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Wednesday, April 9, 2014

exposure vs exposed

Exposure... exposed.

Our families are letting the press into our homes our lives, we’re exposing our beautiful children, we do this in hopes of convincing the world that we need treatments. As parents we struggle with the exposure.  Do we really want the world to know that our children are different?  What if someone shows our child the interviews of his/her parents crying on t.v.?  What if another child asks our children whats wrong with them? What kind of impact will it have on our healthy children? 

We have thought long and hard about these questions. I realize that if we’re going to have a chance in saving our children’s lives, we have to let people know whats going on.

For me admitting to strangers, that my son is dying and I need your help, is excruciating. I get by, by telling myself that running a foundation and a start-up is just my job.  It’s a good job, I’m helping to save lives.

Recently our community has enlisted the help of actors and athletes to help convey our message.  I have yet to share the videos of Jonny Lee Miller’s plea to congressional legislators and their staffers to support our rare disease initiatives.  Until now.

When Jonny looked over the list of panel speakers for the rare disease caucus briefing.
He asked me: "What do you think my role is amongst the scientists, parent advocates, pharma, FDA and NIH employees?"

I told him:  "Your role is to get our legislators to show up and listen."

Jonny did just that, his presence packed the room. Jonny’s speech echoed exactly what our families and industry have been saying.  His words come from a dad, not an actor, but from a dad of a healthy child, whom has the depth and compassion to place himself in our shoes.

Here’s Jonny’s speech.
Watch it and think about what would you do if you were in our shoes.

I talk a lot about JJB’s sister organizations: Sanfilippo Sud (France), Sanfilippo Barcelona (Spain) and the JLK-Sanfilippo Research Foundation (MA).  Sanfilippo Barcelona has a special relationship with Xavi Hernandez and Andrea Iniesta, these men are world famous football players of FC Barcelona. 

Xavi recently joined forces with the financial institution La Cacia, La Cacia has created an ad campaign featuring Xavi Hernandez, Belen her son Pol, Raquel her daughter Joana and Janette with her son Inaki.  JJB sponsored our primary investigator, Dr. Brian Bigger to talk to the science in the ad campaign. :)  For me the ad is personal, watching Brian interact with Joana is priceless.  It’s actually rare for a scientists to meet a child that their life work is based on.

The ad is beautiful, our families are compelling, dynamic and raw.  The ad will run nationally in Spain, it’s part of a platform designed by La Cacia.   In every bank branch customers will have the opportunity to make “micro-donations.”  Here’s the ad. FYI, once Xavi’s commercial runs the clip ends for a moment, then the infomercial starts.
I hope all of you will root for Spain for the world cup!

Eliza’s parents found the expertise to help them make an awareness campaign go viral.     It’s an unnerving guilt I have watching this family make a huge impact in the rare disease community, on one hand you can’t stand the idea of another family living this horrific journey.  On the other you can’t help but to feel a bit of relief in having another family join in on the fight.

Awareness can be as impactful as funding.  We need to find the other children and educate clinicians on the signs of Sanfilippo.  An early diagnosis gives a preemptive strike against the deterioration of skills.  This is why our families put our lives out there, we’re compelled to not only save our children but to help diagnose and then treat the next generation.

MPS awareness day is May 15th.  Jonah’s school has agreed to send a letter home with all their students, asking them to wear purple in honor of MPS awareness day and to join us at the park on May, 4th.  This all started with Dr. Cao and an early diagnosis,  I hope all of NY will join South Slope Pediatrics walk/run and support Dr. Cao’s mission to help us fund a cure and raise awareness.

Register at:

Or sponsor a runner at:

Tuesday, April 1, 2014

Frantic February leads into March Madness

April showers bring May flowers.  I’m hoping that saying holds true.  Who’s been paying attention!?  Did you notice that February was completely frantic for us?!  Seriously... I nearly lost what is left of my mind. March has not been much better, complete Madness!  I’m letting it all go in April. Just let it rain, I’m going to stay in, maybe it’s time to get a t.v. and just veg. Wouldn’t that be lovely!

My last post was for Ben.  You know his parents have not stopped working towards a cure. I want you to all watch this RAC meeting.
Many of you might be board to tears with all the science conversation, for those of you skip to the end and watch the parent testimony and you'll be moved to tears. 

February was frantic, horrific and progressive. This winter we laid to rest more children then I have the strength to count.  At the same time the seeds that our families planted years ago have started to bud.  In another year we will have flowers, after that they will bare fruit.

February’s frenzy started with our trip to OR.  I dropped Jonah off with his Aunt and Grandma, then flew to SD for the WORLD conference of lysosomal storage disease. The conference is hosted by the LDN (Lysosomal Disease Network)  The LDN is the outfit that JJB has partnered with to help us with our NHS, they will help us in trade, giving us access to their experience and people. The LDN is a network of institutions that have a focus on one or more of the LSD’s. The University of Minnesota is one of those institutions, the folks at Minnesota conducted the NHS for type A and B, this was sponsored by the large drug company Shire.  Shire has taken a bad wrap lately for not opening up their data from the NHS of A and B to other MPSIII academics focused on treating Sanfilippo.  Yet, Shire has given JJB their protocol from their NHS.  Shire understands that having C and D’s NHS done in the exact same way as theirs, will give our community a good comparison across the 4 subtypes. Anyhow ‘we’ JJB’s NHS PI and the LDN had an intense meeting about our partnership.  Which put some fear in me, this is a really big deal.  Now if it would just start already!  Waiting on committee hearings, at this rate by the time we start we’ll have a treatment.
Landed in OR. 

All of our consortium's scientists attended WORLD, we had plenty of opportunity to sit down and update each other on where we’re at and what’s the next plan of action.  Sean and I presented our posters and made even more great contacts. The conference was very productive, one meeting/session after another.
World 2014: Dr. Fu, Dr. McCarty, The O'neill's, Jill and Dr. Pshezhetsky
I met another newly dx’d MPSIIIA family at the conference.  It was unnerving to watch them, they reminded me of when Jeremy and I got the news and showed up at the same conference three years ago.  I knew what they were going through and it broke my heart.  Glen asked me if I had a timeline in which I thought we had to get Jonah something?  I told him I stopped thinking about that timeline.  It’s taken me almost four years to get to this place but I think I’m finally here.   I have not accepted Jonah's fate, Ive just had time to absorb it.

Jeremy and I have been watching and waiting for Jonah to start changing, it’s started, the other shoe has dropped.  And you know what?!  Jonah is still Jonah, the world has not come to an end. Our sun still rises and sets with him.  Jonah is remarkable.

Monster truck show!
Once back in OR, Jonah and I enjoyed a bit of down time with family, he got to see his cousins, whom he worships, we took in a monster truck show, and attended my grandma Alice’s services. Friends and family also hosted two fundraisers for JJB during our trip back home.... 
When I said I enjoyed some down time I lied, there was no down time.
Jonah and his cousins, throwing sticks in the storm drain.
I can’t thank my Mom, Ila, Allison and Steve enough for pulling together fun and successful fundraisers on such short notice.  We had a really lovely time hanging out with old friends and making new ones, the proceeds were much appreciated too!

Bunco Party with several of my sorority sisters. :)
Once we arrived back in NY, after an uneventful red-eye, Jonah and I literally took a nap and got up for an interview.

Kristine Johnson, our NYC CBS news anchor, stopped by for a quick chat about our upcoming trip to DC with Jonny.  Kristine did a wonderful job putting together the piece for us.  I understand how hard it is to convey the science and the need for funding in a short amount of time, but Kristine pulled it all together brilliantly. 

Jeremy walked in at the same time as Kristine.  He hardly ever get’s home before midnight and here he was just in time for the interview. It was really cool, Jonah hadn't seen his Dad in two weeks.  Needless to say Jonah was a little animated for the interview.
Jonah and CBS anchor Kristine Johnson, NYC

I think it was 2 days after the interview that I left for DC I just transferred some stuff from our big suitcase and threw it in a duffel bag. I ran and picked up my suit from the cleaners and wrote my speech for the rare disease caucus.  Packed Jonah’s school lunch and wrote a note for his sitter.  The next morning Jonny and I caught a 7:00 am train and we were off to the Capital! 

F.Y.I. Jonny Lee Miller joined myself and associates on a panel to speak to our countries legislators.  We gave speeches on the importance of supporting legislation that would help spur the development of treatments for rare diseases.  Jonny did an exceptionally awesome job!!!  Half the room came to listen to Jonny, It’s not everyday that a celebrity comes to Capital Hill. Wait until you see video of our speeches.

I’m going to save the blow by blow Capital Hill experience for next weeks blog.   But here’s the interview from the DC's local CBS news cast.
RDLA Caucus Briefing 2/27/14

In the mean time, check out the extra special fundraising event that Dr. Cao (Jonah’s pediatrician) is hosting for JJB. It’s extra special because Dr. Cao is the reason we received such an early diagnosis. Find out more here and pass along.
Jonah and Dr. Cao

Sunday, February 9, 2014

Don't let Big Ben down.

Benjamin Alexander Siedman was born March 19, 1996 and died peacefully surrounded by family on February 7, 2014.

The day after Jeremy and I received Jonah’s diagnosis, we hit the internet looking... looking for what I don’t know, everything we saw and read was so hopeless, I couldn’t stomach it. Then Jeremy stumbled across an old interview of the Siedman family. In it the Siedman’s were educating the viewers on the disease.  Their two other children played with Ben in the background. Their oldest Noah, spoke about Ben- he was just a young boy but wise beyond his years. Noah spoke about the fundraising effort he was doing to help find his brother a cure. He was genuine and the love for his brother filled the screen. I thought if this young boy could rise to the occasion then so could we.
Then Jennifer and Stuart spoke about the foundation and the research, their narrative was the first glimmer of hope that I had.

In the interview we found out what Ben’s Dream was- to be a farmer.

When you’re told that your child has a fatal disease and they won’t make it to adulthood- one of the first things that goes through your mind are of the same thoughts you have when they’re born.  What will he be when he grows up? You imagine all kinds of different scenarios for your child. Then you get the diagnosis and those thoughts play back in your head, thinking that they may not happen now is unbearable.  Jeremy and I immediately stopped imagining what Jonah would be like when he grows up. After watching the interview I locked myself in the bathroom, away from Jonah’s site and had a long hard cry.  I came out and said to Jeremy that we should follow the Siedman’s lead and create a foundation, Jonah’s Jut Begun was born.

I couldn’t find the exact interview that inspired JJB.  But this one is just as inspiring, it’s a compilation of interviews.  If you know Jonah personally you will find the similarities in Ben and Jonah uncanny watch on and you’ll see the progression of the disease; then you’ll find it unnerving.

I don’t think that Jonah’s going to die anymore, I even allow myself to think about his future. I have Jennifer and Stuart to thank for that, their work for a cure started 10 years ago along with fellow pioneers the Linton’s (Life for Elisa) and the Wilson’s (Cure Kirby) Whom I also have to thank.

I had the pleasure of meeting BIG BEN in 2011 at a fundraiser that the Burke family was hosting (JLK).  When they walked in It was if I was seeing a movie star.  Ben still had a few words then and you could tell he was checking out the chicks at the bowling alley. I'm pretty sure he had his eye on Kelsey Burke.

Friday night Jonah and I took a redeye out to OR.  Before I left I got a message from Jennifer, she mentioned that today was the day the first MPSIIIB child was being seen for the type B Natural History Study (NHS).  She found it ironic that the study was starting on the day that Ben was fighting for his life.  Jennifer asked that I continue to help raise awareness about the NHS.  We are having a hard time finding patients for it.  This is because, the drug company Shire has been conducting their own type B NHS.  There aren’t enough known candidates to participate in two different NHS’s. 

The NHS study goes hand in hand with the first ever gene therapy clinical trial for type A and B in the US, which is slated to start enrolling later this year.  The research that the Siedman’s have been funding for almost a decade is finally coming to fruition. Ben, the muse behind the NHS must have known that it started. For us Ben will never die his spirit will live forever in a cure.

On Monday I head to San Diego for the annual WORLD conference.  It will be a very emotional trip, Ben is a legend amongst the Sanfilippo community.  Some of his personal clinicians will be there along with all the scientists that BD has funded. JJB and BD submitted a poster that was accepted for presentation.  The poster describes JJB’s collaboration with BD- it’s meant to raise awareness for our patient driven NHS and Sanfilippo registry.  It discuss’s the importance of sharing data and working together for a treatment. There are just a handful of Sanfilippo kids represented on the poster all of them type C with the exception of Ben’s picture.  My work at the conference will be done in Ben’s memory, I’m empowered by Ben and I won’t let him down.  On a side note the poster was already presented by Raquel (JJB’s V.P.) at a rare disease conference in Portugal; it was accepted on the day Ben died to be presented in Berlin.

I’m in the process of writing a grant, also in collaboration with BD (the National MPS society and Cure Kirby.) I was concerned that I wouldn’t make the deadline, now I’m driven to see it through.  With that thought, I’m sure Ben would rather see me spending my time working on the grant.  So off I go.

I hope the entire Sanfilippo community including patients, scientists and clinicians that are reading this blog will honor Ben by joining the Sanfilippo patient registry.  Or by spreading the word of it’s existence to all of their friends and colleagues.

NHS for A and B.

Information about the NHS.

The Sanfilippo Patient Registry (all subtypes)

Ben Siedman

Jonah Weishaar

Friday, January 17, 2014

Sacrifice and Forgiveness

This isn’t the blog that I had intended to write this month. But life happens when it wants to happen. 

I usually try to keep the blog focused on Jonah and JJB progress. The blog that I’m writing today is still relevant in that Sanfilippo, like family is part of mine and Jonah’s genes.

Being a mom to Jonah is a huge part of my life and it’s my experience with my parents and grandparents that influenced who I am as a parent.

 I’m reflecting today about days long gone by.  My paternal grandmother passed away yesterday. grandma Wood was a layered and seasoned women. She had 8 children and adopted a 9th. They lived on a beautiful plot of land in OR- wrapped around their 16 acres of farm land was the towns river.  A haven for a growing child. We had some chickens and cows, but the river and the barn were the main attractions.

Some of my fondest and scariest memories are from that farm.  My grandma was old school, she was a grandma. She made her bread from scratch. We loved to help her pound out the dough and then watch it rise. She made us egg salad sandwiches from the bread, cutting off the crusts.  She carefully wrapped the sandwiches in parchment paper, with the corners tucked in, like they do at authentic deli’s.  She’d stick them in a picnic basket along with home made blackberry cobbler or rhubarb pie. Then take ‘us’ (my siblings and a cousin or two) down to the river for the afternoon.  She taught us about periwinkles, skippers, beavers, schools of fish and the crawdads. It was absolutely majestic for a kid- nothing could be more perfect. Catching frogs and crawdads, swinging from the tire swing and learning how to swim. Filling up on delicious gourmet sandwiches, fresh vegetables and pie.

My grandma was a good teacher, she taught us how to milk the cows and make butter. She let us collect the eggs from the hens.  Have you ever put your hand under a snoozing hen to fetch her eggs? How soft, warm and delicate her body feels, her bones and feathers touching the top of your hand, compared to the scratchy straw on the palm of your hand, reaching and searching; then finding the egg, not always smooth, sometimes splattered with chicken poop. gross.

These are cherished childhood memories that you don’t often think about, but you remember when you’re reminded of something and it comes back. These experiences shape you. My grandma gave them to me.  I wish I had some old pictures to show you. I could talk forever about my young years on the farm.

When my grandparents retired my Dad purchased the farm and took over the family business (my parents divorced by then.)  My grandparents bought the neighboring plot and put in a little house close to the river.  They spent their summers traveling in their Winnebago.

My brother stayed on the farm with my dad. Almost teenagers now, we got ourselves in to some pretty harry-scary situations on the farm, the kind of fearless trouble only an adventurous teen can get themselves into.... My dad fell on hard times, manic depressive, self medicating on liquor, women, cards and drugs. Those were the really scary times. Dad burned down the house that he grew up in, that was his first suicide attempt.  A few years later he shot himself sitting at the picnic table in my grandparents backyard.  While my grandparents were away on a camping trip.

I had just graduated from college and had my first job, living in Seattle near my newly married brother.  My sister Jennifer still back at home was the closest to my Dad, he helped her build her daycare and refinish her house.  They did a lot together; she was left with the burden of watching him self destruct. Around that time my Grandma came to Jennifer and asked her a favor.  It was not well received by Jennifer and she ignored the ask.  Not much later my dad committed suicide.  Flash forward.

Yesterday I checked my email and saw that my Aunt Melissa had sent a mass update to all her siblings and the grandchildren about my grandmas failing condition, it would not be much longer. Grandma had Parkinson's and recently had broken her hip. My Aunt sent a second email to me asking me to forward the message to Jennifer.  Instead I sent her a text, being it only 6am in OR and I knew she wouldn’t read her email. My Dad’s birthday passed the day before and my gut told me that today was the day.

I told Jennifer in the text that she should go see grandma quick before she died. Jennifer got to the living facility at 3:00. She sat down on the other side of Grandma, Aunt Melissa holding one hand and my sister holding the other.  Grandma acknowledged that Jennifer was by her side and my poor sister unloaded the guilt that she had held onto for 14 years and apologized.  She finally said her peace and my grandma let go.

Not too many people get the chance to say they’re sorry and I’m so thankful that Jennifer got too and grandma listened.

After a suicide family and friends are left with so much anger and guilt they feel abandoned they think of their friend or family as selfish for leaving them.  When he started to get really bad I was bitter and angry, I resented him for being an alcoholic and for not getting his shit together.  I didn’t realize  that he had a mental illness, nobody told us. By the time he shot himself, his mental instability was finally acknowledged to ‘us’ his kids.

Saying goodbye... the river. For those that don’t get to say their peace. I hope they get “the visit” so they can. Soon after my dad died, he came to me in a dream, it was tangible like I was awake and alive, dad was dead and this dream was really happening.

We met at the river, it was late afternoon. We waded through the water, stepping over the slippery rocks hand in hand, not talking. I could feel the water lapping at my shins the sun on my face and the breeze in my hair. We came upon a man laying down under the water, he was in loggers clothing (among other things my dad was a logger) he had jet black hair pooled around his face and a dark beard, his face was white the life washed out of him, his eyes were closed, but he was smiling.

I was so sad for the mans family, even though I didn’t know them. My Dad said to me, look at him- he was drowning in pain but not he’s happy he’s finally at peace, his family will understand.

The sun was setting, my dad kissed me goodbye, he left me standing at the rivers edge as he walked off into the sunset. I woke up  relieved and I forgave him for what he’d done and I knew with my whole being that he was finally at peace.

Last week I picked Jonah up from his after school program is was raining out, we had our rain coats and boots on.  It was dusk and Jonah was jumping in every mud puddle.  Complaining was futile. We came to the big intersection an on and off ramp to the highway. It was dark now and it smelled good, the Christmas trees lined the streets you could smell them, some Christmas lights were still up and were reflecting in the water.  The cars zoomed by, people rushed home. Jonah and I just stood there, we stood there and watched.  Jonah watched the rain, the cars the light, taking in the sounds, the reflections and the water. I watched him and I peacefully waited for him to get his feel and to soak it all in.

On the way home I thought about how the rain made me feel when I was little, I loved it. I couldn’t help but cry for all the little but delicious tactile experiences that Jonah might not have the chance to relish in. Today reminiscing about my grandma, it really hit home all the experiences that I hope Jonah will have. 

A good parent makes sacrifices. So far I have learned two life lessons: sacrifice and forgiveness. I’m working on patients.

At the end of December my sister in laws Mom died. When Barb arrived, she sat down and took her mom’s hand and said hello and started talking. Moments later Barb realized that she wasn’t breathing anymore.

Death comes in three’s.

Jennifer now takes care of my Mom’s dad.  I’m hard pressed to think of one thing he taught me. Unlike my Grandma Wood, my Grandpa Barrett is fighting death with his waking death, he’s entirely dependent on my sister for everything. He’s depressed and his grasp on reality is touch and go.  He says horrible nasty things, worse then you could ever imagine. There is no quality of life left in him, he’s miserable, but his stubborn nature will not allow him to succumb. He’s afraid. Jennifer is a saint for putting up with and cleaning up his shit.  She’d say well no body else was going to do it. Grandpa Barrett was also the family member that passed down our mutated gene, not that it’s his  fault (that I know of anyway) it’s just fitting that it would have been him.

I never liked my grandpa, we never bonded.  He yelled at us all the time, I don’t think he likes me, he never said one nice thing to me.

A snap shot of my grandpa Barrett... There was a beautiful huge black cherry tree in his backyard, with a perfect branch to be boosted up to.  This particular glorious Spring day, the cherries were perfect, fat and juicy, dripping from the branches. Jennifer and I hoisted ourselves up into the tree, just as we grabbed a handful of cherries and started gorging on them, my grandpa came charging around the corner waving his cane, bellowing at us: “Get down from that tree! Those cherries aren’t ready yet!”

The next afternoon, we were sitting in the living room looking out the window longing to be sitting in that tree.  Wishing that my grandpa wasn’t home.  Then A black cloud fiercely flew in and overtook the tree- crows. They cherry picked that tree in one afternoon.

I’ll save the rest of his story for when he dies.

Right now, I have some living to do. Tomorrow is Jeremy’s 40th Birthday and I need to order his cake.  I actually made reservations for dinner and got a sitter. Last year Lucy Liu gave him a gift certificate to Manducatis, an Italian restaurant, never been but the ratings are great and the website looks amazing. Seriously we haven’t been on a date in years. I bet Lucy is going to ask him again today if we used the gift card she gave him. So embarrassing.

Sunday, December 8, 2013

It's coming...

Sanfilippo is knocking on our door.
Santa is coming.
National Believe Day aka Make A wish.
Sequestration hasn’t stopped.
Sanfilippo is taking Megan.

Sanfilippo is coming...

A couple weeks ago was parent teacher conferences.  As I was standing outside the classroom door, I looked over the bulletin board of stories that Jonah’s class wrote.  I couldn’t help but notice that Jonah’s story line was almost non-existent, like the story had to be coaxed out of him, the pictures to support the story “Jonah goes to the Park with Mom and Dad.” Were not advanced he was still drawing like he was three.  I started looking over the other kids books, my stomach dropped, all the other kids had long detailed story book names and their pages were filled with color and depictions of what they did. The difference in skill level could not be ignored.

It was the first thing I said to his teachers, which echoed their thoughts, his teachers pulled out a picture that Jonah drew of a policeman, he could have done better when he was three. I wanted to cry, here comes Sanfilippo.  They went on to say what wonderful other skills he had. His letters, sounds, and number recognition was much higher then required at this age.

Phew... I thank early intervention and full-time pre-school for that. I asked about his one-on-one if she was really needed or not?  The teachers eyes got big and it was a unanimous YES!  I was reluctant to have a paraprofessional with Jonah, I thought it would be over kill or give him a stigma. The teachers said, Jonah wouldn’t be able to get through the day’s routine without his para.  That hurt.  Jonah did so well in pre-k.

I ran home and called Jeremy desperate, we have to do something now, he agreed that I could hire a tutor. The following Monday Jonah’s tutor started, I hired one of his pre-k teachers, she comes twice a week for an hour.  Just enough time to get through his homework and maintain and build on the skills that he does have. His tutor has a master in special education and she understands Jonah and the disease, and has been a huge supporter. I’m so happy she could do it, there’s no way I could get Jonah to do what she can.  She definitely learned a skill in college.

Now we have to tackle the behavioral.  Jonah has been super stubborn and giving his teachers a really hard time. “no” “no” ‘no” I don’t want to, I’m too sick.

Ok so some of that might come from the stubborn gene he inherited from his mother. We see his psychiatrist next week, we will discuss behavioral intervention.  It’s not that Jonah’s being bad, he’s just acts out when he feels like he can’t do something, it’s too hard. I’m hoping we can build Jonah’s self confidence so that he’ll try without putting up a fight.  We’ll keep trying new techniques to help support Jonah’s skills and behavioral issues.  I’m sure we’ll be in the poor house in doing so, but seriously who cares.

We do have some good news.  I think I mentioned before that Jonah had had a couple of bad blood results come back with elevated liver enzymes, which means his liver functions are elevated because of inflammation on his liver. I put Jonah back on the genistein regiment and three months later we had his blood-work redone and everything came back normal!  WooHhhhHHhhoooo!
Making Thanksgiving dinner, wearing nothing but his apron made by Grandma.

Speaking of which the genistein trial in the UK is about to begin, so we will finally know once and for all if it really works or if it’s just in our heads. Coincidentally the primary investigator (scientist) Dr. Brian Bigger who is conducting the genistein trial came to NYC on Wednesday.  Brian was in town for a quick advisory meeting, here for just 24hours. We had a window of four hours to chat.  I asked if I could try and get the Rare Disease Report to come meet up with us to do a follow up to the genistein trial to coincide with the press release.  Brian agreed and I was able to catch the reporters in time to come and meet us.  Ugh... when Brian landed he was sick he had had the flu for 3 weeks and thought he was over it, but the flight just about killed his sinus’s and he had no sleep for 24hours.  Brian tried to back out of the interview. I told him: “hell no”, I got these guys here... Jonah has backed up sinus’s everyday of his life and you don’t hear him complaining.  I was pretty ruthless.  Brian did a good job you can’t even tell he’s sick. It’s a good thing he did the video will be very meaningful to the Sanfilippo community.

Santa is coming....

Jonah is super psyched about Christmas, we got our tree up and every morning Jonah runs out to check if Santa came early. Sadly the one thing that he really wants for Christmas I can’t or refuse to buy.  You know the pixar movie Cars I and II?  Well Disney releases the toys in just one or two lots then it’s over, no replenishment, so unless you work at ToysRus, you don’t know when to go and buy them.  They are selling on eBay/Amazon for $60.00 seriously!!!  They are literally just like hot-wheels but they change color when you take them from cold to hot water.  You know... I’m going to have to break down and order one, so that I don’t ruin Christmas.  It’s A $5.00 car at retail and I’ll pay $60.00 bucks for on eBay!  Seriously next time I happen to be so lucky enough to be at Walmart when the Pixar Plane movie color changers are released, I’m buying the entire case and selling them on JJB’s eBay store.

Here’s a link to our JJB eBay store.

Side note...

While I was thinking about it, I just had to check Amazon and there was Carl Cartrip in his prime and glory for just $19.99!  So I bought it, Carl was flanked between a $74.00 McQueen and $162.00 Sheriff!!!!!!!  You have got to be kidding me!  Take it from one idiot collector, who’s mothers closets are stuffed with my childhood toys- A Madame Alexander doll purchased 30 years ago will still only raise it’s retail value on eBay. I did however sell my entire Strawberry Shortcake collection at a garage sale and raised enough to buy my mom a new computer.... So that’s something.

Here is a link to our Amazon store.

National Believe Day-Make A Wish... 

A few weeks ago I posted this story about an awesome make a wish gift.

Now this is the best ever Make-A-Wish America wish that I have ever seen! When Jonah was first DX'd with MPSIIIC, #MakeAWish called me. They said that Jonah was eligible for a wish. I was kind of taken aback that they called me, first Jonah was only 2 at the time and he couldn't talk, he wouldn't be able to verbalize a wish. Secondly I was deeply saddened that my son was on their wish list. Still newly dx'd I hated the idea that my precious little boy was on such a list. I told the nice lady that we were too busy fighting for Jonah's life to take a vacation and hung up.

Then I got to thinking about it... If I could somehow turn Jonah's wish into a major publicity event for JJB, to raise awareness for Sanfilippo then I'd be all for it.

I called the lady back and pitched her my idea. I wanted to invite all of Jonah's immediate family to NYC and have reserved seating for the Thanksgiving day parade.

Then Jonah would have his own (JJB) float decked out in the MPS/JJB theme, Jonah and friends would throw out purple heart candies with information about the disease. The announcers would be sure to point out that this was a Make A Wish sponsored float on behalf of Jonah who suffered from the fatal disease #MPSIIIC . BUT his family was fighting his fate- with a foundation that was raising funds for medical research.

The women politely shot me down. She said no way could MAW pull something off like that. Plus Jonah would have to be the one to ask to be in the Thanksgiving day parade. (I know he'd go for it now if his cousins got to come on a float with him.)

So that's my #MAW story. I'm glad that this little boy got his awesome wish and was able to raise much needed awareness for leukemia, btw as fate would have it there is a 5year old in Jonah's class that is fighting leukemia too. I must pass this story along to his mom.

Side note...

My Cousin Molly, now 40 was at the ground floor of the new technology to treat leukemia.  Think back 35 years ago, the treatment for leukemia was archaic, Molly just recently had some MAJOR side affects from the chemo she received over 30 years ago.  She’s recovered now and is doing brilliantly. 

I can only imagine what I’ll be saying about Jonah when he’s 40.... “yeah and the treatment for Sanfilippo back then was horrific,  we had to drill 6 burro holes into his head and then inject an innocuous virus like AIDS into his brain and hope for the best.

Back to Make A Wish....

Yesterday on twitter I noticed a bunch of tweets about Macy’s ‘Believe Day.’  The premise is that your child writes his note to Santa and you bring it to Macy’s and for a dollar Macy’s will deliver the note to Santa, all proceeds going to Make A Wish (MAW).

Now this is where I need a heavy handed editor to PC my thoughts.

So Macy’s donates a dollar to MAW to every letter received.  While the children stand in an hour line waiting to sit on Santa’s lap to ask for their wish and  possibly purchase a $5.00 photo of the moment. Meanwhile their parents go shop and spend on avg. let’s say $200 bucks ( I’m just guessing at that stat.)

Damn this is the kind of racquet that I want in on.  I’m sooooo jealous. I plan on taking Jonah to see Santa at Macy’s, because he wants to see Santa and I want the most authentic Santa.  I’ll call ahead and make sure someone escorts us to the front of the line, like I mentioned (Sanfilippo) is on the MAW foundation list. Ugh I’ll have to buy their photo because we’re not allowed to take pictures. 

My point...

Talking to Brian on Wednesday, I voiced my concerns for the 100th time about how we would be able to take our gene therapy to market for our ultra-rare disease.  Again we agreed the best way to fund phase I/II of the trial would be through JJB, because the foundations status would give us financial savings that Phoenix Nest or any other biotech would not.  Then fingers crossed someone would partner with us for phase III and commercialization.  Without even flinching I told Brian that JJB would finance phase I/II.

You know when you walk by a beautiful three million dollar home and you wish you could have it? You tell yourself maybe ten years from now I’ll have saved enough to put down a down payment.  

Wishful thinking is not an option here. In three years time JJB needs three million earmarked for a phase I/II trial.  So when I see that Macy’s plans on raising a million dollars in one day to go to the make a wish foundation I want to puke in my mouth.

When will someone ask what a family of a dying child really needs?  A cure!  I could get 3 treatments ready for trial with a million dollars for academic research.

I don't deny that many of our Sanfilippo children have thoroughly enjoyed their MAW and that is is a good program.  I'm just saying I wish more people would get their hands dirty and address the root of the problem.

The Burke Girls at their MAW.

Don’t even get me started on Sequestration...

For us It means that the biotech dollars/fee’s that they pay to the FDA to keep the FDA’s programs going are put on hold.  These aren’t even tax payer dollars, pharma is picking up where the tax payer dollars don’t stretch. SInce sequestration the FDA has not been able to access 85 million dollars!  Now were going into 2014 and sequestration hasn’t been settled, and the dollars that pharma pretty much donates to the FDA are being waylaid because our congressional members cannot work together. I just can’t get over it.

Between JJB and Phoenix nest we just submitted three federally funded applications for grants. It will be a miracle if just one of these grants are approved. Thank you Sean, Patti, Alexey and Paul for all your hard work in putting the grants together!

My wish is that a billionaire will be awakened to the fact that people like ‘us’ need a foundation that raises millions for ultra-rare disease research. 

Sanfilippo is taking Megan....

So with a heavy heart I leave you with this. I couldn’t start out the blog about Megan, because I’d never be able to get through it.

Megan is 27 she has Sanfilippo type C.  Her body has decided not to process feeds anymore.  Megan is literally starving to death, they are trying to make her comfortable with pain meds, some days they work, yesterday they didn’t and Megan cried all day.  Today her mother is asking for God to take her from her pain.

On Friday I called my scientists to talk to him about Megan, as if he’s my psychiatrist, I just wanted to hear his voice.  I needed to hear about all of our projects and how they’re coming along.  I needed to remind him that the clock is ticking. He defiantly understands our urgency. I just have to remind him not to think too much, just do it. Alexey reminds me of my husband, he never wants to make a mistake so he ponders his options forever. Sometimes you just have to go with your gut feeling (men are not equipped with the gut feeling) JLK-Foundation and JJB just funded the salary of a new post-doc to help speed up the process. Alexey is searching for that candidate now.  I hope the perfect candidate drops in his lap tomorrow and can start on Tuesday.
How I like to think of Megan....


Thanks again....

to my scientists that busted their butts to get in three grants and to Mari who makes me feel like I can be in two places at once.  Check out what she’s done on our Etsy store.  My Mom who slaves to do whatever she can to help raise a few bucks for JJB and to Janice who generously donated her beautiful pieces to JJB.
Link to our Etsy store

And of course to Jonny and Erik for raising us big $$ through crowdrise. :)

And to all of those that have received their Holiday Remit envelopes and immediately sent them back witch checks. My goal is $20,000 grand, last year we raised $16,000, we’re at $5,000 right now. 

Hey if you pre-order a JJB T by JJB will receive $1,000.  We have to have 50 pre-orders  in by December 14th  for the order to go through. We need another 28 orders!  Order yours now.
The Link

Tuesday, October 22, 2013

What's next... I'm afraid to ask!

Kicking up my feet for a few days... 
Laying low with Jonah, poor baby has a nasty cold. This month has taken a major tole on all of us.  We’ve been running ourselves ragged, traveling, promoting and planning. 

Jonah is in a huge new school now, lots to get used to and lots of germs to fight off.  I told my pediatrician that we’re going to be living in his office this winter, fortunately his office is just a few blocks from home.  You gotta appreciate the little things in life!

Our entire Sanfilippo community is heartbroken...

over the deaths of four Sanfilippo children whom all passed within a six week period of time. Another reason I haven’t written in awhile... I don’t like to admit out loud that these children died and they all have Sanfilippo like Jonah. Brendan, Ben, Chloe and Nikita were all so young 11-14 years old.  Sanfilippo is so rare that these kids and their families become our extended family, having never met in person we know so much about each other, through our chat groups, it feels like we’ve known each other forever.  These night’s each parent is thinking the same thing: “Winter hasn’t even hit yet, who’s next?”  “Could it possibly be my child?”

It’s a real life horror movie, who is Sanfilippo going to murder next?  None of our kids are safe...

On that note, I’m going to stop and make Jonah dinner and try and move past this entry. - Take 5 everyone- 

Let’s try for some cheer.... I know I could use some!

Let’s see, well there is Jonny and his Flash Gordon like awesomeness, running a second ultra-marathon so that he could reach his goal of a $160,000.00 for our Natural History Study. Jonny ran another 50 freaking miles on September 19th!  He exceeded his goal by 5%.  I tell you this man is something special, he is not a quitter,  when he says he’s going to do something he does it. For real! I’m not star struck, I’m not that kind of person.  FYI Jonny doesn’t hold a candle to my husband!  Okay I’ll give Jonny points for the accent/voice...

On the 3rd Jonny is going to run the ING NYC Marathon, he’s going to run this one for for his fans, a thank you for making our goal!  For those of you in the NYC area please cheer on our super hero Jonny!  You'll be hearing more about JLM's plans to support JJB in the new year.  We can't thank Jonny and his fans and JJB's supporters for all of your generosity and support!

More on the Natural History Study (NHS) front...

JJB and our Primary Investigator (Dr. Paul Levy) have been invited to be part of the LDN’s (Lysosomal Disease Network) RDCRC a.k.a the Rare Diseases Clinical Research Consortia a grant also known as the U54 that the NIH offers every 5 years, a few new grants are accepted and many previous grants are renewed.  The LDN’s grant is a renewal.  

The LDN hosts the US conference that I always go to in February called WORLD (yet it only takes place in the US hmm.)  This is my favorite conference, everyone who’s anyone in my little world goes to this conference.  The LDN is a large consortium of institutions and academics committed to the advancement of treatments for Lysosomal Storage Diseases.                                                                
I know I already lost you, so I’ll just cut to the funny part’s.  I really really wanted our NHS to be on the list of the LDN’s, RDCRC renewal.  I made a few HARRASSING phone calls and emails, then realized I was way too late and I should let it go, before I annoyed anyone too much. The LDN’s cut off for proposals was last February. lol But seriously I saw their list of projects and they really needed my project to round out their proposal.

The evening that I resigned to let it go, I was skyping with JJB’s V.P. Raquel from Portugal.  The land line rang and Jonah answered it, Raquel and I got a good laugh out of Jonah talking to the ‘solicitor’ on the line, Jonah hung up.  It was after business hours and I never answer the land line. (FYI I don’t take unsolicited phone calls, you must schedule a call)  Anyhow, the phone rang again a few seconds later, I checked the caller ID. Whooopsies... I answered. It was Dr. Chet Whitley the director of the LDN consortium... good thing he see’s Sanfilippo children on a weekly basis and got a big kick out of talking to Jonah.

Dr. Whitley asked what was up, he had been told by numerous people that he had to call me.  I gave him my 15 min elevator pitch, we talked it through.  He reminded me that this was beyond last minute and if I wanted this to work I would have to give him my blood, sweat, and tears.  (uhhm do you want them freeze dried and fedexed or in person?) This was a Wednesday and his grant workshop started Friday evening. I would need to send him my primary investigator for  the LDN’s Saturday grant writing workshop and find a half dozen other clinicians that would want to enthusiastically be part of a now multi-center NHS.  GO

I didn’t waste any time contacting my short list of candidates.  The next evening our NHS P.I. Dr. Levy called my land line, I ANSWERED for him.  Dr. Levy must have been expecting me to yell at him he said: “Jill is this you?  You sound so subdued?!”    It was now 24 hours since Dr. Whitley gave us his ok to submit our NHS protocol to the LDN’s RDCRC renewal. Dr. Levy knew I was DESPERATE to hear from him.

Good thing for Dr. Levy, he gave me the right answer, he had cleared his work schedule (understand this is an in demand pediatric geneticist.)  Paul was online ready to book his flight to Minnesota . Alas he was on board.  I failed to mention that I snuck Sanfilippo type D’s NHS in on this project too.  Somebody had to do it, Ive since been forgiven for dropping that work load on Paul's lap without asking.

Flash forward the renewal application is due in a week.  Even with drastic NIH budget cuts, I’m confident that the LDN’s project will be renewed, JJB’s cut of the grant will be minimal.  But in this case the funding is not the point, the name recognition is where it’s at.  Being a part of the LDN will say to the FDA and big pharma that our NHS is as close to perfect as possible.

The Rare Voice Award...

I was nominated for the Rare Disease Legislative Advocates “Rare Voice Award”  There were 4 categories for the award nominees: The congressional Leadership, Government agency, Congressional Staff, and Patient Advocate.  My category was for the patient advocate.  All categories were based on congressional staff and patient advocates that gave a voice to rare diseases on Capital Hill.  The judges made their decision based on the nominees scores on: leadership, risk-taking, cooperation, and overall success and effectiveness.  This description is what moved me the most, I’m honored to have won this award based off of these qualities.   You never know if people notice what you’re doing or if what you’re doing is even noteworthy.

Accepting the award was one of the proudest moments of my life.  I can’t thank the RDLA and EveryLife Staff enough for giving patient advocates like me the tools and opportunity to make a difference in the politics behind rare diseases and allocation of federal dollars to help us. They are the true heroes here. The other winners of the “Abbey” award are some of my biggest heroes, it was surreal to be honored along side the likes of Janet Woodcock, John Crowley and Pat Furlong. A little note about Pat, her 2 son’s both passed from a horrific diseases called Duchenne Muscular Distrophy.  Pat gave an interview to the New Yorker about her boys and her mission and work with her foundation the Parent Project Muscular Dystrophy.

The article was published in 2010 six months after Jonah’s dx. We had already formed our foundation and started locating the scientists and fundraising. Several of my friends and family read the article and took the time to drop it in the mail to me.  All the notes along with the article, said “she reminds me of you.”  Pat’s article gave me legitimacy, if this mom could move mountains, then maybe Jill can too. 

Whats next....
I’m going to Texas on Thursday to join the National MPS societies family conference. I’m not bringing Jonah though. I have yet to go to one of the MPS family conference’s there was one held right after Jonah’s dx, Jeremy and I weren’t ready to meet the other children yet, the other 2 conferences landed on Jonah’s  So here I am ready to go and meet some lovely families and their children for the first time.  It’s super hard to meet a room full of the future version of Jonah, kind of sucks the wind out of you.  I’m seasoned enough to attend now.

The week after the conference I’ll be attending Partnering 4 Cures, which is held in NYC, this will be my third year going, last year Sean and I presented our business model.  This year I’m anxious to network with board directors of philanthropic foundations and visit with many advocates and meet many new advocates.  JJB is helping the EveryLife Foundation host a meet and greet for advocates interested in networking with each other. If anyone reading this is a rare disease advocate and wants to join us, email The mixer will be held on Monday 6-8pm at the Public House.

Isn't this the coolest print?
 I love it check out Jonah's banner in the middle of his chest. This is going to make a really cool T-shirt!
You can get a t-shirt with the JJB "strongman" or a print of the original piece of art check our Erik's crowdrise page.

Foundation goals...
I can confidently say that we have accomplished and laid all the groundwork humanly possible to pave the way for a treatment. Last on my list was to get a patient registry up and running and hammer out the details for our NHS, now that's done too. We have several excellent research programs in the works. We’re pinching every penny and keeping up with our research payments.  This is one of the toughest jobs out there, we live from pay check to pay check and we never know if we will be able to keep up with the growing amount of research.  The further we delve into the science the more science and hypothesis for other therapies comes from it.  I guess that's a good problem to have. Him laying out a hint for you, be on the look out for your Holiday Remit envelope and our 4th annual news letter.  Nothing says the Holidays are coming like stuffing envelopes.

He’s the coolest kid ever, learning and growing everyday. I feel really good about the place he’s in. Yes there are some health issues and some behavioral quirks, but nothing that is freaking us out.  Jonah keeps telling me he doesn’t want to go to Halloween, it’s too scary. Months ago he told me he wanted to be a red dragon, I found the coolest costume, which he deemed too scary.  We did get him to wear it at Sebastion's Birthday Party, so hopefully there is hope that he will let Halloween come and wear his costume.

Rest in peace... Ben, Chloe, Brendan and Nikita.  These children were loved by their parents with every fiber of their being.

Thursday, September 5, 2013

I'm going to be published!

A blog within a blog. 
JJB's CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with yours truly and my patient advocate friends Lori Sames and Alison Moore. He named his blog: "Rare disease heroes – Extraordinary collaborators we should be listening too." Sean helped my friends and I write a paper called: "Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery." 
 YES, I'm going to be published!  It will be in Drug Discovery Today, soon.  The link to the reprint is below.
 Once I accepted my new job in life and saw that I could actually be the driving force behind a treatment for Jonah and his friends.  I wanted to share my experience with others and inspire them to take action to help bring about treatments for rare diseases.  I know many people still think I'm crazy, that a treatment for Sanfilippo is just wishful thinking on my part.  Well... that kind of thinking is more of a reflection on them then it is me. And I'll show you!
 Sean's blog....
Sometimes you meet people that truly inspire you to do more, question what you have been doing and rethink your goals in life. But when you meet three of them in a short space of time you realize that something transformative is happening. In the space of two years three non-scientists have overtaken all my previous scientific role models. Having undergone a pretty classical scientific education (undergraduate, PhD, post graduate, worked in R&D etc.) I was perhaps, like many, under the illusion that we can make a difference alone.  I had never met the actual patient or the family member that needed science to find them a cure and do it fast. Then I met Jill Wood, Lori Sames and Allison Moore all with several things in common. Firstly they or their family are affected by a different rare disease. Second they are proactive trying to find a treatment. Third they are entirely dependent on collaborations to make progress. They are aiming high, in fact, so high that their approach could herald a new wave in pharmaceutical research.  
Each of them separately formed a rare disease foundation (Jonah’s Just Begun, Hannah’s Hope Fund and Hereditary Neuropathy Foundation), raised money for research, networked with scientists around the globe and funded the ideas they wanted to pursue in search of therapeutic treatments. Many other parents or patients have taken similar steps to find a treatment or cure for a rare disease. What sets these three apart is that none of them are scientists, they have self-trained themselves through good old hard work, finding the right experts, and are pursuing their goal by merging leadership, entrepreneurship and the single-minded scientific vision of a principal investigator. Now there is much to learn from this, they have no fancy technique or special formula, they just surround themselves with the people who can make their ideas happen, they listen and then do whatever is necessary to help the scientists succeed. Their infectious drive was such that I wanted to help and having volunteered with their foundations and start-up companies I realized earlier this year it was time to tell their stories so far.
As with other recent examples, having the idea for a paper and getting it published are two entirely different things. We started out thinking it would be a short paper for the rare disease focused journal called Orphanet, yet we were rejected. It is unfortunate in some ways because Orphanet is an open access journal and the paper would have been more accessible and giving parent / patient advocates a voice would have balanced their usual content. A far more detailed manuscript was ultimately accepted in Drug Discovery Today and a preprint of the article is available.
Imagine the scenario that if every one of the approximately 7000 rare diseases had a Jill, Lori or Allison?  Far more could be done to further our understanding of each disease and certainly they would encourage more collaboration that could help as each tries to develop a treatment. While in the manuscript we note that biotech and pharmas are looking to rare diseases as a potential commercial opportunity, still there is the challenge for some of the “ultra-rare” diseases for which there are very few patients.  When one looks closely at the achievements of Lori, Jill and Allison and their collaborators, there are similarities with how some venture capital companies are incubating new rare disease companies.  The VCs of course have the benefit of tens of millions of dollars to try an idea, which is not available to Allison, Lori or Jill, and they have to raise the money their scientists need themselves. Perhaps in spite of the small numbers of patients, the approach they each have pioneered is certainly scaleable. If enough scientists can be encouraged to engage with such rare disease champions and work on rare diseases either part-time or full-time, then we will have more treatment options available. Other parents or patients with rare diseases may be encouraged to follow their lead. 
After the manuscript was accepted,  I had been offered the opportunity to officially consult for all three groups. And so begins a new phase. My goals are to assist them in their science, communication of the projects they are working on and efforts to partner and fund their work. I look forward to documenting progress as it happens and learning from Jill, Allison and Lori as they pursue treatments for Sanfilippo syndrome, Charcot-Marie-Tooth Disease and Giant Axonal Neuropathy, respectively.

Sean and I at last years Partnering for Cures summit.