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...

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

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.

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.

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:

http://www.raredr.com/news/first-patient-gene-therapy-sanfilippo?utm_source=Informz&utm_medium=Rare+DR&utm_campaign=RDR_Trending_News_5-19-16

Biomarin trial:

http://investors.bmrn.com/releasedetail.cfm?ReleaseID=966351

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.

thttp://www.raredr.com/news/phoenix-nest-grant

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.

http://bit.ly/ThermometerRise

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.

http://bit.ly/HeroesRegister 

Stop counting

Stop counting!

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

I take take take

I take take take from my friends, family, neighbors and strangers.  I rarely return the favor anymore. I used to be that person that ran to the aid of friends, you could count on me to help. Now my friends don’t even tell me when they get into car accidents. Everybody is scared of adding anything stressful to my plate or they feel like their problems are trivial to mine. My sister had me rolling in stitches last week: her car broke down, her cell phone died, mom’s making her crazy (it goes both ways), her renter gave her 30 day notice that she was moving the week before Christmas.

She’s broke and can’t even afford a bottle of woe is me wine. She turned it around with: “Hey at least I have my health, my house and lots of beautiful things surrounding me. Iv’e been working out, since I have nothing better to do and nobodies dying here.”  To know Jennifer is to love her.

She also mentioned how annoyed she was that she couldn’t find her colander.   Poor Jennifer, her apples have no place to rest.  Seriously these are the stories I love to hear, albeit only on occasion. They take me back to when I had a typical life. I really miss those days.

Jennifer will be pissed that I recanted her rant.  For now I have a get out of jail free card.  I ask myself how long will this last?

I solemnly swear that I will payback my debt to society, once we have a treatment for Sanfilipp Syndrome.   I do do the best that I can to help others in need. Unlike my husband, I give money to homeless.  I say, who cares if they spend it on booze?!

I have been getting a lot better about putting Sanfilippo aside and focusing on enjoying Jonah.

This year, the first in five years I made an attempt to take back Christmas and embrace the Holiday.  I decorated with winter wonderland plants and Jeremy made the most astonishing snowflakes.  I took Jonah and his friend to the city.  We did the town, Rockefeller center, the tree, dinner and the lego store. Then to Macy’s, their windows are a must see! The Christmas music resonating from Rockefeller center, was it coming from Saint Patricks Cathedral?  I couldn’t tell, the streets were alive with music… The abnormal spring like weather was a bonus too.

After spending an hour enjoying the Peanuts display in Macy’s windows we went inside. The ground floor of Macy’s looks like a pinball machine laid flat.  The makeup tables a maze to run through, the makeup artists being the arms to bounce off of, Jonah being the ball. Bing bing bing.

The 8th floor, Santa’s floor, a walk through bridal and fine china.  What were they thinking?!  What was I thinking?! JD bought Jonah a gum ball, they watched it wind it’s way down the cylinder tube, Jonah’s first gum ball, mammoth and bright purple.  He’s never even had gum before. He held the ball, not sure what to do with it, he licked all the food coloring off first, smearing it all over his face and hand.  Then he stuck it in his pocket.   Across the isle a $10,000 dollar white wedding dress.  Wow it was beautiful, Jonah memorized made his way towards it.  Me screaming STOP Jonah STOP. Before I could reach him, he ran his fingers through it’s luxurious plumage with his cleanish left hand.  We still had to get through fine china!  I used to work for Macy’s, I know what happens to kids that break dishes…. Nothing. It’s just embarrassing.

I was well aware of what the Santa line was like at Macy’s, I had checked it out before and turned around and left.  This time I walked straight up to the front, and told the Elf that I had called ahead and the department manager said I could just tell the head Elf to let us in.  The Elf cheerfully obliged. We skipped on in. I didn’t know that there were at least 6 lines that covertly took you to see several different Santa’s.  What an operation they have going on there. Jonah and JD loved it!  They were both so shy, so dang cute.

Zippi and Jill

That Sunday was our ‘Light’s of DNA’ art gallery showing with Zippi’s art class. The JJB logo was inspired by DNA, I Love NY logo and children’s construction toys. Inspired by JJB’s logo, I thought it would be cool to do a childrens gallery show, where the art took it’s inspiration from biology.  In the process I hoped to bring awareness to the children’s parents. When Jonah was dx’d I had know idea that this world of rare diseases existed.  7,000 of them with only 400 treatments!  With 50% of them affecting children; a third of those kids don’t live past the age of five. Digging deeper I wanted to open childrens eyes to the fact that some kids are born differently.  To know fault of their own, these children have birth defects or genetic causes that lead them to look different and act differently.  I admit my goals are a bit selfish.  I couldn’t stand the thought of children making fun of Jonah for his quirky behaviors and slow learning abilities.

The show was outstanding, I wish we had press there. The kids embraced the program and relished in the attention they got at the art show.  During class they talked to each other about how it felt to be different. They learned about biology and rare diseases. It was delightful to meet them and talk to them. I bought several pieces as presents for our scientists. They totally dug that.


I heard about Zippi’s art class through a friend who also mentioned that Zippi was an incredible person.  I met with Zippi and told her about Jonah, JJB and my idea.  Her eyes welled up with tears.  She smiled and said she was in.  Zippi is just one of those people that you want to be around.  Her energy is soothing, she’s insightful and compassionate. She could have been a therapist. When you meet somebody new that can put themselves in your shoes, you want to keep them around.  I don’t have a lot of free time to hang out with my friends. Just running into these people at the grocery store or on the way to school gives me strength. I see you, I know you’re here to help; in my head I thank you everyday.

I’m very much encouraged for the New Year. I spent Thanksgiving in Geneva where I met with our International families. I went for a scientific conference, but mostly I went for my MPS families. We stayed up until 3:00am talking, so much to relay to them, It was not enough time!

Left to Right. Jill-NYC, Samia-Paris, Megan -Australia, Raquel -Portugal, Arleta -Poland, Jenny -Mexico.

The New Year begins and we have our marching orders.  We have got to raise the funds for our toxicology work.  Once that’s done we can head off to clinical trial.  I’m tired of hiding behind the fact that we have to test our gene therapy on animals.  There I said it! For those that would like to remain in denial, don’t read on.  We have done all the testing in mice. We’re ready to produce our vector in a larger batch so that we can test in sheep, we have to scale up and see how far we can deliver the vector in the brains of animals that are comparable to humans. We’re not doing dogs or monkeys, if that makes you feel better. It does for me. It’s between sheep or pigs.  This takes a lot of money.  The facilities that make the vectors don’t come cheap.  The containers and production rooms have got to be impeccably managed.  Temperature control, contamination procedures and production logistics. There aren’t a lot of facilities around that are equipped to do this work either.  Then we have to buy the animals and maintain them somewhere. Surgery, dissection and more research. Manpower. You can do the math. Ask yourself, how much is your child worth?  Now think about all the other children living the same fate as Jonah and times that by all the children that have yet to be born. These childrens lives are priceless, don’t you think? 

Our Crowdrise Holiday drive comes to an end in the next 24 hours!  Between our Crowdrise  donations and offline donations we have raised…. drum roll please!  $45,000.00.  Our goal is $50,000!  We have 24 hours to make our goal!  To top it off we have a sponsor that has challenged us to make our $50,000 goal; he will donate another $5,000!  That’s $55,000!  Enough to pay the years salary of one scientist! 

Please push push push our Crowdrise campaign during these final hours.  Contest ends on the 7th of January at 2:00pm ET.
https://www.crowdrise.com/ouryear

THANK YOU!!!!!
Jill