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Wednesday, June 25, 2014

Parent Power

Parent Power.I like that tag line- much better then fighter mom. (Stole it from 60minutes Australia.)

It’s overwhelming when you  sit at home working at your kitchen table, no office filled with employees, no other Sanfilippo parents in your neighborhood working along side of you. The task of pulling all your resources together: scanning, sending, signing, fundraising, networking, lobbying, reading reading reading, and writing writing writing- making choices that will affect generations to come and WAITING.  It’s all so formidable.  Then your “new” best friend in Portugal instant messages: “can you skype?” Breathe, I’m not alone.

I just watched 60 minutes Australia...  A sister sanfilippo family, The Donnell’s- parents of Isla and Jude tell their story along side another young family in South Carolina.  Iv'e talked about these families before, I refer to the Donnell’s and O’Neill’s as the next generation of Sanfilippo families to drive the science. They refer to me as J WOW. Pretty funny as for most of the time I feel like J LOW.

Here is the 60 Minute episode, inspired by the Donnell’s.  http://lnkd.in/b6n9ieU

With the viral video, that the O’Neills created, I get congratulation messages all the time... I have to repeat over and over NO, the gene therapy treatment that the Donnell and O’Neill’s are talking about is NOT for type C.  It is for type A and B. The gene therapy for type C, is still in the pre-clinical stages, HANDS (JJB’s consortium of sister foundations) has funded $400,000 dollars so far for our gene therapy and we still have another 1.5 million to fund over the next couple of years before we can be “approved” for trial.  Don’t worry we’ll get there too.

It’s impossible to control what the media says, trying to describe to the audience, whom has never even heard of Sanfilippo, what Sanfilippo is, is just too hard.  I had a little chuckle to myself when listening to our most senior MPS scientists, Dr. Hopwood try to describe the disease. http://youtu.be/V8v-U1-SqR8 

Compare it to the radio interview that Kristine and I did last week. http://fresh1027.cbslocal.com/2014/06/15/spotlighting-sanfilippo-syndrome-with-cbs-2s-kristine-johnson/  Pretty funny.

Last Tuesday, Jonny Lee Miller and Kristine Johnson hosted our coming out reception in NYC. It was held at the HEATH inside the McKittrick Hotel, home of “Sleep no More.” Our first Annual Rare Occurrence Reception was freaking AWESOME. Pulling it together in six weeks was not an easy task, but we did a pretty damn good job- with the help of the team at First Protocol, The HEATH staff, Mari and our new friends at the Arte Institute... Some said I couldn’t be done in 6 weeks. (you know who you are.)  I planned my wedding in less time.

The point of the reception was to introduce our cause and raise awareness about Sanfilippo. We did just that with this lovely video shot (by Jeremy) edited by CBS.
http://youtu.be/V8v-U1-SqR8

I set up a photo exhibit with the now famous pictures that Dodi Holm of Rustic Pear Photography shot of Jonah over the course of the last three years. When I saw the venue for the first time it reminded me of a saloon you would find in Southern Oregon. Open rafters, stuffed wolves, delicate floral vintage wallpaper, not pretentious but edgy.  Reminded me of home, it reminded me of the pictures Dodi took of Jonah, out in the woods, running through fields, wadding through rivers.  Which in turn reminded me of this poem: “If I Had my Child to Raise Over Again” by Diana Loomans

If I had my child to raise all over again,
I’d build self-esteem first, and the house later.

I’d finger paint more, and point the finger less.

I would do less correcting and more connecting.

I’d take my eyes off my watch, and watch with my eyes.

I would care to know less and know to care more.

I’d take more hikes and fly more kites.

I’d stop playing serious, and seriously play.

I would run through more fields and gaze at more stars,

I’d do more hugging and less tugging.

I’d see the oak tree in the acorn more often,

I would be firm less often, and affirm much more.

I’d model less about the love of power,
And more about the power of love.

I paired each line of the poem with a picture of Jonah. I dedicated the photo display and poem to the families that received very late diagnosis, not knowing that their child was dying, assuming they were just a part of the Autism spectrum or just born with brain damage.

The line and corresponding picture that stays with me is:  “I would care to know less and know to care more.”  Jonah looking into the empty nest. When my nest is empty will it be because Jonah got his "cure" or because we didn’t make it in time and he died?  I'd care to know less and know to care more.


Jonny and Kristine thanked the room that was filled with several of JJB’s supporters that had been by our side since ground zero, a handful of our clinicians and scientists.  The rest of our guests were new to the cause.   They set the stage for the nights events.

As usual I didn’t write down what I was going to say until the morning of the event. I was super nervous when the room began to fill up and Maureen grabbed me and said: “show time.” Kristine and Jonny spoke first about how they came to know of the cause and what it meant to them.  Jonny floored me with his kind words, he said: “It’s not everyday that you meet a person that changes the course of your life.”   All my insecurities melted away, Jonny has a remarkable way of calming me down, it’s as if he’s my coach and for whatever reason I believe what he says.

I got up on stage then locked eyes with our geneticist that changed the course of our lives forever.  Dr. Karen David, had the awful job of telling Jeremy and I that Jonah had Mucopolysaccharidosis.  I was so happy to see her, my speech just came together. I ignored everyone else in the room and spoke just to Dr. David, the person that gave us the worst news a parent could hear, but turned it around by saying that: “there was hope, treatments unimaginable five years ago are a reality today.”  Iv’e said this many times in interviews, well basically to anyone who asks how we got here.  But this was the first time I got to say it face to face to Dr. David, in a crowded room of spectators.  It was a personal moment that needed to be shared out loud. 

Then we partied, everyone had a great time.  I didn’t have a moment to myself, everyone came up and talked to me, they were so moved, they asked questions about the disease, congratulated us on how far we’d come and thanked us for educating them.   I was really very touched by the compassion and sincerity. One of our sponsors of the event is putting his money where his mouth is and is hosting a fundraiser for us this September.  He’s donating $20,000 to be matched at the event!

The coolest attraction at the event was a live painting by artist Joana Rico.  Joana explains her work:    The live painting will be from a series that explores the first immortal human cell line, HeLa. This cell line comes from an African-American woman named Henrietta Lacks who passed away in 1950 from a cancer. Her story didn't end like expected, because a biopsy of her tumor was discovered to be immortal. Her cells continued (and continue) to replicate instead of dying after a few weeks. The impact of this cell line in modern medicine is hard to measure as it transformed our ability to investigate basic biology and develop modern therapies. HeLa cells have been responsible for the development of the vaccines for polio and HPV, in vitro fertilization, cellular imaging techniques and now, they are being used to find a cure for the Sanfilippo syndrome. The story of Henrietta, the individual behind a revolution in medicine, also helps us remember that advances in medicine come not only from scientists and doctors but also from the patients and their families - like Jonah.
I explore microscopic imagery of these cells through painting. The lines formed by the cells’ skeletons tell of their decisions and intentions. Focusing on these lines allows me to consider their identity - not of each individual cell or of Henrietta, but of any living whole - a varied but persisting form, that continuously searches on the edge of non-existence.


In a tweet Joana wrote: “Henrietta Lacks gifted us 60 years of insight... What will Jonah gift us?”  Frankly... I’d care to know less and know to care more.  You can follow Joana She's posting a slide show of the event.

Here is a link to a few pictures from the event. http://bitly.com/


The next day Jeremy and I attended Jonah’s “Stepping up Ceremony”  I bawled like a baby, it was the cutest performance I had ever seen.  We were delighted with Jonah, he kept up with his peers, I couldn’t have been prouder. We beamed and grinned from ear to ear, pushing away the dark clouds that hang over our heads.

Now you’d think that Jonny would take a little break and relax for the rest of his hiatus.  But no, not one to sit still, when there is work to be done.  Jonny has made up is own ultra-marathon and recruited a couple of buddies to run 50 miles through the streets of NYC.  He’s doing it July 5th and is hoping for sponsorship (I am too.)  https://www.crowdrise.com/jonnyleemiller50miler

Check it out.   There’s still more to come.  I didn’t even scratch the surface with this blog.

Wednesday, May 14, 2014

I take it back!

I take it back.  The other shoe has not dropped, it’s back on and Velcro tight.  We had Jonah’s adenoids taken out in March and it has made all the difference in the world!  For the first time in a year Jonah can actually breathe out his nose. He has had a sinus infection every month for the last 7 months, but not now.  He’s all better.  The operation has made a major difference in his personality.  We’re in a state of shock and I hope I don’t jinx it, by bringing it up.

It’s been a pretty amazing month.  Dr. Cao’s run raised over $11,000! Our friend Pyare is doing his first half marathon on Sunday and he is only short $300.00 for his $3,000 goal!  https://www.crowdrise.com/bkhalfforjjb/fundraiser/jonahsjustbegunfound

Jeremy’s cousin hosted her first fundraiser for JJB too! Our sister organization Levi’s Live Love Laughter has been extremely busy pulling together a golfing fundraiser, in honor of MPS awareness day, there are dozens of golfing events going on all around the world, our goal is to raise a million dollars in 1 day. https://www.facebook.com/events/678415762168439/  Sunday is going to be a huge day and I wish Pyare and my sister organizations all the luck in their endeavors!

Tomorrow is MPS awareness day.  It’s a day for everyone to wear purple and share their story of how MPS affects them or someone they know and or love.  Jonah’s school has sent home a note with the kids and emailed all the parents asking them to send their children to school in purple.  I can’t wait to see the turn out.

All this help during this time is extra special.  This week marks the 4th year anniversary of Jonah’s diagnosis.  Four years....  For the first time in four years, I’m feeling like we’re in a really good place. It’s truly all coming together. It’s a massive amount work, but now we have a dependable and generous team supporting us.  Furthermore I had the best Mother’s day ever, we took Jonah to the lego store at Rockefeller center, I stocked up!  Then we had a really nice dinner, just the three of us.  Jonah was on his best behavior.  For our wedding anniversary, Jeremy and I actually got a sitter and went out for a lovely meal. I’m feeling a bit spoiled.

This weekend Jeremy, Jonah and I will be doing our part in planning our next fundraiser.  We’re heading to MA to visit Ben’s Dream and the JLK-Sanfilippo Research Foundation.    We’re making a short clip on our three families.  After a few nights in MA, enjoying time with our close friends, we’re heading to Montreal!  As luck would have it our primary investigator for gene therapy, Brian Bigger from the UK will be visiting Alexey’s lab.  We get to film Alexey and Brian together in Alexey’s lab!  How fun will that be?! I don’t know about you but I’m super excited to see Alexey's lab in person, while Jonah get’s to meet his entire lab. It’s going to be a really special reunion, I just hope we can capture the emotion on film.

This month hasn’t gone by without some tears.  There is a new MPSIIIC diagnosis also in MA.  The boy is 13!  It’s a classic story that we hear way to often, the boys family knew in his preschool years that something was off, after two rounds of genetic testing coming up with nothing.  The family was just told: “I’m sorry, for some unknown reason your son has brain damage.”  The parents adapted to their new normal, they luckily have a good school system and are receiving a lot of services for him.  Lately, their son has grown more and more aggressive: “like an ADHD child on steroids.” Making it extremely hard on the family to control him.  The mom started searching for answers again and they came back with MPSIIIC. 

We’re going to meet the family along with a third type C family while in MA. It will be difficult seeing all the kids in various different stages, one of the families has two sick children the mom was pregnant when her older child was dx’d, she’s now 17mo and the youngest known MPSIIIC child in the world. I’m really looking forward to holding her and looking into her eyes.  I want to tell her that we’re going to save her...  Is that ok?  Or should we wait and see. I’m so tired of waiting.  For the Sideman’s the waiting for a treatment for Ben is over. Our interview- with Nancy and her three girls, me and young Jonah and no Ben... There’s no doubt in my mind that we will paint a compelling story. I HATE having to tell it.

Speaking of a compelling story, here’s the clip from mine and Jonny’s trip to DC, where we spoke on a panel, preaching to our legislators for the need of federal dollars and incentives to spur the treatments for rare diseases..... I start talking at around 40min. I suggest you watch the whole conference, the panelists tell a really good story and they set the stage for my speech. I can’t even begin to describe to you how nervous I was, I was wound so tight I thought I’d explode.  Jonny was cool as a cucumber, I couldn’t have asked for a better coach. Having him next to me, supporting and encouraging me... I don’t know that I could have gotten through it without his advice.
http://www.youtube.com/watch?v=NXRG-qmBY1k&feature=share&list=UUL155EYAyLhYiPe-a1PbXTw&index=6

For my Throw Back Thursday clip watch this... It gives perspective how far we have come. Four years ago, it feels like a life time.  I plan on being in trial in the next four years... come hell or high water we will get there.
http://www.youtube.com/watch?v=kdFWS21EH5c&feature=share&list=UU2DPEYfkEZUUpEJuCHwP1fQ&index=4

Don’t forget to wear your purple tomorrow.  Tweet us pictures @JJB4CURE #MPSIII  Help us raise awareness. Who knows you might just help diagnose another child.

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.
https://www.youtube.com/watch?v=jjW8grqwT-c
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.
http://superpoderescontrasanfilippo.com/
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. https://www.youtube.com/watch?v=G0IY8qG7J-I

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: http://www.active.com/brooklyn-ny/running/races/17th-annual-cinco-de-mayo-5k-run-2014

Or sponsor a runner at: http://www.crowdrise.com/SSPforJJB

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.
https://www.youtube.com/watch?v=fa-mnfPcEKI#t=234
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.
http://newyork.cbslocal.com/2014/02/26/elementary-star-jonny-lee-miller-works-to-solve-sanfilippo-syndrome/
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. http://www.wusa9.com/story/news/local/2014/02/27/interview-jonny-lee-miller/5884685/
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.
http://myemail.constantcontact.com/Helping-Has-Never-Been-Easier.html?soid=1105984887407&aid=WDHF5RTMXiE
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. http://vimeo.com/25189597

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.
http://clinicaltrials.gov/ct2/show/NCT02037880

Information about the NHS.
http://bensdream.org/10-08-13_NCH_MPSIII-Webinar.pdf

The Sanfilippo Patient Registry (all subtypes)
https://connect.patientcrossroads.org/?org=SanfilippoRegistry


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.

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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.
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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. http://abcn.ws/1hdlinQ



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....


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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