Follow by Email

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 clich├ęs: “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