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Wednesday, October 11, 2017

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

Tuesday, October 3, 2017

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

Wednesday, September 27, 2017

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  

Monday, September 18, 2017

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!


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)

Tuesday, August 8, 2017

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

















Sunday, July 16, 2017

Bring it on!


Bring it on... I'm waiting.

I have a wall of inspiration. It’s aggressive, powerful and motivating. It used to get me moving in the morning. Today I stood and stared at my to-do list; scribbled on the dry erase board.  Bored of it all. I just want my ultimate desire to come to fruition.

I’m waiting.  When you have something that is so heavily weighing on you, It’s hard to do anything else but wait. What do you do when you’re waiting? I feel like I'm sitting at the DMV office.  I can't wait to get the fuck out of here, but I need my license.

What do you do when you're waiting? I have already binge watched Breaking Bad and just finished King of Thrones. After several recommendations I tried watching Handmaids Tale, I hated the book.  I found the show to be even more annoying. Once an avid reader, I can’t even fathom picking up a book now. I’m getting my Phoenix tattoo colored in tonight, that’s another three hours killed. I got a tattoo of a chainsaw on my forearm last month. It makes me smile. For downtime these days, I chase Pokemon at the cemetery. 

I have been working... but it all feels like busy work.  I have a dozen or two irons in a ROARING fire, many others have been stoking it and I feel the heat.  It's good that  people keep probing me on and in return I probe the powers that be. I explain: "It's not just me!" 

I attempt to get excited about all the ‘small’ accomplishments that we have won.
We're here now, our accomplishments have added up.  A pharma employee commented on my last blog he said: "Wow! Congrats Jill! What amazing efforts - large companies would be hard-pressed to accomplish a fraction of this. You rock"

Once our drug goes to trial it will take a few years from trial-approval-commercialization. They call this 'bench to bedside' onto jumping the 'valley of death.' Sometimes your drug gets picked up immediately after FDA approval, other times it just sits there. No takers to bring your drug to commercialization, this is the valley of death.

Today I cleaned out all three of our AC units.... DISGUSTING! Meanwhile, Sean wrote me an abstract for a poster presentation for a conference in Brazil... Hey, at least I made a couple of edits and submitted it. I also had a couple of conference calls today and I followed up with my action items. I keep plugging my way along. Waiting for something awesome to happen. The enthusiasm for my B.day wish was a turn on and a break from the norm. Thank you all for donating!  Monster Mash will for sure be a blast and should turn my focus to this gig as it is uplifting. 

We just got home from the west coast visiting family.  The only overlap that Jeremy and Jonah both had off. I offered to go anywhere with them for vacation, Jeremy just stared at me. He responded calmly: “We’re not spending any money on an exotic vacation, because I know you won’t be able to stop yourself from working.”

This summer Jonah and I will be landing, taxing home, repacking and heading out again. 

I did well in Oregon, just a few breaks here and there on the computer and phone. We hiked the pacific trail, went to Seattle to visit the cousins, made smores, celebrated July 4th  with friends from NY doing the root 66 thing. Jeremy’s major goal was to canoe, my aunt granted that wish and brought down her canoe…  we all paddled up and down our river. Jonah did an awesome job and fully enjoyed himself. Jeremy found himself using some major clichés: “Jonah, don’t rock the boat.” “Jonah don’t drop the paddle, we’ll be up shit creek, without a paddle if you do.”

Jennifer and I leisurely paddled alongside them on our floaties. Scaring the schools of fish, freaking out the crawdads and annoying the cranes.  A red tail hawk made sure we knew he was there. 

 I’m back in Brooklyn working, Jeremy and Jonah are now upstate at the-in-laws. Elementary starts back up next week.  Jonah and I will be working the Canadian MPS family conference next week. We have a booth representing the ConnectMPS.org patient registry, I have a panel talk along with the esteemed Mark Dant and Elisabeth Linton. These are the folks that inspired Jeremy and I to follow the same path.

It’s an immense honor to be sitting side by side with my heroes and I’m really looking forward to it.  The Linton foundation SCRF, http://www.alifeforelisa.org/ is one of the three founding foundations for MPSIII.  SCRF gave funding to Alexey Pshezhetsky, before Jonah was dx’d wich allowed Alexey’s lab to find the affected spot on chromosome 8 that causes type C. We are forever in their debt. Sadly Elisa (pronounced Alyssa) passed away last November. The Abeona and BioMarin trials for MPSIII B had just started, Elisa was not eligible for the clinical trials. Trials that were inspired by Elisa and in part funded by SCRF foundation.  Mark Dant's son Ryan lived to see his parents crusade for a treatment come to fruition. Ryan’s treatment is not perfect and we still work for the silver bullet. In the mean time Ryan has graduated from college! Please watch this powerful episode and know that this could be Jonah’s future too. http://www.cnn.com/2017/05/12/health/ryan-dant-college-graduation-mps-rare-disease-profile/index.html 

It’s hard for me to call this a miracle… Because I know how hard Ryan’s parents worked to make this treatment a reality.  The miracle is that Ryan lived to see it.  Another powerful message from my friends the VanHoutan’s, they lost one child to a similar syndrome as Jonah, Batten disease. The VanHoutan family helped make treatment happen for those that follow in Noah and Layne’s footsteps. http://www.chicagotribune.com/news/ct-batten-disease-drug-met-20170707-story.html

What is in Jonah’s future?  I can’t tolerate thinking about it. I’d rather sit through three hours of a tattoo, rather then mentally take myself down that road. I had an emergency root canal this past month that hurt and after 5 visits it was finally resolved yesterday. I’d take a root canal and a tattoo everyday for the rest of my life over losing Jonah. Picture that. I’d have to tattoo over tattoos and replace crowns for the fun of it. So maybe that’s not a good comparison. But that’s the patients and pain that I would endure to see a treatment through to the end to save Jonah and or the next generation.

July, 30th is Jonah’s 9 Birthday, while in Oregon Grandma Wood had a surprise B.day party for him . We were having dinner out on the patio, Grandma and Aunt Jennifer whipped out a banquet table, dressed it and overloaded it with presents. Jonah watched everything come out. He backed up into my lap and whispered: “Mom, who’s B.day is it?”

He sat on my lap spell bound not moving an inch, as if he flinched the mirage would disappear. Once everything was in place Jonah moved into position with no hesitation or prodding. Loving every present that he opened for a moment.

He has asked several times since then if he’s 9 now?  He’ll be getting another party at Jeremy’s parents this week. I still need to plan his party with friends in Brooklyn. I wonder if he'd notice if he didn't get a friend B.day party on his B.day? I hope next year he automatically anticipates three B.days.

I applied for a new school for Jonah. Have no idea if we will get in. Back to School will be here in a flash. Fingers crossed he gets in.
Public school vs Private school

WE NEED YOUR HELP!

It's super easy, don't be lazy or tell yourself: "I won't be able to make a difference."

Listen to me and watch Jonah thrive, because people helped.

Everyone and their dog shops at Macy’s.  Even more so since Trump black listed them for not carrying Trump products, lol.  Politics aside.

Back-to-school will be here before you know it. Please act now to help JJB earn cash for our clinical trial.  For every $5 donation people will earn a savings pass up to 25% off at Macy’s. I take that back, NYC parents make it a point to not go to Macy’s, it’s an insane tourist trap in the heart of the city. For my NY friends please shop Macy’s online.

I have two asks, take your pick or pick both and earn extra credit.
1.)  Create a profile and join our team, share through social media to All your friends emploring them to donate at minimum five dollars and earn a 25% off Macy’s shopping pass.
2.)   Or you can just donate to our team
3.)  Extra Credit- Do both and help us win up to $100,000 in cash prizes.

·      Create your profile
·      SHARE SHARE SHARE. Tell everyone about JJB’s plight. Tell them that orphan bats have raised more $$ then terminal children.

Thursday, June 1, 2017

It's My Bday and I'll celebrate if I want to


Buy me something so I can re-gift it. http://bit.ly/JJBWishlist
I’m actually caught up! Knock on wood, I haven’t had a breather like this since I can remember, albeit it will only last for a couple of days. But for these few days I’m NOT going to create any extra work for myself. Tomorrow I’m going to go to Yoga class and then binge watch Game of Thrones. Today I walked through Greenwood cemetery, Brooklyn’s best kept secret. I met with a tattoo artist, the date is set for my new tattoo. Had lunch with a dear friend then bought some new sneakers for my hikes through Greenwood. Furthermore, I didn’t call anyone back or respond to any emails. I’m so proud of myself!
Red Tail Hawk at Greenwood Cemetery, just chilling.

Jonah is doing really well, he’s super funny and charming, even when he doesn’t mean to be, which is most of the time. I’m not living in denial, my entire week is consumed with the logistics of how we’ll bring a treatment to trial and then to market. I know exactly what will happen if we don’t. It’s just not worth obsessing over when he’s going to die or when will the treatment come. Live Life!

Happy Mother's Day, Anniversary and MPS awareness day to me.


Recently we have had some pretty big negotiations and projects come to fruition. Anticlimactic to say the least. It took over two years to sort out the terms and conditions on our exclusive licensing rights for our ERT type D program with LaBiomed. There was a lot of arguing involved, more back and forth then you could ever imagine. The fact that I have to go through these legal negotiations in the first place is a put off.  Phoenix Nest, our virtual biotech funded all the research to date. JJB won the creation of the knock out MPSIII D mouse model years ago, which put the science in motion. There are 2 people, twins, in the United States. Yes, I'm sure more children (young adults) will come out of the woodwork when we go to trial. Can you imagine trying to convince pharma to help you commercialize a treatment for two patients, in the US, possibly a 100 world wide?  Yet, I had to fight for the terms we got. The IP departments at University’s can be  greedy and tenacious.  Phoenix Nest has won over a million in grants to support this research. Phoenix Nest funds post docs that I have not met in person, they're great to work with though and I purchase equipment that I can’t even pronounce. Add grant manager to the list of my qualifications and I do the work for free.
That 'thing' cost $80,000.


I would not have been able to get this far if it wasn’t for Sean, my grant writer and CEO of PN,  Peg our  pro-bono lawyer from King&Spalding, Mary & Amy at McConville, Considine et al and my bookkeeper Deb. Mari, well she goes without saying.

Meanwhile I’m working on the same type of deal with an intellectual property department in the UK for the exclusive licensing rights for our MPS III C gene therapy program. Negotiations have gone a little more smoothly, but only after I contacted the Dean of the University and flew out to talk face to face with the manager of the IP department. The terms have finally been agreed upon, they can’t go back now. I’m just waiting on one little signature from an outside collaborator, then PN will have the exclusive licensing rights to our gene therapy program. These guys were smart enough to add a clause in our contract stating that I couldn’t disparage their name in public. LOL Not that I would, I think they just got nervous after I called the Dean.  Sometimes a little threat is what you need to get the ball rolling. The signing of our Gene Therapy agreement won’t be as anticlimactic. Our MPSIII C GT is nearly ready for trial. There is one MAJOR hurdle that we have to address, licensing and manufacturing the vector. I have to depend on my collaborators to move this portion along, this one is a bit out of my hands. I will lean hard on these people to move it along.

Years ago PN received the exclusive licensing rights for a chaperone molecule for MPSIII C and D. Working with the entity that holds the original patent was seamless. Every institution is different.  We have been modifying the compound for a couple of years now. Every 4mo we get several new versions of the original compound and it keeps getting better and better. The original version rescued enzyme but it was too toxic. We work with a chemistry group to help us design the new compounds, which are then sent to Alexey to test. The research lulled last winter when JJB couldn’t afford to replace the postdoc who left. Jeremy and I sold our parking spot and granted the money to Alexey, our new postdoc is now testing the backlog of compounds with great success. Our chemist is already working on additional designs from the new leads. This is the kind of stuff I get excited about.

Our chaperone program gets the least funding attention from our consortium HANDS, because we have placed Gene Therapy as our top priority. A chaperone for Jonah or anyone with a responding mutation could be our silver bullet, but it won’t work for all our kids. Gene Therapy is for all of our kids, the late staged young adults might opt to not have the drug. We continue with the chaperones, for several reasons. For late staged patients this is a more favorable approach then GT. Also the chaperone that we’re creating will most likely have implications for other lysosomal storage diseases. Gene Therapy (GT) is a one time surgery, a chaperone treatment is forever and can enhance GT. Brining us as close to a cure as possible.

Alexey also has two other MPSIII C programs in his lab. But that’s enough for the science for now.

Our Natural History Study has FINALLY been approved by the Internal Review Board (IRB) at Montefiore Children’s Hospital. I swear I thought I was going to have to beat someone up, I called the boss too, but I think you have to be scared of your boss to pickup the pace.The IRB is now with the National Institute of Health and waiting for approval. Dr. Levy, Paul is a very calm thoughtful man. He reminds me of Jeremy, he can’t be rushed and sometimes I just want to wring his neck. He is passionate about the kids and prioritizes them over the science. A lot of PI’s conducting trials of this magnitude put pharma first, Paul can’t be bought. His ability to connect with children is priceless, he can put children at ease, which makes for a productive visit. I’m anxious to meet our Neuropsychiatrist, I realize now the crucial role that she will play.

When Jonah was first diagnosed we drove out to North Carolina to meet with a geneticist, neuropsych etc..  We were at the clinic for a few days, the first day Jonah threw up all day.  We waited out a day at the hotel hoping he’d get over the bug before we did the cognitive testing. The next day Jonah was still irritable, not vomiting anymore but not happy. We met with the neuropsychologist and she immediately got down to business, ushering us all into a little room. The back of the room had a few book shelves, the other walls were lightly decorated and kid friendly the room was taken up by short round table, surrounded by furniture. The furniture overpowered the room, there were no windows and it was claustrophobic. Jonah was anxious he wanted to be free to move around. The doctor was commanding, she didn’t try to engage Jonah and win over his affection.  I was surprised by her rigid borderline militant demeanor. She knew that Jonah had a profound neurological disorder that caused caused cognitive delays, brain damage and sever behavioral issues. Her job was to administer a few cognitive tests, to do so she needed Jonah to be comfortable. She didn't bother to get to know Jonah and disarm him. I didn’t get it, I thought maybe for our sake she wanted to get us in and out. Later I learned that the evaluator was an outside contractor and her original appointment with us was cancelled because Jonah was sick, so she had to reschedule, I’m thinking she was pissed about having to rearrange her schedule. I’ll never know the truth.

On top of her abrasive personality, she had two different colored eyes. Not something you see everyday and not something Jonah had ever seen. Her job is to administer cognitive tests to children with neurological and behavioral disorders, kids like Jonah have irrational fears. Animals and anyone in costume freak him out (he’s almost over this now).  Probably not the wisest career choice for her.  Jonah lost it, he was inconsolable, he wanted to leave charging at the door, screaming bloody murder.  The evaluator was incensed, she kicked me out of the room, insinuating that I was the reason for Jonah’s ‘bad’ behavior. I was ready to leave, the whole experience was cruel, Jonah was sick, scared and tired. Jeremy was willing to try and hold down the fort, out of spite I agreed to leave.  Knowing full well that things would only get worse if I left.  I sat down the hall in the waiting room. Jonah didn’t stop screaming for one second, he was inconsolable, I don’t know how long I let him scream for, it felt like 20 minutes. Enough was enough I stood up and walked down the hall, just as I was about to knock the doctor opened the door.  She was harried, sweating her eyes bulging.

She attempted to apologize, then switched gears stating that a child such as Jonah needed strong discipline, if we didn’t do it now we’d never regain control of him. I took Jonah in my arms and we left. Never to go back again. She was right that Jonah and our family would need extra help to negotiate his behavioral issues. But that day was not the time nor the place, Jonah was upset with just cause.  Instead of setting Jonah up for success, she brought out the worst in him. Jonah didn’t know any better, but she should have. He was 2, sick and scared.

The silver lining…. I learned an invaluable lesson. Five years ago I didn’t know that I’d be lining up the team of doctors for our Natural History Study. I know first hand what it’s like for a parent and what works and doesn’t work for our Sanfilippo children. I will make sure that our families do not meet with the same arrogant belligerence. The NHS, is a five year longitudinal study that follows the course of the disease. The kids will come in once or possibly twice a year, they will have one day of clinical testing and another day of cognitive testing. If the children are upset during the cognitive tests it will affect the results of what they’re really capable of doing.
For parents starting down this road, take note and choose your team very very wisely. Ask yourself if this is the doctor, scientists or institution that you want to work with side by side for the next ten years….

What’s next…. We’re waiting for lambing season to begin again, which won’t happen again until next season…. Who knew.

We injected 12 healthy sheep last Winter. We’re looking for the best distribution avenue into the brain for our gene therapy. Explanation… the gene therapy drug can be broken down to three parts (layman terms) The missing enzyme, a vector and the capsid. The enzyme that Jonah is missing is called HGSNAT, the enzyme can be man made, the vector is a virus and is the delivery method (like a flu virus) and the capsid is the package around the enzyme and the virus. The virus delivers the enzyme to the cell. The enzyme then does it’s job of breaking down the storage i.e. Hepran Sulfate, the substance that should have been recycled by HGSNAT.  Sounds simple right, totally doable.
Once you have designed the drug to perfection, then you have to figure out the very best way to get it into the body. In the case of Sanfilippo syndrome which primarily affects the CNS, getting a virus into the CNS and past the blood brain barrier (BBB) is an extraordinary challenge.  The brain protects itself from viruses getting it past the wall i.e. the BBB is a major challenge.

The virus has to be minuscule, but still large enough to carry the drug. In the case of MPSIII C we have an added problem, in that our enzyme can't leave the cell. Most enzymes move around, but HGSNAT is a homebody and attaches itself to the lysosomal of the cell. So we’re planning to go straight into the brain. For the surgery several teeny tiny holes will be drilled into the skull and the serum will be injected in.  Sadly I can’t say anymore. One day it will all be published and available to the world. More importantly we will have a TREATMENT for our kids!

Claire, Brian and Ian, the neurosurgeon went out to New Zealand and with a team of vets; performed the surgery’s. That fancy brain software that you all helped us buy, guided Ian in the surgery. Today the sheep brains are back at Manchester, where Brian, Claire and their team are analyzing the vector distribution. Claire, below has the job of slicing the brains of 12 sheep and categorizing the sections then analyzing them. She's the best thing since sliced bread!
Claire O'Leary, our postdoc at Manchester, meets P.J. Brooks, NCATS, NIH. ASGCT conference 2017

I can’t apologize if this makes you squeamish, we don’t have any other options. This is my life and I want to share it with you.  The animals are all free range they are loved by vets and during surgery are given the same respect as a person. They were raised for this single purpose and everyone involved in this process is deeply respectful to the sacrifice that these animals have given, albeit unknowingly made for science; i.e. my son and maybe even yours. FYI I’m pretty sure that Brian likes his dogs more then he does people.

The sheep studies will determine how we will proceed with the clinical trial. We’re almost there, manufacturing the gene therapy will be our next biggest hurdle.

We’re actively seeking partnership now. For the first time we’re meeting with a tepid response from pharma and investors. Back in the day people looked at me with pity and politely implied: "You're screwed"

We have done EVERYTHING we set out to do. My ducks are in a row now and it feels good. I’m stretching out and preparing to jump over the “valley of death.”

In a few months we will be launching a few awareness campaigns focused on finding and identifying people with MPSIII.  I WILL NEED YOUR HELP!
Behind the scenes pic during the filming of Mission: Hide and Help
In the meantime you can buy your favorite Gemini a birthday present, I hope you choose me.  Trump is also a Gemini... yeah yeah, I know we both talk too much, it's a Gemini thing. At least I also LISTEN to people, especially to my advisors.  Go here,  Jill's B.Day wish list
The gifts will go to our next benefit  Monster Mash 

This is the best idea Mari has ever had... Well close to it. http://bit.ly/JJBWishlist