Double edged sword.

After Jeremy and Jonah sang me Happy Birthday, Jonah proclaimed "my turn!"

Just happy to oblige.

So annoying! My yahoo account was hacked. I changed the PW and that seemed to stop it.  Sorry for the spam.  It’s bad enough that I naturally spam my friends, only to have someone else hack in and do it for me, well that’s just overkill.

My life is a double edged sword, catch 22, damn if you do damn if you don’t.  The future is terrifying.  I’m glad to be a year older and closer to the finish line.  Time means that Jonah is getting older too and closer to brain damage.  His 4th Birthday is just 6 weeks away.  Two years ago, when we started this campaign we assumed he’d have brain damage by now.  He doesn’t!  Now we "assume" that we will have another 2 years before he starts to change (based on observance of other MPSIIIC kids.)

For the most part our business plan and executive summary for Phoenix Nest is done and I’m ready to hit Boston with it.  I feel like it’s finals week, Ive done all the cramming I can do I’m just waiting for the test.  Monday can’t get here fast enough!

While researching for PN, I found a few articles discussing the most expensive drugs in the World.  I was relieved to find that out of the 12 most expensive drugs in the world, five of them are for Lysosomal Storage Diseases (LSD’s) which Sanfilippo is.   Sanfilippo is also part of the MPS’s (Mucopolysaccharidosis.)  2 of the 5 LSD treatments are for MPSI and MPSII.  I was relieved because... I’m scared.

I’m scared that I won’t be able to convince a venture capitalist (VC) to invest in Phoenix Nest.  I created our virtual-biotech out of necessity, our patient population isn’t large enough for a big drug company to take interest in us. Our alternative is to do it ourselves, for that I need a financial partner.  But why would a VC want to help an ultra rare disease company?  Well because, we can charge the World’s highest prices for a Sanfilippo drug.    Phew- I can breathe a little easier now!

Then it occurred to me...  I have just become one of those evil capitalists, a company that my neighbors occupied Wall St. to shame. Ugh! But what am I supposed to do?  Sit back and watch our children die?!  Because I don’t want to over charge for a treatment that I have to have to save my son?!  A treatment that would never see the light of day if it wasn’t for the parent advocate groups driving the science....

I’m sorry I don’t have a billion dollars to do it all by myself!!!!  I have to convince someone that does into helping us. I can’t apologize for being happy that we can charge exorbanent amounts of money.  Life is a double edged sword. On a side note most of the manufactures of these expensive drugs give scholarships for those that don’t have insurance.

So here is my compromise. On the slim chance that we do get VC backing and Phoenix Nest is able to discover and create a treatment that in turn makes millions and millions of dollars.  I’m going to open up a private nonprofit school for special needs kids (Phoenix Nest Refuge.)  The school will be the best, a parents dream come true and free of charge.  We’ll shame the other greedy capitalists into helping us maintain the school!

After entering the realm of the special needs world, I have met many amazing parents with wonderful kids that need help.  Our government is turning their backs on our kids.  If there isn’t a special program in our district, then our government forces us to mainstream our kids.  This is totally unexceptable, for everyone involved. So here we put a child who may not be able to communicate, walk,  sit still for more then two min.’s and is prone to outbursts- in a classroom with normal kids.  Who’s benefiting from this?  NOBODY! Not the parent, child or his classmates not to mention the administrators and the rest of the fall out effect. What a disaster.

Many parents are forced to move to different districts in hopes of getting their children into a special needs program, only to pay thousands of dollars for tuition. It’s added insult to injury, our lives are complicated enough!  We're already bankrupt from having to pay through the nose for medical expenses.   As it stands now, our governments is saying to us: “Your child will never contribute to society, so make him a ward of the state; we’ll warehouse him for you until they die and are no longer be a burden on you and society.”     (fu)

So I fantasize about creating a beautiful school with all the amenities that our special needs kids need.  Because our children deserve nothing but the best, they deserve the same quality of life as anybody else, IF NOT MORE!  Who's making all the sacrifices here?

The odds are stacked against Jonah and this generation of rare disease children with no treatments.  There are 7,000 rare diseases and only 5% have treatments, 75% of the rare disease affect children. :( BTW the definition of  a rare disease is one that afflicts 1 in 200,000 live births.  MPSIIIC affects 1 in 1.4 million.

To make all my dreams come true I need money and lots of it.   Money will never by anyone happiness but it will buy our kids a cure...  Fingers crossed I can convince a VC to give some funds to Phoenix Nest.  In the mean time JJB needs to keep our payment plan for our gene therapy.  On September 1st JJB has to pull together $90K for our third payment for the first ever treatment for MPSIIIC  :) I'm very proud of this.

I have until June 16th to raise a 2k from the text to Rare program.  JJB's 1k will be matched by the EveryLife foundation.  On top of that my friends Dad has pledged to math another $340.00 (the remainder, needed to make the 1K)  I created a birthday wish, sent out an email blast, tweeted and blogged about this fundraiser.  I can't believe we haven't gotten a 100 supporters to text rare to the number 85944.  This just says to me either nobody reads my cries for help or people just don't get it?!  If you can afford 10$ and text please do it now. We only have until the 16th! Go here now. http://www.everylifefoundation.org/texttodonate.aspx

Why do we all make promises that we can’t keep?

Why do we all make promises that we can’t keep?  We’re all waiting for a cure for our kids, we hang on every word that our scientists and clinicians say.  Reading into their statements, hearing what we want to hear, clinging to hope.

February 2011 Jeremy and I went to the WORLD conference in Vegas.  The Sanfilippo community was anxiously waiting for Zacharon to take our first treatment to clinical trial.  Little did we know then, but Zacharon had just partnered with Pfizer to help them finance the R&D for our treatment. At the conference, if you all remember from my earliest caring-bridge blog. I told our friends and family how Brett- the lead scientist and co-founder of Zacharon, introduced his son to Jeremy and I.  Brett told his son that Jeremy and I had a little boy too and he was going to help him (Jonah.)

I so desperately wanted to believe Brett, I envisioned Jonah being the first Sanfilippo child to walk away from this insidious disease unscathed.  Zacharon’s treatment, would slow the progression of the disease, buying us some time for a more aggressive treatment to be developed.  I never truly hung my hat on Brett’s proclamation... I want to believe it, either way I’m grateful for the hope that Brett gave us.  We’re still waiting, it’s been 2 years now... Fortunately there is a lot of science now and I have turned my attention to other prospects.. Don’t put all your eggs in one basket, That’s my motto!

Then there is our ever so self professed brutally honest scientist Brian Bigger. Brian goes out of his way to not make any promises. Reminding me every time I see him, that a treatment might not come in time for Jonah.  I’d love to hate him.  He’s just scared that we will forever hold him personally responsible for not single handily saving our kids.  He’s quite egotistical, that’s why I like him and trust him to go the distance.

Then there’s me... I have promised all my families that they have my word... I promise!  I won’t quit until we have a curative treatment for our kids.  Yes... deep down we all know that our kids (this generation) might not be able to benefit from the treatment that we brought to market. BUT WE DON'T NEED TO BE REMINDED! It just goes without saying... We have to have hope!  What else is there?

Today I am reminded of those that never promised anything but have provided without complaint or need of praise. My Mom & Melissa, who are making our wine tasting event happen, it's going to be beautiful and delicious.  Sean, Mari and Jen who just do it without being asked.  My husband who has risen to the occasion; laid his sadness aside and has taken over all my house wife/mom duties.  Without complaint Jeremy: cooks, cleans and attends to Jonah’s demands.  For better or worse... they are all doing what they can, so I can keep my promise.  My sincerest thanks.

In order to hold up my end of the bargain I need for JJB to raise another 20K in the next three months.  Recently the EveryLife foundation donated me their text to donate widget.  All I needed was for 100 of our supporters to text “Rare” to the number 85944. I had a month (May 16th-June 16th) to raise 1,000 dollars to be matched by EveryLife.  I honestly thought that could be done  in one day.  We have 10 days left for another 50 people to take the opportunity to help JJB raise 2K and help me keep my promise. Over a 100 people read this blog, just saying... I know not everyone can afford an extra $10 bucks (I hear that.) If you don't text follow this link.

While you’re at it you might as well purchase your tickets for “Salut, Prost Cheers... To a Cure.”  Follow the link and check out the fantastic lineup of wineries pouring.   Music by the Jake Blair Band, buffet catered by Nikki Stokes the new owner of Uncorked.  The sponsored tables will have a beautiful platter of artisanal cheeses, spreads from the Republic of Jam, bread from Pionteks Bakery and hand crafted olive oils. Plus two bottles of wine from the Stoller Estate.  JJB wine glasses on the house. Seriously... get a table. Invite 8 of your friends to go in on it with you and have the time of your life (designate a driver!).  If you have a company, your logo will be plastered every where.

I'll be 39 on Sunday!  How I got here I don't know, I do know that this is going to be a huge year!  A week after my Birthday I'll be in Boston rubbing elbows with VC's, pitching Phoenix Nest to anyone who'll listen.  Jeremy and Jonah will meet up with me in Boston and we'll all drive out to Cape Cod.  The Burke's rented a cottage on the beach, great place to celebrate Fathers Day.  Can't wait to relax with my friends and watch Jillian, Lindsey and Kelsey dote on Jonah.  Then I'll run home repack and head to our patient population meeting in the Netherlands.   See my birthday wish.
Jill

I'm so done with this day.

 

http://www.youtube.com/watch?v=RPG4w92RgbI&feature=share

I’m so done with this day.  I can’t focus. I need to get some air, but I can’t leave my own private hell.  To many fires to put out.  Mostly ones that I created, I’m good at that.  Sometimes it’s a good thing sometimes it’s a bad thing.  It’s only bad if you can’t clear the smoke away.  It’s just the energy that it takes to clear the air and when you create too many fires in one day, then it sucks the life out of you.

We’re all desperate for answers... the truth, help, and understanding.  We’re all running on borrowed time, our emotions are high; our nerves are rubbed raw. Our Sanfilippo community is as close as family.  I see my Sanfilippo families and scientist more then I see my own flesh and blood. 

Just trying to shake down the truth and find some answers.  I may have rubbed a few feathers the wrong way today.  But at the end of the day our Sanfilippo Community is family.  We need eachother, our childrens lives depend on our ability to work with one another.  We’re more powerful in numbers and we’re up against the hardest battle that anyone could ever imagine.  We’re sheep working with Pharma and the FDA (the wolves.)  It’s hard to tell which representative is just the wolf in sheep’s clothing.  It’s impossible to know, we just have to trust our instincts.

This was my day.

Then I saw this documentary and it put everything into perspective and brought me to a fetal position, I haven’t cried this hard in a year.  This is Jonah’s fate.  I’m working 7 days a week 12 hours a day, to stop this from happening to Jonah.  My families are relying on me to stop the disease from taking their children too.  Watch this mini documentary and you will have a better idea of what we’re up against.  I know all these families but 1 (the family that lost a child)  You should know by now that Elouan and Laura are part of our family

Time to get some running shoes!

For Mother’s Day I got myself a pair of running shoes.  Not making any resolutions here, but I figure if I could quit smoking I can start running.  As usual Ive got more balls in the air then I can count!  Need to run off some steam and clear my head.  Having a hard time prioritizing.  Everything is important.

First up- Salut, Prost, Cheers... For a Cure. Our third annual wine tasting and silent auction event.  Mark your calendars for August 12th.  Stoller Vineyards has been kind enough to loan us their picturesque field again!

Purchase your tickets now and plan ahead, just follow the link.  Snail mail invites will be going out soon.  You should already have the email blast in your inbox.  Don't worry we'll keep reminding you.
We’re doing things a bit differently this year, so check out our event page for more details.  I’m really looking forward to this event a little R&R in OR, is just what the doctor ordered. 

The lineup of wineries pouring is going to be big and bold.  Stoller will be there of course, August Cellars, Walnut City Wine Works, White Rose Estate, Antica Terra, Twelve and J. Wrigley.  Plus more to come.  We're also trying to secure one of our local brewery's to come on out.  The Jake Blair Band, that everyone is raving about will be playing too!

JJB's calendar for the entire year is filling up.  Looking to the future, with the help of JJB’s assistant, Mari (you'll get to meet her at Salut, Prost, Cheers... For A Cure.)  It’s nice to actually start planning ahead, instead of playing every day by ear.  But it means being more organized.  We’ve settled on a few staple fundraiser/events for JJB: Rare Disease Day-Flash Mob in February, Walk in March, Street Fair in June and the Wine Event in July. 

Got a third job now, CEO of Phoenix Nest.  Getting our Biotech startup off the ground, is the catalyst for the need to start running.  I'm looking forward to announcing the launch of Phoenix Nest.   Any time now... Check out the logo that Jen designed on the sidebar!  Heading to Philly in a few days to work out the details for Phoenix Nest.  I'll be meeting with our famed project manager, Sean Ekins and our esteemed scientist Brian Bigger.  Heading to the Netherlands at the end of June, meeting with our European families and all of our scientists.  Days before that trip,  JJB will be honored at the LIFE-academy's graduation ceremony!

Mother's Day at the Bronx Botanical Garden.  I love Foxgloves

However, Peonies are my favorite.

Purple Rose in honor of MPS awareness day, May 15th.

Time to get to work.  Hope everyone had a fantastic Mothers Day and a special Happy Mothers Day to our Mom's Grandma Jan and Grandma Janet.

I have a really good feeling about today.

Life Academy Idol

I'm waiting on more pic.'s and video. 

The HS students at LIFE-academy in Bensonhurst, Brooklyn lifted my spirits up higher then anyone has done since diagnosis. I feel like I can tackle the World today and I needed that lift, this week is gonna be a make em or break em week.

Let me tell you these kids have talent!  I was spell bound by the voices and performances from: Amber Lee, Jordan Knight, Alyvia Juarbe, Jaquae Lewis, Miriam Salazar,  Kiah Armstrong, Kiazi Halpren, Tiffanie Galan, Justin Jagbir, Michael Starks, Jessica Miranda, Mirianna Torres, Andrew Steinwurzel, Thadius Regisford and Mariah Ralph, Alex Vereen Sr., Eric Townsly, Colionne McDonald, Angel Lopez, Theresa McDonald and Juileon Alberion.... These kids brought the house down.

The concert was diverse, funny and uplifting.  I laughed, I cried, I rejoiced. There were solos by: Tiffanie Galan, Mariah Ralph, Miriam Salazar, Mirianna Torres, & Amber Lee... That brought tears to my eyes.

I loved the- The Life Academy Idol skit (I laughed my but off), music by DJ Julieon, dance solos, and tribute dance to MJ.  The show was very well directed, the musical director just so happened to be Mrs. Vereen (Reverend and former wife of Ben Vereen) Ben Vereen made a video for the show, highlighting the need to raise awareness and funds for Sanfilippo.  The sound system and production was donated by Paul Lee, who just so happens to be Shaggy’s tour manager.   The show was a class act and the kids couldn’t have been more respectful and appreciative to our cause.

Thank you Tiffanie Galan, for making this happen and Mr. Mandracchia for supporting Tiffanie’s idea and JJB.

I did a lot to promote the event, via web, press release etc.  But I didn’t twist the arms of any of my friends to come.  I knew it was not a good hour for those of us that have kids.  I sent Jeremy and Jonah home early.  Jonah was loosing it.  Today at school drop off I was really touched by how many of the parents asked how the show was and apologized for not making it (because their kids ate dinner, take baths and go to bed between 6-9.)  I get that... mine too.  Anyhow, I have gotten emails and facebook messages asking how others can support  LIFE-Academy’s efforts to raise $10,000 for JJB. To support “Helping Hands for Jonah” you can make donations through JJB’s cause wish
or you can contact Mr. Mandracchia. mr_m_scienceteach@yahoo.com and purchase a helping hand- hands that the kids are selling and posting on the hallway at their school.  Send Mr. Mandracchia a check in any denomination and mail it to: LIFE Academy H.S. Attention Mr. Mandrachia 2630 Benson Ave. Brooklyn, NY 11214.  Write the check to Jonah’s Just Begun.

The most adorable act belonged to Jonah.  When we were introduced on stage, I started my thank you speech.  Jonah stopped me in mid sentence and asked for the microphone I held it to his mouth.  He started to sing the ABC’s. He passed me the toy he was holding and took the microphone in both hands and proceeded to belt out the ABC’s.  He then took a bow and said thank you.  Priceless. That’s my boy.Helping Hands for Jonah- Cause Wish

Insight from a good friend. Justine gets it, she really gets it.

A few months ago, I stepped off an elevator in Brooklyn to find a beautiful blond haired boy with an infectious smile singing a song as I walked towards him. You would never know that this was the first time that we had met. You would never know that one year ago we were total strangers. You would never know that a rare genetic disease could end his life, long before his time. But, then you would surely not know Jill, his mother, who is fighting with every ounce of fight that a mother has to make sure that this does not happen.

Insult to Injury #PDUFA #FAST

You all know how hard our rare disease community has been working on getting this language added to PDUFA:

"Considerations. – In developing the guidance . . . . the Secretary shall consider . . . . for drugs designated for a rare disease or condition under section 526 of the Federal, Food, Drug, and Cosmetic Act; and (2)how to incorporate novel approaches to the review of surrogate endpoints based on pathophysiologic and pharmacologic evidence in such guidance, especially in instances where the low prevalence of a disease renders the existence or collection of other types of data unlikely or impractical"