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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.

Tuesday, May 15, 2018

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.

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.
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.

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 worth while. You have no idea how much stress this alleviated from my life.

You can get us started now.

Zipi Green and I at 'Light's of DNA' a fundraiser hosted by Zipi's art studio.
Noah's Hope and Jonah's Just Begun.

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.

Sunday, February 25, 2018

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.

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. 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.  

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.


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.

Saturday, December 16, 2017

Where were you in the 4th grade? #CUREmps #MHH #skippingSCHOOL

4th grade.

We skipped school yesterday.

After Jeremy went off to work, Jonah climbed into our bed. An hour later Jonah woke up and asked: “Is it good morning yet?”

I looked out the window, it was raining wet snow. It looked cold and uninviting. Jonah said: “Mom I’m not going to school today right?”

Jonah asks both these things every morning and in this same order and same sentence structure. Most of us would say is it morning yet? Jonah thinks it’s said: is it good-morning yet? It’s something Jeremy and I let go of trying to correct.

I turned and looked at him, trying to make up my mind. Our room was so warm and cozy, outside was not. I impulsively jumped back into bed and pulled up the covers. “Nope today you’re absent.”

I knew exactly what he’d say: “Good, I can watch then?”
Lunging for the remote as if I had a say in the matter.

When I pick Jonah up from school he tells me exactly who was absent that day. He has done this everyday since Kindergarten. I’m always shocked by how many kids are absent. There are only 12 students in his class and according to Jonah at least one is missing almost everyday.  On the day that all the kids are at school Jonah proudly announces at pickup: “Mom Mom all the kids were in class today.”

We stayed under the covers for hours. He watched Paw Patrol and I read Politico. There are days when I just don’t want to leave Jonah’s side. We ate breakfast in bed and stayed there until around noon when I finally pulled the plug. I had started thinking about making Christmas cookies.

Jonah loves to work in the kitchen especially if it’s for cookie making. For the most part it’s overwhelming to have him in the kitchen: knives, popping grease, boiling water and hustling. When I’m mentally prepared for a cooking date with Jonah, the time spent it’s delightful. We made ice box cookie dough, his dad can do the other half with him. Jonah loves to eat the cookie dough and I feel obligated to let him do it.  My mom would give Jennifer and I each a beater to eat off of, we sat at the kitchen table and relished every morsel. Once we ate off the big chunks we’d proceed to lick every crevice of the aluminum blades until it was spit sparkling clean. I want Jonah to have those same type of sweet memories. 

We spent the afternoon looking at Pokemon cards, reading books and playing board games. Then it was time to get some homework done. I look at him and wonder what is going on in his brain? Is it really this hard for him or is he just pushing my buttons? I think back to math homework how hard it was for me. I was so frustrated with my brain, I just couldn’t find the solutions. Does Jonah feel like this? I don’t know because he can’t articulate how he’s feeling. Writing sentences and trying to spell the words is the hardest for him. He can read a sentence and say a sentence but he can’t write it on his own. I try to engage him and coax him to think of a sentence. I usually end up writing my sentence down on the dry erase board. Then I hold it up and read the sentence. I attempt to make the sentence as simple as I can, so he can find victory in writing a couple of words on his own. I put the board down so he can’t just copy it, forcing him to think about the word and then write the word. He tells me all the time: “I just can’t do it Mom, I can’t I can’t I can’t.”

I feel like I’m torturing him. I know how this felt. The difference is I was going to college someday and I needed to learn it. In Jonah’s case… Well you know, I don’t have to put it in words.  Something inside me is telling me to no’t let it go, to keep trying and not give up on him.

Last night and all this morning I thought about my personal 4th grade experience. I was reading chapter books non-stop, introduced to Judy Bloom and Beverly Cleary.  I checked out every single book the library had from these two authors. My teacher had a book reading star chart for the class, I always had the most stars in the class. I loved to read, now the only thing I get to read are medical research papers and legal documents. Ladies do you remember: Are you there God? It’s me, Margaret? One line sticks with me: We must we must we must increase our bust. The bigger the better the more the boys will depend on us.

Are you there God? It’s me, Margaret. Is a critically acclaimed book, sadly this is all I remember of the story. If this is every girls take away, then know wonder we haven’t had a women president and men like Trump are ‘running’ the show.

It was in the 4th grade that I started to loose some of that childhood innocence. Two new kids came to our school district and into my class. We didn’t get many new comers in our town. I’m going to tell a story about the new girl and new boy, I’ll change the girls name. I’m going to call her Nasty Nancy, which is very close to what I actually called her in my mind.

We didn’t use the word bully back then, but by all measure the new girl was most certainly a bully. It’s as though being a bully came naturally to her, I figure it was just her personality. I have know idea where she is today.  We’re not friends on FB and  thankfully she moved again before 7th grade.

At the very beginning of the school year she cunningly asked me for my locker number. Thinking nothing of it I give it to her. Only my stinky gym shoes were in there, I was only 9, who thinks like a criminal at 9? Nasty Nancy did.

From thence forth, on gym days, she cut up our hallway class walking line until she was first. Once there she sprinted to my locker and opened it. Snagging my gym shoes, putting them on and wearing them as if they were hers. At first I thought it was some kind of joke. The gym teacher made her give them back. What was it with the 80’s why were people so obsessed with Nikes? That is a joke. She liked them for my rainbow shoe laces.

I’d fight her off at the locker. She elbowed me, pushed me away hard and spit at me. I was now scared of her, this was not normal behavior. I got her in trouble, I was a school teachers daughter and pulled rank at school. Nasty Nancy was a minister’s daughter, the irony.  They assigned a junior high girl to watch over us in the locker room. Nast Nancy moved on.

Nancy was in my Blue Bird troop too, not only did I have to spend the day with her, but my weekends too. Insult to injury, but it did give me the opportunity to see some of her home life. Her parents appeared to be good people, her house was nice and clean. My 9 year old self wasn’t able to deduce what made her tick.

Marlo was the other new kid.  I’ll use his real name, he’s my friend and won’t mind. Marlo is black, besides his older brother he was the only black kid in our school. I could never hide his identity nor would I want to. Marlo wether he wanted to be so or not; was a game changer for the class of 91. Probably even for our whole town. lol

In class Marlo sat to the left of Nasty Nancy and I sat on the right. On this particular day, Nasty Nancy got up from her seat to talk to the teacher. Marlo turned and smiled at me, getting my attention. He walked to the pencil sharpener and got his pencil nice and sharp. I knew what he was going to do before he did it and I giggled. He walked back to his seat, as Nancy walked back to hers, Marlo leaned over and held the pencil under her butt. She sat down, the pencil disappeared. It was not the funny scenario that Marlo and I had envisioned. You know like the scene we saw in cartoons; a little ouch then springing up in the air. The pencil literally went up her butt. Our eyes bugged out in shock. Nancy started screaming and crying. This is a memory marked in my mind forever.

I often wonder what it’s like in Jonah’s 4th grade class. What if someone at school relentlessly bullied Jonah? Stealing his shoes and making him chase them around the locker room, no adult in sight. Jonah is nine but he’s as innocent as a four year old. He could easily be made fun or ridiculed or taken advantage of. Two things reassure me that he’s ok at school. Jonah is an excellent judge of character, he might not understand what the bully is saying but he does understand the intention and he will react accordingly. Secondly he has a 1 to 1 assistant.

There was another major event in my 4th grade class. One of my classmates drowned.

At the moment Jonah is obsessed with having one of the neighborhood boys come and play with him. I really like the kid and his family, but this boy is lightyears above Jonah. At these type of playdates Jeremy or I end up playing with Jonah’s guest, because Jonah just isn’t up to their speed. It’s hard on me to hear the social interaction, Jonah just doesn’t get it.  I’m not sad because Jonah isn’t like them. I’m sad because I know that Jonah will someday start to decline and the opportunity for these playdates will end. This is what I struggle with the most these days. How much of his life am I missing by working my ass off to save his life?

It has been a really hard year. People don’t know what their financial picture will look like at the end of the year or in the years to come. I didn’t foresee how hard it would be to fundraise in this current climate. We raised half of what we have raised in the previous years. I swallowed my pride and asked someone to donate a hefty sum, fortunately that person did. The check has bought us some time. 

This year Mari and I have been wrapped up in and focused on our awareness campaigns. This coming year JJB will have to think hard on our priorities. We spent a lot of our time and resources building the MPS patient registry. Which I don’t regret our time spent has paid off, our registry is over a 1,000 registrants strong now we have two drug companies using it to put out surveys. I’m committed to Mission Hide and Help and getting that program up off the ground. This year our Natural History Study will most likely rule my world. Realistically I only have time for one additional JJB project, leaving Mari to do everything else on her own. Phoenix Nest needs attention too. PN has three ongoing NIH grants in the works and we’re pursuing the next steps for clinical trial, which is no small feat. Something will have to change in order for us to continue at this pace.

I leave myself with this post that my Aunt Melissa wrote. The highlighted portion is what keeps me from quitting. To see the picture that Melissa is talking about go here.

Let me tell you a little about the photo I choose for this fundraiser.  This is a spot on the South Yamhill River in Oregon where I grew up. This is the spot that makes me think of my family, and how much I love them.  It was here that Jill and I and several of my nieces floated on tubes this summer, and talked about the reality of what Jonah faces and the research that is being done to find a cure.

You see for many years we were able to live blissfully unaware of ultra-rare diseases.  Life moved along, kids grew up, and all was well.  I'll come back to this last sentence.

Jill went to college, traveled, and ended up in New York where she met, fell in love and married Jeremy.  As these two began their lives together and started a family, they had no idea that they both carried a mutated gene that would change their lives forever.

It was when an astute pediatrician informed Jill and Jeremy that Jonah had something that indicated he needed further testing that they began this journey, learning about Sanfillipo type C.  It is at this point where I want to think about a day sometime in the future.  A pediatrician should be able to tell this family that this is a treatable disease.  Kids like Jonah should be in the category of  "Life moved along, kids grew up, and all was well"

This is where I need your help.  Jill and Jeremy have worked tirelessly to bring together kids like Jonah, scientists, funds in order to understand this disease, and how to treat it.  Every step brings hope for kids in the future.  Kids in families who don't even know they are going to need this cure.
Today in this season of family, love, and giving, I'm asking my friends and family, people that I love, and who love me to contribute to saving someones life.  Someone I don't know and someone they don't know, yet.  

Thank you in advance for your generosity.
Jill's Aunt Melissa

Santa noticed Jonah's hat and was inspired to show Jonah his Pokedex.

Wednesday, December 6, 2017

Your DEADLINE is December 10th. #CUREmps #MHH

Your deadline is December 10th. Almost all of us need deadlines to stay on task and accomplish our goals. I know I do and then I need several reminders on top of a deadline.

You know who DOESN’T need a deadline? Jonah doesn’t need a deadline neither does: Maddie, Pol, Johanna, Elouane, Laura, Levi, Jillian, Lyndsey, Kelsey, Jules, Jared, Charlotte, Kevin, Zack, Bethany, Aimee, Bernardo, Vilho, Veera, Eyra, Hatiam, Khola, Abdullah. Yet all these children were given a prognosis at diagnosis, maybe they might live to their early 20’s but most likely they will succumb in their teens.

Anyone of these Sanfilippo children could die in their sleep tonight for no apparent reason. They could catch pneumonia tomorrow and pass by Christmas. I’m not being mellow dramatic, this is the honest truth.

Can you #Do Something?

My ask is that you join our team, follow the instructions on the link. I ask that you join the team, because this is much like a pyramid scheme, the larger our reach the more money we raise. However, you can always just donate, I will not hold that against you.

JJB’s online holiday fundraiser #DO Something is hosted by Crowdrise and sponsored by Newmans Own. There are numerous cash prizes given out each week and a grand prize of $500,000.00.

I’m suggesting a December 10th deadline because JJB will be pushing TWO of the weekly crowdrise contests starting on:
-December 12th-December 19th.
    The organization to raise the most funds this week will win $10,000
    Second place winner will win $5,000.00
-December 31st
    The Organization that raises the most funds on the 31st wins $10,000
    The Organization that gets the most donations from UNIQUE donors today wins $10,000

We will need you to be ready to push the campaign out to all your contacts on social media by the 12th.

Jonah and Laura, France


Jonah and Juels, France

Pol and Johanna, Barcelona

Jonah and Kelsey

Elouane, Jonah and Laura, France

Pol (Barcelona) and Elouane (France)

Jonah and Ryan Dant


& MPSIII C kids all in one backyard, 30 known in U.S.

Jonah and Hatiam


A few weeks ago I attended a workshop in California geared towards biotech startup entrepreneurs, It was hosted by Ultragenyx and organized by Springboard. Springboard is a non-profit organization with sites around the world, they advise women entrepreneurs in every type of business sector. Ultragenyx is a biotech company founded by a scientist/physician, Emil Kakkis. As a young postdoc Dr. Kakkis’s research for the treatment of MPSI (JJB focuses on MPSIII) was supported by the family foundation Ryan’s Foundation for Rare Disease Research.

I'm assuming that you already have CNN open in your browser or the news is on in the background. Please put the Trump drama aside for ten minutes and Do Something else. Trump will still be our president tomorrow so you can catch up on the drama later.

I want you to read this story.

My point in having you read this is to remind you that we can create a treatment, we can save Jonah and his friends.

The workshop had experts in the biotech sector that coached the delegates on numerous topics. It was a really great experience and I learned a lot more on the hurdles that we will still need to get through to get a drug passed by the FDA and commercialized. Sadly I was also reminded by the VC’s that MPSIII C will be a major challenge is that we're ultra-rare. I will need to work ten times as hard then even a rare disease to convince an investor to partner with us. I ask myself how am I supposed to do this? I manage two companies and I only have one employee. I’m stretched as thin as I can be. I need more money and lots of it.

The conference delegates were half parents driving the science for their ultra-rare disease and the other half were scientists with a drug candidate that they needed funding for. I didn’t know until the first day of the conference that I was the inspiration for the workshop. One of the BOD of Springboard and employee of Ultragenyx saw me speak at an event. She was moved by my story and wanted to help in someway. She leveraged her connections to make the workshop happen. It’s people like her that make up for what I lack in donations. Pro-bono services from lawyers, grant writers, PR peeps and advisors that have gotten me this far. My lawyer at King and Spalding refused to even tell me how much she charges an hour. I can assume that my bill would have been over $100,000 by now. Sean’s pro-bono grant writing skills have raised Phoenix Nest over two million. What Sean does for our community is priceless. We need more people that have special skills to help parents like myself. I feel guilty that I’m hogging them all. But really should it even be me that has to do all this work? Everyday I want to quit and just hang out with Jonah and my family.

At the workshop it was mentioned by several of the professionals that it takes a certain personality to accomplish what we have. I get annoyed by that, mostly because I know it’s true and I don’t want it to be true. There was a dad in attendance that lost his child at five years old to a horrific syndrome, he has two healthy babies at home. But here he was, out there pitching and working on a treatment. I greatly admired his dedication.

A huge thanks to those that use their special talents and expertise to help people like me and that dad. A huge thanks to those that help by donating.

My patent lawyer is calling in a few. She’s in Denmark with a paying client, yet is taking 30min out of her day to help me. Speaking of which yesterday another pro-bono consultant took the time while on her vacation in Argentina to brainstorm with me on an idea I have, I want to revisit Sanfilippo endpoints for clinical trial. How can we change the status quo of FDA expectations and what measures can we use... Oh yeah then there's Sean who is on his way to Holland, yet yesterday he took the initiative to sign me up for a competition pitch talk.  If I’m chosen as the winner they’ll give Phoenix Nest $10,000, Sean wrote my business plan for me and registered me. Then emailed me to mention what he’d done and that I now needed to create a 2 minute video about my company. Did I even agree to this? Whatever, I just cheered myself up thinking about how awesome these people are. Just remembered one more thing… Mari and I had a conference call with a man who specializes in reaching specific markets for his clients. He spent an hour on the phone with us giving us tips and advice that I had no idea even existed on how to market our commercial: Mission Hide and Help.  Please watch, participate and share. 

This weekend one of my cousins stopped by for dinner, she's from out of town. Andrea asked me: "So what does your Monday look like?"  "I know you have these two companies and you're super busy, but what does your day look like?"
To answer your question Andrea.. This is what I did on Tuesday, I can't discuss what I did on Monday NDA required. lol
Family, our Aunt Melissa and Grandmother made that quilt.

Wow I feel so much better. Now if I can only inspire some of you folks to either create a team and promote it on your FB pages, Linkden, Twitter etc. or simply make a donation. Here is the link again. #Do Something

Wednesday, November 29, 2017

Every single time man.....#CUREmps

Every Single time you DONATE.  Gotcha....

 What did you think I was going to say?

Perhaps, something like... every single time I go to the post office I feel like I'm on candid camera and Beyonce is going to come out from behind the counter with her twins and say: "You've just been punk'd."

That would be funny, but no the postal people at my local office are always sadistic.

I actually don't have time to chit chat and catch you up on life.  I wish I did.  Today I need you to join our team aptly named #Do Something
You can join our team on one condition- you must participate. You might suck at it, that's ok, as long as you tried.
To get started here is a Facebook banner that you can download and upload to you FB profile.
Oh man.... So I took the TV away, I must go and confront the consequences. That is play with my child who is singing on top of his lungs and marching around me: "Uh hunting we will go."
Not kidding.

Wednesday, October 11, 2017

Mia had MPSIIIC, not autism #CUREmps

In an effort to raise awareness for Sanfilippo Syndrome, I have asked other parents to write their diagnosic odyssey.  Myself and the entire Sanfilippo community believes that there are many many more children out there that are living under the wrong diagnosis, many times Autism, the catch all for cognitive delay.  My obsession with getting these children diagnosed early is twofold. First off an early diagnosis helps families receive services faster and palliative care can be instrumental. Secondly, bug pharma is reluctant to develop treatments for Sanfilippo because our patient population is small and therefore not a money maker.  

JJB hopes that Mission: Hide and Help, will bring more patients forward. Thanks ahead of time for sharing!

-Mia's story-
Mia didn't hit her mile-stones after birth, so we kind of knew there was a problem early on.  When she was born, she had respiratory depression and had to be taken to the Intensive Care Nursery for a week.  She just could not get the concept of suck, swallow, breathe down pat.  We were able to get her enrolled in Early Intervention Services and in Easter Seals for speech therapy and she made progress.  At University of Tennessee, she had lots of testing done and was diagnosed with severe mental retardation before age 3.  Her head circumference was in the 98th percentile, but my head circumference was in the 95th percentile, so it seemed an insignificant finding at the time. 

A year later, a neurologist friend of mine wondered why they never did an MRI of Mia's head, so she ordered that and found that Mia had Arnold Chiari Type I Malformation of the brain and a Mega Cisterna Magna. She suggested more testing, so at age 4, we took her to the University of Chicago for further testing. At that time her severe mental retardation diagnosis was reconfirmed and she had a dual diagnosis of PDD-NOS.  We were told that she would never be able to live on her own and given lots of platitudes.  We asked for a referral to a pediatric neurologist because Mia's Primary Care physician was ignoring my reports of seizures.  Only my immediate family witnessed Mia have them and they were confined to the left side of her body.  She was not particularly post ictal for a significant amount of time, so her health care providers gave no credence to our claims that Mia had developed a seizure disorder. 

A few short months after the testing at U of C, we took her to see Dr. Peter Huttenlocher at University of Chicago.  He walked in to the exam room with a medical student and 4 residents and took one look at Mia and told my husband and I that he was sure Mia had a disease called Sanfilippo Syndrome.  At that time, in 1997, there were only a couple labs that did the urine testing for the syndrome, so it took a few weeks to get that set up with instructions on how to ship to University of Illinois, Circle Campus in Chicago.  Months went by and no word.  The specimen was lost. so we started over.  A couple more months went by and we received confirmation that Mia indeed had Sanfilippo Syndrome, Type C. 

I will say that keeping the Autism (PDD-NOS) diagnosis was suggested by Dr. Huttenlocher.  He informed us that Mia would be eligible for many more services with a diagnosis of Autism, and he was correct.
R.I.P. Mia 5-21-93 to 3-24-13