little sister. 

I’m coming off callous, or is it shock value, it's just brutal honesty.

Do YOU have what it takes to help?  Do you even want to help?  Are you willing to wager that something like this will never happen to you or your family? Guess what?! There are 7,000 rare diseases affecting 1 in 10 Americans.  Half of those diseases affect children and a third of them won’t live past their 5th birthday.

If you have already been hit with your fare share of loss, you have my heart felt condolences!  I feel your pain.  There is war, terrorism and just freak accidents.  We can’t control that. Or maybe we can… Think wisely before electing. My point, we CAN create treatments to end diseases and save our: children, parents, cousins, siblings and BFF’s.

Here is what you can do- go buy a lottery ticket or donate to charity. Your odds of helping to create a treatment are better then winning the lottery.

FYI I can’t stand it when people tell me what to do! These days, everyone is walking around with a T-shirt slogan suggesting how you should live your life:  Eat, Sleep, Pray.  Love, Yoga, Rest. Coffee, Bicycle, Repeat.  I want to say to these people: “Wow you must have the easiest life in the world- to do just three things all day!"   " What I wouldn’t do to be you!”



BTW I was just being dramatic when I said I’d stop if Jonah died.  I’ll never stop, there are too many families that need us.  Go here to be a team member and raise a few bucks for life!  But don't let me tell you what to do.   https://www.crowdrise.com/save-me-from-mpsiii/fundraiser/jonahsjustbegunfound Link it to JJB’s  fundraising page “Save Me from MPS III”
The fundraising for “Save Me from MPS III” does not open until November 22nd, Giving Tuesday.  This gives you a bit of time to make the most compelling plea for donations possible.  Check out the one that my sister Jennifer did.

When you’re done creating your team member profile, you can reward yourself by looking at this album.  See how far JJB has come to creating a treatment for our kids.  Thanks to you  (not the rubberneckers) we're getting ready for clinical trial.

https://www.facebook.com/jonahsjustbegun/photos/?tab=album&album_id=1318052388205357

October 13th, at Manchester University, Brian Bigger's lab.  That's Claire our post doc, Brian and me, trying to be funny with my hood up. I ain't afraid of no ghosts. Just my child dying.


Monday, June 27, 2016

150 Heroes wanted!

I could really use a Hero right now.  It's been a tough month not only for us, but the whole world.

On July 23rd, I look forward to meeting a 150 Heroes at our event 'Heroes Among Us'.  To be one of the 150 Heroe's register here. http://bit.ly/HeroesRegister 


  Ironic that Jonah would go in disguise wearing a villain mustache- when he's promoting a Super Hero event... Poor marketing on my part. Jonah is too cute to be a 'bad guy' he loves to fight crime and help others.
UPDATE- Since writing this blog, I have gotten what I wanted from the department that was stalling. I still stand by my rant. It just goes to show you that sometimes it pays off to be a squeaky wheel. Note I no longer visualize anybody getting punched.

When I was a kid and I didn’t want to do something I wouldn’t do it and you couldn’t force me either.  If I signed up for a sport or activity that wasn’t working out for me, I quit. I didn’t stick it out because my mom paid for it and it was money she couldn’t have back. If I hated my job, I searched for something new, put in my notice and quit. My motto was- life is too short to do something you don’t want to do. Ive always been able to cut my losses.  It’s hard to quit when you have invested time and money into something that you really wanted. There is no sense in throwing good money after bad. 

Now I’m stuck, I can’t quit, no matter how hard it is, I have to keep working. There are days when I’m so burned out that I can’t bare to open my email or take the next conference call.  I call out sick to myself and send a text to Mari:  “I can’t do it today, please don’t call me.”

Then I pick Jonah up from school and he screams: “MOM!” and throws himself into my arms, takes my hand and starts telling me about his day.  Quitting is not an option, to quit would mean quitting on Jonah, quitting on life.   I tell myself that I'll try again tomorrow.

In the last few months, three of my friends have all seen their children enter clinical trials. It feels like a miracle. I put myself in their shoes and imagine what it must feel like to be standing in a hospital room hovering over your child, watching the enzyme leak from the IV down through the tube into your child's vein.  Surrounded by the scientists that worked for decades on the treatment, your husband and team of doctors. I think that I would be so overwhelmed with emotion that I’d pass out.  I like to imagine this day. It’s what gets me through the hard times.

All three of these families were diagnosed years after Jonah. I’m not jealous, not in the least bit. Their good fortune gives me so much hope for Jonah.  The science for Sanfilippo type A and B started decades earlier then C and D. It’s about time that they are entering into clinical trials.
Abeona trial:

Biomarin trial:

When I first started out on this journey, I thought a lot about the steps that I’d have to go through to get a treatment to the clinic. So much so that I have driven myself a bit crazy.

The first stretch was to: create a mouse model, identify the science, identify the patient population, initiate a NHS and start funding the research. Five years later the science is nearing the clinic and we’re in good shape. With the exception of a constant need of cash flow…  JJB has a very tight group of MPSIIIC foundations fighting right beside me.  The Sanfilippo patient registry that we founded is taking off.  We have three different mouse models now. I assume that by the end of summer Jonah will be the first in our NHS.  We have accomplished everything we needed to for this first leg of our journey.

I’m now moving from working with the PhD’s to the MBA’s. I hate it. Metaphorically speaking- I want to punch all the money people in the head (repeatedly). When Jonah plays Heroes and Villians, he locks them up and puts them in jail.  The MBA’s  are the gatekeepers between a treatment and the clinic.  Before I can pass I have to pay them off. They seem completely oblivious to the fact that if not for the funding from patient organizations; this science would not have ever happened. Over these past five years, HANDS has funded dozens of postdocs to work in their labs, we have purchased expensive equipment that they get to keep.  The scientists  are able to publish numerous papers on their scientific findings.  Furthermore their scientists have been asked to speak at countless prestigious symposiums and conferences. All this brings fame to the universities and to their science departments.  Not to mention the patents they get to file on our research. What more can they expect from us?

I wonder if they have ever tried to put themselves in our position?  What would they do if their child was diagnosed with a terminal uber rare disease, that had no treatment?

When I blog, I mostly blog for my friends, family and supporters. This is my way of keeping these people informed. Secondly my blogging has a financial agenda. I want people to stay engaged and inspired so that they will donate.  Recently I was reminded that my blogs help others like myself,  plan their course of action. This next bit of conversation is for you.

Lawyer up. You thought just learning the science and funding the research was a painful process?!  Get your rubber boots on for the pile of bureaucratic greedy bullshit that you will have to trudge through to get your treatment past the University’s front door. Honestly the science moves faster then the politics.

For the uber-rare treatments, your science isn’t worth funding at the pre-clinical stage, nor is it worth funding at the clinic. But once the treatment is FDA approved it will be worth a very small fortune and the University’s want to make sure that they get their ‘fare’ share.  There is nothing fare about it.

Jeremy and I have spent 10’s of thousands of our own dollars on lawyers and advisors. Not to mention we have given up all of our free time for normal family activities to host garage sales and plan galas.  The University’s have spent nothing, they’re getting all the above for free. If I had the money I would throw it at them to shut them up and move on. But I don’t.
 
When we’re finally done with the negotiations, we will be going to the FDA. I’m hoping that we won’t meet with as much resistance as the money people.  The FDA’s job is to help create treatments not earn royalties.  Even with the orphan drug act on our side I know it will be a slow and painful process. The FDA doesn’t have the funding to hire enough people so that we can move fast.

I don’t talk much about our biotech Phoenix Nest.  I have to compartmentalize all my different jobs, thinking about everything at once is too overwhelming. I hope you understand.  Recently a press release went out about the three NIH grants that we won. This is something to be very proud of and I am. Reminder- these grants do not cover the research for Sanfilippo type C, which is Jonah’s subtype.  They cover subtypes B and D. I can’t win a grant for our type C research, because our labs are not in the US.  The NIH grants only fund science in the US. We’re working on a way around this. But until I have the licenses taken care of, I’m stuck.  We have to keep fundraising.



That brings me to my second agenda for maintaining a blog. For the New Yorkers- On July 23rd we are having our 2nd annual fundraiser hosted by South Slope Pediatrics.  You can purchase your tickets here.
http://bit.ly/JJBHeroes

For those of you who can’t make it, you can donate to our goal of $17,598.00 here.
http://bit.ly/HeroesThermometer

This obscure # is how much it will cost to produce our GLP grade vector in mass.  We will use the vector during our last leg of research.  Since we created this goal, the value of the GBP has taken a nose dive. 

Side note… I don’t pay much attention to the news unless it directly affects my immediate future.  Several horrible tragedies have happened that even I couldn’t ignore. I’m really very sorry for the families that have lost a loved one in Orlando. World politics, the Brexit vote and Donald Trump. We’re going through some pretty unsettling times. We have to continue to fight the good fight. Otherwise the villains win.

Keep an eye on our goal here.


We also have two awesome raffle prizes!
1.) For the New Yorkers: an awesome package to Court 16 worth $600.00!  
2.) For those out of town you can enter to win a: first edition, autographed and doodled book from Jonah’s favorite author, Mo Willems! 

FYI, Mo has recently retired from writing 'Piggie and Gerald' books, this is your chance to win a first edition copy.

Get your raffle tickets here.