Rare Disease Day…. Who cares?

Rare Disease Day…. Who cares?

I obviously care and I want everyone else to care too. More importantly I want people to understand.  Compassion and understanding not Ignorance and bullying. https://youtu.be/PX9reO3QnUA

Jonah has opened my eyes and changed my life. I see people and view life in a whole knew way now. I see people on the street struggling to walk;  a person at the bank struggling to talk and I wonder what their ailment is. Not out of morbid curiosity but for the sake of knowledge. I want to understand.

In high school there were two sisters that had something going on. They were not overtly disfigured or cognitively impaired, they had slack muscles and thick fleshy skin. The girls had very few friends and seemed lonely. I wanted to know what was ‘wrong’ with them. But who did I ask? Thinking back, I wish I would have just asked one of the girls directly about her condition. Just knowing could have broken the ice for a friendship.

People don’t know how to respond to someone that is different. For me, I just didn’t want to say something wrong and hurt their feelings. I figured it was best to just not say anything at all. Which in retrospect probably made the girls feel worse.

Their father worked at the gas station in the next town over (in OR an attendant pumps your gas). Everyone called him ‘wobble arms’. My HS sweetheart called him that, he thought it was hysterical watching him pump gas. I was dumbfounded the first time I witnessed it. So not funny. I’m not going to describe it, because I don’t want you to laugh. The man deserved respect. He put himself out there where the whole fucking town could see him, trying to make a living. Trying to support his daughters that we all went to school with. I put 2 and 2 together, obviously the syndrome was genetic and this would be their fate too.

His daughters took tap dance lessons at my studio. Their mom was super nice but as shy as a butterfly. The classes had to have been a strain on their household budget. But now I get it, the classes were physical therapy for the girls.

At the beginning of the month I went to our annual conference on lysosomal storage diseases, WORLDsymposia. Before I left I attempted to book a meeting with Jonah’s principal. I wanted a sit down meeting with her.

She didn’t have time to fit me in before I left for San Diego, so I attempted to tell her what I wanted over the phone. My ask wasn’t something that could be simply done over a brief phone call.

First off, I wanted the school to recognize rare disease day (RDD) by marking February 28th on the school calendar and ask the kids to wear purple.  They have done this kind of thing on our school calendar in the past. Wear pink for breast cancer awareness.

My request exasperated my school principal. She said: “Oh Jill if we did that then I’d have parents calling me complaining that now they had to explain a rare disease to their child.”

I also wanted to have a take home sheet about Mission:Hide and Help sent home in the kids back packs. My principal started in on how hard this would be to get accomplished.

As if I care about hard, how hard could talking to the school board be in comparison to what I do on a daily basis. It took me two years to license a gene therapy program and all I did was talk. I know all about politics, lawyers and bureaucracy. Talking to the school board about rare diseases is nothing. Remember I have been very successful in moving members of congress to take action for rare diseases. https://www.youtube.com/watch?v=NXRG-qmBY1k&t=3020s I just can’t stand how complacent people become, when something takes a little effort to achieve.

Bullying is a hot topic at all of our schools, Jonah is a prime target for bullying. I worry about it every time he leaves the house.

The other day Mari asked if I had seen the movie Wonder?

I responded: “That’s a coincidence Jonah’s school had a showing of the movie and the author of the book was there for a Q&A.  But I didn’t go, we were in SD for the conference.”

I didn’t know what the movie was about, I just saw the banner advertising it on the front of Jonah’s school. I also got the notice about the movie event in Jonah’s folder. Jonah had even stopped me and pointed out the Wonder banner and said he had watched the movie. He attempted to give me details of the movie but the brain damage that Sanfilippo causes prevented him from being able to articulate the message of the movie.

Mari explained that the movie was about a 5th grader that had a genetic syndrome that caused serious facial deformities. I immediately pulled up the movie on Itunes and started to watch.

This isn’t a spoiler alert. I want you to watch the movie!

Jonah doesn’t have profound body deformities like the boy in the movie. Jonah’s facial and bone deformities are so slight that the average person and even an experienced physician wouldn’t pick them up. Jonah is 9 but he is cognitively a 5 year old.

When I found out that my school was promoting the movie Wonder, l I flipped out!  I flipped because this is exactly what I had just asked my principal to do and she said it would be too hard to accomplish. 

Meanwhile many of the classrooms had already watched the movie at school. Jonah being one of those kids. Jonah, also being one of just a handful of the kids at his school that could directly relate to this movie. Nobody called me to say: “Hey we’re going to show a movie that might profoundly resonate with your child.”

I want RDD on the school calendar. I’m deeply appreciative of the PTA’s Author Committee to show this movie at school. Wonder is exactly what I want kids to see and think about.

We could have tied in Wonder with rare disease day. I’m disappointed in the lost opportunity. If only I had known what the movie was about before I left to SD. If only I had had more time. If only my principal would have put 2 and 2 together and said: Hey I know… this is perfect introduction to the movie Wonder that our school board is hosting.

I’m really very frustrated right now. I wanted to talk about JJB’s RDD event, which is open to my local community but is scalable to any neighborhood across the country. Local peeps please check out the details here and join in on the fun.

 http://jonahsjustbegun.org/pokemonhunt/  

A huge thank you to Brooklyn Game Lab for supporting this event and helping us raise awareness for rare diseases.

I also wanted to share my experience about our trip to SD for WORLDsymposia, it was widely successful, but I’m out of time now. There are lots of pictures on JJB’s FB page which will give you a sense of what we did. I don’t like using my blog to discuss the negative.

I feel better for venting. I plan on turning this experience into a positive. Stay tuned. In the meantime can you all please follow us on our Mission: Hide and Help, FB, Twitter and Instagram accounts? More importantly watch the MHH video and follow through with it’s message.

SHARE SHARE SHARE.
https://www.facebook.com/MissionHideandHelp/ 
 http://jonahsjustbegun.org/pokemonhunt/  


This blog is dedicated to Kevin, who took his last breath in his mothers arms a week ago today.  Both Kevin and his mother are extraordinarily courageous people. They both taught me a lot about this journey we’re on and I’ll never forget them.

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.  

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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