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Monday, December 17, 2012

No School Today- Thinking of the children lost

Skipping work and school today in memory of the kids and teachers that lost their lives at Sandy Brook Elementary.  The pain those parents and family members must be going through... it's incomprehensible.

I worry about Jonah everyday, how long will he live?  Will he be in pain?  Will he be part of a clinical trial?  Will that trial be invasive and dangerous?  Will a treatment come in time?  Then I worry about him getting hit by a car. Now a bullet....

When I was 11 my Grandma was diagnosed with a terminal brain tumor.  We lived with her at the time, I watched my brilliant and talented Grandmother wither away.  When my Dad shot himself. I contemplated the only two deaths of my loved ones. I thought that I would rather have someone that I loved go fast rather then watch them slowly demise. My Grandma didn't know who I was at the end.  The last few months of her life she said every day: "I wish I would just die."

My Dad didn't want to live anymore, he didn't want his family to see him depressed or be a burdened on them.  Dad had a gun, Grandma didn't.

Where am I going with this?

When Jonah was diagnosed with a fatal disease. I took back my decision- that I'd rather have a loved one go fast so that I didn't have to watch them die.  I want to be by Jonah's side for every laugh and tear.  Is that selfish?

My heart goes out to those parents that had their children's lives snatched away from them.  I wish I could do more.  Today Jonah and I will goof off all day. We'll play tag and laugh.  Make Christmas cookies and eat cookie dough until we have belly aches.  My little cookie eater is up now, time to get busy goofing off.

Wednesday, December 12, 2012

Stop trying to sell crazy here, we’re all stocked up.

Stop trying to sell crazy here, we’re all stocked up.

Seriously, it’s time to take a break.  It has finally sunk in that Jonah isn’t going to die tomorrow and that he’s in the prime of his life right now.  I might loose my mind working at this pace.  One of my clinicians told me right at the start: “Ally yourself with the medical professionals who can advise you, so that you don’t look like the crazy lady trying to cure Sanfilippo by herself.”

It has been brought to my attention that I do come off as crazy.  Last week I had an appointment with an art director, my friend introduced us and came to the appointment.  I dove into my agenda and needs, never pausing.  When I did finally stop, my friend told the ad exec: “Sorry, Jill’s always like this, I run into her on the street and ask her how she’s doing and she just brain dumps on me.”

I run into friends on the street all the time and give them an update that is way more then they had bargained for.  One friend told me: “Geez Jill, everything in your life is a matter of life or death.”

Last week I was walking Jonah to school along with another parent and his son, Jonah’s classmate.  Jonah started running down the street.  I ran after him.  When the Dad caught up to me, he asked if Jonah always took off like that, I said yes.  He told me that he has a down syndrome nephew that used to be like that, but he grew out of it. He told me Jonah will eventually slow down too. I told him: “Yeah, because the disease that Jonah has is fatal.” He was dumbfounded, not knowing what to say he walked along dazed.  I felt bad, why did I have to say that? 

Seeing myself through the eyes of my peers has helped.  The constant panic attacks that I’m not going fast enough, is going to put me into an early grave.  The icing on the cake Roy’s recorded testimony.I attached the video of  Roy’s testimony on capital hill, a speech that he made to congress leaders, FDA and heads of Biopharmaceutical companies. Watch the video, it might bring you to tears but it will give you a good sense of what it is that families like ours are up against.  For me... It really hit home on a more personal level, enjoy Jonah now.  Reed was diagnosed with type A about 10 months after Jonah’s DX.  During that time, Reed has gone from using his words to express his needs to having to rely on gestures to communicate.

Without a treatment in Jonah’s near future this will happen to my family too.  I don’t want to have missed the good times, panicking. It's a fine line that I live.

The past 6 months have been really rough, Jonah has entered the ‘hyper’ stage of the disease.  I have been racking my brain as to how to deal with it.   I can’t control  Jonah in public settings.  He’s gone in a blink of an eye.  Nothing I can do or say will divert him.  He has no sense of fear, traffic doesn’t bother him, in fact he likes the traffic so much he’ll attempt to get in a car stopped at a red light.

I have given great consideration to getting a service dog, but a big dog in our 600 square foot apartment... A few weeks ago I had to take Jonah out on an errand.  As soon as we got off the bus Jonah saw some older kids running, it was getting dark out and the sidewalk was packed with people.  Jonah took off after the kids, I wasn’t even off the bus yet.  I ran after him, but I couldn’t get the people out of my way fast enough.  Jonah was a few feet away from the curb when a teen aged boy rose to the occasion and caught him just as he stepped into the street.  That’s when I thought of a service dog, the dog could get through the people and grab Jonah by the tail of his coat. People passing by might actually pay more attention to a service dog and try to stop Jonah.

"Hey, I'm a pet."
Eating, chalk.

My Mom designed us vests that we can attach a leash to.  I used it for the first time yesterday.  We were way uptown at the Presbyterian Hospital it’s a HUGE hospital with several connecting buildings, lots of emergency vehicles coming in and out.  The leash was awesome. Jonah stayed within a couple of feet of me.  He still climbed up on the retaining walls and jumped in all the mud puddles available, but he didn’t run into the street, nor did he mind the leash.  He said: “Hey I’m a pet.”

When Jonah ran into the gift shop and tossed the stuffed animals to the floor, the other shoppers politely smiled and picked them up.  When Jonah drop kicked the life sized stuffed dog across the store, the shop keeper smiled and said: “That’s ok.”

I could get used to this kind of understanding attitude, but we were in the Neurological disorders department of a pediatric hospital.  I have yet to use it in my neighborhood, not sure what my community might think.  But like Grandma said they probably will be envious that they didn’t have the nerve to do the same.

It’s been very difficult to absorb the mental changes happening with Jonah.  I broke down and took him to a psychiatrist to discuss meds that might help control Jonah’s impulsivity. I can’t deny that this is happening and it’s only the beginning stages.  Some of the horror stories that parents have of their Sanfilippo kids hyperactivity and fearlessness would make you loose sleep at night.

One child ran into the street and was hit by a car, broke several bones in his body, amazingly he survived.   Another child liked to jump on the oven door. His Mom started to use a bungee cord to hold it shut, one day the system failed and her son jumped on the oven door and pulled the whole oven out from the wall. 

Many families have created safe rooms in their homes.  Our families post pictures of the modifications they have done to their homes to damage control their kids.  Double dutch doors to keep them in one room but within visibility, plexi glass over all book shelves and entertainment centers, one family built a corral around their open kitchen so their kid couldn’t access anything dangerous. Many Sanfilippo children are compelled to push anything and everything off shelves, tables or counters.  These precautions go above and beyond baby proofing.

Anyhow... I’m just trying to paint a picture of what the behavior is like. Now imagine living in Urban New York, where you have to walk everywhere.  The streets and sidewalks are dangerous for those without disabilities.  Walking to school is a nightmare.  Jonah climbs up every ones stairs, tries to open peoples doors, looks into their windows. Jumps in every puddle, runs into every store.  Lays down rolls on the filthy sidewalk.  If he has to pee, he pulls his pants down and pees right there.  When Jeremy or I try to drag him home, Jonah screams: “HELH HELP, somebody save me, anybody.... come save me.”

When not in public Jonah is brilliant and is the sweetest loving kid.  Always happy and friendly.  The Psychiatrist mentioned several times, that Jonah’s disposition was wonderful, he was impressed with how polite and attentive he was.  Jonah sat down and introduced himself, shook his hand and asked the doctor what his name was.  He wasn’t in the least bit stubborn, he answered all the doctors questions.  He drew for him, counted and wrote his name.  I was so proud of him. My sweet little boy. 

Just now Jonah’s speech therapist popped out to tell me how excited she was.  Jonah had just validated her theory of children with auditory issues had problems drawing and describing pictures.  She proclaimed that Jonah did not have auditory issues!  She asked Jonah to draw a couple of different things and to tell her about it.  Jonah drew a car with wheels, a seat and a passenger.  He made the front and back license plate and told her that those were the #’s and letters.  He drew a picture of himself using a different color for his hair and eyes.  His speech therapist was thrilled, his comprehension and attention to detail and ability to express everything he drew and saw was spot on.  He even drew a side walk with a kid playing with his toy.  I tell yeah if it wasn’t for this forsaken disease, Jonah could be anything he wanted to be. 

Normally praise like this would make me want to run straight home and get back to work.  Not today, Jonah and I are going to go home and draw Christmas Trees.  I’ll post this tomorrow.

People are always giving me advice some say, enjoy Jonah while you can, I want to punch those people.  Other frantic parents will literally put the fear of God in you.  “Jill your son is dying before your very eye’s, what are you doing about it?!”  To those I say: “Stop trying to sell crazy here, I’m all stocked up.”  I know what I need to do, find balance.

Wednesday, November 21, 2012

My Heroes

Ryan Dant
Abbey Meyers
My Heroes

Last week I went to the Rare Voice Award Gala in DC. I was honored to be nominated for the ‘Abbey’ award, for my work in championing the ULTRA/TREAT acts.  The Abbey award was a beautiful marble statue of a Mother protecting and standing up for her child. Inspired after Abbey Myers a mother of a son with Turrets Syndrome.  Abbey was the inspiration for the Orphan Drug Act, her story is quite amazing if not serendipitous.  I encourage you to read the history of the Orphan Drug Act. 

After helping to establish the act she went on to found NORD, the National Organization of Rare Diseases.  Abbey spoke at the award ceremony, once again I was moved and inspired by what the power of one Mom can do.  I had the pleasure of meeting Abbey later, this women is a force to be reckoned with, lets just say I would NOT get in her way.

I didn’t win the award and yes it stand’s true it was an honor to have been nominated. I was so proud to be standing with the group of incredible parent advocates and I’m thrilled that my associate, friend and fellow Sanfilippo dad  Roy Zeighami won for his role in driving the ULTRA/TREAT acts.

The event for me was priceless, It was a lovely intimate gala.  Relaxed and small enough to finally get the chance to meet some of my idols face to face.  Ryan Dant.  I tear up just thinking about this young man.  The Dant family embarked on their crusade to save their son Ryan in 1994, Ryan was diagnosed with MPS I at the age of 3, the average life span for MPS I is 10.  Ryan is now in his early 20’s attending college and living a normal happy life.  I crashed his table after having a few glasses to many of wine, I gushed. The poor kid is probably still reeling from the crazy mom, blubbering over him. 

It was so beautiful to sit next to him and talk to him.  Ryan is handsome, charming, bright and happy.  He looks a lot like Jonah but with dark hair and eyes. The MPS features, make our kids look a lot a like. The likeness to Jonah just added to my emotions. Ryan is the first kid to survive MPS I, I told Ryan that I wanted Jonah to grow up to be just like him.  Ryan has no idea how much I cherish him, he gives me immense hope. 

I asked Ryan if he knew how special he was and if his friends new?  He said:  “no, I just want to live a normal life, there are just a few people that I have shared my story with.” 

I pictured Jonah someday saying the same thing.
Here is an expert from an article about the Kakkis and Dant success story.

AS KAKKIS WAS STRUGGLING with drug development on a tight budget, a family in Carrollton, Texas, was facing tragedy. Ryan Dant was an energetic three-year-old when his mother, Jeanne Dant, took him to the doctor for a checkup. The pediatrician noticed Ryan’s head and liver were unusually large. “He had this disease no one had ever heard of, called MPS,” his father, Mark Dant, remembers.
There was no treatment. Severe MPS I kills children before the age of 10; people with milder forms may survive to young adulthood. By first grade, Ryan suffered overpowering headaches and nausea. His liver and spleen swelled to twice their normal sizes. His fingers curled up as the GAG stiffened his joints. He stopped talking about what car he would drive, or anything else related to his future, because he knew he wouldn’t have one.

As in many families faced with rare diseases, it fell to the Dants to seek their own cure. In 1992, they started the Ryan Foundation for MPS Children, eventually raising thousands of dollars through bake sales and golf tournaments. But they weren’t sure what to do with the money.

Emil Kakkis is to the Dant family as Alexey Pshezhetsky is to my family.
I also got to finally have some face time with another Hero father John Crowley, the Crowley family have two children with Pompee disease, another one of the lysosomal storage diseases. After driving a treatment for Pompee this dad went on to form Amiccus a biotech that focus’s on chaperone therapies.  A chaperone has been one of the treatment options that Alexey has been perusing for us. I told John about this and he promised to reach out to Alexey and share his expertise.  Alexey was happy to hear about the connection, wanting to speak with Amicus for some time.  John reached out to Alexey yesterday, it’s always nice to know the CEO.  Check out the movie Extrardinary Measures, based on the true story of the Crowley family.

Speaking of Alexey, I may have not won the Abbey, but Alexey did win the award he was nominated for, The Champion of Genetics award for 2013! 

The nominees must meet this criteria: For the purposes of this call for nominations, translational research is defined as a way of thinking about and conducting research that moves basic research more efficiently into medical practice, with meaningful health outcomes. It is about harnessing the knowledge from basic science to produce new options for the prevention or treatment of disease, be that through drugs, diagnostics, or devices.

Alexey received the award based on his work in rare genetic diseases affecting children, including MPSIIIC.  I’m sure Alexey will be winning a lot more awards for his work.

Have a wonderful Thanksgiving!

Monday, November 5, 2012

The Hurricane VS Halloween.

We had so much fun at our Halloween events.  We celebrated party #1, the eve of Hurricane Sandy, despite or inspite of the pending Hurricane we packed the house at the Ceol bar .  Our friend Channon planned the whole party and our friend Loretta, proprietor of the Ceol Bar and Pub, donated her dining area at Ceol for our use. 

There were several awesome kids vendors that came out.  Joanna of Cheeky Monkey Party, came with her bag of goods- tons of kids party games and crafts.  Jonah had a blast playing with the home made robots from the Brooklyn Robot Foundry, this place is so cool.  They make robots out of repurposed motors, batteries and recycled materials.  They came with a big table and a bunch of little robots, Jonah was memorized.  Our favorite kids musician Pete from the Hootenanny Art House came out and brought down the house.  We had bobbing for apples and face painting.  On the way out the parents told me it was the best Halloween party that they had ever been to!  One family said to me we had so much fun, we owe you more money, can I make a larger donation??

It felt good to do something domestic and celebrate a holiday.  I baked, made goody bags and planned costumes.  I haven’t done anything like that since diagnosis.  I’m very much indebted to our community for initiating benefits for JJB.  Thank you Channon & Loretta from Ceol,  Jane and Kenzie from Work Space, for party #2!

On Halloween we had a benefit at Work Space, Jonah’s Physical and speech therapy studio.  Jane and Kenzie our therapists, set up a Spooky Maze, an obstacle course for the kids.  I was very touched to see our friends come out to support JJB.  It was really cute to see Jonah come up with his sitter all dressed up and ready to go Trick or Treating for the first time.  He loved the maze, crawling through tunnels balancing as he walked over a ‘rickety bridge’ over the mote and seeing old friends.

The events leading up to the Work Space event did not go as planned.  I had left a lot of loose ends to tie up on Wednesday, thinking Jonah would be back to school, by then.  Which he wasn’t, trying to pull everything together, was difficult with Jonah wanting to ‘help’.  Then I couldn’t get a ride to Work Space, all the car services were tied up because of Sandy.  I was stressed and late to our own benefit.   Jonah’s sitter Gabby, ran outside for me to try and hail a cab, while I called every car service in town.  Gabby actually caught one for me.

My volunteers couldn’t make it, no transit. Again Jonah’s sitter Gabby came through for us. Gabby had a house guest Rebecca, staying with her.  Rebecca was touched by our story and wanted to come help, she hopped on her bike and sped over. She helped set up, passed out goody bags and helped the kids through the maze.  On the way out I realized I had for gotten my coat, it was freezing out, no way to get a ride home.  Randomly enough Rebecca had two coats on her.  Here’s this stranger I had never met, coming to our rescue spending 3 hours helping and then she literally gives me the coat off her back. To top it off I get home and Gabby refuses to take payment for the evening, her way of donating to JJB.  It’s people like Gabby and Rebecca, that make the World a better place.  You know I know what it’s like to benefit over and over from the kindness of strangers. I hope that I can pay it forward for someone else in need.  Hence my next story.

I’m ashamed to admit that I was completely clueless of the destruction that the hurricane had caused and the ramifications that we’d feel for a long time to come.
We don’t have a T.V., when Jeremy told me the storm was coming, I didn’t take it seriously.  To many other things on my mind, I live in a Sanfilippo fog.  After the storm Jonah was out of school all week. I didn’t get a chance to check out the news reports online until the weekend.  I was horrified to see what had happened to Staten Island, Long Island, NJ, Red-hook...  Mass destruction and loss of life.  It’s such a shock.

Imagine closing on your first home, moving in and decorating the nursery for the baby your expecting in a few weeks.  A new home with a yard for your eldest to play, while she waits for her baby sister to join her.  The American dream, then a hurricane comes along and completely destroys your home. This is what has happened to friends of ours.   Their plight has forced me out of my Sanfilippo fog and reminded me that unfathomable tragedy comes in many forms. I feel guilty for shrugging off the storm, we could have purchased a home in any one of the areas that got hit.  Instead we landed on a hill, far enough away from the water, to have sustained any serious damage.

For those that have wanted to help and just don’t know where to give, here is a wonderful family that needs our help.  A family that has been very supportive of JJB.  To help, click here.

Election day is tomorrow! Much of what JJB and our rare disease community have been working so hard for, has a lot riding on this election.  My mind would be at ease to know that people like Jonah who are dependent on expensive and life long treatments will be protected.  Knowing that we have a president that believes in and understands the value of science would be a huge stress relief.  Our rare disease community works extremely hard at improving public policy in regards to rare disease legislation.  It would be nice if we had a government that appreciated the work that we’re doing.  With all do respect, on Thursday I’d love to go back to my Sanfilippo fog for another four years, with a peace of mind that we have a president that has our back.

Hope for the best prepare for the worse.  My new motto.
Cheers, Jill

Thursday, October 4, 2012

Rebel with a Cause

I’m very much relieved that we won $20,000!  Thanks to all the begging and the harassing of our friends, family and community.  This was a grassroots effort, thank you all for helping.  We could not have done it without you.  There were 30,000 charities nominated and we placed 63rd. Not bad.

The contest just about broke me.  Pounding the streets soliciting votes from my neighbors, stalking the playgrounds passing out flyers to the parents and nanny’s. Having to tell them: “My son Jonah, has a fatal genetic disease, would you please be so kind to vote for him on facebook.”

I’m glad the contest is over, It’s hard to even write this re-cap.  But I need and want to say thanks to all of those who went above and beyond to help JJB win this.  Many of you stood by me passing out flyers, making phone calls, licking stamps and relentlessly harassing your FB friends to vote and for that I can’t thank you enough!

A friend of mine had a brilliant idea.  The last day of voting marked the first year anniversary of Occupy Wall Street.  Vanessa suggested that we take our cause to Wall Street.  What could be more appropriate??  JJB is in existence because our government doesn’t have the funding to help further the science.   Big pharma isn’t interested in producing a treatment for a rare disease. 

So here Chase is offering to give 196 charities a cut of five million dollars. A popularity contest... who can get the most votes on facebook. In return Chase gets to see your age, race and sex and they get good PR props.  I get to promote Chase and in return win $$.  The price you pay to save your child... Obviously I’d do it again in a heart beat.

So I made up some sandwich board signs. ‘Citizen Scientist’ a rebel with a cause.  Our government has turned their backs on our children.  Big Pharma doesn’t see the profit margin and Chase is using us for marketing.  It would have been brilliant, but occupy wall st had ended the day before.  So we hit Union Square instead.  We raised lots of eyebrows and got a lot of questions.  Hopefully it brought us a lot of votes too, but more importantly we made people think.

Jonah and I just got home from a whirl wind trip to CA, where we met up with my mom and Jennifer.  Jennifer hung out with Jonah, while Mom and I attended the RARE | Global Genes Project- Summit and Gala. I’ll give a better re-cap about the brilliant and amazing conference when I have more time.  I want to mention one thing  that has really hit home for me over the last month.

I along with 4 other parent advocates were asked to speak on the summit panels.  We each had different topics to touch on, but we all mentioned that we raise funds for medical research, everyone also mentioned that they have never received any federal aid.  These 5 groups have raised millions for medical research. 

Here we are driving the science and creating our own biotech’s.  We’re all on the verge of saving millions of children’s lives.  Meanwhile we’re creating jobs and saving our government millions.  So I ask... Where is our government bail out?  I guess the CHASE grant was it.

Tuesday, September 18, 2012

Treading Water-2 Days left

Treading Water!

We’re hanging in there by the skin of our teeth.  Please hang in there with us.  Just 2 more days of voting and this contest will be over!

We may have lost hold of our $50,000 grant but we’re hanging tight on a $20,000 grant.  That money is already spent.  We made our September first payment to our gene therapy scientist in Manchester, but we still owe Alexey $35,000.

I had really hoped to win at least $100,000.  There is a Genistein trial that is shovel ready in the UK.  All they need is 600,000 pounds to make it happen.  Lots of people have mixed feelings about Genistein.  Jeremy and I had Jonah on it for about 6months when Jonah was first diagnosed.  It was expensive and honestly I was afraid of giving my baby something that I knew nothing about. 

Two years later, Jonah is slightly showing the traits of Sanfilippo. His hair is changing texture.  He’s more aggressive and very impulsive, he has no fear when it comes to cars.   His sinus’s have gotten  bad, last winter was horrific.  So we put Jonah back on Genistein.  We could see an immediate difference, Jonah is more pleasant and less combative and his sinus’s have been good.  The thing is we’re really just guessing on the dosage.  We don’t have clinical data on the storage accumulation, is it lowering??? We won’t know until we get a trial and really look at the data.

Yesterday I purchased 6mo of Genistein for $2,600! This was for my French friends they have 2 MPSIIIC kids.  That’s another problem the pure form of Genistein is considered a food supplement in the US so the Americans can get it.  Meanwhile I’m shipping it to my friends in Europe who in turn have to pay taxes to get it out of customs. If we had a trial we could get it approved in other countries, insurance would pay for it and the overall cost would go down.  600,000 pounds doesn’t sound like much for a treatment that quite possibly will slow the progression of the disease.

Back to the contest.  It was a lot more work then I had imagined, but the idea of winning big $$$ drove me to give it my all.  I hit the streets soliciting votes from strangers for days.  Tomorrow I’m going to wall street and pitch my case that we need to win back some of the money that CHASE stole from us.  So that we can pay for research and clinical trials that our government ignores and big pharma turns their back on.  With a patient population of 1/1.4 million we are the underdogs, no one see’s the benefit of creating a drug for us.  This will be my grand finale for the contest.

The most wonderful part about the contest was the help that I received from our community and friends abroad.  We raised so much awareness!  We made several new friends, friends of friends just learning about Jonah and the disease. I was really touched to see children in the neighborhood asking for votes at their schools and playground. We even had helpers set up a lemonade stand so that they could spread the word.   I didn’t feel alone, new friends and old friends had our back.

With that said if you could all just rally the votes one more time, we’re in the home stretch. Wednesday at midnight is the last of it. We’re so close to making our last payment to Alexey and it cost the fb holder nothing, just a moment of your time.

For CHASE account holder you get 2 more votes, click here.

To earn a bonus point cut and past this link to your timeline.
Don’t forget to check back to JJB’s CHASE profile to see if you got it.

and remember to use your second vote for our friends the Sanfilippo Research Foundation.

Monday, September 10, 2012

What an awesome day!

What an awesome day.

Fall is in the air, it’s cool outside.  Dropped Jonah off to hie first day back at school.  He has a new classroom and teacher.  8 of the 12 kids from LY are in his class.  He was a bit apprehensive at first, but he ran in and said hi to all of his friends.  He gave me a great kiss and hug goodbye.

I woke up to a ton of votes on our CHASE Community Giving.  We had the highest voting day so far. Yesterday I went from parent to parent at the playground, passing out flyers and asking for votes.  I tell yeah, having to tell a stranger that your child has a fatal genetic disease is gut wrenching-tear jerking stuff.  I had to take a deep breath and leave the park.  I gave myself a pep talk and headed back in.  It worked though we got a bunch of votes.

If anyone wants to help me out with our guerrilla campaign- passing out flyers on the street and asking for votes... Let me know and I’ll get you a bunch of take away flyers.
We’re struggling to keep our $50,000 payout rank.  We need to be placed at #46 to win $50,000.  The top prize is $250,000 and the following 9 are $100,000 payouts.  We could get into the top ten if everyone voted and spread the word.

In other good news.  Jonah and I will be going to California at the end of the month.  I have been invited to the Global Genes gala and summit.  I’ll be speaking on one of the panels.  The organizers were in love with the pic’s that Dodi took of Jonah while in OR, their blowing one up as a poster.  There will be hundreds of who’s who is the rare disease community there all looking at my adorable boy.

I was also nominated  for an award for the Leadership in Advocacy presented by the Association of University Centers On Disabilities.  They’re a network of interdisciplinary centers advancing policy and practice for and with individuals with developmental and other disabilities, their families and communities.  Not sure what happens if I win it, funding would be nice.  However the nomination itself is an honor.

I submitted a poster to be presented at the NORD/DIA conference.  I hope it’s accepted.  Since my first conference I wanted to have a poster for one of the poster sessions flanked by scientific posters presented by PhD’s.  We also applied to speak about Phoenix Nest-JJB-ODDT and the Partnering for Cures conference.  I’m pretty sure we’ll be accepted for that conference.

Lots of exciting stuff going on.  Most importantly, Jonah is happy and healthy.  Back to work.  I’m absolutely obsessed with winning a huge grant from CHASE.  SO pretty please vote for Jonahs Just Begun and Sanfilippo Research Foundation.  You only have to vote once and you only vote for 2 charities.... Unless you have a CHASE account then you can vote 2 more times!

Just follow the links:
Jonahs Just Begun
Sanfilippo Research Foundation
p.s. VERY IMPORTANT.  Remember to promote.  Once you cast your vote hit like and send to all of your friends!

Thanks in advance,

Tuesday, September 4, 2012

This Thursady the 6th!

This Thursday the 6th.  Voting begins on FaceBook.  Jonah’s Just Begun and our friends at Ben’s Dream also known as the Sanfilippo Research Foundation will be competing in the CHASE Community Giving contest.  The grand prize is $250,000 there will be another 10 charities that receive $100,000 the other 190 winners will get Between 50,000 and 10,000.  You all know what prize I’m shooting for!  $250,000 would pay off our gene therapy research with plenty left over for another project!

We have between the 6th-19th to vote.  Each FB holder can vote for two charities and you only vote once.  I’m asking that you vote for Jonahs Just Begun and Sanfilippo Research Foundation aka Ben’s Dream.  If you have a CHASE account you can vote through your  online account.

So please put your hatred for CHASE aside, they’re willing to help us save our kids.   Go to the Chase Community Giving pg. and like the page Allow the app and vote on Thursday.
Here is another link that will take you some instructions and a link to JJB’s profile page.

Salut, Prost, Cheers... To A Cure was a beautiful event.  I have to thank my organizers:  Mom, Melissa and Carole who bust their butts to pull of another gorgeous event.  It was really very lovely.  Our in house photographer Dodi Holm from Rustic Pear Photography, took a ton of pictures, she’ll have them up for review soon.  Meanwhile check out the adorable pic.’s she took of Jonah at the Kirkham’s farm.

The Jake Blair band was freakin’ amazing and the wine was exceptional!  Such wonderful people for coming out on a hot day to pour for us.  I can’t them enough, their generosity makes the event.  A few days after the event I took my friend Mari out to taste some of the wines that we didn't have time to taste at the event.  We stopped at White Rose, I won't play favorites but I have to say not only is their wine superb, but the people working there are wonderful.  I introduced myself to Diego as Jonah's Mom.  He knew exactly who I was and said it was such an honor to pour for us.  That they had been there every year so far and to count them in forever.  Mari and I asked if they happened to have an Iphone charger, he said no but that he had one in his car.  After the other patrons left Diego went out to his car and brought us his car charger.  He just gave it to us to keep!  I gave him a hug and went to pay for our tasting and he refused to take our money.  Now that's good people!

We also had a brewery this year, Fire Mountain Brewery.  I was really impressed with his beer, delicious.  Wish I could say the same for the food. huhum

Next year is already being put together.  Same place Stoller Family Estates, we will definitely have to bring a brewery back and I hope to have all my wineries back again.  Jake Blair's band has already signed on and we’re working out a date so that Willamette Valley’s BBQ master The Ribslayer, can serve us his pulled pork sliders and stuffed Portabella mushrooms.

I was touched by all the adorable crafts that my nieces made to sell, which brought in quite a bit of money.  We had lots of wonderful jewelry for sale and tons of handmade crafts inspired by locally grown lavender from the Meddici Vineyards,  The Meddici’s lost a great grand child to Sanfilippo and so were happy to be a part of the event.  The esteemed Dr.  Bob Steiner gave a moving and inspiring talk on what it means to the community to fundraise and bring awareness to rare diseases.  The auction items were inspired by the Willamette Valley, lots of wine donations and local art and beautiful quilts by my aunts.  Several families from Oregon's rare disease community came out.  Aimee even graced us with her presence this year!

I have lots more to tell you all about, but I have a feeling you’re going to be overwhelmed with all of JJB’s communication over the next few weeks.  Be on the look out for our email with your voting instructions.

Hope you all enjoyed a wonderful summer!  More soon.

Ok one last story. May 2010, diagnosis week Mom.  Jeremy and I got the news, we wer stricken, crying non stop.  I started googeling for other families affected by the disease.  I found this clip
It just about broke my heart, but I took Jennifer's advice and I turned that negative and made it into something positive. The Siedmen family were the folks that gave me the idea to create Jonah's Just Begun.  It's an honor to be running with them and I  hope we both win big $$.
This interview was done in 2007.  Ben doesn't walk anymore and Noah has gone off to college.  Ben's logo is of a barn, when Ben said he wanted to be a farmer when he grew up.  The photo shoot at my friends farm reminded me of the photo's of Ben playing on the farm, before he got sick.

Thanks in advance,
Jill for JJB

P.S. This just in.... There are 2 more Sanfilippo Foundations that just decided to run too.  Sadly we can only vote for 2 foundations.   I hope they can make it into the top 100 with the support of their communities.  More $$ for Sanfilippo research.  JJB however has made a commitment with our friends at Ben's Dream and will be supporting them in all of our promoting.

Wednesday, July 25, 2012

Recap of MPS symposium, Netherlands. By: Raquel

The 12th International Symposium of Mucopolysaccharidoses and Related Diseases took place between June 28th and July 1st 2012 in the Netherlands. By: Raquel Marques of Portugal

The conference was intense and productive. We used our free time to have private meetings and informal conversations with some researchers: Graciana Diez-Roux/Andrea Ballabio (Italy), John Hopwood / Kim Hemsley (Astralia), Gregourz Wegryzn (Poland), Brian Bigger (UK), Alexey Pshezhetsky (Canada), Jerome Ausseil (France) and make an update on research. 

To the researchers was also very important to meet us as well as our children. They feel how important are they to us. They stop seeing cell lines only, and start to see people too. John Hopwood, during our private meeting, finally got his own camera and took a picture of our group of Sanfilippo parents!

We devoured information. Our heads were spinning! Strong emotions, as always. I laughed and cried!
Seeing all the families around us , with some severe affected children, always give me a bitter / sweet feeling. Beautiful love stories , that sometimes carry me to an unknown future…

For MPSIII, was very encouraging to see how science is changing and how many progresses were made in genetic disorders. In the last couple of years, three types of treatments for MPS disorders were arisen and so many others are close. Seeing so many routes on research for MPS III and so many people around the subject, made me motivated. To go on!

Here are a few of my notes, most related to Sanfilippo:
- Brian Bigger
Everything is ready for a clinical trial with pure synthetic genistein in Manchester, UK. If they could get funded now, they could start tomorrow. The problem is that there are still 580.000 pounds missing and it is becoming really difficult to get this funding. As parents, we promoted several approaches amongst the Polish, the British and the Dutch to try to get an understanding and collaboration and finding a solution for the funding that is missing.
The principal investigator of the trial will be Simon Jones (Manchester).

B. Bigger also explained his project on pre-clinical studies of lentiviral haematopoietic stem cells transplant in MPSIIIA mice and the success on the results. Before proceeding to clinical trial, further studies are needed regarding toxicity. Brian Bigger will test the same therapeutic approach for type B.

- Alexey Pshezhetsky/ Brian Bigger – gene therapy (type C)
A new post doc was hired to work on the project, starting next September in Manchester. The rats were characterized in Canada, are considered good models and traveled to the United Kingdom.
At the moment, the type C colony C is prepared in Manchester. They already have the vectors that are going to be used. Within six months (starting from September), so by March, the plan is to inject the mice with the gene. Fingers crossed it will work!
Moreover Alexey Pshezhetsky has shown in its presentation that type C is slower to progress, compared to A and B, due to less accumulation of heparan sulfate.

- Graciana Diez-Roux / Andrea Ballabio
As in Geneva, Graciana came and spoke with our group, this time with Andrea Ballabio.
Ballabio explained the work that is being developed with the TFEB. He found that there is a 'master' gene that controls all functions of the lysosome, once it’s activated, promotes cellular clearance. This has been demonstrated both in vitro and in vivo, in animal models of various lysosomal diseases, including MPS IIIA mice.
He said this approach is a very promising therapy, but still in early stages, because they have to figure out the next phase, where does the eliminated material goes? To the bloodstream, urine? They have to find out ...
Moreover, in TIGEM’s lab, they were sponsored by BioMarin that bought a huge 'screening' machine, to find molecules that can activate the TFEB. At this time, they have screened 1500 molecules and had 150 hits. This is the first step, because from this 150, some can be used and some cannot. For example, if a molecule enables TFEB, but if kills cells around, it doesn’t fit. So the hits that they’re getting, are being subjected to various tests: activation, toxicity, etc ...
Ballabio used to work as a pediatrician, is a very sensitive person and passionated with his job. He chose investigating LSD’s because he wanted to help somehow families with affected children, that he was following as a doctor, some years ago.

- John Hopwood / Kim Hemsley –Australia group
They were very kind and made us an update on the project that TeamSanfilippo / StopSanfilippo started funding in February. They are studying pathology in Sanfilippo, what happens in the brain, can damage be reversible, what is the percentage on the production of new cells, are new cells healthy, etc ...
The project is moving fast. They concluded cells staining and are now studying cells movements. Marioko (the Phd student) took pictures of each stage of the project, showing all the specialized equipment used to cut parts of the brain slices (like salami), how it is weighted, etc..

Tracking cells will allow to know: how many cells are produced, what path they take, how they divide, if the new generation of cells are healthy, what kind of cells are created....

Now that they have stained cells, will try to get answers to all questions. The stained cells are growing in cultures. Let's wait...

- L. Calogera Simonaro – Monte Sinai school Medicine USA
With her presentation "Activation of the TLR4 pathway in the MPS: potentials for therapy"
Dr Simonaro demonstrated that the use of a molecule that is both FDA and EMA approved, polysulfat pentosan (PPS), had excellent results in MPS VI rats (bones and muscles) - the before and after videos had huge differences!  PPS reduces the inflammation in the cells, reducing the severity of physical symptoms. MPS VI does not have neurological involvement like MPSIII.
We spoke with her, and she told us she was open to test the compound in MPS III mice, to see if the PPS can cross the BBB.

- F. Wijburg, G. Ruijter – AMC Amsterdam
His presentation 'Heparan sulfate in plasma and GAGs in urine correlate with disease severity in Sanfilippo disease', proved that there is a correlation between the plasma gags level and severity of the disease.
Lower HS levels in plasma and urine - more attenuated - less severe

On the posters section, one of them had the first results of Barbara Burton’s study 'High Dose Synthetic Genistein Treatment in MPS Patients with Neurological Involvement' . They used pure synthetic genistein at high doses (150 mg / kg / day ) in MPS II and MPS III patients. No side effects were observed and the product was well tolerated.

On another note, there was also Wegrzyn’s poster with his discovery that genistein enhances expression of TFEB, a regulator of lysossomal biogenesis.

-Regarding Lysogene’s gene therapy clinical trial, taking place in France for MPS IIIA, there was no presentation. Although, all four patients have been enrolled. However regarding the efficacy ,results will come out next year.

Below is a very useful link, were some videos and presentations from the conference are available:
Thanks to all of you, whom have supported our cause, science goes forward. Thanks to your help and contributions, every day researchers make progresses. THANK YOU!- Raquel

Raquel... I would be at a complete loss without her.  Over the course of two years I have gotten to know her very well.  We skype at least once a week.  We have met each other in 7 different countries, stayed in each others homes and shared hotel rooms. Giggled like old school mates and cried like desperate Mom's. 

Raquel is Portuguese she speaks perfect English; her French and Spanish is getting there. She's a beautiful soul and I'm so very thankful to have her in my boat.  Raquel has 2 daughters, Joana is 8 now and her little sister Sophia will be celebrating her 4th Birthday on the same day as Jonah (July 30th.)  How time flies.  For Jonah and Joana the clock is ticking.  Joana was born on leap year, so she's really only 2. :) So we like to tell ourselves. -Jill p.s. I don't know why the white box is there, it is a glitch.

Thursday, July 19, 2012

The perfect storm

The Perfect Storm

Dishwasher broke, IPad broke, House Keeper went on vacation and Jeremy flat on his back for two weeks; after having a handful of kidney stones surgically removed.  The saying holds true, "you don’t know what you got until it’s gone."

Jeremy is healed now and back to work after four months of no full time job and we’re broke.  IPad is at the repair shop still no cleaning lady and dishwasher still broken.  It might sound like I’m a princess, in my defense I did close out Jonah’s college fund, cancelled my subscription to the Y and we turned off the cable.  These are the things and people that help me get my job done.  My support staff.

Jonah on the other hand is doing great, the sinus infections have magically cleared up. He’s loving school and his friends.  He begs for road trips to go see his cousins (5 hours away.)  Can’t wait to take him to Oregon in a few weeks.  Jonah is an awesome traveler.  He easily adjusts to where ever we go.  We’re planning his 4th Birthday, I’m actually ok with it, I haven’t been able to throw him a party for two years. I let grandma take care of it.  But Jonah is doing so well academically, emotionally and physically.  That I’m not so panicked about his age.  So despite the household system failure, we’re doing pretty well.

The Netherlands was bitter sweet as usual.  Good to see my friends and talk to our scientists, everyone is very optimistic.  I’m happy with how much science is happening for us now.  It’s just hard to accept that we’re years out from any trial. Our group of parents are doing everything we can to drive all the science we can.  Raquel is going to give us the recap on what we learned from the Netherlands conference.

My European families have been feeling the recession.  Sanfilippo Sud’s 2nd annual concert fundraiser was a big disappointment.  Last year they raised 20K this year they raised 4k.  So I’m a bit nervous about our wine tasting event.  JJB has a big chunk of change to make up by our September 1st payment.  On that note if you got one of our dozen invites for Salut, Prost, Cheers To A Cure.  The wine tasting event and silent auction is taking place on the 12th of August.  This is an open event so please pass along your invites to friends.  Despite the fact that it’s for a great cause it’s an awesome deal. Twelve wineries that are spread out through the Willamette Valley all in one place.  Plus Fire Mountain Brewery and awesome band.  Not to mention Cafe Uncorked will be catering the small bites. We’re still taking silent auction donations and there are a few more tables up for sponsorship.  A great opportunity to show the community your support and to network.  BTW I did work in sales for 20 years, the pitch comes naturally to me. ha

I have some huge news.... we launched Phoenix Nest on Monday!  It actually feels a bit anticlimactic, I should be thrilled that I created a new company a freaking virtual biotech no-less!  I’m a CEO of a biotech, doesn’t that get you some sort of honors at your HS reunion or something?  Under any other circumstances I would be giddy with pride and probably a little nervous.  But I’m neither it just feels like the next logical step.

So what’s a virtual biotech?  We’re a “dry” lab meaning that all the work is sourced out. Phoenix Nest is here to ultimately facilitate a clinical trial.  While we wait for the science to catch up.  We will continue to write small business loan grants to help continue funding of our research and to gain Intellectual property.  In the mean time I’m seeking angel investors to pay for the management teams salaries and lawyer fees.

The name Phoenix Nest comes from the mythological bird that made its nest
from frankincense, myrrh and spices. In essence, the bird’s nest is a pharmacy; and the virtual
biotech, Phoenix Nest, wants to provide a place where
parents can find treatments for their sick children.

To leave you in good thoughts:  My neighbor had a stoop sale for JJB (a stoop sale is the brooklyn version of a garage sale.)  They had a stroller priced at $50.00 a customer stopped by and said: “50.00 bucks and this is for charity?”  Reply: “yes”  Customer: “would you take $100 for it?”

That brought tears to my eyes. Customer... who ever you are thank you!

p.s. We’re taking donations for the silent auction if you want to donate contact Janet at

p.s.s Wineries Pouring: Stoller, Anderson Family Vineyards, Antica Terra, August Cellars, Brooks Wines @brookswinery, DePonte Cellars, Daedalus Cellars, Hyland Estate, J. Wrigley, Twelve, Walnut City Wineworks and White Rose.

p.s.s. Thanks to our sponsors:
Want to add your companies name to our sponsorship? Check out the benefits on our event pg.
D Sands Motel & Bend Riverside Inn and Suites
Mailey's Mercantile and Cakery
Chiropractic Physicians Clinic
Andrew Physical Therapy
Navarra Gardens
Oregon Wine Services and Storage
Wood Mark Homes
Barrett Town & Country LLC

Tuesday, July 3, 2012

We stormed the Castle

Nicole Bioce or the RARE project, me and Julia of RDLA.
We stormed the castle. 

I wanted to get this blog out before I went to the Netherlands,  which didn’t happen.  Consider this installment #1 of 3.

Two week’s ago I attended a ginormous bitotech conference in Boston.  The conference offered 100’s of sessions on how to become a biotech it was like Bio 101- just what I needed.  There were so many classes going on at the same time, it was hard to choose.

Attending the Biotech conference was much different then attending a scientific conference.  I imagined that I’d feel out of place.  I thought- where do I get off being the CEO of a virtual biotech?  But it wasn’t like that, I ran into a handful of biotech friends and I realized I was surrounded by people who admired me for what I was doing and were more then happy to lend me a hand. I accomplished what I set out to do and I took a lot out of the conference.

The first night of my trip to Boston I met up with my friends from RDLA Julia Jenkins and Jen Bernstein,  Jen is a lobbiest she works for companies like RDLA and Ammicus.   Stephanie Fischer, the director of communications with BIO was there along with a couple of other patient advocates like me. My new best friend Nicole Bioce of the RARE project, graced us with her presence.   We all had a lovely dinner at a beautiful restaurant and who should be sitting at the table across from us... The mayor of Boston!  So of course we had to bend his ear and get a photo opp.

So there we all were when Julia received confirmation via Iphone email that indeed our accelerated approval language from the ULTRA & TREAT acts actually made it into PDUFA V intact.  I can't get over the timing of the announcement and the coincidence that I was with the people that wrote the legislation and lobbied for it.  I don't believe in coincidences anymore.

While my lobbyist's friends celebrated their personal victories.  I was overcome with emotion, this legislation is literally half our battle and I can't believe it fell into my lap.  Again coincidence?   Many other rare diseases have gone up against the FDA and lost... Thousands of children have died while waiting;  gathering the time consuming data for the FDA when lifesaving treatments were ready for trial.

I reminded my friends why they did this, it's not about concurring the FDA or proving our op posers wrong.  It's about the families, families like mine.  This legislation just doubled our chances for saving our kids, saving Jonah.  They just opened the FDA's doors wide open for us.

Thanks to all of my friends and family and to the many other disease groups that sent in a record breaking amount of calls and letters to their legislators.  The grassroots effort of the rare disease community won and we won big!  Thanks for being a part of the movement, we couldn't have done this without the constituents support.  Here are the specific's.

Page 92:
‘‘(B) EVIDENCE.—The evidence to support that an endpoint
is reasonably likely to predict clinical benefit under
subparagraph (A) may include epidemiological,
pathophysiological, therapeutic, pharmacologic, or other
evidence developed using biomarkers, for example, or other
scientific methods or tools.
Page 94:
(3) CONSIDERATION.—In developing the guidance under
paragraphs (1) and (2)(A) and the amendments under paragraph
(2)(B), the Secretary shall consider 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.

The conference was electrified due to the timing of the PDUFA V finalization.  I was sitting in a session where John Crowley of Amicus Pharmaceuticals spoke (John’s life was made into the movie Extraordinary Measures with Brendon Fraiser and Harrison Ford.)  The rest of the panel included Anne Pariser the associate director for Rare Diseases @ the FDA.  The session was moderated by Wayne Pines the president of regulatory services and Healthcare. Pines asked the panel of Pharma CEO’s:  "What was the most important piece of language added to PDUFA?
The three pharma peeps unanimously agreed that our accelerated approval language was the most important piece of legislation.

Anne from the FDA just scowled, you could cut the tension with a knife.  Then our fair feathered friend Tim Cote, the x director of the Orphan Drug Dept @ the FDA,  stood up and asked the panel: “So what now... does this mean the rare disease community should flock to the FDA?”

Someone in the audience replied: “Yes!  It’s time that the groups with treatments put pen to paper.”  (Meaning it’s time for us to start writing our IND’s.)  Tim Cote is the man that was in the GMA interview with me at the time he supported my stance.  I was naive then I didn’t realize that he was just placating me.  Tim wasn’t asked back to the FDA when his contract was up....

Several of the sessions went on like this.  The Super Session facilitated by Margaret Anderson the director of Partnering for Cures (the conference that I met Sean at.) The panel included the Medical Dean of Harvord, Sanofi and Lilly Pharmaceutical bigwigs, Francis Collins the director of the NIH and Janet Woodcock the director of the FDA. 

The conference started out on a contentious note.  Francis told us how broke the NIH is, that there is less and less funding for them.

Janet Woodcock told the audience:  “The FDA approves 80% of the drugs that are approved for clinical trial.”  “So clearly we’re not the problem.”  (She was accusing the FDA for not supporting them more.)

I guess that means that it’s the problem of the families suffering with an Ultra Rare disease.  Since we’re funding research for an ultra rare disease that doesn’t have the clinical data needed for a clinical trial and never will because our kids don’t live long enough to get the data.  I guess we’re all just SOL.  Not anymore, thanks to the new language in PDUFA V.  Look out Janet here we come!

RDLA Poster, never mind the random beer. Jonah is on the upper left corner. I'm standing with my representative Nydia Valesquez.
All in all the conference was awesome!  I ran into so many people and made several new  connections. The RDLA had a booth, their poster featured pictures of my family lobbying on Capitol Hill.

To top the week off I took the bus out to Cape Cod from Boston where Jeremy and Jonah met up with me at the Burke's rented cottage.  I had the most blissful weekend.  No internet access, a forced vacation.  Jonah had a the time of his life hanging out with the Burke girls.  Kelsey was at Jonah’s beck and call.  They adored each other. We all swan in the ocean, relaxed and convalesced.  Being with the girls helped me adjust to the disease. 

For better or worse: "We're all in."
The girls are all in different stages, regardless of the progression the young ladies are all beautiful, even without communication you can hear their souls talking to you.  You know that behind the disease they’re all dynamic women and would have excelled at everything they set their minds too.  I greatly admired them, I looked passed the disease and felt with my senses. I could see the person that they were supposed to be. 

Life has dealt the Burkes an unbearable deck, but they hold their heads high and get up everyday, for the unconditional love of their girls.  I have nothing but the utmost admiration for Paul and Nancy.  They work together like a precision clock, they never sat down. Moving from one girl to the next constantly picking things up and preparing for the next activity.  They didn’t skip a beat. I wouldn’t say that they have accepted their fate, they keep the hope alive.  But the happy moments are few and far between. 

Lindsey doesn't talk much now, since her illness last year.  She woke up before Jonah did and came to me.  She looked at me intently and carefully posed her question: "Where is the little boy?"  It brought tears to my eyes. 
My new goal is to make the Burkes filthy rich with the biotech, so that they can buy a beautiful home on the beach. Where Jillian can feel the extremes of the weather, the wind in her hair and rain on her cheek.  Where Lindsey can collect rocks and shells to her hearts content. A place where Kelsey rarely gets bored.  The Burkes are the strongest people I have ever met, they are my inspiration.

Thursday, June 14, 2012

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.

Wednesday, June 6, 2012

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.