It is time... Winter is coming.

Black Friday deals vs Giving Tuesday or a little bit of both… This morning I received a Google Calendar alert letting me know it was Black Friday as if it’s a National Holiday. Jeremy, Jonah and I have a family Black Friday tradition; tickets to the Big Apple Circus. We love it. Jonah LAUGHED so hard this year I wish I had a video of him just laughing and cheering for more. He loves the slapstick clown routines. I love that he loves it.

Big Apple Circus, 2018

I can’t fathom going into a mall to shop for Christmas presents, but then again I used to work in a department store on Black Friday. Working retail, ruined the holidays for me. I’m sorry I don’t like being forced to buy people stuff. It takes all the fun out of it. Jonah’s diagnosis also sucked the life out of the Holidays for me, I go through the motions for Jonah. The tree of course, Elf on the Shelf… Yikes! I have not pulled out Michele and Michelle from hiding.  I want Jonah to have everything that many American children would have at Christmas. I’m not a zombie, but I live life through Jonah. 

It’s implausible for Jeremy and I not to think that we won’t have holiday family-time memories into Jonah's adulthood. Jeremy and I as grandparents watching our grandchildren tear open presents.

Jonah helps Dad make an apple pie.

Jonah’s second Christmas was the best. We spent it at Grandmas house in Oregon. Jonah still on NY time got up at 5:00am just like I used to do as a child. He scooted down the stairs, I bounded down ahead of him to watch his expression as he looked at the tree and mountain of presents. The wonder and amazement as he thought is this all for me? Jeremy and Grandma kicked their own bodies out of bed to catch the moment. Priceless. Fortunately for Jonah, Grandma likes to shop.

I went to Seoul a few weeks ago. I was asked along with a few of the scientists that I work with to come out and present to an auditorium of scientists. I couldn’t say no, they offered me business class, I have never flown business class before. My scientists presented their MPS research and I told my story. My talk opened with Christmas 2010. Jonah should have had his diagnosis before the Holidays, but we lucked out. We had three cancellations for the MRI between August and January. For the first appointment Jonah was sick. The  second time they over scheduled Jonah and I left because Jonah was starving and we couldn’t wait anymore. The last time there was a snowstorm and they called and tried to push Jonah’s appointment back. Babies can’t wait until noon to eat. We made it through the Holidays, ignorance is bliss.

Seoul was pretty amazing. I have to admit, when it came time to go to Seoul I didn’t feel like going. Phoenix Nest  just moved into our new office, we had a mountain of work to do. I haven’t mentioned that in September Phoenix Nest won a 5 million dollar NIH grant. Hence finally getting an office. Funny thing not to mention. I know. It’s a HUGE deal and with it comes  with a lot more work. I haven’t been able to catch my breath. Then Jonah got hurt at school and we had to negotiate the wheelchair thing and doctors appointments. Something had to give so I cancelled our Halloween fundraiser. That hurt, I spent a good portion of the summer designing the set. I plan on re-booking for next Fall. Jeremy has taken on the responsibility of researching middle school for Jonah.I think we might have found it. But it's a lottery system, so fingers crossed.

Dr. Brian Bigger, Dr. Patricia Dickson, Dr. Tsui-Fen Chou and Jill Wood

Once in Seoul, sitting in the front row of the auditorium, shoulder to shoulder with the scientists that I have been working with for the past 4-8 years. I felt good. One by one we gave our talks. Brian actually complemented me, was that a tear in his eye?  I think he may have been moved....  My scientists don’t attend the gigs that I speak at. I have listened to them lecture a dozen times in a dozen different countries. This time I got to speak right along with them. I had a moment.

I stayed an extra day so that I could take a peek at the city, I never believed that I’d actually get to travel to Asia. I did one of those hop-on and off bus tours. It was really good. I could have spent a week, going through all of the routes. Way better than NY tour buses. I did do a little shopping, but I picked out what I wanted to buy for people.  Our HR and billing department director wanted to send me with a shopping list of items to buy in Seoul. I chagrined i.e that ain’t gonna happen.

By the way that 5 million dollar grant is for the MPS IIID ERT program that is happening at LaBiomed. Jonah has type C NOT D. Hence the funding isn’t going to a treatment that will help Jonah. Type C will get there. Brian and I have been getting quotes for vector production for our gene therapy program, this will help our IIIC children. Vector production is basically the one major science thing left to do before trial. Roughly 3.5 million stands between Jonah and a treatment. The rest of the work is trial design, applications, FDA meetings etc. This brings me to our big news.

JJB is merging with The Cure Sanfilippo Foundation, CSFF. There is a legal definition for this merger, in layman’s terms I’m legally shutting down JJB’s 501(c)3 status i.e. not-for-profit status. JJB will be joining forces under CSFF’s not-for-profit.

Since conception, CSFF has always been partners with JJB. They have been there for JJB in our time of need; coming to the rescue when JJB fell short on a gene therapy payment and funding another type C program that JJB couldn’t afford to take on.  Co-Founders Glenn and Cara i.e. Eliza’s parents are allies and friends. I am emphatically relieved that we have a partner that has the: passion, drive and infrastructure to take on JJB’s commitments and mission. I have no doubt that CSFF will uphold JJB’s name and more importantly help take what H.A.N.D.S. has built for MPS IIIC and D to the next level.  Official Press Release

JJB has come to a fork in the road in the race of life. To the left we have Phoenix Nest Inc. inching its way to the starting line, revving and rearing to go. To the right we have JJB exhausted and in the need of a gas. This analogy is a metaphor of me. Phoenix Nest is ready to take off but we can’t go until we find a loving family to adopt JJB. Tag you're it CSFF. We will see you and embrace you at the finish line. Long live our children.

JJB supporters. I’m not going to thank you for all of your support because this is NOT a GOODBYE, it is a HELLO. I know that many of you are already acquainted with our friend Eliza and the foundation that she inspired, CSFF. All the  Sanfilippo foundations inspired by children affected with Sanfilippo Synrome have the same mission in life. Save our kids. No parent should ever have to hear: “ I’m sorry your child has a terminal illness and there is no cure.”

.Donate to Cure Sanfilippo Foundation

Getting down to business. We will need all of your help to make it to the clinic. Our Holiday cyber fundraising will kick off momentarily.  Please get ready to promote TOMORROW as in Giving Tuesday tomorrow. Black Friday is over, if you got some major deals consider donating some of your savings to saving lives.

JJB’s Holiday Remit letter will be coming your way via snail mail and email.

Two ways to participate online: 

#1 CROWDRISE
For those of you who like to do the social media contests, please consider becoming a team member on Cure Sanfilippo Foundation's Holiday Giving Campaign. Save lives-Join the TEAM 
-Note this contest last through December and goes live Tomorrow as well. 

#2 FACEBOOK
https://fb.com/fund/CureSanfilippoFoundation/ 
-Note this contest lasts for one day. Tomorrow Giving Tuesday.  
You can prepare now by following the link. The post like crazy first thing in the morning. Last year the 7 million in FB cash prizes ran out in 20 min. So get your trigger finger out.

A special shout out to the JLM fans that have supported JJB and Jonah. Jonah has received your gifts and well wishes.  Please know that Jonah has loved every one of them and I personally commend you for shopping. You’re a better person then I. Jeremy and I read with Jonah every day, it keeps Jonah engaged in reading, retelling the story and writing. We love Avengers and Marvel, all your books made his day. His leg has healed and he’s back to his rambunctious self. Writing thank you notes is one of our activities to keep him writing. But if you don’t get one, don’t hold it against us.  Please know that we appreciate your gifts of well-being.

Please continue to follow JJB and make your donations to Cure Sanfilippo Foundation.

Disclaimer:
-JJB's not-for-profit status will continue through February. If you make a mistake and send to JJB we will still receive the donations and will transfer to Cure Sanfilippo Foundation.
-By February all JJB social media sites will change to community pages and donation options will be reverted to Cure Sanfilippo Inc.
-JJB's branding will remain relevant, but in my own voice. Everything I say in my own voice are my thoughts and must be taken with a grain of salt. Families of Sanfilippo children should always due their own research and talk to their doctors. I am NOT a doctor and I do not give medical advice. If I accidently do, ignore it. I take no responsibility for my own words.
-Remember as the director of a biotech company, Phoenix Nest, I have a conflict of interest.

Follow Cure Sanfilippo Foundation too. :)
While you are online please like and follow Cure Sanfilippo Foundation on:
-FB: https://www.facebook.com/CureSanfilippoFoundation/
-Twitter: https://twitter.com/CureSanfilippoF
-Instagram: You can find that link on your own. Instagram is too hard for me.
-Website: https://curesff.org/
CSFF address:

curesff@gmail.com

P.O. Box 6901
Columbia, SC 29260

-Lastly you can change your Amazon Smile to Cure Sanfilippo Foundation.

BTW... If you want to read more about Phoenix Nest and what that company is doing go here for our recent press releases. http://www.phoenixnestbiotech.com/news/


FYI... This is weird for Jeremy, Mari and I too.  We don't take it lightly, I have been thinking about how we would handle this transition for months now. JJB will always be here, I have a tattoo of the logo and so does Uncle Josh! I have confidence that CSFF will uphold everything that HANDS built.

Happy Holidays, I hope your Thanksgiving was delicious! The apple pie that Jonah and Jeremy made  was amazing! Jonah is a surprisingly good baker, he knows his way around the kitchen.

Lots of Love,
Jill, Jeremy, Jonah and Mari

Kicked to the curb

Kicked to the curb

On every avenue corner in my hood construction workers are replacing the portion of the sidewalk at the crosswalk.  They are making the slope softer and adding a textured pad, so that the visually impaired can feel when they reach the crosswalk. I think it also helps to keep wheelchairs from sliding too. The new sidewalks make me happy. I have much respect for the visually impaired. They have to be incredibly brave.

Close your eyes and attempt to walk down 5^th avenue Brooklyn, no way I wouldn’t last 60 seconds. Every time a visually impaired person takes a step it’s a leap of faith. Hoping that you won’t fall into a basement, manhole, run into a pole, tripped by a dog leash or hit by someone or a car. A few weeks ago, Jonah and I were walking through the crosswalk of one of our busiest intersections. There was a visually impaired man getting close to the crosswalk at the other side. When I came to him I asked him if he’d like to take my arm. “He said but didn’t you just come from that direction? I could hear you talking to your son.”

I told him it didn’t matter it was a gorgeous day outside and we could walk with him. He smiled and agreed. When we got across the street, Jonah yelled: “Mom did you just help that man?”

Jonah is yelling because he is hard of hearing. I told Jonah: “We helped that man.”

Jonah smiled and nodded his head in agreement.

Thursday Jonah was sitting on the ground at recess. He wasn’t accompanied by his para. Some confusion as to what period it was. Was it recess, lunch or recess/lunch break? Regardless Jonah will never go unattended anytime he is on the playground. It is a crap shoot trying to get the facts of a story from Jonah. Jonah said he was sitting on the ground when a girl ran into him. Did she step on him? Did she fall on him? Was she hurt too? Was she running backwards? Why didn’t she see him? Was Jonah sitting cross legged or with straight legs?

I’m curious because I don’t understand how it is that a young girl could have chipped Jonah’s knee by stepping on him in a sitting position?  Does Jonah have brittle bones? We’re going to an orthopedic specialist next week. Sanfilippo aka MPS III is one of the only MPS’s that does not have ‘serious’ bone deformations. This depends on your definition of serious. The other MPS disorders have bone deformities so bad that most patients have had numerous surgeries. Visually you would have to be visually impaired not to notice that the person had major physical issues.  In comparison MPS III bone deformities are minor.  Notably there is one paper written on MPS IIIC Sanfilippo patients having to have hip replacements. I say notably because there is next to nothing written on the course of the disease. I have not seen an MPS IIIC child that did not have at least one minor bone deformity. For instance, all of our kids have frontal lobe bossing. Scoliosis is quite common as well. Jonah has a raised sternum and flared ribs. More concerning is a deformed vertebra. 

On my way to pick Jonah up from school the Nurse calls, she said that Jonah got hurt at recess that a girl ran into him. He hurt his knee and he can’t stand on it. But she couldn’t see any bruising because his pants were too tight to look at his knee. Stupid skinny jeans. She said that Jonah was calm. It was the end of the day and I was on my way. I get there and Jonah can’t walk.  I was surprised. How is it that he is hurt this bad? Jonah’s para and teacher assumed that it was just bruised. Jonah has a high tolerance of pain. I assumed something more happened. Maybe his knee was dislocated or a muscle pulled? I called an Uber to come get us. At home his knee was swollen, but there was no bruising or abrasions, we iced it, he took some Tylenol; ate dinner and went to bed. Jonah slept through the night but couldn’t walk in the morning. We went to urgent care. X-Rays showed a chip in his patella i.e. kneecap.

Not one person has come forward to say that they saw the accident. Jonah should not have been sitting where kids were running and playing. If his para had been there this would not have happened. Assuming his para told Jonah to stand up. Recess is my biggest stress. I fear accidents and I fear bullying. Breaks my heart that Jonah was sitting alone against the fence.

The curbs. 

Jonah had a dentist appointment this morning. We would not have gone If it wasn’t for the fact that Jonah hadn’t been to the dentist in a year and I had to cancel his last two appointments because we were leaving town. Yesterday, I rented a wheelchair so we could get to and from school. The wheelchair is poorly designed. My back was already aching from caring Jonah down the hall to the bathroom. The arms on the chair are too short and I have to lean to push him. Walking down the street, the curb repairs are killing me. We have to go around the construction and I have to hoist the chair back to get over the high part of the curb. Or if a car is parked right at the intersection we have to stroll into the street to find a gap between the parked cars big enough for Jonah’s wheelchair to get through. It is a logistical nightmare. Jonah wigs out when we roll in the street. He is terrified that a car will hit us. Again, people live their lives in wheelchairs, they deal with the perils of daily living on a daily basis.

Laying low in the other room doing some cathartic writing to bring me down from one of the worst days in our Sanfilippo life. Yet I can’t bring myself to write about our dentist appointment this morning. It’s too painful for ME. I’m relieved that I’m not in jail and that Jonah is not in the custody of social services. The bright side… Jonah’s dentist was UNABLE to find any cavities. The worst part happened after the dentist appointment. Can’t go there right now.

My Sunday morning started out on the wrong note. Grabbing my caffeine fix at my favorite coffee shop, I see a huge stack of postcards sitting on-top of JJB’s postcards advertising our upcoming fundraiser. The postcards are for an animal shelter and their fundraiser is happening the same day and time as JJB’s fundraiser.  There were at least 40 cards stacked on-top of JJB’s cards. JJB purchased 300 cards to blanket the entire neighborhood,  that is what our budget allowed. BooHoo

Jonah and Jeremy were still sleeping when I got home. I took the opportunity to read an article that Jeremy sent me. The Mighty is an online paper representing those with disabilities from mental illness to rare disease. The Mighty has recently been put in the spotlight for bringing attention to the current presidents ableist comments. https://themighty.com/2018/09/trump-disability-views-blind-trump-tower/ The article referenced Donald Trump’s comments about having brail numbers next to the corresponding numbers on the Trump Tower’s elevator panel.

The article had a link to a Howard Stern interview with Trump. In the interview Trump calls someone mentally retarded. The video led me to a plethora of Youtube videos of Howard Stern and Trump chats. The depth of his stupidity is unmeasurable and what is his excuse? Spoiled brat? This is our leader? Our children’s role model? Maybe I should pull Jonah from school. I worry constantly that Jonah is being bullied, that his teachers aren’t trying to teach him, that he’s sitting alone on the playground.

My visually impaired friend. 

Back in the day my sorority did this ridiculous program with a neighboring fraternity, it was supposed to be a building friendship’s expanding your network premise. It would have been nice if it was a get to know the sorority girls across the street. Sadly, it was hook up a fraternity guy to a sorority girl and see if they hit it off. The fraternity officers were concerned that none of the sisters would want to be with their visually impaired brother. They asked that someone from my house ‘volunteer’ to be Mario’s partner.  I immediately threw up my arm. Disgusted by the program and hoping Mario would be a gentleman. Mario and I got to be friends, we ran errands together, I helped him shop and he showed me his world. We talked about books, he showed me how he read Braille. He wrote to me in Braille and I deciphered it. He shared stories with me, he wasn’t always blind. Mario was born in Colombia his dad fired a rifle next to him and the gun powder blinded him. He was adopted by American's. Those manholes… Mario actually did fall into one right on campus. Fortunately, the guy in the manhole broke his fall. Serves him right.

This week is going to be good. I can feel it in my bones (not really) but the power of positive thinking does help. I won’t read any articles or surf twitter. I’ll focus on the fact that Jonah will be out of his wheelchair soon and if I can help it… He will never go back into a chair again.

I hope you all have a good week too. If you see someone impaired in anyway, help them across the street, grab them the jar that they can’t reach at the grocery store. FYI your smile makes people feel better. 

Jonah is super bossy about which way we should go.

Potty Talk

Potty Talk

Back from 35 days on the road. Can’t say it’s entirely good to back in Brooklyn. It’s non-stop rain here, mixed with clear skies and extreme humidity. Dropped my computer last night, it nonchalantly slipped off my lap hitting the floor head on, on the corner. That's the sweet spot right there. It likes cracking your elbow on a marble counter. Shooting stars every time. Locked out of my apartment building this morning. Had just dropped Jonah off at camp, that’s the good thing. The door lock was broken, I stood in the pouring rain and waited for someone to come out so that I could go in. Never said I didn’t believe in Mercury retrograde. Usually I get good news during this time of year, vary rarely do I get the communication and travel breakdown crap.

Spent the bulk of our 35 days in Oregon, I needed my mom’s natural crafty talents to help me on our next fundraiser. I also needed space for our set design. Can’t build a 10x10 gingerbread house when your largest room is 10X10. If we had the same type of camp options in Oregon as we do in Brooklyn, I’d stay the whole summer, just to escape the ickiness of NY summers. Jonah needs interaction, if he doesn’t get it there is hell to pay. I left many projects unfinished for my mom to wrap up. Sorry mom. Our payment is leaving you to enjoy a peaceful rest of the summer. You can plug your t.v.’s back in and watch CNN now. Jeremy is back at work shooting Elementary, he only got to spend a week with us in Oregon. It would be nice if filming schedules followed the public school schedule.

Jonah had a wonderful 10th Birthday at his cousins house. He just eats them up. He got everything he wanted and ate his cake too. I’m still waiting on my Bday wish, it’s been the same one for the past 8 years. I did have an awesome Birthday, I asked that people buy me gifts from my amazon wish list. All my gifts will be re-gifted to our Halloween fundraiser auction and raffle tables. If you want to help polish off our wish-list in honor of Jonah’s Bday, I’d greatly appreciate it.  Think of it like this. Jonah absolutely loves the JJB fundraisers. He assumes that it’s his party that we’re throwing for him and all of his friends. We’re like the coolest parents like that. Plus you will be saving me from having to beg for donations, walking up and down 5th Ave in the torrential downpours and blazing heat. You can get us something here and consider it your good deed of the day and know that I love you for it. https://smile.amazon.com/gp/registry/wishlist/3MR2XEXXAI90J/ref=nav_wishlist_lists_1

Jonah is still blissfully ignorant to what is happening behind his back. He’s back at camp now and enjoying every second of it. So much so that he refused to stop what he was doing to use the bathroom before they got on the bus headed to the Natural History Museum. Jonah alerted his counselor that he had to pee when it was too late. Thankfully I had an extra pair of underwear and shorts in his bag. When I heard what happened I thought as I always do… I hope none of the other kids saw. Camp left me a message saying that it didn’t phase him at all and none of the other kids saw. When Jeremy got home Jonah told him about the dinosaur bones and all the cool cavemen.


Oregon-Washington-California.

There were several reasons as to why we stayed out west that long. First being I needed help. Actually all points came down to me needing help. I didn’t want to fly out to the west coast twice with Jonah in a month. I wanted Jonah to have a special 10th birthday surrounded by people that loved him unconditionally. Lastly I needed my sister to help me with Jonah while at the International MPS conference.

Jennifer is absolutely fantastic with kids, she gets into their brains. She’s got Jonah down. I would not have survived that conference without her. This is how it all kicked off. On the way to the airport, we stopped at Starbucks. We all had to pee. Jennifer walks in and takes the first stall. The second was occupied and by the noise and smell coming out, it was going to be occupied for awhile. Jonah and I quickly stepped back outside and waited. The occupant of the first stall came out, Jennifer was washing hands behind her. The women made quick eye contact with me and started to talk, she turned passed me and kept talking. She said: “He shouldn’t be in here.”

I absolutely can’t stand passive aggressive comments. If you want to tell me something that is uncomfortable for either of us, have the courage to say it to my face or don’t say it at all. I turned and tapped the women on the shoulder and said: “ My son is special needs, I’m not going to send him into the men’s bathroom by himself.”

Aghast- she had that stunned “oh gracious me” look on her face and in her demeanor. Reaching out for my arm holding it tight, she apologized: “I’m so sorry I didn’t know.. BUT he PEEKED at me!”

Seriously… Seriously… That’s hysterical. I’ll be laughing about this episode for years to come. He peeked at me…. Oh my.

We got to PDX and stood in line for over an hour. There were several families straight up moving with half a dozen cardboard boxes to other states or countries. A few of them brought everything but the kitchen sink. One family in particular was heading back to Taiwan, the dad only had a green card, no passport. Anyhow it was a mess. Jonah held his own, I was really proud of him. Jonah’s big reward for being good during the whole check in and security process is time on my I-Phone. But this time he hadn’t earned the phone beforehand. Okay unfair. I extended earning the phone to the day before. The day before the flight, in a fit of rage he kicked Grandma in her knees. Grandma is having her second knee replaced next month. So Jonah lost phone privileges before we even got to the airport. Knowing that he wasn’t getting the phone, Jonah was patient and polite at the airport. He knew that once on the airplane he could watch t.v. I let him have that reward. We had a bit of a layover. I didn’t properly prep Jonah for the fact that the second plane might not have inflight t.v. Lesson learned.

Jonah sat down in his seat and promptly demanded the phone. Jennifer was one row to the left behind us. When I’m with Jonah I always board the plane last. Thinking that the less downtime on the plane the better. We had a full audience when Jonah snapped. He reared up against the window and pummeled me with his feet. Screaming:  “I want to watch!”

I was taking feet and fist in the face; trying frantically to calm him down. Most people probably would have whipped out their phone to pacify their inconsolable child. I felt the passengers astonished stares on me as I told Jonah: “We’re going to get kicked off the plane.” “Do you want that?”

I made darted glances at Jennifer, not wanting to make eye contact with any of the other passengers. Do we switch seats? I didn’t want Jonah to beat on Jennifer. Once he tastes blood, there is no going back. I can’t give Jonah the phone and I can’t switch places, it’s admitting defeat. I don’t know how I talked Jonah down. I tried not to cry while the other passengers continued to stare in disbelief. In debriefing Jennifer said that everyone in the seats surrounding us agreed to kicking the kid off the plane. Thankfully the flight attendants were preparing for take off and unaware as to what was happening in seats 22A and B.

The flight was short. We landed and met up with Mari and then Sean for an early dinner. Sean and I went over notes for our ‘big’ meeting. Jennifer took Jonah to the swimming pool. Mari and I caught up and prepped for the conference. Mari would be running the patient registry booth. Just before bedtime Jonah and Jennifer came back, Jonah makes a show of ripping his wet swimsuit off. Jennifer maintains composure as she tells their swimming pool adventure.  It was fun, they met a family with 4 kids that accepted Jonah into their clan and they played nicely. A poop showed up and floated by Jonah. Jonah spotted it and immediately scooped it up and tossed it out. Jennifer buoyed in shock. A guest stepped in it. For the second time that day I went from horror to piss my pants laughter.

While Mari worked the patient registry booth I was busy with back to back meetings. Jennifer took Jonah out on daily outings, Lego Land, Sea World and the kids museum. It was a huge relief having her there. This conference has a science program running in tandem with family programs. You can pick which session you want to join, while your kids hangout in camp courage. The kids have outings and fun things to do at camp, but…. they have video games. From past experience I did not want Jonah sitting hanging out in camp courage with a video game for three days. He won’t leave it, it’s awful. Last year he pooped his pants because he wouldn’t leave the game. I’m constantly distracted by him and worried about what he’s doing. I’ll never go to another family meeting without Jennifer again. Jonah woke up every morning and asked for his Aunt Jennifer. He told me that he loved Aunt Jennifer so much because she made him so happy.

Aunt sandwich.

With the exception of Sean, this is my support staff. In the purple polo is Levi's dad, he's there for the free dinner. In blue is Brian Bigger our gene therapy scientist and in the orange polo is Steve Gray, he tells me what to do. That's Patti Dickson our type D ERT scientists and that's Alexey Pshezhetsky in the black polo. What's with the polo's? Among other things Alexey discovered the gene that causes MPS IIIC. And you all know Mari, she made the reservations.

Mari presents her first poster. This is a special moment for me.

I sat in on one session for the parents. It was filled with recently diagnosed families. I usually pass on these sessions because I don’t want to relive the pain of the early diagnosis years through them. I’m glad I went. Listening to them talk about how hard it is to balance daily life, how tired they are, walking zombies. The house an absolute disaster, constantly on edge, eyes growing out on the back of their heads. Their Sanfilippo child abruptly knocking over their baby brother or sister, danger lurks around every corner. Yet through it all they fiercely love their children and are fighting for their welfare with every breath that they take. It’s sick that I take reassurance from them. We’re all going through the same episodes. I’m not alone.

Back in NY, planning our Halloween fundraiser  “Little Gingerbread House of Horrors.” It’s Halloween, something has to be scary. But the theme is a sweet twist on Hansel and Gretel. Picture Hansel and Gretel travels to Candyland and meets a Witch. Planning fundraisers are hard work but it's a nice break from the slow and painful medical and legal stuff. 

Brooklynites mark your calendars for October 28th, more details to come. A huge thank you to our sponsors: Park Slope Pediatrics and Park Slope Daycamp.

#ItsJustSocks

I felt the need to change the title of the blog to #ItsJustSocks (I crack myself up) Also in honor of this blog, Mari added a raffle to her crowdrise goal Mari's Mudder-39 Reasons. 

crowdrise.com/o/en/campaign/39-reasons1/marielainagarcia

Jonah and I are spending the entire month of July in Oregon. If you’re thinking it’s a good opportunity to bust into our place, you should know we don’t even have a tv to steal.

We have to make it to San Diego the day after Jonah’s B.day for the International MPS society meeting. When I was booking our trip to OR-JFK & JFK-SD I realized what a waist of time and money to fly to the west coast twice in one month. I had already been thinking about Jonah’s 10th Bday on the 30th and what it was we were going to do. Jonah doesn’t have any besties. The intellectual gap between Jonah and children his age is too large to ignore for most children.

The last playdate we had with a boy Jonah’s age was heartbreaking. Our guest told me that Jonah was annoying him and he wanted to go home. The playground is really hard for me. It’s tough watching him attempt to verbally interact with kids his age.

The playground. The worst time to go to the playground is before ten o’clock. That’s when the new parents are there with their toddlers. Now that we don’t have a t.v. Jonah starts asking to go to the playground right after breakfast. Since Jeremy has been on hiatus he has been on playground duty. This particular Saturday morning Jeremy was slow to rise, Jonah was already in his non-stop repetitive state: “Can we go to the playground?” “ “Can we go to the playground?” “ “Can we go to the playground?”   “Can we go to the playground?” “ “Can we go to the playground?” “  “Can we go to the playground?” ““Can we go to the playground?” “


To save myself from the repetition I took him. I wore my printed ‘fuck off’ gym sox. The playground was already peppered with at least 15 toddlers at various stages of growth. They’re mommies and daddies, huddled around in little puddles, some had a new baby hanging from their chests snuggled in it’s Baby Bjorn. I felt guilty and rolled down my fuck off sox.

Jonah surveyed the situation, looking for kids that could run and play tag with him. He settled on two boys probably six or pushing seven years old. The boys were tied at the hip, Jonah was an outsider, he had to work hard at breaking the ice and into their activities. Persistence, Jonah is good at that, he got them to play tag with him. When the other boys tired and ran back to their mothers Jonah followed. I sat across the playground from one of the mothers, never saw the other mom.

Like a bird watcher, I kept my distance and just watched the interaction. Jonah sat next to the mom, he didn’t sit right next to her, he perched himself up on the back of the bench, so his feet were next to her. He sat there and watched the boys play, he talked to her. I have no idea what Jonah said, he says random things to break the ice. He probably told her that we got new fish or that he was going to go see his grandma tomorrow.

I could see that things were going south for Jonah, the boys kept running away from him and huddled together. I went to check in. The boys didn’t want to play tag with Jonah anymore; Jonah was irked with them. The boys didn’t understand why Jonah couldn’t switch gears and play something else. I tried to get Jonah to go home. Instead he came and sat with me for awhile, after he regrouped he ran out to play with the boys again. A bit of time passed and one of the kids came up to me and said: “Your son told my friend Dustin that he was stupid.”

Really? I questioned the kid, I didn’t think the kid was lying. My heart leaped, that’s great I thought Jonah used stupid in the right context. I have heard Jonah say stupid once or twice in his lifetime. I placated the kid with all the things a mother is supposed to say at these times. A few minutes later Dustin’s mom paid me a visit. She echoed the same thing as Dustin’s BFF and added: “I’m trying to teach Dustin to stand-up for himself.”

I stared at her, trying not to laugh, and wishing I had not rolled down my fuck off sox. Seriously, was she standing here telling me that she’s trying to get her son to stand up for himself and to fight his own battles?

I thought for a second, maybe Dustin was special needs too? Why else be so offended that Jonah called Dustin stupid? I’m assuming the reason why Jonah was able to use stupid in the correct context is because he gets called stupid by a peer on a daily basis. Imagine that lady.

Again I said the things a  mom is supposed to say in this situation. It’s just polite playground politics, I know it can happen to anybody. Jonah came over and sat down. He wasn’t in the least bit interested in telling Dustin that he was sorry. Jonah was obtuse, he figured he was in the right. I leaned back so that Jonah couldn’t hear me and I said to the mom: ”Jonah has brain damage, he doesn’t know how to act when someone else is mad at him. He doesn’t have that level of social skills.”

Her response: “I guess there is something to be said for having brain damage, your feelings don’t get hurt.”

Pin that for a second. Here is this mom coming over to tell me that my son called her son stupid. I had hoped that the women was astute enough to realize that Jonah was special needs when he sat by her and talked to her. I purposely put an MPS awareness t-shirt on Jonah that morning, for this exact situation. I couldn't get him to wear his hearing aides.

I played out like I cared and reprimanded Jonah, Jonah mumbled I’m sorry and gave Dustin a half-assed wave. The mom stood and stared at Jonah, contemplating. Jonah was expressionless, picking his nails, staring across the playground. Probably thinking who else is here that I can play with. I couldn’t tell if she thought Jonah was evil or if she just couldn’t believe that this normal looking kid had brain damage. Maybe it occurred to her that she had just stuck her foot in her mouth. They left.

If Jonah ever hit another child or ripped something out of his hand in aggression, I’d  take it seriously and deal with it accordingly. So Jonah called the kid stupid, it’s not like he told him to fuck off. Did she ever stop to think why Jonah might have called her child stupid? Maybe her sensitive son, hurt Jonah’s feelings?

When Jonah is at the playground he is the happiest. His smile radiates his laughter bounces around the playground, that glee is what gets Jeremy and I through the worst of times.
Jonah doesn’t get invited to Birthday parties anymore, not that kids don’t like him, they just don’t have much in common. I don’t think he notices if he does he gets over it fast. He loves his Bday parties almost as much as he loves the playground. I’m relieved that we will be spending his Bday in Oregon with family.

Family.  We have two families, a biological family and our MPS family. It is very rare to meet someone not in the Sanfilippo tribe that understands what it’s like to know your child is going to die before you. You want to be with those people the same way you want to be with your own family. 

I’m sure it’s the same for any type of thing that makes you feel different in some way.

Suicide is another tribe that you don’t want to belong to if you can help it. On Fathers Day I attended a ‘celebration of life memorial’ for a man from my neighborhood. I didn’t know Muli well, but I had gotten to know his wife over the years and I adore her. Muli left behind two little girls around Jonah’s age, they went to the same school.

As a daughter of a man that also committed suicide, I thought fathers day was the perfect day to have a celebration of life party. A mom and two young daughters surrounded by their cousins and friends and adults that all loved and honored their dad. The guests gave tributes, those from far away recorded tributes in Hebrew. A performer danced out one of Muli’s musical pieces, singing, laughs and tears. The kids ran around the ballroom as quietly as they could. Two barely one year old babies sat on the floor next to me. I watched them while Muli’s guests paid tribute in Hebrew, little weeble-wobble’s pushing colorful wood circles and squares around coated wire. So excited they drooled. I wanted to stick a straw in one of them and suck my way back to the beginning of life.

The party was held in the ballroom at Muli and Zippi’s temple. They were both raised in Israel, I recon that makes their daughter’s first generation Americans. I was surprised that there were not as many parents from my neighborhood in attendance. At his services (held two days after Muli’s death) the temple was packed with our close neighbors and school parents. I admit when the ballroom filled up and I realized I was one of three people that were not Jewish, I thought that maybe I wasn’t supposed to be there. My insecurities were on me, my attendance was accepted and appreciated. One of the organizers of the celebration assumed it was because it was fathers day in America. I’m not so sure of that. I’m oblivious to religious and cultural differences, I guess there is something to be said about being stupid.

So don’t laugh at me. I belong to a facebook and IM group for those that play PokemonGo in my hood. I got into the game because of Mission Hide and Help. I stuck with it because it’s fun. I like collecting the ‘virtual’ characters. It’s like any other collection, except this collection doesn’t sit on your windowsill collecting dust. My neighborhood Pokemon group sends out instant messages for a time and place to meet for a ‘raid’. People that can make it respond yes or no. This group is mostly made up of young adults from all different cultures, from China to Columbia and all spots between. When I show up to the meeting spot my fellow PokemonGo friends scoot on down the curb to make room for me. I’m thankful that they welcomed this old white lady into their tribe.

Speaking of multi-culti friends (inside joke) JJB’s very own Mari is participating in a Mudder. Yes, Mari might be stupid, but her heart is definitely in the right place. Please cheer her on. Go here.
Mari's Mudder


Kind Regards,
Jill

I'm not helping you, It's not my job

When I initiated the patient registry for MPS III C and D I was not thinking that I was doing an altruistic deed for the community. I viewed the registry as an absolute necessity for a treatment. https://mail.google.com/mail/u/0/?tab=Xm#inbox/163d13798b58c1f1


I wanted to know where our patient population was, how many patients do we actually have and how old are they… I wanted to know this because JJB and HANDS is funding research for MPS IIIC, one of the rarest version of all the MPS’s. I want to prove to pharma that we have the patients, in hopes that they’d be more willing to develop a drug for us.

There are only a few dozen known patients in the U.S. this wasn’t enough for pharma to be enticed to pick us up.

For example:
Back in the day I had a call with an up and coming CEO of a small biotech that claimed that his company was focusing on rare diseases. I wanted to talk to someone in the rare disease space and get some advice, maybe make a new mentor.  JJB was still in the early research stages, I wasn’t asking for any money, or partnership from this person.

When the young man realized that I was a mother and the co-founder of a non-profit, he apologized for my situation. He kept apologizing and I kept trying to turn the conversation back to business. Asking for any advice on what my game plan should be. He commented: Your disease is so rare your disease is so rare, your disease is too rare. I had to hold the phone away from my ear. I tried to tell him about the programs that JJB was implementing to help find our patient population. He became exasperated with me, he was patronizing and his tone changed from sympathetic to annoyed. Finally he said: “Your disease is so rare that nobody in this space is going to touch it with a ten foot pole.”

That was that. Obviously there was no point in trying to beat that dead horse with a stick.

Last summer I was invited to a workshop, the keynote speaker was this same guy. First time, I’m seeing him in person. I listened to his presentation, he loved himself and couldn’t help but sharing why he loved himself, he practically gave himself a pat on his own back. 

After my call with him, I promised myself that if I ever met this guy in person I would let him have it. I imagined being at a cocktail hour after a conference and one of my notable colleges turns to introduce us. Me casually remarking: “Oh yes I know you, you’re that guy who told me that my disease was so rare that nobody would touch me with a ten foot pole.”

This workshop would not be the time or place to have that quip conversation.  After his talk the organizer of the event made a beeline towards me with the asshole in tow. There was nowhere for me to go. I was not going to let this be the moment that we shook hands and I played dumb to have ever talking to him before.  Fortunately the organizer and I were on good terms. I turned to the young man who was all smiles, his hand out, waiting to be introduced and I said: “I’m sorry can we touch base soon, I need to talk to X privately.”

Then I ran off with the baffled organizer, leaving Mr. two-faced standing there alone, with his hands in his pockets. I felt like a stupid teenager when I told the organizer that I couldn’t let this be the moment that I met this guy in person. She understood and the introduction didn’t happen. A few months later I ran into the organizer at another conference, before I could say hi she jumped up and asked if she could hug me.

Turning my back on him was all that I needed. Leaving him standing there without even bothering to shake his hand after giving his ‘big’ talk.  His smile was replaced with shock, his shoulders slumped forward and hands in his pockets. A kicked puppy dog. I’m all good now.

BTW I’m on Amtrak a 4hour ride to Boston. So you can kick back, we’re both in for a long ride.

Does it make you feel good to do something for someone else that costs you nothing but means a whole lot to another person?

Do you expect something in return for your good deed?

On the train sitting in the cafe car, bad decision but wanted the work space. The employees on the train come sit here after they take tickets. Might as well be sitting in an employee lounge. I’m absolutely appalled by what these guys are saying about customers in front of customers.

A passenger brings a purse to one of the ticket takers. Ticket taker rifles through the bag to find the customers name. She makes an announcement to come forward. In the mean time the 5 of them start talking about lost items that they were in custody of and the effort that they put into finding the owner. One guy discussed a purse that had concert tickets in it to a band that he loved, the concert was for that weekend. He called the women all week, praying she wouldn’t answer. She called back on the day of the concert and ran down to the station for her bag. Another employee said he had been passed a laptop by another customer the employee called the owner and she came to claim it immediately, he lamented that she didn’t even leave a tip, she showed up with donuts. His response was: “Hey guys I hope you enjoy those donuts on me.”

I recently left my backpack on Amtrak. At customer service the representatives were very snotty. Telling me it wasn’t their responsibility to keep track of passengers items, that I needed to do a better job. There was nothing of value in my backpack, business cards and a conference folder. My name and # on it. I told them exactly which car it was in and my seat #. Nope no backpack….

Why don’t people want to do things for others? Why is it so hard to be pleasant and say I’m sorry, how can I help?

In high school I worked as a maid in a hotel. I cleaned toilets and made beds. I found items left behind all the time, I turned them in without a second thought. On two such occasions I found expensive jewelry. One was a diamond tennis bracelet, I gave it to the office. Hotel management got the bracelet back to the owner. The owner of the bracelet sent me a handwritten note, thanking me profusely, she was so happy to have it back. She admitted to assuming that a housekeeper would have kept it. Second piece of jewelry was a huge ruby ring, it was under the bed. I picked it up and put it on the night stand. The next morning, the owner chased me down in the hallway. She said she looked and looked for the ring. She too admitted to me that she thought I must have taken it. She handed me a $100.00 bill. On both occasions I was shocked that they were both so surprised that I or someone else would return their items. I found an engagement ring on the sidewalk at my university. I left a note at lost and found for someone to call and describe it to me. I got several wrong calls and one correct call. I met the owner at school and she cried, it was her mothers engagement ring, her mom had just passed away and her dad gave her the ring. The ring was too big for her but she wore it anyways. She just sobbed and hugged me. I felt awesome for getting it back to her.

Why am I discussing lost and found…
I’m attempting to make a tie in. Tell me… Isn’t it human nature to want to help others?

In 2010 I started asking around about a patient registry. I received mixed and ambiguous answers from our parent MPS society organizations. I talked to everyone and found out there was no global patient registry for Sanfilippo. The general consensus was that each country kept their own files. Nobody was in a rush to coordinate a global group registry. The UK had the largest registry that contained more then just intake information. But it wasn’t formatted to be very user friendly.

I searched for patient registry vendors, they charged more then JJB could ever afford and HANDS was focused on sending every last penny raised to research. So JJB tabled it. A few years later a registry vendor came along and offered sponsorships for a handful of registries for rare disease organizations.

JJB applied and won. It started as a basic intake registry for Sanfilippo Syndrome C and D. We could grow it with add-ons when we had funding. But this was a start. The registry has since grown to cover all the MPS, ML and Glycoprotein syndromes. Ben's Dream wanted to cover all Sanfilippo's, the National MPS society wanted ALL of the MPS plus ML, ISMRD wanted glycoprotein deficiencies added.

Once working with a registry vendor, Patient Crossroads then Alta Voice now Invitae. I saw the potential of what a robust registry could mean to science, to the patients, and treatments. It’s really very exciting and I’m anxious to to implement a couple of burning questionnaires. So far pharma has sponsored three different questionnaires, they also paid to have our registry translated to five different languages and it’s capabilities upgraded.

Typically Pharma sends out questionnaires through the doctors that they work with. The doctor then contacts the families. Or the pharmaceutical companies may have portals on their websites where families login and update. When this happens the data almost never gets published. Some families are asked by numerous companies to fill out similar questionnaires. These questionnaires can take hours to fill out, we have to go and pull up our kids medical records to answer them. This is not efficient, it’s a burden on the families and it’s a waste of precious data that could be used over and over again by academics.

ConnectMPS houses the data, it’s HIPPA and GDPR approved. It’s de-identified of course and if you never want to be contacted by anyone you just say no.

Our diseases are so incredibly rare that very few papers are written about the disease symptoms. When a physician diagnosis a patient and it’s the only case they have ever seen  they turn to the literature to help describe the disease and the progression to the families. The papers can be very misleading to our families, as our kids don’t all follow the same progression or timelines. For instance, based off of the published papers on Sanfilippo, Jeremy and I were under the impression that Jonah would never learn to talk in complete sentences or use the bathroom on his own. Doctors often send patients to the MPS society, many families find the private MPS FB pages. It’s here that we get most of our advice. But it’s not compiled or vetted by experts.

I want to see papers written on every single symptom with a large pool of patients that are culturally diverse. There is a large range of differences between a child from the Middle East to a child from Western Europe, this needs to be accounted for. Where are academics going to be able to gain access to well rounded data? Pharma doesn’t share it, registries held by International MPS organizations are not much more then a spreadsheet and not HIPPA or GDPR approved.

Lots of people don’t like to shop online or bank online because they’re scared of identity theft etc. I get this question all the time. “Is it safe.” To which I respond: “It’s as safe as safe can be.”
Which doesn’t go over well. Seriously… If you’re terrified of identity theft and you’ll loose sleep at night over the registry. Then don’t register.

I ask those that question my motives…
Is it so hard to believe that someone would want to do right by those in the same horrific position?

Sadly, my innate need to help others has been questioned. Pharma and families are asking: “What’s in it for Jill, why would she do something for the community for free.”

Here is my ulterior motive:  knowledge, treatments and drug approval. 

ConnectMP is priceless. It’s worth more then any financial compensation could ever be. So let me dispel any rumors:

No, Invitae nor does pharma pay me, I do not make a salary to promote the registry.

Secondly, JJB does not own the data, it is owned by Invitae and open to our academics, pharma and patient organizations to utilize. They have to apply and be approved to have access to data.

Yes, fee’s are involved to mine and correlate the data and to make sure everything is HIPPA approved. etc Obviously, Invitae has to be paid for their services.  JJB isn’t paying for it.

I’d like to end this blog on a positive note and thank Kevin’s family for the beautiful donation of Kevin’s organs to science. This is the very first organ and tissue donation for MPSIII C given to science. Kevin’s contribution will live on forever. The difference between studying the disease affects on a human opposed to a mouse will give us insight into the disease that we never had before. Thank you Kevin and Chanel.

Having fun only on the run

Fun on the run.
It has not been fun at home, more so when we’re on the run.

Two babies were slaughtered in my neighborhood’s prime intersection. I say slaughtered without flinching. They were run down by a women that had no business driving. I think all of you can imagine the horror of something like this hitting your community. As a mother that strolled through this intersection almost on a daily basis with fellow mom’s. We call ourselves the Park Slope stroller brigade.

Jonah and I took off to Portugal a few days later. I came home to the news that my sorority sister passed, Krista fought a champions fight against cancer. Out of all my sorority sisters and there were a few hundred, Krista had the purest soul.  I doubt any one of my sisters would challenge me on that.  Krista always had a smile and a hug for you and a word of advice. I hadn’t seen her since college graduation, when we reunited, it was at JJB’s first fundraiser in OR and she came to everyone since.

A few days later my friend Jennifer and Tracy’s daughter Laine passed away from Batten disease, she followed her older brother Noah. For Krista and Laine we knew the end was getting closer, I had a chance to brace myself. A week after Jonah and I got home from Portugal I turned around and went to Chicago for Laine’s services. Logistically it was impossible for me to get out to OR for Krista’s services.

My need to be at Laine’s services was strong. The VanHoutan’s have always been there for me as a sounding board and support. Our diseases both fall under the same umbrella of Lysosomal Storage Diseases. Tracy is at all of our overlapping conferences. I thought about Jonah passing and who I’d like to have at Jonah’s services. I love my family, but it would mean a great deal to me to see the faces of parents that traveled the path before me. You don’t know that bond until you’re in it. Perversely I wanted to see what the ‘after’ was like. How were the VanHoutan’s coping? Maybe it would give me an idea of how I’d cope. I just don’t want to fall apart.

I came home and started prepping for our trip to SanFrancisco. A few days before I left, tragedy struck our neighborhood again. I woke to find an email in my in box from our friend Zipi. I assumed it was the new Spring schedule for the art classes that she teaches. I had to read the email over and over again. Disbelief, I thought it must be some kind of spam. There was no explanation as to how Zipi’s amazing and healthy husband passed. Just when and where his services would be. I saw Muli and Zippi and their two little girls almost daily. They live down the avenue from me, we walked to school together. Zippi was Jonah’s art teacher, Zippi held a fundraiser for JJB, and the whole family always came to JJB’s fundraisers and even volunteered for set-up and breakdown. Muli was the best dad any child could ever have.

Muli and Zippi were prepping their daughters to walk to school by themselves. They do that in my neighborhood. It’s so busy and the drivers don’t pay attention. Kids hopping in and out of moving cars; middle schoolers causing chaos on the sidewalk. Nervous parents follow their kids at a safe distance, pretending to not be watching, but studying every step they take, how they look back and forth and the speed in which they cross the street. Muli was doing this the weekend before he passed. I saw him across the street smiling at his girls, who were waiting to cross. I strolled up next to the sisters they were anxiously waiting and possibly rolling their eyes. I asked them if we could go and they looked at me their eyes said: “Uh duh YES” too polite to say what they were thinking.

I smiled at Muli and he shrugged and smiled back. We both knew how scary this right of passage was, even more so after the deadly crossing down the road from us. Muli had an unexplained medical mental episode. It came out of nowhere. Out of respect to the family and his little girls... It's not my story to tell. https://www.gofundme.com/7unsed-support-the-green-family

Three Mom’s were walking along 5th Ave. with kids in-tow, they came to the 9th st intersection and crossed when the light turned. One Mother was pregnant and holding the hand of her young daughter, the second mother was pushing her little boy along in his stroller. Her youngest was at home. The third Mom, my friend Christy had just made it across the street with her son Ace. The three Mom’s were walking home from prayer group.  Christy turned to wave goodbye to her friends. A driver stopped at the light, paused and then pushed the gas, she pushed harder. She hit 5 people (an older man as well) she killed the little girl instantly and she drug the little boy in his stroller down the street a block, killing him. The mothers laid in the street, seriously injured screaming: "I want to see my baby” “Just show me my baby.”

Christy stood in horror then fell to her knees. Looking into the eyes of her friends dead son. The driver had MS. She had 12 citations over the coarse of two years, three for running red lights and three for speeding in a school zone. Christy testified at the grand jury a few weeks ago. The driver lost her license and was arrested. She has posted bail and is awaiting trial.  A physician that had seen the driver two weeks prior to the incident, also testified. The driver had called 911 to her home for medical reasons. The attending physician testified that he told her that she should stop driving. NY state does not have the state law that requires doctors to call the DMV when they think a person is no longer physically capable of driving due to a medical condition.

What is going on in my brain: depression, insecurity and sorrow. Anybody’s life could change forever in a moment. Thinking about all these deaths, deaths that are for normal people other people, not my new normal life. The deaths sent me to a bad place. I questioned... what the fuck am I doing with my life? Why am I spending every free moment working my butt off for a treatment that may not come in time for Jonah? I hate what I do for a living (fyi I don’t get paid) the pay off is a treatment so no parent has to endure those words: “Your child has a terminal illness for which there is no treatment."

But why am I the person taking the lead for a treatment? Why can't someone else do it? I just want to be a mom and hang out with Jonah and his dad. 

I look at Jonah, he’s doing great, all things considered. I think about how much more he could be if I spent more time with him. He can virtually read, his adding is pretty good. His behavior has worsened, but I’m hoping that’s temporary, his dad is home on hiatus and we have been traveling a lot. So I’m thinking that when things get back on schedule he’ll mellow out.

I took Jonah to Portugal with me. Raquel rented us an awesome house and two neighboring flats. We try to do an annual type C patient population meeting, we set them up around conferences so we can meet with our scientists as well. This year was our largest meeting thus far, we had 4 French families, 1 UK, 1 USA, 1 Portugal, 1 Finland and 1 from Spain. There were 7 MPS IIIC children in the house. For several of the families it was the first time ever seeing another type C child. The kids ranged in severity, but all could still walk and talk. The 4 year old picked up an ottoman and chucked it at me. So they were pretty mobile. Brian Bigger came over to the house and sat at the round table to present to the families our science. I brought Elvis with me, our resident French translator.  The whole experience was incredible.  Brian hung out with us for several hours, from a scientists perspective and a father himself, I think he was genuinely moved. A few weeks beforehand Phoenix Nest (my virtual biotech) and Manchester, Brian’s university, FINALLY agreed on the terms of our license agreement. Brian passed me off the hard drive with all the data that he and his lab had acquired over the last 7 years. This was a pivotal moment. I’m very glad that the passing of the license physically happened in the presence of the H.A.N.D.S. We did it.

Back at home, for a two week turnaround before my trip to a rare disease drug conference in Maryland, WODC. The WODC was very productive place to meet people an otherwise lame conference. I made the contacts that I wanted to make. Stalking people that would otherwise have been very hard to make contact with. Stalking people is my specialty.

Home again, head spinning and fingers typing, touching base with those that I met at WODC. Muli dies, everything stops for reflection. I went to his services then the next day flew to SanFrancisco for a BioMarin, media workshop for advocates. BioMarin had a pre-function where they gave us a ‘love lock’ to place on their campus sculpture.

Today is MPS awareness day, I hung the other lock on the overpass that Jonah and I walk by everyday. While in SF we met up with Jeremy’s little brother Josh, we discussed social media and the different platforms that JJB uses. Josh said that he liked my blog the best. Which I don’t consider a social media platform for JJB, this is just me. I created the blog for my family, Josh and the rest of our immediate family, so that they know what we’re up to. After years of blogging we have thousands of followers. I don’t know who all these people are, but I do know that many are in the pharma industry and many are other Sanfilippo families.
https://youtu.be/eiBVkVcrihU
 
There is a line that has just been drawn in the sand.

As the founder of a non-profit and good friends with numerous families and the founder of a biotech that intends to bring a treatment to trial for these families. I’m supposed to pick a side: MPS III parent or MPS III pharmaceutical CFO creating a treatment for our kids.

My goal is to get JJB to a stable financial place, where Mari’s salary is funded and she has employees and an office to run JJB from.  No more working from my kitchen table at soccer practice or a local bar stool. JJB will focus our attention on our awareness campaign: Mission Hide and Help and our patient registry ConnectMPS. The MPS IIIC and D NHS  (Natural History Study) sponsored by JJB will need substantial funding to cover the out of pocket medical expenses and travel for families.  Legislative bills that support rare disease research are of paramount. 

I will still be a part of JJB and help with fundraising and guidance but I can’t wear both hats to the extent that I have been. I won’t be blogging about the nuances of the research anymore. My blogs will be more like this.  Everything is under CDA’s and NDA’s and I can’t share anything about a trial. The line that keeps running through my head: "This shit just got real."

Supporters we still need you in a major way! JJB needs continued funding in full force and your participation with Mission Hide and Help. https://missionhideandhelp.org/

You can help right now, my birthday is coming up in a couple of weeks, and just like last year, I do not want gifts for me.  Instead I need items for our next charity fundraiser. Everything on my wish list will go toward our raffle prizes at this years "Hansel & Gretel" themed Halloween party, mark your calendar for Oct 28th, Shape Shifter Lab. Last year our Amazon Smile JJB Event Wish was a huge success, it made the event and my B.day worth while. You have no idea how much stress this alleviated from my life.

You can get us started now.

https://www.amazon.com/hz/wishlist/ls/3MR2XEXXAI90J?&sort=default

Zipi Green and I at 'Light's of DNA' a fundraiser hosted by Zipi's art studio.

 https://www.gofundme.com/7unsed-support-the-green-family

Noah's Hope and Jonah's Just Begun. http://www.noahshope.com/ https://youtu.be/eiBVkVcrihU

Krista in the middle. We love you girl and will never forget the love that you brought to all of us.

Sanfilippo Portugal, JJB, Sanfilippo Sud and Sanfilippo Barcelona- Holding the little black box. The recipe to a treatment for our kids.

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.