An open letter to Maggie Baird (Billie Eilish's mom)

 

May 6^th ,2021

#BillieEilish

#MaggieBaird

#SaveConnor

Dear Maggie:

 

I bet you never imagined that you would raise a teenaged mega-star?! Not because it wouldn’t be possible, but because it didn’t matter. We love our children no matter what. I’m the mother to Jonah a special needs child. The term special needs can mean so many different things. For me it’s what I say to new acquaintances when we’re talking about our kids. An attempt to avoid awkward situations by giving the other parent a heads up.

 

I watched the documentary. You don’t often see extraordinary parents just being parents on tv. I stumbled onto your children’s music when googling the release for ‘No Time to Die’. I realize now that I might be the last person on Earth to hear of Billie Eilish.  Your children are profoundly talented, but you stood out as one tremendously gifted mother. It was hard watching the teenager angst, Billie brought back memories of my teenage years that I wasn’t interested in reliving. I turned the documentary off halfway through to give my brain a rest and finished it the next day.  I was especially motivated to see how you and Patrick were going to shoulder the responsibility of your stressful parental job. I just couldn’t imagine.  I’d like to think that if I was in your situation that I’d respond in the same way that you have. A standing ovation to you and Patrick!

 

Our son Jonah was so incredibly wanted; you don’t know how much until they’re actually here. I remember laying him in his bouncy thing in front of the television set. My husband and I took our meals on the couch, tv off, content on just watching Jonah sleep. He was so delicious, I ate, slept, and breathed him. 

 

On Jonah’s first year well visit we took him to see a new pediatrician. Dr. Cao noted that Jonah’s head circumference was not typical, he wanted us to get an MRI to rule out hydrocephaly. I thought it was stupid, Jonah was perfect in every way, he had a big head that’s all. I liked the doctor and knew if we were going to continue to see him that I’d have to follow doctor’s orders. We had three cancelled MRI appointments, over the course of 6months, all for different reasons. I was so annoyed I almost just dropped it. Jeremy convinced me to take Jonah to NYU Langone. During that time, we enjoyed the perfect Norman Rockwell Christmas with Jonah.  

 

Away from NYC snuggled in at my Mom’s cozy home in Oregon. Jonah was 17 months and walking, running actually.  He was non-stop, but that morning, Christmas morning, Jonah was dazed.  He woke at 5:00am and headed downstairs on his own, I jumped up and followed him. When he got to the stairs and looked down, he paused, dumbfounded. He walked slowly down the stairs holding onto the handrail, fixated on the tree as if it was a mirage.

 

My mom always displays a few presents unwrapped and out of their boxes. Jonah made his way towards those. My husband and Mom came down, we turned on the fireplace and made coffee and watched Jonah. The sun was rising, it backlit Jonah, his hair was the color of a peach, he glowed a Christmas morning brilliance. He was wearing a red and white stripped elf pajama onesie. His chubby little toddler hands putting together wooden puzzles. My heart grew twice the size that morning and unlike the Grinch’s it was already big. For this memory I am forever thankful for all the cancelled MRI appointments.

 

It was Spring by the time we finally got Jonah successfully through an MRI appointment. When the neurologist called me in for the results, I had completely forgotten about the MRI. Jeremy randomly had the day off of work, he offered to come with me, I told him to stay home and enjoy the day off, but he insisted. Another, thank god moment…. When we got to her office, there was an intern in the room with our doctor. The intern couldn’t make eye contact with me. You know how you know without knowing that something truly awful is about to happen. That twinge in your side.

 

Our neurologist looked Jonah over from head to toe asking dozens of questions. I was a bit relieved to be answering the questions in Jonah’s favor. She didn’t seem to find anything out of place, maybe I was just a nervous mom. Then she sat down at her desk and looked at me. Jeremy was getting Jonah dressed in the back of the office. She didn’t wait for Jeremy to join us, she started in on her deliverance. The results pointed towards a rare disease called mucopolysaccharidosis (MPS). Stop right there. WTF did you just say? 

 

She just kept plowing through; she explained that there were several versions of MPS, but that she suspected MPS III, also known as Sanfilippo syndrome.  I started to well-up, I turned to look at my husband, who was still oblivious to what the doctor was saying.  Jeremy saw the tears streaming down my face and sat down. The doctor passed us a handful of prescriptions and tissue, it was evident that she had done this before. She explained each RX and why we needed to go. A sleep study, head to toe x-rays, another MRI of the spine, ENT, allergist, EEG, liver and spleen sonogram, GI and cardiologist appointments, but first we needed to go to the geneticist.  She had already made the appointment for us. Lastly, she implored that we not google mucopolysaccharidosis when we got home. Of course, we did not heed her warning.

 

Walking home, Jonah in his stroller, my husband and I were numb, we couldn’t get our words out. I felt like I was walking on the sea floor with cinderblock shoes. We stopped at the wine shop and grabbed a bottle. Made dinner for Jonah and began the bedtime routine. As soon as he was down, we opened the bottle and googled Mucopolysaccharidosis. The results were unbelievable; there just had to be some kind of mistake. We forced ourselves to believe that it was somehow some freak mix-up at the lab.  For the next few weeks, we kept telling each other that it was wrong, it was going to be ok.  Jeremy went back to work, and I took Jonah to the appointments alone. We waited for blood results to come back. When they did, we were called back to the geneticist’s office, we arrived at the elevator at the same time as our geneticist. She looked at us, excused herself and took the stairs.

 

I don’t want to write this anymore. I hate telling my story, I won’t be able to sleep tonight. I wouldn’t mind if you put this letter down and took a mental break. This is a mother’s worst nightmare.

 

Dr. David confirmed the neurologist’s assumptions, Jonah had MPS III aka Sanfilippo syndrome, we still had to find out which subtype Jonah had. From our google search Jeremy and I already knew that Sanfilippo was the only MPS that did not have a treatment and was terminal without one. Death could be as early has 5 or possibly 25, depending on the subtype. So, there it was, we couldn’t deny it anymore. I can’t even begin to tell you how bad this sort of news hurts. I looked at the geneticist through my tears and asked her if this was a death sentence. She took so long to respond I hated myself for asking, but I had to know. She came back and said: “Today there are treatments never thought possibly, just five years ago.”

 

That was all I needed to hear. I hit the ground running!

 

There are 4 subtypes of Sanfilippo: A-D.  A and B being more prevalent and more severe, types C and D are uber-rare, but thought to be less severe, but nobody really knows because it’s so rare. Types A and B both had research that looked to be heading towards clinical trial, so that was a bit comforting.

 

Jeremy and I went home, this time we started making phone calls, first to his brother, a lawyer, we asked him to draw-up the paperwork for a 501-C3. I called my mom and all of our good friends’ and rallied the troops. It was May 15th, 2010, we held our first fundraiser a few months later in Oregon, a wine tasting event. While I begged for money, Jeremy went to London to join an MPS conference. His mission- to seek out the scientist that would create a treatment for Jonah.

 

Jonah’s results came back type C. There were a couple of papers written on type C by a scientist named Alexey Pshezhetsky, from Montreal. I called his lab, he didn’t answer, I left a message. Alexey had discovered the gene that caused Sanfilippo syndrome type C. It was a month before he called me back. He had been on a rock-climbing trip in the Himalayas… who does that?! Anyhow, he apologized profusely in his watered-down Russian accent. “Yay, yay of cause of cause, I’m interested in MPS IIIC, it’s just that nobody asked me to do anything about it, so I haven’t.”

 

Alexey said the first thing I needed was a mouse model. He’d be happy to make us one, he had an idea about using chaperones as a treatment. We raised $40,000 at our wine tasting event.  We met another family that kicked in another $40,000, we gave it all to Alexey’s lab. A year later we hosted our first patient population and scientific workshop in NYC. Which was held at Columbus Children’s hospital and benched by our new Scientific Advisory Board for our new not-for profit, Jonah’s Just Begun (now dissolved).

 

We brought in three scientists from three different countries and the handful of parents that we had assembled. Over two days we listened to our scientists hash out the best path forward for a treatment. We all went home motivated, the parents started fundraising and the scientists’ started interviewing for postdocs.

 

That was 11 years ago almost to the date. We’re coming up on several observable days, my husband and mines anniversary is tomorrow the 6^th, today being Cinco De Mayo, Mother’s Day is in a few days and National MPS awareness day is the 15^th. Nothing planned for our 15^th anniversary, I did see some peonies at the flower stand on my way to the office. I’ll get a bunch and tell my husband that they’re from him, he’ll be relieved.

 

Observable dates, Jonah’s diagnosis date, can’t believe it’s been 11 years already. We had assumed that Jonah would not be walking or talking anymore by now. We assumed wrong! Jonah is fighting his fate, turns out that he has an attenuated form of Sanfilippo. Meanwhile we’re watching children Jonah’s age die from this insidious disease! For the doom and gloom of Sanfilippo, I’ll let you investigate it yourself. https://curesanfilippofoundation.org/

 

Maggie, this is my ask, mom to mom, would you please share a link for me? This is the story of Connor and his family, together we’re fighting to save our kids, saveconnor.com 

 

I think you’re the perfect role model to endorse our cause. Please consider sharing on your Instagram site.

 

I know I don’t have to tell anyone anywhere in the world how awful COVID has been for everyone everywhere. I hope that you can help us keep the momentum of this video campaign hosted on gofundme going. The parents are still working, and our children are also still dying. We have had to get creative with fundraising and work around the COVID limitations.

 

Over the past 11 years I have been slaving over this cause. I created a biotech, Phoenix Nest.  Our gene therapy program is ramping up, we’re almost ready to go to trial.  The only thing that stands between our children and a treatment is funding. I am so sick and tired of begging for funding. Potential pharma partners are averse to funding research for small patient populations, they worry about a financial return. My biotech survives off of federally funded NIH grants, the grants that Phoenix Nest won are all in support of a treatment of Sanfilippo type D, not C as in Jonah’s version. The grants are intended to fuel small business in the US.  My MPS IIIC research was primarily happening in Canada and the UK. I have recently remedied that by bringing our research to the US. I have applied for a IIIC gene therapy grant but I absolutely cannot count on winning it.  The competition is fierce. Even more so now that funding for the NIH and the FDA is tied up in COVID research. Furthermore, the grant review process takes over a year from submission to funding. I can’t stand waiting by and watching these kids lose all their abilities. Enough is enough.

 

Happy Mother’s Day! I do greatly appreciate your contribution to the world.  Your children’s music has been a much-needed distraction. Billie also inspired me to bleach my hair blonde and die my roots pink. I will be on the look-out for when Billie comes back to NYC.

 

Best of luck to all of you!

Jill Wood (Jonah's mom)

 

 

 

 

Jill and Jeremy @ Central Park, wedding day May 6th, 2006

Is silence compliance?

  

Is silence compliance?

 

I have grown a lot over the 10 years since Jonah’s diagnosis, but I still feel like a kid.  I’m hungry to learn and experience new things. Like a little baby, wide eyed soaking it all in, touching everything, sucking on life hoping to learn something from the taste and texture. It’s not possible to discover what you want to learn in a single lifetime. I’ve always been impressed by kids that knew what they wanted to be when they grew up and followed through with their aspirations. I was never drawn to any one particular vocation. Why did I have to choose just one career? There is so much to do, so many possibilities. As life would have it, I didn’t have to choose, my job chose me. It quite literally chose me, Jonah landed right in my lap.  Now I have more jobs than I know what to do with.

 

Math, science and public speaking were never my strong suit. I was terrified of public speaking, I don’t like people looking at me, judging me. A propensity for math and science, chemistry in particular never came to me. I admire the people I work with, they worked hard to earn their doctorate and medical degrees. I have never felt worthy of being in their league, I feel guilty, it’s imposter syndrome.  For the most part this feeling of inferiority is on me, my colleagues have never treated me as inferior to them. Quite the opposite, they have embraced me and lifted me up. Who I am has rarely been held against me by others in this space. I feel good about who I have become and I look forward to all the new things that I will continue to learn. I have finally settled into my job; it’s not so intimidating anymore, and I actually find it exciting.

 

Writing NIH grants is a talent, not only do you have to have a worthy proposal, you also have to compile a grant in such a way to meet the specific and strict standards of the NIH. These processing rules are not self-explanatory. There are a lot of fine print requirements, the formatting of the grant is somewhat of a test in itself. The application process is harder than the science; easy for me to say, I’m not actually working in the lab. Last grant round we submitted three grants, they go to review in November, yesterday we got word that one of the grants was rejected without review.

 

My contribution to the team is my firsthand connection to the patients and intimate understanding of the disease. I realize now that what I bring to the table is invaluable. My life experience is also the basis of my imposter syndrome, I don’t have a medical or science degree and it weighs on me. My biosketch was written by my former CEO, I thought Sean did a nice job of presenting my strengths and value to the team.  Our grant was removed from review because my biosketch contained a hyperlink to this very blog.

 

The grant rules include a clause that hyperlinks are not allowed in the grant due to security reasons. The clause says this https://nexus.od.nih.gov/all/2019/05/13/the-dos-donts-of-hyperlinks-in-grant-%20applications/

At the end of the day, risk avoidance may be the most convincing reason to avoid unrequested hyperlinks. NIH may withdraw your application from consideration if you include them. Don’t risk it. Write a compelling, self-contained grant application and let it speak for itself.

 

This is good advice and I wish I would have taken it. However, I don’t think it’s fair to say that a biosketch is part of the scientific portion of the grant application. To me a biosketch is a supporting document not the grant. The grant was exceptional, if I do say so myself, we will resubmit without the hyperlinks in January.

 

The response from the NIH to our rebuttal for disqualifying our grant for a hyperlink gave me pause, the wording of the rejection letter was ambiguous. It could just be that pesky imposter syndrome sneaking up on me. Out of fear of retribution I will refrain from writing what it said. Was it the hyperlink and fear of malware that concerned the NIH or is it that I write a personal blog which was seen as a breach of security? Had a reviewer read my blog in the past and was uncomfortable with something that I said? From one vague line of reasoning in the rejection letter I got the sense that someone held bias against personal blogs. If the shoe was on the other foot, I might see me as a liability too. It’s really hard to not judge someone by what they write.  I know that employees of the NIH have read my blog. I was invited to speak at an NIH workshop in part to what the organizers read in my blog. The whole thing has put a bad taste in my brain, and I hope after writing about it I can put it behind me.

 

My first reaction was to delete my blog, I have always feared that my blog would come back to haunt me. At the end of the day I keep the blog to face my fears, testing my convictions gives me strength. Swallowing my pride and putting myself out there has proved to be my most valuable skill set.

 

My biggest fear is that I will not be able to fund our clinical trial and I will have failed all the families that have hope because I told them they could. I believe in our science I believe that with the approval of our gene therapy program and newborn screening that we will save the next generation of children. I can’t promise that we will be able to save this generation of children, because I can’t promise that we will have the funding to complete our research. Funding is the only thing that stands in our way. Once my company creates a treatment for Sanfilippo, I hope to be able to reinvest drug proceeds into research for other rare diseases. No parent should ever have to hear: “your child has a terminal rare disease and there is no treatment.”

 

I have so much conviction of seeing this through that I have turned my life and my family’s life into a constant state of financial and emotional flux. Thursday- after listening to the presidential debate, I actually asked myself, would I give up winning these grants to see Trump out of the White House? What is more important to me, Trump out of the picture? Or immediate funding to treat our Sanfilippo children?

 

I’m aware that I’m making an egregious social media faux pas for speaking my mind about Trump. My son’s life is on the line and I need funding from any political party to help save our Sanfilippo children. Here is where my moral convictions come into play. I do believe that silence is compliance and I can’t silently stand by and watch Trump mock everything that I hold so dearly. My son has ‘bad genes’ that he got from me and my husband, which caused him profound brain damage. Jonah will need assisted care for the rest of his life.  Where do children like Jonah fit into a Trump dynasty?  I know Trump sees my child as weak and a failure, not worth tax-payer dollars. I know it because I have seen him in action, I don’t have to read is raving tweets to know that he’s a maniacal and unconscionable person that cannot be trusted.

 

If we’re able to get Jonah a treatment in time, I’ll be able to halt the progression of the disease and he’ll most likely outlive Jeremy and I. Jonah doesn’t have any siblings to look after him when we’re gone. I’ll have to trust our government to meet his needs.

 

Please think of Jonah and all the other vulnerable children when you cast your vote. Do you believe that Donald Trump has the best interest of the vulnerable and less fortunate at heart? Actions speak louder than words, I think this is true. People don’t always mean what they say, and their words are sometimes misunderstood or taken out of context. However, a person’s actions tell the truth.

 

One more favor, I’d greatly appreciate it if you would post this video on your social media platforms, in hopes that it will go viral and raise awareness for Sanfilippo syndrome and funds for a treatment. https://www.gofundme.com/f/saveconnor  If you’re not comfortable with clicking a hyperlink you can google SaveConnor.com 

Happy Halloween! 

JW

#SaveConnor = #SaveJonah

 

Luck is in the eye of the beholder.

 

The goal that was named cannot be countermanded

 

The goal that was named cannot be countermanded.

I named my goal JLK-247 and it can’t be taken from me.

 

I see clearly now, and it feels good, I feel good.  All the parts have come together to form a map and I can’t wait to get where I’m going. Once I get there I won’t stay long, I’ll be off to live my life, free from that which binds me.  

The translation: Sanfilippo binds me and I’m going to the clinic with JLK-247 to get rid of it. Then Jeremy, Jonah and I will travel on living happily ever after.

 

I love looking at the map, I made a vision board for 2021-2022. I have a lot of mile markers on the board and I’m anxious to tick them off. The rendering of our vector is there too, it contains all the components that make up JLK-247, plasmids, capsid, AAV9, HGSNAT, a promoter and some other stuff. It’s beautiful, when we’re done, I’ll have it tattooed on my back.

 

This year has been one disaster after another.  These disasters are of our own making and they’re not going to go away by ignoring them, they’re just going to get worse and worse. Could 2020 get any worse? You bet it can! The solution starts with us, it’s time for people to get over themselves and start thinking about someone else. I’m hoping you won’t think about how much you hate the other person, but how you might come to know each other.

 

I have one huge agenda that consumes me, but I can’t ignore the bigger picture. Why cure Sanfilippo and save our kids to have them live in an infested world of hate, plague and decay? This is a rhetorical question. I love earth and people; I have faith that we’ll figure it out. It will take a lot of work, but it will be worth it.

 

JLK-247 is what I named the drug that we’re making. JLK stands for Jillian, Lindsey and Kelsey, three sisters who should be graduating from college, starting careers and families of their own. I think about this family all the time and how their parents care for them 247. It’s not my place to share the private lives of this family, I can share mine instead and you can times that by three.

 

No school and remote learning brought our family to the edge of the cliff. Jonah just couldn’t settle in, computers to Jonah are not meant for learning, they’re meant for entertainment. He’d have his good sessions and bad sessions, where he’d listen and follow instruction or not. The nightmare was with the technology, if the computer didn’t load fast enough or it crashed, any technical issue sent Jonah off on a rage. He took his frustration with the technology out on Jeremy and me. It was all our fault that it wasn’t working. He beat on us, he threw things at us, he screamed on the top of his lungs. All we could do was hide and try to get out of his way until he came down.

 

If I lived next to us, I’d either move or call the cops. I ran into my next-door neighbor the other day, when I say next door, we share a wall. She asked me how we were doing with such kind eyes, full of sympathy, I wanted to hug her for her understanding. I said, you know how we’re doing you’ve had to listen to us all summer.  She didn’t try to pretend like she hadn’t heard us, instead she said she was sorry that she feels helpless and wants to help somehow. Now this is a person that cares about her neighbors. We are so lucky to have her as a neighbor. Meanwhile the apartment below us has had three families move in and out over the 4 years that we have lived there. This last family just moved out, I checked the door handle this morning and it’s open. I’m going to go in and have Jonah run around upstairs to see how bad it is. Is it just a coincidence that 3 families moved out from under us?

 

For whatever reason, Jonah just stopped hitting us. The rage is gone, he still gets angry, but he doesn’t go after us. It’s like a switch was flipped and he can now control himself. It makes no sense, but I’ll take it! In retrospect, his ear was filled with oozing gunk for the majority of the summer which could have contributed to his behavior.

 

Jonah has not gotten out much since COVID a normal summer would have him in camp during the weekday and at the playground on the weekend. Every weekend he walks to the office with me, where he gets to watch T.V. all day. He’s here with me now.  On one of these walks, I noticed that his gait had changed. Jonah is walking on the inside of his feet and his knees are turned in.  I need to get him into the orthopedist and see about some braces. How fast will he lose his mobility? Most Sanfilippo kids his age, have wheelchairs for outings.  This weekend thing started by giving Jeremy a break, Jeremy has been doing all the home schooling, which is going to start up again tomorrow. For now, it’s one week at school and the next week remote learning. I’m actually not that concerned about sending Jonah back to school. He only has a handful of kids in his class and on his buss. His teachers are not run of the mill teachers, they’re highly trained specialists. They have had experience with numerous medically fragile children, I have confidence in them. I also have confidence in the parents of the other children. I don’t believe that any of the parents from this school would put another child’s health at risk. We’re all ‘special’ kids here and we appreciate that. Furthermore, what’s happening to Jonah’s intellect and body supersedes the fear of COVID.

 

My goal is to be in the clinic by October 2022. My heart lifts every time I say that. I have never been able to say a date with such conviction. I know it can be done if and only if the funds come in. We’re working with a not for profit called the Columbus Children’s Foundation, the foundation was co-founded by Jude Samulski’s company, Asklepios, Viralgen and Columbus Venture Partners. The mission of the foundation is to help people like me accelerate gene therapy. Asklepios reassembled our vector for us last year, when we decided to grade up from a single strand vector to a self-complimentary vector. Asklepios works hand in hand with Viralgen, Viralgen is the vector core plant that is manufacturing our vector for us. The Columbus Foundation acts as our broker, they negotiate the cost of our vector with Viralgen and Phoenix Nest pays the Foundation. The exact price of our vector production is confidential, but I can tell you this, we are saving 3.5 million dollars and just as importantly we will be expedited to the front of the line! No waiting in a line shaves off a year! A year can mean losing the skill of walking.

 

Every piece of this puzzle that we have been able to foresee has been sorted out. All of our ‘vendors’ have been contracted our statement of work agreements have been sorted, the investigators and sites have been chosen. The interventional trial design is a work in progress, we have designed the Natural History Study protocol, which will be the lead in study to the interventional trial. That data derived from the NHS will decide the course of the interventional trial. The NHS is a 2yr study the kids will go in 3 times, first will be the base line, the second will be a year later, the same procedures from baseline will be conducted again. The last visit will be right before the interventional trial. We will have three data points in which to compare the ‘on drug’ data to. The NHS is the control arm. On my vision board, I have the goal of the first child enrolling into the NHS this October. You see the interventional trial with JLK-247 can’t start until the NHS i.e. the control arm is completed!  The pressure is on. I just can’t stand waiting anymore, it’s figuratively killing me and is literally killing the kids.

 

How will we pay for this? Grants, V.C., not-for-profit fundraising and a whole lot of pro-bono work. These resources are all on my vision board too. I finished my pitch deck and sent it off to a VC last week, we have three grants in now and will be submitting a fourth late October.  We should know by November if we scored high enough for funding, April is the earliest that we would receive any funding. For transparency sake one of the grants is for our IIID program, 2 are for small molecule programs that could translate to all four subtypes and the 4^th one going in in October is for our gene therapy program. We can’t write 4 grants on the same subject and send them all to the NIH for funding. They have to be different approaches and they’re all going to different grant calls but the same funding source.

 

I have been training for an ultra-walk fundraiser apply named ‘Step-Up’ that is happening in Philly on October 11^th. It’s a Rocky theme. I watched Rocky for the very first time, last month. I actually didn’t realize that I had never watched it. It’s a timeless movie that penetrated our culture so well that I thought I had seen it firsthand. I can’t believe how much I loved it! My next blog is going to be all about Rocky and the symbolism of this walk.  I’d love it if you watched the Rocky movie and joined my team. If you can’t do either of those things, you can donate or share to someone else that might want to be part of this thing. It’s all about changing what you can to make the world a better place for everyone. 

 BTW the line: The goal that was named cannot be countermanded. Came from Walt Whitman’s poem the ‘Song of the Open Road’.

 

 Jonah's back to school haircut, he's starting 7th grade tomorrow!

Step up

I said I would!

I had a good college dream the other day. Instead of one of those college nightmares when you find out that you wrote down the wrong date of the final on the day of the final. Oops  Or did that really happen? I think it did and I think it happened more than once. Last night I dreamt that I decided I was going to go back to school for biology. Jeremy was really happy for me, he thought it was a great idea. The dream was pre Jonah and we still had the rest of our lives in front of us. In my dream I was so relived, I felt great.

Our dreams reflect what’s going on in our waking life.  Sri and I had some very ambitious plans to submit two NIH grants.  While writing the grants the score from our previous grant round came back. Two out of three of the reviewers gave us great scores, reviewer # 1 however gave us a horrible score. His/her comments were the exact opposite of the other two reviewers and way off base.

Sri dropped everything to write a rebuttal, because of COVID the NIH gave everyone extensions on grant submissions which were lenient enough to allow us to resubmit our grant during the current grant period. In layman’s terms we would have normally had to wait until June to resubmit. The other two grants were finished and submitted on the due date. Even after the NIH gave us a six-week extension we still got the grants submitted on the day of.

I’m actually starting to get used to the last-minute thing. When you’re working with a half a dozen collaborators, very busy collaborators that are working on the assumption that we ‘might’ win the grant. There isn’t a ton of incentive for our collaborators to bust their butts for a we might win. My scientists did an awesome job collaborating and pushing drafts back and forth adding and revising, it's just a lot of people and institutions to work around. I hold my breath and hope for the best. That was last week.

This week our comments were due back to the FDA in response to a draft guidance for industry on Sanfilippo drug development: “Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry”. The guidance is advice to industry on what the FDA would like to see industry follow while designing their drug trials.

At first, I was super excited that the FDA was taking the time to address Sanfilippo, we’re an ultra-rare disease and they were actually thinking about us. The opening was pretty straight forward, no grievances there, as I read deeper, I became perplexed, reading further, my heart started pounding. I thought WTF is this shit. Not having ever read an industry guidance before. There were some blatant inaccuracies and I was disturbed that the guidance covered all 4 subtypes of Sanfilippo but hardly said anything about IIIC or D, as if we didn’t exist. Towards the end of the guidance it suggested that industry should have a randomized, parallel group trial design with an appropriate concurrent control group. The tears welled up in my eyes, I couldn’t believe what I was reading. In layman’s terms, this meant that out of 10 kids in a trial that 5 of the kids would be receiving placebo. I panicked- this one line became my full focus of the entire document. My mind envisioned the worst, here I am the sponsor i.e. ‘industry’ conducting the trial and I’m going to have to tell the parents that I have known for 10 years that half of their kids would be receiving drug and the other half wouldn’t. That’s just one thought. What about the families that have siblings in the trial, one child receives placebo and the other drug? Furthermore, these are not simple trials, they’re extremely invasive and there is a lot of risk involved. In some instances, families will have to move to the trial site, or travel back and forth with their kids for a couple of years. Lastly, It’s a huge financial and emotional burden on the families. Who’s going to participate in a trial, knowing all the risk?

Mari sat at her desk watching me go through my emotions first elated then heart broken, the phone rang, Mari said it’s Cara. Cara was just as dumbfounded as I was. We talked out our game plan, WORLD was in a few days, we’d have the opportunity to see all of our key opinion leaders, including pharma and our doctors. The Cure Sanfilippo Foundation pulled together a last-minute meeting with all the major stakeholders. I called my go to advisor.

She answered the phone on the first ring, “Jill….. I know why you’re calling. Don’t worry this is a boiler plate guidance, the FDA has to say that. This is our opportunity to tell the FDA how the guidance should read.”

I jumped down from the ledge and re-read the guidance. I read it over and over, I know it by heart. Our stakeholder meeting in Florida went really well, it was inspiring to see half a dozen competing drug companies sitting at the table with parents and our physicians.  Remember there is A and B then there is C and D. A and B are more prevalent and therefor receive more pharma attention. Phoenix Nest is the only company working on a treatment for C and D.

WORLD is a huge conference with thousands in attendance from around the world, the focus is on lysosomal storage disorders. It is always held in February, this year it was the 9^th-13^th.  On my flight to FL, I noticed that the snow-birders were wiping down their seats and tray tables. Not unusual thing to do but they were ALL doing it. While in Florida I got a text from Mari, her boyfriend had just picked up his first COVID body. Mari’s boyfriend runs a mortuary in Queens with his dad. I asked my doctor friend what COVID was, she replied some flu going around. I thought about the grannies on the plane wiping down their seats. On the way home they were doing it again, I gave the women next to me my puppy dog eyes, and she offered me a wet wipe. Relieved I wiped everything down.

Once home I was so busy working on grants and preparing for my FDA talk, I completely ignored the news happening around me. Mari kept bringing COVID up and my upcoming travel plans. I ignored her. Off to the FDA on Amtrak, I had a speaking engagement that I had been stressing over for weeks. I was still a bit bitter about the Sanfilippo guidance, the writers of the guidance were also the organizers of the workshop. I did not hold back in my talk, the organizers said I should be open and honest, tell it like it is. They sincerely wanted to hear how they can help the ultra-rare community. I believe them too. During the months before my workshop there had been several other workshops on the same topic, but from different angles. I knew of a couple of closed-door meetings as well. After my talk, Dr. P.J. Brookes spoke and for the first time we heard publicly what the FDA and NIH were planning and had actually just executed. I left the workshop inspired, the FDA was listening, and I just got my chance to add my two cents. I was thanked profusely by FDA officials, they whispered to me that my talk was exactly what the FDA needed to hear. One of these guys knows that I have no filter.

http://fda.yorkcast.com/webcast/Play/b9c6ac08f3d040eba768ef43befb498f1d

My main grievance that I spoke about was the disparity between a rare drug and an ultra-rare drug. The Orphan Drug act was passed into law in 1983, at the height of the AIDS pandemic, the ODA did a bang-up job incentivizing pharma to create drugs for HIV. Remember how scared we were of AIDS, curious are you just as scared of COVID? In the US HIV was still considered a rare disease. We hadn’t been hit as hard as other countries. The ODA gives pharmaceutical companies 7 years of drug exclusivity, meaning a generic drug can’t come out and compete with them. I think it is commendable that GILEAD gave back its Orphan Drug Designation, they knew it was unfair, COVID would soon surpass the definition of a rare disease.

There are 7,000 rare diseases, a rare disease in the US is defined as having a patient population of 200,000 or less.  MPS IIIC has 20 known patients in the US. Think on that. If you’re a drug company what disease are you going to choose to make a drug for?

This is why I created Phoenix Nest, 10 years I have been doing this. In those ten years I have not had a company offer to partner with me, or a VC want to fund my company. I shared this with the FDA. I told them that the Orphan Drug Act needed to be updated. That they needed to officially recognize ultra-rare diseases and while they’re at it to recognize uber-rare diseases too. The categories need to have incentives that fit the disease patient population.  Parents should not have to be the people driving the science. I have de-risked everything for pharma to come and commercialize our drug, yet MPS IIIC and D still don’t interest them. Our drug is extremely expensive to maintain, and they don’t think the return will be worth it.

Let’s get real, pharma can pick a rare disease and get the same incentives and make a ton more money.  My disease has another problem too, it’s so slow to progress that sponsors don’t want to wait around long enough to prove to the FDA that the drug works. This was another topic that I highlighted in my talk and another opportunity to create incentives for.  Of course, the FDA just can’t snap their fingers and give diseases like mine a fair chance. It takes an act of congress. I’m not directly asking for taxpayers’ dollars to go to uber-rare diseases, I’m asking for more federal dollars to go to the FDA and NIH, so that the FDA and NIH can hire more people to support the extra workload that I’m asking for them to do. Incentives can come in the form of FDA and NIH handholding, guiding sponsors through trial design and lending their expertise. Lowering trial and error risks and spreading out the workload.

On a side note, the scientists in front of me had their laptops open to graphs and charts, they were whispering about the spread of COVID. Between March and May I had three more work trips planned plus 2 flights to Oregon. The moment I got home the emails started coming in everything cancelled and NY shut down. At least COVID gave Sri and I more time to get our grants in. Tuesday was the deadline for PN to submit our comments to the FDA regarding the guidance. Not to mess with tradition, I got my comments in at 5:05pm on Tuesday.

I did miss one deadline. I promised to shave my head on the 5^th for the #GivingTuesdayNow campaign. I didn’t have time, I had to get the grants and FDA comments in. Not an excuse to delay the shaving, I said I’d do it. I also wanted to write another blog telling all our supporters why you should help me fund gene therapy for Jonah and his friends.

I finally feel in control of the development of our gene therapy program, from the last dosage and tox study to designing the NH and clinical trial. Moving from a site in the UK to UTSW in TX was the best thing I could have done. My reasoning for sticking with Manchester was emotionally driven and not practical.

After having our Pre-IND meeting with the FDA, I could no longer lie to myself, I had to finish the job in the US. All the resources I need to complete my job are right here. The FDA asked us to do another dosage study with mice, there is no getting around that. Over the years I had been turning to Steve Gray as an advisor, he was on our Pre-IND call too. Steve had asked me before why I hadn’t had Brian create our AAV9 with a self complementary (SC) backbone instead of a single strand (SS) backbone. The thought 8 years ago was that our gene was too big to fit into an SC backbone. Steve begged to differ; it could be done now.

When the FDA told us, we had to do a dosage study, Steve brought it up again. Here is our opportunity to strengthen our vector. With the help of Jude Samulski (Askbio) and Steve Gray’s lab we made a new vector. When I say we I mean them I just said thank you. Then Sri and I found the companies to do the next dosage study and a new tox study and the labs to turn the vector recipe into a drug. The Cure Sanfilippo Foundation came through with the funds to get us started.

I’m really happy. I’m happy because I don’t have to depend on a University to get the job done. We’re working entirely with contract companies; I give them a job to do and they do it. We have a service agreement, no lawyer involvement or having to license anything, all IP belongs to PN. I don’t have to deal with PhD students quitting, or college breaks and vacation time off.  Now, I have a representative that I can call anytime for updates and I get them in a timely fashion. It’s so nice to work with a good CRO. We’re making three plasmids from two different companies that will be sent to a fourth company to combine the three of them and then sent to the 5^th company a vector facility to be attached to the virus and scaled up. Everything has to be seamless. It is a massive amount of monitoring. Good thing Sri and I never do anything last minute.

I need another $600,000 to conclude these studies and I don’t know where it’s going to come from yet. I have my doubts that shaving my head on Sunday, Mother’s Day will really inspire a $600,000 donation, one can hope. This is also the week of Jonah’s MPS IIIC diagnosis. Ground zero, it’s officially 10 years now. In the beginning I had hoped we would have a drug through trial by now. If I had the funding, we would have been. I don’t know how I feel about this reality. I don’t think it’s unfair that I wasn’t wealthy when we had Jonah. I don’t think it’s unfair that wealthy folks turn away, that is their prerogative.

I have had plenty of people help me with in kind services and they’re the reason we have gotten this far. I’m mostly disappointed in myself for not being able to find someone to invest. I haven’t tried hard enough; I hide behind my blog and speeches, so I don’t have to look anyone directly in the eye and ask for money. I’d rather do everything by myself then ask some nasty MBA for an investment only to be told that they wouldn’t touch my disease with a ten-foot pole. Note to self, I need to hire someone to do it for me.

The grant we resubmitted would lighten the load a little bit, but Sri and I fear that the competition for NIH grant funding is going to double now that COVID has wiped out our economy. Labs will be turning to grants now that investors are tightening their purse strings. As for the future where will the federal government be putting their resources? One can only hope that our country will realize how important the FDA, CDC and the NIH are to us. Even if the NIH continues to be funded as well as in the past, there will most certainly be more competition. I can’t count on federal funds anymore.

For whatever reason I feel good, maybe it was the dream, maybe it’s todays sunshine or the relief of our deadlines done. I feel good because I have support. Not financial support but the support of brilliant and compassionate people that want to help me and that is half the battle.  

Speaking of the brilliant and compassionate people helping me, here they are! A huge shout out to UTSW, Berge Minassian and Steve Gray, Dr. Gray being one of the scientists that helped me redesign our vector to be everything it can be and Dr. Minassian, the man that has offered up his team of physicians to run our NHS and our gene therapy clinical trial. https://www.dallasnews.com/business/health-care/2020/04/29/with-30-million-in-funding-dallas-startup-will-speed-gene-therapy-clinical-trials/

After reading the article you’re going to ask me why Taysha therapeutics hasn’t picked up MPS IIIC? Don’t think I haven’t tried, but obviously I haven’t tried hard enough. The CEO of Taysha, RA Sessions II looks like a nice guy, not the type to tell me my disease is too rare. Maybe Mr. Sessions will catch the video of Jonah shaving my head on Sunday and come to the conclusion that I’m not just another crazy desperate mother trying to save her child’s life. That I’m completely rational and my son is totally adorable. Then he’ll ask Steve and Berge if we’re worth the investment and they’ll vouch for me. Hoping Jonah keeps his cool and doesn’t get overly excited, shave off my eyebrows and cut off my ear. I am such an optimist.

https://www.facebook.com/donate/222359589064057/10157328215922215/

Happy Mother’s Day Mom and good luck on your surgery! We can’t wait to come visit you.

Don’t stand so close to me

Don’t stand so close to me

Jeremy, Jonah and I live in Brooklyn, NY, friends and family are curious and worried about our situation here.

I don’t know that I feel any different than the rest of the country. NY has been hit hard; we’ve lost more people to COVID then on 911. I see the same news that you do and it’s true, the bodies are piling up. I often take a walk through Greenwood Cemetery for the fresh air and serenity. There are new graves being dug on a daily basis. I have walked by numerous services, families standing in clumps 6 feet away from the next family. Shivering in the cold and not able to comfort each other. The officiants voice barely audible to those that can’t get close enough to hear. I keep my head down low, trying to be invisible, thinking about the path that lead us to this point.

I take back my first sentence. I guess I do feel differently than people in many parts of the country. I see and hear that not all counties are responding to COVID with the sense of urgency that New Yorkers are.  I hear from friends and family living in rural areas that people are for the most part not afraid of COVID. Well you should be. As of now I have three friends that have lost a parent to COVID. You might survive COVID, but the loved one you spread it to might not.

It has been really hard working from home and trying to adapt to a new schedule. Jonah thrives on routine; he thinks that since he’s not at school that he should be watching t.v. all day.  I have already seen a change in his speech. He’s not enunciating his words as well; you can tell that not having speech therapy has taken its toll. I worry excessively about how much he’ll decline without school for 6 months. He is taking classes on zoom now with his teachers. Jeremy sits side by side and helps Jonah to maintain a routine and not lax on the homework. 

I don’t have the words to articulate what Jonah’s brain is like. He’s losing the concept of time; I stare hard into his eyes as if I look hard enough, I can see into his brain. I listen to him ask me the same question over and over and over again, at least 250 times a day he asks us if he can watch. I tell him not until Friday, he asks well what is today? I say it’s Tuesday, he responds is Tuesday today is today Friday? It is bloody depressing.

He’s so serious when he asks, like it’s the first time he’s asked. Jeremy writes out Jonah’s school schedule for him every day.  Jonah is actually getting better at telling time, but does he understand it… We tell him Yoga doesn’t start until 9:00, he asks what time is it? I tell him to tell me, he says it’s 8:45, I look and it’s 8:39, I’m so impressed that he’s that close! He turns around and asks for his ‘talker’ so he can zoom with his class for Yoga. Again, I say not for another 15min. This is when the frustration begins and the aggression rears it’s ugly head. Jonah turns from Bruce Banner to the Incredible Hulk, running at us pushing us up against the counter punching at us. He runs back to the other room and throws the kitchen table chair. It takes us 20 minutes to talk him down. I wish I can get into his head and patch up the dendrites that aren’t passing the messages through his brain cells and out the other side into a synaps (the message) to be caught by the next working brain cell. It hurts so bad to see him struggle, Jeremy and I know the boy that is in his soul, we can see him. We know Jonah can’t help himself, the Hulk controls a part of his brain. It’s been really hard, the change in his routine has really thrown him off. I want the Hulk out of his brain. The Hulk being a metaphor for Sanfilippo.

Mari’s big brother Antonio is recovering from COVID. During isolation, Antonio got to thinking about Jonah and all the people that suffer from terminally ill diseases. All the attention on COVID and the scientists furiously racing to create a vaccination. Antonio thought about the people who live like we are now; but do so everyday of their lives. Antonio made a selfless gesture to turn his struggle to recovery from COVID into a fundraiser to raise awareness for Sanfilippo syndrome. 

Nobody can go to the barbershop or hair salon, so Antonio donated the $40, he saved on a barber shop cut to The Cure Sanfilippo Foundation, this action resonated with me.

I’m frustrated and out of sorts, I have lost control over my daily schedule, I want a change that will fit the times; one that will gratify the rage that I am feeling. A new Tattoo is off the table.

I’m going to shave my head too! I’m going to shave it on May 5^th, actually I’m going to let Jonah ‘attempt’ to shave it. He can at least cut the ceremonial ribbon, in this case lock of hair.

May 5^th is kismet timing. Mine and Jeremy’s anniversary is May 5^th, MPS awareness day is May 15^th, Jonah was diagnosed with MPS IIIC May 10^th and Mother’s Day is on the 10^th this year too.

The Kismet part is that the powers that be have decided to bring Giving Tuesday back NOW for the not-for-profits that are not receiving the funding that they normally would during this depressing and unpredictable time. Giving Tuesday is happening on MAY 5^th.

The shaving will happen live on FB at 3:00pm Eastern time, 12:00 Pacific and 8:00pm for Europe.

BTW if you have ever loved a red head you will be close enough to know how vain we are of our red hair. It’s our pride and joy, it makes our day when someone says I love the color of your hair. Which they do quite often, we all think to ourselves I know my hair is amazing. So, you know I do not take this endeavor lightly. I’m a little nervous that I’ll feel ugly and that will depress me even more. I’ll think about all the funds I raised for a cure for Jonah and our good buddies. https://www.facebook.com/donate/222359589064057/

When the system doesn’t work for you, change it.

When the system doesn’t work for you, change it.


Since JJB came into existence there have been 7ish Sanfilippo trials.

Please, do your own fact checking, everything I say here is off the top of my head. Don’t hang me with a meme. I admit that my memory recall is not always 100% accurate, it’s up to you to do your own due-diligence!


February 2017, Alexion/Synageva shelved its Enzyme Replacement Therapy (ERT) for MPS IIIB. Around the same time, UniQure decided to disband their gene therapy program for MPS IIIB before even taking the leap to clinical trial. November 2018, Shire shut down their ERT for MPS IIIA, citing that they failed to improve neurocognitive activity in infants and children in early stages of Sanfilippo.

The second wave of Sanfilippo clinical trials have been in upheaval, BioMarin announced that they were divesting their ERT drug, Tralesinidase for IIIB. A huge shock to our community. Fortunately BioMarin was able to  work out a deal with Allievex. The trial will continue without pause, a huge sigh of relief. Congrats to all of the families participating in the trial, I hope that all your dreams come true!  Sad to say, Sobi’s MPS IIIA ERT trial is still in flux. Hoping for a Christmas miracle on that one.

Can you imagine being told your child has a terminal illness and there is no treatment? Then miraculously a treatment goes to trial and your child is accepted into that trial! I’d be dancing for joy, screaming from the rooftops: “My child has just received a second chance at life!”

Some families have to relocate to be closer to the trial center, their lives and careers uprooted. Now imagine being informed that the company has had a change of heart and is moving in a new direction. Sorry.. this drug will run out and will no longer be available to your child. That's what happened to the families in the Shire and Alexion trials. Sobi…

This news would destroy me. Diagnosis day all over again, with the caveat, this drug might be a able to stabilize your child. Regrettably, we don’t have the bandwidth to see it through.

Phoenix Nest is creating an ERT for MPS IIID and a gene therapy for MPS IIIC. What makes me think that the treatment my company is creating will make it through clinical trial and onto commercialization? At times I feel like the deer caught in headlights. Survival instincts kick in, run as fast as you can.

One of Jonah’s favorite books is about the gingerbread boy. Do you know it?  Run, run as fast as you can, you can’t catch me, I’m the gingerbread boy. In that book the Fox gobbles up the gingerbread boy. But in the sequels the gingerbread girl and the gingerbread baby, they learn from their brothers mistakes and outfox the fox. Jonah reads that book to me and recites, run run as fast as you can, you can’t catch me, I’m the Gingerbread Baby!  So darn cute, my heart swells and I giggle. Jonah recites that line with such glee and passion, I want to believe with all my heart that Jonah and I will outfox the fox. Jonah has made it this far.

Why can’t we get a Sanfilippo treatment over the finish line?

I think drug companies are setting their drug up for failure by using cognitive endpoints as the end all to be all determinant. If you use cognitive decline as your endpoint, you’re missing the point. 

Jonah, now 11 is cognitively at the same level as he was at the age of six. For the past five years he has remained the same, no better, no worse. A gene therapy clinical trial is a one time dosage, normally the FDA would follow the child for a couple of years before granting an approval. If Jonah was on a two year trial, we could say that the drug worked, because Jonah is already stabilized. His cognitive score would not have changed.

Our kids can be progressing perfectly one day, get pneumonia the next and stop speaking a month later. You’ve seen my posts, some kids pass in their sleep no sign of an illness beforehand, just gone before daybreak. I do not reference this callously, follow me to the end. We have no idea when our children will pass, the only certainty is that they will pass.

Our disease is too slow in it’s progression to get through a clinical trial in a feasible timeline and is too heterogeneous for us to use typical FDA measurements. As it stands Sanfilippo does not have an approved biomarker and to that, we don’t have any ‘good’ endpoints to measure. Sanfilippo syndrome is a serious conundrum for the FDA. Meanwhile our kids are dying. It falls on the patient community to scream from the roof tops: Help us! We do actually have a good biomarker, it's just not an FDA approved biomarker, Heparan Sulfate.

Our trials lean hard on cognitive testing assessments like the Baley, Kaufman and Vineland. It’s unfair to expect a child with profound behavioral and cognitive dysfunctions to perform on these tests. Jonah might perform above and beyond expectations one day and horribly the next. What they can accomplish at home might be completely different in a classroom setting. The first time Jonah had one of these tests was right after diagnosis. Jonah was meeting his developmental milestones then, but his behavior was off.

Most all children fear something. Sanfilippo children have irrational fears they might be terrified of: dogs, cattle, running water, Santa or clowns. For years Halloween was a straight up no go in my family.  Jonah fortunately has moved past his fear of dogs.

A Sanfilippo child can’t be consoled by a parent, fighting mom or dad off and running into traffic is their instinct. If your child bites you to escape your protective embrace to save themselves from a dog only to be hit by a car… You have a problem or two. Irrational fears are not the same as rational fears. Monsters in the closet, ghosts, getting lost, meteorites crashing into Earth, robberies, parents dying in a car crash or Trump winning another election. These are all rational fears. Sanfilippo children at any age don’t understand death, nor can they comprehend what would happen if a rock hit the Earth.

Getting back to Jonah’s first cognitive testing appointment. The room was small, it felt like a closet sized library without windows or air circulation. Jonah was 2 years old, no cognitive regression, but Sanfilippo was why he was there. For transparency sake, Jonah also had the flu that day. In walks his the facilitator, she looked us in the eye, introduced herself and shook our hands. The facilitator had heterochromia i.e. her eyes were two different colors. The situation did not go over very well for Jonah. Jonah was beside himself, he tried and tried to escape. He wouldn’t calm down. I was removed from the room, reason said I was a distraction and Jonah was feeding off of me. It hurt me to leave Jonah in this state, he was terrified. I justified my departure, Jonah would get over it and hopefully the doctor would learn her lesson.

I sat in the waiting room listening to Jonah scream bloody murder on the top of his lungs for 20 min. Jonah did not relent, I decided it was now child abuse and I walked to the room to rescue him.  Before I could knock- the doctor opened the door. Her face was flushed, hair wet and her wild eyes blood shot. She apologized profusely. I looked at her smugly as Jonah threw himself in my arms. Walking away, I realized that the doctor hadn’t a clue as to the real cause of Jonah’s terror. I should have told her that no matter how hard she tried or how good Jonah felt, Jonah would not have followed her instruction. You can’t expect a cognitively impaired child to focus and follow your instruction when you have one brown eye and one blue eye. You make no sense to Jonah, to him you’re a trick question.  *I had hoped that I didn't have to apologize for pointing out someones physical difference. Absolutely no disrespect to anyone with heterochromia! Heterochromia is by far the coolest physical change that one could be blessed with. Don't call me Firgie and I won't call you Bowie.

The system doesn’t work for us. What do we do when something doesn’t work? Fix it!

The FDA has already thrown us a bone by creating a 'guidance' for situations like ours the guidance is called: “Slowly Progressive, low-prevalence rare Diseases with Substrate Deposition that Results from Single Enzyme Defects.”  It was released July 2018 an update in response to the 21st Century Cures act. The Orphan Drug Act and Pediatric Review Vouchers were also created and approved to help inspire Pharma to develop drugs for rare diseases.

A rare disease is defined by the FDA/USA as a disease that has an incident rate of 1 in 1,500 births. Sanfiippo Syndrome type C has an incident rate of 1 in 1,500,000. If you had a drug company which disease would you choose to create a treatment for? By the way there are 7,000 rare diseases to choose from. This is a problem!

An Uber Rare disease needs even more incentives then a rare disease. Children like Jonah should not be punished because they have a disease that is too rare to make huge sums of money off of. Jonah has a terminal illness. He could die in his sleep or he can carry on like he is for another decade. Again he should not be punished for having a disease that progresses too slow to follow during a typical clinical trial.

We must adapt the measurements that the FDA uses to approve drugs, to measurements that fit the disease. Evidently, I complained about the injustice of our situation to the right people. I got a call from the FDA a few weeks ago inviting me to present my thoughts on how I think things could be done better. I told the agency that I wasn’t going to sugarcoat my speech. I was surprised to learn that the organizers also read my previous blog and they still wanted me. The date of the meeting hasn't been publicly announced yet. But when it is announced I'll share. You can come in person or stream it live, our rare disease community needs your support. The FDA runs on tax payer dollars, they want to know that you care too.

There is so much work to be done. I look to Jonah and our families for motivation. Jonah is doing incredibly well, he is a miracle. I admit we're greedy, we want many many more good days with our son.

The Cure Sanfilippo Foundation created a very successful Giving Tuesday FaceBook holiday fundraiser, JJB and HANDS joined in, together we raised over $130,000 for Sanfilippo research.

I’m forever thankful to all of you that donated in honor and in memory of our kids. It’s a huge relief to know that we still have people supporting our efforts. It’s been a long hard battle and it will continue to be so.  We need you. https://curesanfilippofoundation.org/meet-the-families/jonah/DONATE HERE
I was 1,250 shy of making my $5,000 goal.  #MoreGoodDays

With a great big hug And a kiss from me to you

I had written a blog a couple of weeks ago and never posted it. During the time that it took me to write the blog,  several children from our community had passed. The subject matter of the blog no longer felt appropriate.

I cashed in all my frequent flyer miles to attend one funeral. There were three that weekend that I know of. 

Kirby

Kirby Wilson, the foundation in her name is called The Children’s Medical Research Foundation- Cure Kirby. I never met Kirby or her parents in person. The Wilson family was on the front lines of raising funds for research for Sanfilippo, they have been in this space for 20 years. Kirby had type B and was 28 when she passed. At the time of Jonah's diagnosis, There were three foundations that were raising huge sums of funds for research. Ben’s Dream, A life for Elisa and Cure Kirby, Ben, Elisa and now Kirby have all been laid to rest. Their legacy lives on forever in a cure,

I mentally prepared myself Kirby’s service. I wasn’t going to let it bring me to a whimpering puddle on a hard pew. Kirby’s older sister Maggie, gave an eulogy that could have destroyed my emotional wall of self preservation. It’s been a few weeks since the services and I’m ready to reflect.

Maggie told two stories about Kirby that resonated within me. Maggie a sibling and me a mom, I still made the connection at the same level.

Maggie was a bug girl she loved searching for bugs: collecting them, analyzing them, adoring them. This was her thing, so much so that her nickname was bugs. Family vacation came around a camping trip, Maggie’s bug paradise. Maggie’s first find was a scrumptious, brightly colored, fat and furry caterpillar. It was also Kirby’s first smash.

Life just isn’t worth living if you can’t give second chances.

A few years later Maggie and Kirby are at the zoo with Kirby’s caregiver. The caregiver suggested a trip through the exotic and rare butterfly exhibit. I feel Maggie’s inner warning… this could be a really really bad experience or it could be magical.

I imagine what’s going on in Maggie’s head. She’s listening to the debate bouncing from shoulder to shoulder. Who's talking now? Is this the devil or the angel?

Left side: “Oh but it will be beautiful, you will love it, Kirby will love it. A memory that you will have forever, a sisterly bonding experience. It’s such a beautiful day anything bad that could happen will be outweighed by the good.”

The other entity on the right shoulder say’s: “Remember what happened last time? You thought the same thing.”

The other voice: “But it’s been years, Kirby has matured. Give her the benefit of the doubt! People change. Kirby used to love bananas, now she hates them. It will be fine, what’s the worst that can happen?”

Putting myself in Maggie's shoes and reasoning to myself: I know that Jonah is safe, no sharp edges to fall on, or cliffs to fall off of, and no ponds to jump in. Furthermore, I can probably stop Jonah from grabbing a butterfly, they’re fast and can fly away. I’m assuming that there won’t be any caterpillars creeping around where Jonah would notice them. Check the boxes: Jonah is rested, he is fed and he doesn’t have to go to the bathroom.

Worst case scenario Jonah runs through the exhibit without admiring it; pushing past people who give us judgmental looks. We’re good, it will be fine you tell yourself.

Unfortunately for Bugs and her bugs, there were caterpillars within smashing distance. GAME ON!  Must-smash-all-caterpillars at-all-cost! BTW there is no cost for a Sanfilippo child, it’s the same for the Incredible Hulk. See bug smash bug. Go ahead and try reasoning with The Hulk, I'll meet you at the car.

In closing Maggie said that the rare butterflies became even rarer that day.

Bummer.

Lead with comedy and follow with a tear jerker. Kirby’s thing was to sing the Barney song at meal time. Breakfast, lunch, or dinner, at home or in public. Everyone gather around the table, hold hands and sing:

I love you, you love me
We're a happy family
With a great big hug
And a kiss from me to you
Won't you say you love me too?

I love you, you love me
We're best friends like friends should be
With a great big hug
And a kiss from me to you
Won't you say you love me too?


The mourners shyly broke into song, it was deeply touching.  It’s impossible for me to not vision Jonah’s services. For Jonah’s day, all together now!

We all live in a yellow submarine
Yellow submarine, yellow submarine
We all live in a yellow submarine
Yellow submarine, yellow submarine
And our friends are all aboard
Many more of them live next door
And the band begins to play
We all live in a yellow submarine
Yellow submarine, yellow submarine
We all live in a yellow submarine
Yellow submarine, yellow submarine


I offered Sue my condolences and she hugged me tight, surprised and happy to see me. I introduced myself to her friends and family members as just another Sanfilippo mother inspired by Sue. All the Sanfilippo parents in attendance introduced themselves the same way. It was a theme. My feelings hurt, I thought this is going to be me. Meeting parents that I had never met in person before, greeting me with a open armed hug and thanking me for all my hard work. I was ready then to go home and hug Jonah. This isn’t supposed to be how it goes. Parents should not have to mourn their children.

I haven’t dared to scroll through FB and count how many children have died in the last 8 weeks. I personally saw two and that was enough. Rumors were flying that we lost 9 Sanfilippo children. Winter hasn’t even hit yet. What constitutes as an epidemic? If 9 kids died in a few months time of e coli, what do you suppose would happen?

The second child that popped up was Ross. Ross’s parents posted a picture of their beautiful sleeping son, his checks were flushed and I could feel the heat rising from him. Other then that he looked healthy. His parents said the door was open for friends and family to stop by, to say goodbye. Ross was 11.

The previous day we attended a fundraiser for Connor, Connor was diagnosed at 10. A client of  Connor’s dad mentioned that his son was autistic, but that wasn’t the umbrella disease. He had recently had genetic testing and found that he had a rare disease. This conversation made Mike think about his own son, he was inspired to ask his doctor for another panel of tests for Connor. MPS IIIC came back this time.

Jeremy and I told Jonah that we were going to my friends party and there would be lots of kids. He asked if any of them were his friends. We told him that Connor was his age and the he’d  be his friend. There were a ton of people at the party when we arrived.

Jonah watched a heard of kids running hard and shooting each other with nerf guns. Jonah the tentative lion, eyeballed each kid in the heard searching for the weakest one. A boy Jonah’s age broke loose and walked into the club house. The kid wore glasses, Jonah sniffed him out. “Are you my friend?” Jonah asked.

The boy looked at us, smiled and shrugged his shoulders. With prompting Jonah put out his hand and introduced himself. We all made small talk until the boy with glasses noticed the nerf gun. He grabbed it, reloaded and politely excused himself. Jonah shook it off. We found a board game and two younger players to join us.

At school Jonah has found his tribe, zebras in a heard of their own. Jonah has learned to identify his tribe by their stripes: hearing aides, talkers, walkers, and glasses. Limps, diversions, scars and sweet slanted smiles. These are a few of our favorite things. When Jonah enters a new grassy field he searches for his zebra friends.

I had every intention of posting a blog before World Sanfilippo Day, which was November 16th but that didn’t happen!  I’m feeling terrible about that, please mark you calendars right now for November 16th. That will make me feel better. Check out this link for more information, there is a cute picture of Jonah on the landing page. https://curesff.org/worldsanfilippoawarenessday/world-sanfilippo-awareness-day-for-families/

Time just got away from me. Last week I ran to D.C. for an FDA workshop and from there I flew to TX to visit a clinical team at UTSW. Hopefully I can get that blog out.

GIVING TUESDAY is TOMORROW! Time flies. Please donate and help us save our kids. You can donate on the link as well.

This blog is dedicated to Ross and Kirby. As I mentioned several other Sanfilippo children have passed over the past two months. Please forgive me for not seeking out the names of these children. They are in my heart. For me to function and to continue to fight the fates of the living I must protect my mental well-being. I can’t cope when I see all the faces of our children dying one right after the other. I’m useless to our community when I fall into despair over all the deaths.

Happy Thanksgiving,
Jill

Ross