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Wednesday, May 1, 2019

The Final Countdown

Donate to our GoFundMe Campaign The Final Countdown here

People ask me what I’m going to do after Phoenix Nest brings a treatment for MPS IIIC and D to market. What disease will Phoenix Nest work on next? I look at them as if they have two heads. Are your two brains draining into one synaptic black hole?

Pre-IND Pre Investigational New Drug. If you are so inclined to want to develop a new drug and put in on the market you have to ask the FDA for a meeting, then another meeting and another meeting until you can reach an agreement. If the FDA is convinced of your data and path forward they will then allow you to go to clinical trial. The process is rigorous as you can imagine.

We as in Phoenix Nest had our first Pre-IND meeting for MPS IIID on April 23rd (this will be a future anniversary date.) Sri drove over from North Carolina, Dr. Lau (Heather) and I took Amtrak from NY, Dr. Dickson (Patti) flew out from St Louis, Dr. Chao (Tsui-Fen) flew from L.A. and Dr. Glass (Charles) also came in from San Diego. Elsa, who needs no introduction called in. This is THE IIID Dream Team. Patti and Tsui-Fen are the scientists creating the drug. Sri, Dr. Singamsetty, as you know is PN’s newish Associate Director of Translational Science. Elsa is our advisor on all things Sanfilippo. Dr. Lau is the clinician for the ‘hopeful’ trial.  We just welcomed Charles Glass to Phoenix Nest. I hope to get a press release out soon as we’re ecstatic to have Charlie on board! Side note, I refer to doctors by their first name if I ‘work’ with them. Dr. Lau is Jonah’s neurologist, so she remains Dr. Lau.

Standing: Dr. Charlie Glass, Dr. Srikanth Singamsetty, Jill Wood Sitting: Dr. Heather Lau, Dr. Patricia Dickson, and Dr.Tsui-Fen Chao

Sorry not sorry if this is TMI, my blogs are for my Mom and she needs/wants details.

PN is actually proposing to take the ENTIRE US patient population to clinical trial.  I don’t know that this has ever been done before.

Because of our VERY SPECIAL circumstance, 5 patients we asked for FDA guidance early on. I had been warned by everyone and their rare dog that the FDA will rip you apart, go in with thick skin. Nod your head in agreement and don’t speak unless spoken to. Sri had us do a mock meeting the night before, he told us where we should sit and who should speak and when. Sri told us that the FDA would be sitting across from us and each FDA member would represent an area of expertise relevant to our trial.

We arrived an hour early, the FDA told us to be there 45min early. I attempted to make small talk with my MPSIIID Dream Team, they were slow to engage. A group of brilliant, intense, out-spoken scientists were conserving their words. I had never seen the likes of this before; the enormity of what it was that we were doing sank in. The FDA panel had already been seated in the boardroom when we were let in. That was intimidating. What were they doing in there the whole time we waited outside? Were they discussing Game of Thrones?

From my seat I thought the meeting was great, I don’t know why we were so nervous. The FDA was very appreciative and sensitive to our situation. Because we only have 5 patients to treat in the trial, it adds an extra layer of hurdles to navigate for our trial design. The goal is to prove that a drug works. If you had a 1,000 patients in a trial and 100 of them stabilized or get better you’d be in a good position to show the FDA that the drug works and get approval.

With 5 patients what if only one patient shows beneficial clinical change? Or none? The FDA wants to help guide us in finding the best design for our situation which will lead to drug approval. They told us to ‘be creative’ and that we could come back as many times as we wanted to (they don’t offer that to everyone.)

Last year the FDA released a new guidance for situations like ours, I’m pointing this out for rare disease families that read my blog and not for my mom’s benefit. Look up: “Slowly Progressive, Low Prevalence Rare Diseases with Substrate Deposition That Results from Single Enzyme Defects: Providing Evidence of Effectiveness for Replacement or Corrective Therapies Guidance for Industry.”

Wrapping my brain around just how special this trial will be. We’re going to be pioneering how the FDA responds to clinical trials for low prevalence disease. If we can pull this off, our trial will be cited in medical text books.

Jonah’s MRI went really well, despite the fact that we were pushed back 4 hours. Jonah was so chill. I kept thinking is this my kid? He was glued to the TV, even when we changed him into his surgical gown he remained calm. He knew something was up but he didn’t freak out. This is how powerful the draw of television is for him. He was also starving and a little loopy, but he barely complained about being hungry and that boy is always hungry and always pleads for food. I braced myself for when we had to pull him away from the TV, under normal circumstances he’d go nuts. But he didn’t, he made his sad face but let me lead him off to be put under and pushed into the machine. I don’t know what made me more sad. The fact that he didn’t put up a fight or the fact that we did this to him. 
Jonah is a hero, always has been always will be.

I held the gas mask to his face. He started to giggle. Bitter sweet. The doctor told him a joke: “What is Mickey’s favorite kind of vehicle?” A “Minnie Van.”

Jonah laughed a very happy laugh, looked at me, turned and looked at his pillow and fell back. I held the mask on him for a few more seconds, then the anesthesiologist said he’s out and excused me. The procedure took another 2 hours. Besides an MRI of his brain and spine, he had a lumbar tap to check for gag levels, a fibroblast sample taken for Alexey to develop a cell line, and an ultrasound of his digestive organs to look for inflammation.

It was also the best wake-up that Jonah has had, he’s been put under five other times. Sadly, the anesthesia and lumbar tap wiped him out! He could have slept for a week and he barely ate anything.
Ylva, Mom from Sweden, Me, Brian Bigger the scientists, Simon Jones the clinician, Lauri the program coordinator and Mom, Shelly from UK. Visiting our MPS IIIC GT site and making plans.

I said in my previous blog that I couldn’t make it to our MPS IIIC GT (gene therapy) trial kick off meeting in Manchster, UK, which I planned and couldn’t unscheduled. With or without me the meeting had to go on. Jeremy and I had finally received Jonah’s MRI date which coincided with the Manchester meeting. Both meetings were as equally hard to schedule as several doctors of different vocations and locations all had to be in the same place at once. I opted to stay home for Jonah’s procedure and call into the meeting (Yes, Sri got his travel Visa in time to enter a different country.) The meeting happened and it was very productive, each player received their marching orders. On a side note, I don’t think our kids could be in better hands than at Manchester Childrens Hospital, the nurses and support staff at Manchester are perfect. Dr. Jones is lucky…  you’re only as good as your support staff.

We’re now writing our Pre-IND for MPS IIIC GT. The first and possibly only site will be at Manchester, UK  which is not under the jurisdiction of the FDA.  For those that are following what PN does, I’m going this route for a couple of reasons. 1.) PN is a US company; working with the FDA is economically more feasible and we’re just as reasonable as the EMA. I’ll take what the FDA says and present it to the EMA. It should be a wash. 2.) Manchester is where our medical team from surgery to recovery is at. I can’t mess with that. 3.) Most of our patients are in Europe.

May 10th 2010 was the worst day of mine and Jeremy's life. Diagnosis day as I refer to as ground zero. Jeremy and I have put one foot in front of another and somehow got ourselves a potential treatment. But it's been nine very very long years. I just want to go to trial. We're here lets go.  

It's hard on all of our families. I hate that they're sitting there waiting too. I didn't tell Shelly and Ylva that I was coming to the UK until the last minute. But yet they dropped everything to come and meet up with me. We talked about our kids non stop, swapping stories, nodding our heads in agreement, yeah Maddie does that too, so does Jonah. We live for our children. I broke down and setup a GoFundMe campaign, I can't leave these families hanging on anymore, we're here. We must raise $750,000 to get our vector into production. Click here to donate: The Final Countdown

Monday, March 25, 2019

To be brave or not to be brave

BE brave….What does that mean to you? 

I have been sick to my stomach terrified for the last 7 weeks. I’ll get to that later. Don’t worry Jonah is fine.

I went to Kirsten Gillabrand’s kick off presidential rally today, in an attempt to distract myself from my nightmares. Kirsten held her rally underneath the Trump Tower at 60th st and Central Park West. Just for that I had to go, but seriously I did want to hear what she had to say. What better way than to hear it in person. 

I arrived early assuming the place would be mobbed. I was surprised that I was able to walk right up to the front of the stage. Kirsten’s most prevalent running topics are: Gun control, Dreamers, LGBTQ, Sexual assault and Climate. To me these are no-brainers. I wanted to hear her underlying positions. 

A journalist from the Washington something or rather, it wasn’t the Post came up to me for a few questions. I had noticed the journalist making his way in my direction, he stopped and asked a female teenager some questions, she shied away. I looked at her mom, I swear it was Elizabeth Perkins and yes, I had to google her to find out what her name was.  The only movie that my brain could place her face in was the Flinstones Movie. 

The journalist asked me if I was going to vote for Gillabrand? I responded: “probably”.

Press: What does that mean probably?

Me: Well I don’t know yet, we only just got started.

Press: Do you like what Gillabrand stands for?: Gun control, Climate/Environment, Dreamers.

Me: Well of course I do, but who wouldn’t? What I want to know is where she stands on the needs of children with special needs.(I realized later that a lot of people wouldn't agree)

My response was something to that affect. I go into detail after I caught his interest.

You can’t start with: “Hi I’m Jill, my son is dying of an ultra-rare genetic disease, called Sanfilippo Syndrome specifically Sanfilippo Syndrome type C, which is under the umbrella of Mucopolysaccharidosis syndromes, MPS for short. My son, Jonah has MPS IIIC, you see there are 6 different forms of MPS and they all have subtypes, I think there are 20 forms of MPS in total. Jonah has MPSIII a.k.a. Sanfilippo Syndrome type C. MPSIII or more commonly known as Sanfilippo Syndrome which has 4 subtypes, maybe 5: A,B,C,D and sometimes E. I want Gillabrand to support federal funding to the NIH and FDA and support not bash pharmaceutical companies that aspire to create treatments for ultra-rare diseases.”

I’ll lead with: “Hi I’m Jill, my son is mentally impaired and I can’t find a public school that fits our needs.”

The opening speakers for Gillabrand were awesome. I was most impressed by the “dreamers”, both speeches were delivered by young women. They belted their stories of perseverance against all odds over the crowd of people all the way back to the Trump supporters heckling them. I wanted to be like these young women, their strength and drive to win resonated within me. I fed off their words. Gillabrand’s campaign theme is bravery. Be Brave. Brave enough to stand up for what you believe in to stand up for yourself. Or to stand up for those whose voices aren’t being heard.

I fear the worst I fear that Phoenix Nest will lose our NIH grant. This past fall Phoenix Nest won an SBIR (Small Business Innovation Research ) grant from the NIH (National Institute of Health). Among funding research, I was able to rent an office and hire a new employee. For the first time in 10 years I took a salary.  Jeremy’s tv series he had been working on ended. He has been home taking care of Jonah. It has been awesome having him home helping me. With Jeremy home I don’t have to wrap everything up at 2:30 to pick Jonah up from school. I don’t have to work the entire weekend to make-up for the work week. Jeremy absolutely loves being home with Jonah. For a few months our lives completely changed for the better. Jonah thrives on having us both home before bedtime.

I regret not putting more effort into finding a financial partner. I have been weak, it’s heartbreaking to be told time and time again: “Sanfilippo syndrome, especially type C is just too rare to fit into our pipeline.”

I took the easy way out and relied on the grants to float me along. Early February my co-founder, CEO and grant writer gave his resignation. It was hard to see my friend leave. I pushed him to look at an alternative to surviving off of grants. For those of you that have or had to live pay check to pay check you know how hard it is not knowing if you are going to be able to pay the rent at the end of the month. This is how I feel, with the exception that if I don’t pay the rent children will die, one of them being mine.

My CEO was also a primary investigator (PI) on our 5.6million dollar grant. The NIH is not pleased that he resigned and asked to be replaced on the grant. The NIH froze the grant until I find a suitable replacement. The NIH left PN with a small amount of funds, which has gotten us through February and most of March. Jeremy and I have had to make ends meet at the company with our savings.

 The NIH didn’t approve the first two candidates that we suggested and they are still reviewing the third candidate, I have been waiting for a response for three weeks now. I just now received word, that the NIH will have a response for me later this week. I think, well I assume that they will approve our latest candidate, I still can't help but to worry. If they do approve our new PI there will be strings attached. PN will most likely be audited right away and there will probably be more restrictions, demands, and timelines imposed on us. If we fail the audit, they could pull the grant, a little something else to worry about. Jeremy has been picking up work a few days a week and is now looking to go back fulltime. Hope for the best, prepare for the worst.

Our Investigational New Drug (IND) meeting is planned for the 23rd of April. Our research and clinical team will be going to the FDA (Food and Drug Administration) to find out what they think of our plans for clinical trial. With the grant funding, PN hired Srikanth Singamsetty as our Associate Director of Translational Science. Sri’s first priority was to write the Pre-IND for our MPS IIID ERT program, in the Pre-IND we lay out what we want to do in our clinical trial and we ask the FDA direct questions. After we receive the FDA’s feed-back we will address all their comments and then submit our IND package. Upon approval we will be allowed to have the clinical trial. Sri is now writing our IIIC PreIND letter. I have also scheduled a meeting in Manchester, UK with our gene therapy scientists and clinical team at Manchester’s, Children’s Hospital. We will start the planning of our IIIC trial. Unfortunately, I had to cancel my trip, Jonah finally received his MRI date, which is scheduled for the day after I would have arrived back from the UK. I’ll call in by video. Sri is still waiting on his Visa so that he can go in person. Sri isn’t a US citizen, he’s here on a work visa. In the US non-citizens have to apply for a travel Visa to leave the country. This process only takes about a month. Sri’s just trying to help save American lives. No biggie we can wait a month for approval to fly to the UK and back. That’s sarcasm.

What is it to be brave? I don’t feel brave, I’m terrified. Jeremy and I could lose everything. Jonah could die and we could go broke trying to create a treatment for our kids. I answered my question. To me to BE BRAVE is to keep going.

This is what BRAVE looks like. Parents of terminally Ill children, fighting for their child's life

Sunday, November 25, 2018

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: 

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. 

-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.

-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:
-Instagram: You can find that link on your own. Instagram is too hard for me.
CSFF address:
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.

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

Monday, September 24, 2018

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 5th 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. 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.

Wednesday, August 15, 2018

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.

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.


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.

Tuesday, June 26, 2018


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. 

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 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,

Wednesday, June 6, 2018

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.

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.