Where were you in the 4th grade? #CUREmps #MHH #skippingSCHOOL

4th grade.

We skipped school yesterday.

After Jeremy went off to work, Jonah climbed into our bed. An hour later Jonah woke up and asked: “Is it good morning yet?”

I looked out the window, it was raining wet snow. It looked cold and uninviting. Jonah said: “Mom I’m not going to school today right?”

Jonah asks both these things every morning and in this same order and same sentence structure. Most of us would say is it morning yet? Jonah thinks it’s said: is it good-morning yet? It’s something Jeremy and I let go of trying to correct.

I turned and looked at him, trying to make up my mind. Our room was so warm and cozy, outside was not. I impulsively jumped back into bed and pulled up the covers. “Nope today you’re absent.”

I knew exactly what he’d say: “Good, I can watch then?”
Lunging for the remote as if I had a say in the matter.

When I pick Jonah up from school he tells me exactly who was absent that day. He has done this everyday since Kindergarten. I’m always shocked by how many kids are absent. There are only 12 students in his class and according to Jonah at least one is missing almost everyday.  On the day that all the kids are at school Jonah proudly announces at pickup: “Mom Mom all the kids were in class today.”

We stayed under the covers for hours. He watched Paw Patrol and I read Politico. There are days when I just don’t want to leave Jonah’s side. We ate breakfast in bed and stayed there until around noon when I finally pulled the plug. I had started thinking about making Christmas cookies.

Jonah loves to work in the kitchen especially if it’s for cookie making. For the most part it’s overwhelming to have him in the kitchen: knives, popping grease, boiling water and hustling. When I’m mentally prepared for a cooking date with Jonah, the time spent it’s delightful. We made ice box cookie dough, his dad can do the other half with him. Jonah loves to eat the cookie dough and I feel obligated to let him do it.  My mom would give Jennifer and I each a beater to eat off of, we sat at the kitchen table and relished every morsel. Once we ate off the big chunks we’d proceed to lick every crevice of the aluminum blades until it was spit sparkling clean. I want Jonah to have those same type of sweet memories. 

We spent the afternoon looking at Pokemon cards, reading books and playing board games. Then it was time to get some homework done. I look at him and wonder what is going on in his brain? Is it really this hard for him or is he just pushing my buttons? I think back to math homework how hard it was for me. I was so frustrated with my brain, I just couldn’t find the solutions. Does Jonah feel like this? I don’t know because he can’t articulate how he’s feeling. Writing sentences and trying to spell the words is the hardest for him. He can read a sentence and say a sentence but he can’t write it on his own. I try to engage him and coax him to think of a sentence. I usually end up writing my sentence down on the dry erase board. Then I hold it up and read the sentence. I attempt to make the sentence as simple as I can, so he can find victory in writing a couple of words on his own. I put the board down so he can’t just copy it, forcing him to think about the word and then write the word. He tells me all the time: “I just can’t do it Mom, I can’t I can’t I can’t.”

I feel like I’m torturing him. I know how this felt. The difference is I was going to college someday and I needed to learn it. In Jonah’s case… Well you know, I don’t have to put it in words.  Something inside me is telling me to no’t let it go, to keep trying and not give up on him.

Last night and all this morning I thought about my personal 4th grade experience. I was reading chapter books non-stop, introduced to Judy Bloom and Beverly Cleary.  I checked out every single book the library had from these two authors. My teacher had a book reading star chart for the class, I always had the most stars in the class. I loved to read, now the only thing I get to read are medical research papers and legal documents. Ladies do you remember: Are you there God? It’s me, Margaret? One line sticks with me: We must we must we must increase our bust. The bigger the better the more the boys will depend on us.

Are you there God? It’s me, Margaret. Is a critically acclaimed book, sadly this is all I remember of the story. If this is every girls take away, then know wonder we haven’t had a women president and men like Trump are ‘running’ the show.

It was in the 4th grade that I started to loose some of that childhood innocence. Two new kids came to our school district and into my class. We didn’t get many new comers in our town. I’m going to tell a story about the new girl and new boy, I’ll change the girls name. I’m going to call her Nasty Nancy, which is very close to what I actually called her in my mind.

We didn’t use the word bully back then, but by all measure the new girl was most certainly a bully. It’s as though being a bully came naturally to her, I figure it was just her personality. I have know idea where she is today.  We’re not friends on FB and  thankfully she moved again before 7th grade.

At the very beginning of the school year she cunningly asked me for my locker number. Thinking nothing of it I give it to her. Only my stinky gym shoes were in there, I was only 9, who thinks like a criminal at 9? Nasty Nancy did.

From thence forth, on gym days, she cut up our hallway class walking line until she was first. Once there she sprinted to my locker and opened it. Snagging my gym shoes, putting them on and wearing them as if they were hers. At first I thought it was some kind of joke. The gym teacher made her give them back. What was it with the 80’s why were people so obsessed with Nikes? That is a joke. She liked them for my rainbow shoe laces.

I’d fight her off at the locker. She elbowed me, pushed me away hard and spit at me. I was now scared of her, this was not normal behavior. I got her in trouble, I was a school teachers daughter and pulled rank at school. Nasty Nancy was a minister’s daughter, the irony.  They assigned a junior high girl to watch over us in the locker room. Nast Nancy moved on.

Nancy was in my Blue Bird troop too, not only did I have to spend the day with her, but my weekends too. Insult to injury, but it did give me the opportunity to see some of her home life. Her parents appeared to be good people, her house was nice and clean. My 9 year old self wasn’t able to deduce what made her tick.

Marlo was the other new kid.  I’ll use his real name, he’s my friend and won’t mind. Marlo is black, besides his older brother he was the only black kid in our school. I could never hide his identity nor would I want to. Marlo wether he wanted to be so or not; was a game changer for the class of 91. Probably even for our whole town. lol

In class Marlo sat to the left of Nasty Nancy and I sat on the right. On this particular day, Nasty Nancy got up from her seat to talk to the teacher. Marlo turned and smiled at me, getting my attention. He walked to the pencil sharpener and got his pencil nice and sharp. I knew what he was going to do before he did it and I giggled. He walked back to his seat, as Nancy walked back to hers, Marlo leaned over and held the pencil under her butt. She sat down, the pencil disappeared. It was not the funny scenario that Marlo and I had envisioned. You know like the scene we saw in cartoons; a little ouch then springing up in the air. The pencil literally went up her butt. Our eyes bugged out in shock. Nancy started screaming and crying. This is a memory marked in my mind forever.

I often wonder what it’s like in Jonah’s 4th grade class. What if someone at school relentlessly bullied Jonah? Stealing his shoes and making him chase them around the locker room, no adult in sight. Jonah is nine but he’s as innocent as a four year old. He could easily be made fun or ridiculed or taken advantage of. Two things reassure me that he’s ok at school. Jonah is an excellent judge of character, he might not understand what the bully is saying but he does understand the intention and he will react accordingly. Secondly he has a 1 to 1 assistant.

There was another major event in my 4th grade class. One of my classmates drowned.

At the moment Jonah is obsessed with having one of the neighborhood boys come and play with him. I really like the kid and his family, but this boy is lightyears above Jonah. At these type of playdates Jeremy or I end up playing with Jonah’s guest, because Jonah just isn’t up to their speed. It’s hard on me to hear the social interaction, Jonah just doesn’t get it.  I’m not sad because Jonah isn’t like them. I’m sad because I know that Jonah will someday start to decline and the opportunity for these playdates will end. This is what I struggle with the most these days. How much of his life am I missing by working my ass off to save his life?

It has been a really hard year. People don’t know what their financial picture will look like at the end of the year or in the years to come. I didn’t foresee how hard it would be to fundraise in this current climate. We raised half of what we have raised in the previous years. I swallowed my pride and asked someone to donate a hefty sum, fortunately that person did. The check has bought us some time. 

This year Mari and I have been wrapped up in and focused on our awareness campaigns. This coming year JJB will have to think hard on our priorities. We spent a lot of our time and resources building the MPS patient registry. Which I don’t regret our time spent has paid off, our registry is over a 1,000 registrants strong now we have two drug companies using it to put out surveys. I’m committed to Mission Hide and Help and getting that program up off the ground. This year our Natural History Study will most likely rule my world. Realistically I only have time for one additional JJB project, leaving Mari to do everything else on her own. Phoenix Nest needs attention too. PN has three ongoing NIH grants in the works and we’re pursuing the next steps for clinical trial, which is no small feat. Something will have to change in order for us to continue at this pace.

I leave myself with this post that my Aunt Melissa wrote. The highlighted portion is what keeps me from quitting. To see the picture that Melissa is talking about go here. https://www.crowdrise.com/o/en/campaign/jonahs-just-begun1/melissawilkie

Let me tell you a little about the photo I choose for this fundraiser.  This is a spot on the South Yamhill River in Oregon where I grew up. This is the spot that makes me think of my family, and how much I love them.  It was here that Jill and I and several of my nieces floated on tubes this summer, and talked about the reality of what Jonah faces and the research that is being done to find a cure.

You see for many years we were able to live blissfully unaware of ultra-rare diseases.  Life moved along, kids grew up, and all was well.  I'll come back to this last sentence.

Jill went to college, traveled, and ended up in New York where she met, fell in love and married Jeremy.  As these two began their lives together and started a family, they had no idea that they both carried a mutated gene that would change their lives forever.

It was when an astute pediatrician informed Jill and Jeremy that Jonah had something that indicated he needed further testing that they began this journey, learning about Sanfillipo type C.  It is at this point where I want to think about a day sometime in the future.  A pediatrician should be able to tell this family that this is a treatable disease.  Kids like Jonah should be in the category of  "Life moved along, kids grew up, and all was well"

This is where I need your help.  Jill and Jeremy have worked tirelessly to bring together kids like Jonah, scientists, funds in order to understand this disease, and how to treat it.  Every step brings hope for kids in the future.  Kids in families who don't even know they are going to need this cure.
Today in this season of family, love, and giving, I'm asking my friends and family, people that I love, and who love me to contribute to saving someones life.  Someone I don't know and someone they don't know, yet.  

Thank you in advance for your generosity.
Jill's Aunt Melissa

Santa noticed Jonah's hat and was inspired to show Jonah his Pokedex. https://missionhideandhelp.org/

Your DEADLINE is December 10th. #CUREmps #MHH

Your deadline is December 10th. Almost all of us need deadlines to stay on task and accomplish our goals. I know I do and then I need several reminders on top of a deadline.

You know who DOESN’T need a deadline? Jonah doesn’t need a deadline neither does: Maddie, Pol, Johanna, Elouane, Laura, Levi, Jillian, Lyndsey, Kelsey, Jules, Jared, Charlotte, Kevin, Zack, Bethany, Aimee, Bernardo, Vilho, Veera, Eyra, Hatiam, Khola, Abdullah. Yet all these children were given a prognosis at diagnosis, maybe they might live to their early 20’s but most likely they will succumb in their teens.

Anyone of these Sanfilippo children could die in their sleep tonight for no apparent reason. They could catch pneumonia tomorrow and pass by Christmas. I’m not being mellow dramatic, this is the honest truth.

Can you #Do Something? https://www.crowdrise.com/jonahs-just-begun1/fundraiser/jonahsjustbegunfound

My ask is that you join our team, follow the instructions on the link. I ask that you join the team, because this is much like a pyramid scheme, the larger our reach the more money we raise. However, you can always just donate, I will not hold that against you.

JJB’s online holiday fundraiser #DO Something is hosted by Crowdrise and sponsored by Newmans Own. There are numerous cash prizes given out each week and a grand prize of $500,000.00.

I’m suggesting a December 10th deadline because JJB will be pushing TWO of the weekly crowdrise contests starting on:
-December 12th-December 19th.
    The organization to raise the most funds this week will win $10,000
    Second place winner will win $5,000.00
-December 31st
    The Organization that raises the most funds on the 31st wins $10,000
    The Organization that gets the most donations from UNIQUE donors today wins $10,000

We will need you to be ready to push the campaign out to all your contacts on social media by the 12th.

Jonah and Laura, France

Khola

Jonah and Juels, France

Pol and Johanna, Barcelona

Jonah and Kelsey

Elouane, Jonah and Laura, France

Pol (Barcelona) and Elouane (France)

Jonah and Ryan Dant

Kevin

& MPSIII C kids all in one backyard, 30 known in U.S.

Jonah and Hatiam

Levi

A few weeks ago I attended a workshop in California geared towards biotech startup entrepreneurs, It was hosted by Ultragenyx and organized by Springboard. Springboard is a non-profit organization with sites around the world, they advise women entrepreneurs in every type of business sector. Ultragenyx is a biotech company founded by a scientist/physician, Emil Kakkis. As a young postdoc Dr. Kakkis’s research for the treatment of MPSI (JJB focuses on MPSIII) was supported by the family foundation Ryan’s Foundation for Rare Disease Research.

I'm assuming that you already have CNN open in your browser or the news is on in the background. Please put the Trump drama aside for ten minutes and Do Something else. Trump will still be our president tomorrow so you can catch up on the drama later.

I want you to read this story.
http://www.cnn.com/2017/05/12/health/ryan-dant-college-graduation-mps-rare-disease-profile/index.html

My point in having you read this is to remind you that we can create a treatment, we can save Jonah and his friends.

The workshop had experts in the biotech sector that coached the delegates on numerous topics. It was a really great experience and I learned a lot more on the hurdles that we will still need to get through to get a drug passed by the FDA and commercialized. Sadly I was also reminded by the VC’s that MPSIII C will be a major challenge is that we're ultra-rare. I will need to work ten times as hard then even a rare disease to convince an investor to partner with us. I ask myself how am I supposed to do this? I manage two companies and I only have one employee. I’m stretched as thin as I can be. I need more money and lots of it.


The conference delegates were half parents driving the science for their ultra-rare disease and the other half were scientists with a drug candidate that they needed funding for. I didn’t know until the first day of the conference that I was the inspiration for the workshop. One of the BOD of Springboard and employee of Ultragenyx saw me speak at an event. She was moved by my story and wanted to help in someway. She leveraged her connections to make the workshop happen. It’s people like her that make up for what I lack in donations. Pro-bono services from lawyers, grant writers, PR peeps and advisors that have gotten me this far. My lawyer at King and Spalding refused to even tell me how much she charges an hour. I can assume that my bill would have been over $100,000 by now. Sean’s pro-bono grant writing skills have raised Phoenix Nest over two million. What Sean does for our community is priceless. We need more people that have special skills to help parents like myself. I feel guilty that I’m hogging them all. But really should it even be me that has to do all this work? Everyday I want to quit and just hang out with Jonah and my family.

At the workshop it was mentioned by several of the professionals that it takes a certain personality to accomplish what we have. I get annoyed by that, mostly because I know it’s true and I don’t want it to be true. There was a dad in attendance that lost his child at five years old to a horrific syndrome, he has two healthy babies at home. But here he was, out there pitching and working on a treatment. I greatly admired his dedication.

A huge thanks to those that use their special talents and expertise to help people like me and that dad. A huge thanks to those that help by donating.

My patent lawyer is calling in a few. She’s in Denmark with a paying client, yet is taking 30min out of her day to help me. Speaking of which yesterday another pro-bono consultant took the time while on her vacation in Argentina to brainstorm with me on an idea I have, I want to revisit Sanfilippo endpoints for clinical trial. How can we change the status quo of FDA expectations and what measures can we use... Oh yeah then there's Sean who is on his way to Holland, yet yesterday he took the initiative to sign me up for a competition pitch talk.  If I’m chosen as the winner they’ll give Phoenix Nest $10,000, Sean wrote my business plan for me and registered me. Then emailed me to mention what he’d done and that I now needed to create a 2 minute video about my company. Did I even agree to this? Whatever, I just cheered myself up thinking about how awesome these people are. Just remembered one more thing… Mari and I had a conference call with a man who specializes in reaching specific markets for his clients. He spent an hour on the phone with us giving us tips and advice that I had no idea even existed on how to market our commercial: Mission Hide and Help.  Please watch, participate and share. 

This weekend one of my cousins stopped by for dinner, she's from out of town. Andrea asked me: "So what does your Monday look like?"  "I know you have these two companies and you're super busy, but what does your day look like?"
To answer your question Andrea.. This is what I did on Tuesday, I can't discuss what I did on Monday NDA required. lol

Family, our Aunt Melissa and Grandmother made that quilt.

Wow I feel so much better. Now if I can only inspire some of you folks to either create a team and promote it on your FB pages, Linkden, Twitter etc. or simply make a donation. Here is the link again. #Do Something

Every single time man.....#CUREmps

Every Single time you DONATE.  Gotcha....

 What did you think I was going to say?

Perhaps, something like... every single time I go to the post office I feel like I'm on candid camera and Beyonce is going to come out from behind the counter with her twins and say: "You've just been punk'd."

That would be funny, but no the postal people at my local office are always sadistic.

I actually don't have time to chit chat and catch you up on life.  I wish I did.  Today I need you to join our team aptly named #Do Something https://www.crowdrise.com/o/en/campaign/jonahs-just-begun1
You can join our team on one condition- you must participate. You might suck at it, that's ok, as long as you tried.

To get started here is a Facebook banner that you can download and upload to you FB profile.
Oh man.... So I took the TV away, I must go and confront the consequences. That is play with my child who is singing on top of his lungs and marching around me: "Uh hunting we will go."
Not kidding.

Mia had MPSIIIC, not autism #CUREmps

In an effort to raise awareness for Sanfilippo Syndrome, I have asked other parents to write their diagnosic odyssey.  Myself and the entire Sanfilippo community believes that there are many many more children out there that are living under the wrong diagnosis, many times Autism, the catch all for cognitive delay.  My obsession with getting these children diagnosed early is twofold. First off an early diagnosis helps families receive services faster and palliative care can be instrumental. Secondly, bug pharma is reluctant to develop treatments for Sanfilippo because our patient population is small and therefore not a money maker.  

JJB hopes that Mission: Hide and Help, will bring more patients forward. Thanks ahead of time for sharing! https://missionhideandhelp.org/

-Mia's story-

 
Mia didn't hit her mile-stones after birth, so we kind of knew there was a problem early on.  When she was born, she had respiratory depression and had to be taken to the Intensive Care Nursery for a week.  She just could not get the concept of suck, swallow, breathe down pat.  We were able to get her enrolled in Early Intervention Services and in Easter Seals for speech therapy and she made progress.  At University of Tennessee, she had lots of testing done and was diagnosed with severe mental retardation before age 3.  Her head circumference was in the 98th percentile, but my head circumference was in the 95th percentile, so it seemed an insignificant finding at the time. 

A year later, a neurologist friend of mine wondered why they never did an MRI of Mia's head, so she ordered that and found that Mia had Arnold Chiari Type I Malformation of the brain and a Mega Cisterna Magna. She suggested more testing, so at age 4, we took her to the University of Chicago for further testing. At that time her severe mental retardation diagnosis was reconfirmed and she had a dual diagnosis of PDD-NOS.  We were told that she would never be able to live on her own and given lots of platitudes.  We asked for a referral to a pediatric neurologist because Mia's Primary Care physician was ignoring my reports of seizures.  Only my immediate family witnessed Mia have them and they were confined to the left side of her body.  She was not particularly post ictal for a significant amount of time, so her health care providers gave no credence to our claims that Mia had developed a seizure disorder. 

A few short months after the testing at U of C, we took her to see Dr. Peter Huttenlocher at University of Chicago.  He walked in to the exam room with a medical student and 4 residents and took one look at Mia and told my husband and I that he was sure Mia had a disease called Sanfilippo Syndrome.  At that time, in 1997, there were only a couple labs that did the urine testing for the syndrome, so it took a few weeks to get that set up with instructions on how to ship to University of Illinois, Circle Campus in Chicago.  Months went by and no word.  The specimen was lost. so we started over.  A couple more months went by and we received confirmation that Mia indeed had Sanfilippo Syndrome, Type C. 

I will say that keeping the Autism (PDD-NOS) diagnosis was suggested by Dr. Huttenlocher.  He informed us that Mia would be eligible for many more services with a diagnosis of Autism, and he was correct.

R.I.P. Mia 5-21-93 to 3-24-13

 https://youtu.be/lwui53EyL6Y

Lace didn't have autism, it was MPSIII

Hello -- My daughter Lace, born in 2005, was diagnosed autistic in 2009, then re-diagnosed in 2015 as MPS IIIA. There was a lot of waste effort and money spent on the wrong things, and a lot of opportunity that might have strengthened her lost. As was the chance to advocate and support better research and cure development.

All the best,
Tim
CA

__________________________________________________________________________________


Jonah was diagnosed MPSIII C out of the blue at 2 years old, he was asymptomatic. The early diagnosis saved his hearing. Our doctors sent us to an ENT upon diagnosis and said he'd need ear tubes. Jonah was hearing at 50%, the fluid drained out. He could then hear, he was assigned a speech therapist and started early intervention preschool.  Upon diagnosis we were told that Sanfilippo caused hearing loss and most children never developed their speech because of cognitive issues.

Last week Jonah won an award for the poem:

Soccer Player

I scored a goal.
The ball went into the net.
I run after the ball.
My feet smash the grass.
Oh yeah!  

___________________________________________________________________________________

Early diagnosis is crucial!  Please participate in Mission: Hide and Help.  All of our Sanfilippo children should have the same opportunity to early intervention and palliative care. https://missionhideandhelp.org/

Please share with everyone, everywhere. 

Thanks,

Jill

Will didn't have Autism, it was Sanfilippo Syndrome #MHH #CUREmps

The below letter was written by Valerie, Will's devoted Mother.

When our son, Will, was born 7 years ago, I thought that everything about him was perfect.  His toes were perfect.  His nose was perfect.  Even the tiny little strands of earwax I’d find in his perfect ears were perfect.  Will, was our first child and our everything.  We had been blessed with an easy pregnancy, an uneventful delivery, and an outwardly appearing healthy child.  All was right with the world.  Will grew and developed normally and we took great joy in everyone one of his milestones.  When he was two, we decided we were ready to experience all the wonderment again and became pregnant with Will’s little sister.

While pregnant with our second, we started to notice a few differences about Will.  Nothing overly alarming.   His speech was a little behind some of his friends and we noticed that some of his fine motor skills were as well.  However, in some things he was very far ahead.  He knew all of his letters and their sounds, his numbers up to 30, his colors, and his shapes.  He was a summer birthday and therefore the youngest of his friends, so we hoped that it was just immaturity and that he would catch up in time. 

After his sister was born, more concerns came.  Will was 3 now and wouldn’t potty train.  He was going to have to leave his preschool program because of it and because of his increasing hyperactivity.  He was still loving and social and good-natured, but he couldn’t be still.  By the time his 4 year-well check arrived in summer 2014, Will had obvious, though minor, development delays in speech and motor skills.  We were sent for evaluation and assessment in August 2014, after which a specialist classified Will as high-functioning autistic with possibility of ADHD as well.  We were shocked; autism was the last thing on our minds.  However, this diagnosis gave Will access to help such as the early childhood education services through our public school district, occupational therapy, and speech therapy, so we accepted it and worked on getting our sweet boy caught up to his peers.  After getting through all of the paperwork and assessments, we were able to start Will in services in December 2014.

And he loved it!  He was doing well in school, enjoying his therapy, and showing lots of progress.  However, we still had concerns.  Something still didn’t seem right.  The autism diagnosis only covered some of his quirks, and others still remained unaddressed.  Our pediatrician wasn’t satisfied either, asking us in October 2014 to make an appointment with genetics.  We called and set up an appointment in April 2015 (the earliest they had openings) and didn’t think much of it.  Maybe he had an auto-immune disease like his Dad, maybe we’d find the autism gene.  Nothing else crossed our minds.
Until February 26, 2015. 

On that day, I had a rare moment of quiet as the kids were napping.  I was trying to catch up on news and was reading articles on the Today Show website.  One story caught my eye.  It was about Eliza O’Neill, a five-year old girl living with a rare disorder called Sanfilippo syndrome, also known as MPS III.  As I read about disorder’s symptoms included with the article, I started to sob.  I was reading about Will.  Large head.  Speech/developmental delays.  Hyperactivity.  Autistic behaviors.  Chronic loose stools.  Prominent eyebrows.  Large belly.  Umbilical hernia.  My sobs increased.  I researched more and the words ‘untreatable,’ ‘incurable,’ and ‘terminal’ sent me into deeper sobs.  I texted friends; they told me to get off the internet, stop diagnosing from website, I’ll drive myself crazy.  I wanted to be crazy, I wanted to be that crazy paranoid mom.  But I was scared.  Will had all of the early warning signs, except for poor sleep and chronic ear infections.  But those two missing symptoms weren’t enough to easy my mind.  I read that you could order a urine test to pre-screen for MPS.  I called my pediatrician at 4 PM and ordered the test, figuring I would turn it in, get the negative results, and laugh at my paranoia.  We gathered the sample and took it in the next morning.

I cried in the parking lot.

The afternoon of March 5 we received the call that his urine had tested positive for MPS and our life has been a whirlwind of despair and confusion since then.  The call confirming Sanfilippo Sydrome came a month later.  Will is still perfect in our eyes and he always will be.  But now we know that his genetics are imperfect and that our time with our son is limited.  His time with the ability to walk and talk is limited.  Our most precious commodity is now time.  

But we are lucky to have this time.  Will was thankfully only misdiagnosed for 6 months.  It was beyond lucky that I saw that Today Show segment, that I trusted my gut, and that my doctor was willing to follow my lead for the testing.  Many Sanfilippo children are not as lucky and can go years misdiagnosed, meaning that their families have no idea what is slowly happening.  They waste valuable time trying to find answers or chasing incorrect diagnoses.  They feel anger and frustration and lost.  That is unacceptable.  We MUST raise awareness of this disease, not only to push the research forward, but so that families get the answers that they deserve so that they can focus on what is important: the well-being of their child.  

_______________________________________________________________

Thank you Valerie for sharing this story to JJB's readers.  xx Jill

This will be the first of many guest bloggers to tell their diagnosis story. My goal is for everyone to see that there are most likely hundreds of Sanfilippo children living throughout the US and many many more throughout the World that are misdiagnosed or just not diagnosed at all. 

We need to find them and get them the help that they need. Will you help us spread the word?

Mission Hide and Help: Is a campaign that our very talented advertising friends and film crew created for us. Please check out the website and watch the video. We can only reach the masses if you help us spread the word and answer our call to action. https://missionhideandhelp.org/

JJB is hosting a launch party in Brooklyn at our neighborhood church. This is the most nervous and scared that I have ever been. I have given numerous speech's over the years to: politicians, doctors, scientists and pharma. Television and newspaper pieces are old hat for me. 

Jeremy and I have protected Jonah from the truth as much as we could. We have never overtly put Jonah on display like this. My fear is that people will treat him differently that they'll either be scared of him or mean to him. As of this moment Jonah doesn't know the truth, that he has a 'syndrome'. Jonah knows that he's not as smart as his friends. I see the pain in his eyes at the playground when his peers ditch him to play games that are too complex for Jonah to partake in. Jonah is 9 and he will always want to just play tag, hide & seek and soccer. 

I have 10 days to explain to Jonah about his body and brain and that it didn't develop quite like his friends bodies and mind. This is the hardest thing I have had to do, to date. I DO NOT want Jonah to ever know that he has a terminal illness, after I have gotten a treatment into him, then I'll tell him the truth. For now I have to give him a reason as to why he has a commercial with all his friends talking about how special he is, the Mission Hide and Help video will be played in front of him to all of his peers in attendance.  The kids in this video are Jonah's neighborhood friends. They actually don't know exactly whats wrong with Jonah and this group of kids don't care either, they love him just the way he is. I'm going to remember that and have faith that we're doing the right thing. Not just for Jonah, we have to do this for all the other children suffering from Sanfilippo. Friends and Neighbors in the Brooklyn area, you can find the details on our Mission Hide and Help FB page. https://www.facebook.com/MissionHideandHelp/ 
While there please like and share our FB page, we're also on Instagram. 

Official Mission Hide and Help Press Release. http://www.digitaljournal.com/pr/3491185

I encourage our supporters and other MPS families to host Mission Hide and Help parties. Show the video, teach the kids and their parents what to do, then swap Pokemon cards! Super easy and fun, more importantly your party could lead to a new diagnosis.

Thanks for listening and sharing.
Jill  

BEST WEEK EVER!

Best week ever.  Not to be greedy but I hope this coming week tops last week.

People say it comes in three’s. I got my three then some this week. The good things that came to me and my community were not a surprise, we have been working tirelessly towards these goals for years. It's just a bit more impactful when it all comes together at once!  Clears my plate a bit for all the other projects we have in the works.

JJB and our consortium HANDS have been funding our gene therapy program for 7 years now. About half way through I realized that funding the science wasn’t going to be enough. So with the urging of Sean Ekins I founded Phoenix Nest. Sean partnered with our scientists to write NIH grants we learned quick that the NIH was not keen to see funding sent outside the US. Around that time, a US based scientists Patricia Dickson offered her services for type D. She and Sean wrote a grant and we won, then we won a second and a third. You’d have to be in this space to really have a handle on how hard these grants are to win. The science has to be top notch and the competition is fierce. Now picture a mom with no medical background winning these grants.

The first grant we won, I was grilled hard by my grant manager, she couldn’t grasp the idea that a non-academic person would be sitting at her desk at home, managing NIH grants. I hired a bookkeeper and we made a budget and we follow the budget. I use a payroll company and they cut the checks and pay the scientist's tax’s. I mostly just reconcile invoices, our scientists buy crazy expensive equipment. Sean manages the scientists and keeps them on point. Easy enough right!  There is one grant that we put in and then resubmitted 6 more times. lol Sean does not give up. Every time the reviewers came back with suggestions he addressed it and adjusted the grant. This went on for years. I really really really wanted this grant. The other three grants are for subtypes B and D. Jonah has type C. I work for free, managing over two million in grants that won’t benefit Jonah.

Good news
#1, On Monday I got the notice of award, we finally won that damn grant. $225,000, the funding will go to chemistry for our chaperone molecule. Big sigh of relief here! I’m ecstatic. We have won 2.5 million in grants, which doesn't mean much to me, I just manage it. It is funding that will save lives, it pays for the research. I admit I bought a filing cabinet for all the invoices and paperwork.

Managing grants are easy compared to licensing the programs that JJB & HANDS funded through the non-profit donations that many of you contributed to and the research that was funded by the grants that Phoenix Nest wins… Now this is hard! I will refrain from lamenting about the crap I had to do to get here. I learned a lot and this experience will help me in the future. If I keep telling myself that, someday I might believe it. 

#2 We finally agreed to and signed off on the licensing terms for the gene therapy research that we have been funding for 7 years. Amen to that! Can I get a little applause over here? You might be asking what does this mean… Without divulging PN’s business plan, it means that we have the control now. I have the legal right to see this thing all the way through clinical trial and onto commercialization. Nobody can take that away from me and my families. Do you want to cry a little bit right now? I do! Dr. Cao is an incredibly humble man with a super cute dog and HUGE heart. https://youtu.be/RL24KsRyjPc 

#3 Our NHS (Natural History Study) has received it’s Notification of Approval by the NIH. This is another program that we have been focused on for 7 long years. Why did it take so long to get to this point? FUNDING, politics, red-tape, IRB approval, protocols, experts.  Funding is still a huge issue and I loose a bit of my brain when I think about how much this is going to cost. Again… I will refrain from thinking to hard on this. The acid is welling up in my throat.

The NHS is designed to follow the course of Sanfilippo Syndrome, there is not a longitudinal study done for MPS III C and D. We will bring in children across the US to Montefiore Childrens Hospital 1-2 times a year for 5 years. They will stay for two days and have numerous tests performed. 1 day will be dedicated to cognitive and Psych evaluations. The second day will be biological, sedated MRI, where we will scan every inch of the body, while under sedation: fluids will be taken, X-rays given, even dental exams. We need this study to further research and to better understand the disease.  Jonah will most likely be the first to enter the study. A huge part of me does not want to know the results of the testing.  I don’t want to know how much the disease has attacked Jonah’s brain. I can see that Jonah’s spine is curving, I assume that he has scoliosis.  His belly is bloated, is there something going on with his liver?  Deep breath… Knowledge is power knowledge is power.

JJBs partners HANDS (Sanfilippo Sud, Sanfilippo Barcelona, Sanfilippo Portugal, Sanfilippo Brasil, JLK, Levi’s Live Love and Laughter, Le Combat Hatiem-Contra-Sanfilippo) and our sister foundations: Sanfilippo Children's Foundation, Cure Sanfilippo Foundation and The Sanfilippo Children’s Research Foundation, whom have also contributed significantly to the HANDS research program’s.  These mom and pop foundations help keep our research afloat.  By NO means has JJB funded all this research on our own. These associations have carried us. It takes a village.

4-5-6-7....
Other cool stuff: Jonah started 4th grade, I really like his new teacher, Jonah is HAPPY, he’s still learning and he has not cognitively regressed (knock on wood).

Yesterday I received an uplifting text from Patti about our D program, I can’t share it with you, but just know that it was the cherry on my cake yesterday. :)

Alexey is in France for an LSD conference he decided that since he was super close to a mountain that he’s always wanted to climb that he’d climb it in our honor and ask his friends to support him. https://www.crowdrise.com/o/en/team/jilljonahsjustbegunorg/jonahsjustbegunfound

At long last the gene therapy paper that Brian and his post-doc Claire O’leary have been working on, will be published. I’m excited that everyone will see how hard we have been working.

Sean and I were the topic of a recent article in Nature’s Lab Animal journal ( a mention is this journal is coveted by academics.)  Sadly you have to be a subscriber to read the Entire article and I promised not to socially repost the entire article. http://www.labanimal.com/laban/journal/v46/n9/pdf/laban.1335.pdf 

On Tuesday the 19th, JJB will be issuing a press release about an awareness campaign, designed to help us reach the masses to the signs of Sanfilippo. I have two main goals: earlier diagnosis and correctly diagnosing the Sanfilippo children that have been living under the wrong diagnosis.  Jeremy’s college roommate, Steve whom now works in advertising came up with “Mission Hide and Help”. Steve had the help of his work partner and convinced his talented colleagues to pitch in. I absolutely can not wait to share the campaign with you. We will need your involvement to make MHH a HUGE success.  Wait for the Announcement, you only have to wait a few days.

Now it’s time for JJB to start earning our keep!  Announcing “Monster Mash”, a kid and adult friendly fundraiser October 28th from 2-5:00pm, Brooklyn. 
Get your tickets ASAP!

Monster Mash tickets on Sale NOW!

If you can’t make the event, there is still time to help JJB fill our raffle baskets. Purchase JJB something on our Amazon Smile wish list. https://smile.amazon.com/registry/wishlist/3MR2XEXXAI90/ref=cm_sw_r_cp_ep_ws_CvXizbYWC03H6

Did you ever imagine that we’d get this far? I tell people our story and they just sit and stare. I think they think that I’m lying or over exaggerating. I can’t blame them, If I were in your shoes I’d have a very hard time believing my story. How do I prove that I’m not full of it? Brian’s paper will help the world see. People can google me and read articles about our work.

I mention this because I still need a massive amount of help from funding to volunteers. If it wasn’t for my pro-bono lawyers, PR friends, celebs and the academics: Sean, Patti, Brian, Alexey, Elsa, Joel, Geoffrey on and on I would have NEVER made it this far.  Next stop clinic trial. This is what we have all been working so hard for. You can help, every dollar helps, every volunteer is greatly appreciated.

For instance I need a volunteer to play Frankenstein at Monster Mash. You'll be required to learn this dance. https://youtu.be/NZ5OJQj7y8M (Free drinks included)

Bad energy

We’re between trips. Just home from the National MPS society family conference in Minneapolis. Before that Jonah and I were in Canada at the Canadian MPS society family conference.

I have a love hate relationship with the family conferences. It was several years into our diagnosis before I attended one of the meetings. I had been warned that it would be very difficult to see the later stages of Sanfilippo. Jonah was so young and in great health, I sheltered myself by not going. The first conference I went alone and attended only a couple of breakout sessions, just the ones that discussed the research. I saw in real life what was to come for Jonah and I wasn’t courageous enough to embrace the Sanfilippo children. I hid in my room and worked until it was time to go home. The second conference I went to was a bit easier. This year I had a blast at the National MPS Society meeting. I can embrace all the children now.

Go figure…  It’s the newly diagnosed parents that I find harder to look at. Seven years I have been in this space, it feels like such a long time. The first three years, I was out of my mind, inconsolable. A seasoned parent’s advice only pissed me off. I didn’t want their words of wisdom I wanted them to help me fight our children's fate.

People grieve in many different ways. You never know how one parent is going to respond to the diagnosis.  I joined the Mothers breakout session, we went around the room and introduced ourselves. There must have been 50 of us from all over the US in the room. I noticed that most of the newly dx’d parents were sitting side by side. They were the last to introduce themselves. They had to go all the way around the room listening to the seasoned mom’s lightheartedly introduce themselves. After the session I found myself standing next to one of the new mom’s, her face was long and contorted in pain. I asked her if I could give her a hug, she looked at me, lips quivering and embraced me. But I didn’t know what to say to her, to ease the pain. There is nothing that can do that. The only thing that came to mind was: “Have you joined our patient registry yet?”

I didn’t say it. Instead I found myself saying: “It get’s easier”.

I went on to stumble through the conversation shoving my foot in my mouth further and further.
Later that evening, mingling at the bar, with parents and kids. I tried to engage a typical child who was pulling on her dad . Her dad was trying to have a meaningful conversation with another newly dx’d family. I bribed her with a cookie to come sit and read with Jonah. I didn’t hear what she said to Jonah, but the father was scolding her. He introduced himself and told me that his daughter was type A. I told him that Jonah was type C. He was taken aback and commented to me that he looked SO normal. His daughter thought otherwise and her dad turned to her and said: “Look Jonah is like your sister, he has special needs too and you’re not being nice to him.”

He said it right in front of Jonah. Oblivious, Jonah sat grinning at the little girl, anxious for her to come sit with him and read books together. I have this rule, nobody tells Jonah that he’s different. Here was another Sanfilippo parent having to tell his typical child to be nice to Jonah, because he was different. My feelings were hurt. I quickly brushed it off, remembering that I have said very similar comments to Jonah in front of other Sanfilippo children and their parents.  I sat down with Jonah and the little girl and read to both of them.

I was asked to speak on a panel with Mark Dant and Elizabeth Linton, at the Canadian MPS family meeting. Alexey, offered to have us stay at his house and his wife offered to help me out with Jonah.  Jonah is on good terms with Alexey and his wife, I felt like it would be a good trip and it was. The conference was fun, the Canadians are the NICEST people in the world. Why is that?

 Alexey gave Jonah and I a tour of the brand new medical building on campus. His new lab is state-of the art, beautiful and spacious. I didn’t realize that Alexey’s students would be at work in the lab. It felt like a Saturday but it was still before 5:00 on a Friday. I first saw Carla, the student that Raquel recruited from Portugal. As we chatted all the other students started coming out from behind their hoods and desks. They were wide-eyed looking at Jonah, nervous about interacting but wanting to get a good glimpse at him. I wasn’t prepared to see all of them and have them see Jonah. How do you respond to the team of young people who are working on a treatment to save your child and all of your friends children.  Alexey had a BBQ for all of us and we got another chance to get to know each other. A brilliant, passionate group of young scientists. Thinking about them now and having a face to go with names is comforting.

The week after the Canadian conference and the week before the National MPS society conference we attended Danielle and Kevin’s BBQ in L.I., NY. That was a lot of fun too, a smaller intimate group, I like the off shoot family get togethers, where you can just chill out with friends. Most of the MPS families at Daniel’s had already met Jonah in person. They are accustomed to Jonah and not shocked by his skills.

Two more reasons why I never went to the MPS society meetings until recently. One, I didn’t want Jonah to make the connection that he was sick. Secondly, I didn’t want the other families to be resentful that Jonah is doing so well. I know that there is some underlying resentment for many families. They can’t help it, I would be hurt too, to see my child wheelchair bound and unable to talk or do anything unassisted. While a boy the same age is running around playing tag or sitting down reading a book while waiting for dinner.  That would be hard to bare, it actually makes me feel ashamed that Jonah is doing so well. I feel like an outsider at the big conferences, even though the disease ends the same way,  for Jonah it’s slower to progress. During the slower progression, Jeremy and I get to see more of who Jonah would be if he didn’t have this disease. Parents I don’t take this for granted, I appreciate how ‘lucky’ I am. I saw the sting in the eyes of parents, when they saw and talked to Jonah. I know that you know that we can’t help it. Do people realize that I’m jealous that they have other healthy children to live for? I think of the many families that are watching ALL their children dying from Sanfilippo. No matter what, there is always somebody that has it worse then you.


At the moment I’m white knuckled fighting every urge to not jump on social media and read for myself what people are saying. I had hoped that I could sit here and reflect on the family meetings in a positive and productive light. Alas there is major strife going on between our community over an overt action taken by a parent against pharma that has gone viral in our space. It’s hard to ignore. On one hand I don’t even want to engage in the conversation on the other I feel that my hand is being forced to comment.

Back story for the layman, during the last 12 mo our MPSIII community has seen three treatments for MPS III dropped, 1 for  type A and 2 for type B (MPSIII C and D, don’t yet have any trials). Shire and Alexion being the most controversy. UniQure never got off the ground before they pulled the MPS III B program from their pipeline, there is still hope for this program, they are looking for  different investors. Shire had an ERT trial going on for MPSIII A, they abruptly stopped the trial and called the families in to have the ports removed from their children. Alexion announced this past winter that they were dropping their III B program but would finish out the trial for the families that had committed their time to the trial. Last month they went against their word and pulled the plug. Both companies stated that the results from the study were not meeting their endpoints. The families argue that they are happy with the changes that they are seeing in their children.  I have sat in on conversations and been a part of privileged meetings and my take is that the closing of the trials are for financial reasons. That’s my opinion, with that said I don’t know if the drug was really working. What is the definition of ‘working’ for pharma and the parents are different. The families are looking for quality of life, pharma is looking for a “cure”. I have heard from several families that they believed that the drug was working. But I have not personally talked to every family, the thing is not every patient will respond to a drug, for numerous reasons, this is one of the many reasons why we have trials. For ultra-rare diseases we have only a handful of patients to choose from for a trial, which makes trials less expensive for us to sponsor but also makes it harder to prove to the FDA that the drug is working, because we don’t have enough patients in the trial. The PI’s overseeing the Shire trial have stated that they don’t believe that Shire gave the trial enough time to come to a conclusive decision. I don’t know what the PI’s of the Alexion trial are saying.

I have already blogged about the trial closures, I did not start out writing thinking I’d blog about it again today. This is what our fellow mom did at the conference. She wore this shirt then (among other things) posed herself in front of the Shire table at the MPS society meeting. I don’t know this mom personally and I can’t condone nor applaud her actions. I can sympathize, when Jonah was dx’d I went out of my mind and for those of you that know me well would not be surprised if I did something like this. With that said I would have sought counsel before I made such a bold statement. I reckon my council would have advised me otherwise. Sean and Mari, I have considered your council and you’re right I I shouldn’t make the analogy of beating a dead horse with a stick reference in my next presentation.

For the record I DON’T like the company Shire, I fully agree that upper management is disinclined to listen to what the patients want. I have personally been insulted to my face by upper management at Shire. But I have also gotten to know a lot of great people employed by Shire.

I DO stand by the National MPS society. I know that the society is on our side and not in the pocket of big pharma. Families, you would be remiss to think otherwise. I know for a fact that Mark Dant has stood up to pharma and fought for these trials time and time again. I have witnessed these calls and meetings first hand. I’m hurt and disappointed in my community. We must work together to get things done.

Pointing the finger and blaming each other is the best way to NOT get what you want.
My agenda was to discuss the relevance of our patient registry ConnectMPS.org. I feel defeated today and I don’t have the energy to try and convince people why it’s so important to work together for our common goal. Treatment. I feel like I’m beating a dead horse with a stick…. oops, it just slipped out.

For those of you that have registered, but have not finished the diagnosis survey please do so by September first and you will be entered into a drawing to win a $1,000 Visa gift card. Log in and win.

I also wanted to thank all those that supported Jonah’s B.day wish. THANK YOU to all those that donated and I hope your kids have a fantastic new school year.

Sincerely, JIll