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

Control

Do you know the feeling of never getting used to something? Think about it. But if you have to think about it, you don’t know.


Imagine having something that you assumed you would always have in your life, like your legs. No trivial thing. Then one day they’re gone, just gone and you’re supposed to get used to that. You wake up in the morning, roll over and hoist yourself out of bed to face the day. Only to face plant into the hardwood floor. Damn, no legs dumbass, you say to yourself for the ten-thousandth time.


We’re pushing ten years since Jonah’s diagnosis and I’m still not used to my families new normal, I still face plant once or twice a week.

Do you remember my last blog? The dad that I talked about in my previous blog is out of the closet now, his name is Mike. He lives in PA and decided one day to drive to NY to meet me in person and soak in as much Sanfilippo as he could. He ended up crashing with us at our house and office for three days. He sat in the office, reading and asking questions, throwing ideas at me left and right. He tried to wrap his brain around what was happening. Not wanting to feel powerless he wanted to fight Connor’s fate. But how? Mike asked.


Everything he asked I had asked when I was in his state of diagnosis. People respond in different ways, Mike responded a lot like me: this thing, it just takes over you. I could see that Mike wanted to find a way to make peace with it and have some sense of control. It was unnerving to watch him, to hear him, I know this state. I also know that you can never recover full control of your life. You do what you can to keep yourself from going crazy.


Mike and his family are now prepared to tell the world that their son has Sanfilippo Syndrome and they are hell bent on saving his life. Help him (us) here. https://www.classy.org/campaign/connor-beats-sanfilippo/c242983


Like Jonah, Connor just turned 11, like Jonah Connor has the same subtype of Sanfilippo. For fundraising efforts for Sanfilippo Syndrome type C, I encouraged Mike’s family to support the Cure Sanfilippo Foundation. Jonah’s Just Begun has folded as a 501c3. The Cure Sanfilippo Foundation is now representing JJB’s MPS IIIC fundraising efforts. Meanwhile, HANDS continues to work together and are partnering with CSF.


Last fall I thought I was actually taking some control of our future. Jeremy’s show had been cancelled; we decided that it would be good for our family if he took some time off. Phoenix Nest was finally able to afford an office; for the first time I was able to give myself a modest salary. For 3 short months I thought things were going to stabilize and I’d gain some control over our lives.


Then Sean quit and our grant was subsequently frozen. I stopped paying myself, instead Jeremy and I paid the salaries of our employee’s. I knew the NIH would eventually get around to signing off on our new milestones. But when? Jeremy and I felt as if we had absolutely no control.  Biding our time and finances we waited. The funds were released last week, PN will pay rent and our employees on time this month and we can pay for cell banking! I’m relieved, but I’m not happy. I’m scarred and I’m scared. Once again, I was reminded of how fragile our lives are.

Wrapping up the previous blog. Jonah was accepted into a private school. Now this makes me happy. A new state of the art special needs school: 30 kids in all, no more than 8 students in a class, teacher, a teacher’s aide and para-professionals!

During the tour I tried not to get my hopes up. On the drive to the school I coached Jonah to introduce himself and shake hands with the principal. When we arrived, Jonah did just that and gave her his heart stopping smile. The tour began, the walls were lined with a stripe of textured tiles, giving the children something to touch as they walked down the hall. Encouraging children to go ahead and touch the walls!

Recess was on and we went out onto their roof deck play area. I saw him, another Sanfilippo child, he was running through the other kids. The children all cried his name and gave him high fives, his para playfully followed after him. The principal asked me what I thought. I blinked hard, trying to fight back the tears. I could hardly get the words out I wanted this school so bad. I said, “it’s perfect, but I won’t get my hopes up.”

The principal looked at me with a huge smile and said she had a spot for Jonah. She stated, “Jonah had me at Hello.”

The water broke from my clinched eyes.

You’re probably wondering about the other child with Sanfilippo… His parents aren’t active in the Sanfilippo community, I had only recently learned of him, my lawyer introduced us! Which makes me wonder, how many other Sanfilippo kids are out there living in NYC under my radar?

After Jonah’s school interview, we drove to JFK. I had a meeting scheduled with Alexey at his lab in Montreal. Alexey had updates on our research that he wanted to share. I took a video of our postdocs working in Alexey’s lab. I want all of you too see, that this is for real. Each one of these individuals are working on treatments for Sanfilippo Syndrome. Alexey’s lab is actively pursuing 4 different programs. All of these projects were initiated by the HANDS consortium and will continue to flourish with HANDS, The Cure Sanfilippo Foundation and others.



Notice in the picture, the dedication to Elisa Linton painted above us. The Sanfilippo Children’s Foundation commonly called “A Life for Elisa”, this foundation was founded in Canada by the Linton family. Sadly, Elisa has passed, her legacy lives on in many ways. One of which was an endowment to the Sainte Justines Children’s Research Center, to Alexey’s lab, many of these pos-docs are there because of the Linton’s endowment.




Sunday morning, I woke up to the news that Sophie Hamza, also 11, died suddenly in her sleep. The Hamza family are from Canada as well and have partnered with the Linton’s Foundation for fundraising efforts. Please take a moment of silence for Sophie and her family.


Our children mean the world to us. Many of us have sacrificed careers, time with our families, and endured unimaginable heartache. I hope that my readers take in the emotion here. Understand how committed we are to saving our children’s lives. Most of us with a child that is still alive today know that our child, like Sophie and Elisa might not live to see a treatment come to fruition. Yet we still continue to fight for the next generation of Sanfilippo children.


Jonah and Connor both celebrated their 11th Birthdays, our families will continue to fight for the rest of our lives. Thank you for helping us.

I'm actually looking at Jonah's growing cells!



Jonah's doctor took a biopsy and sent to Canada

As of late I have been so damn angry.

Jonah's last day of 5th grade.

As of late I have been so damn angry.

If only I had a secret tunnel from my apartment to my office so that I didn’t have to interact with anyone. This morning on my walk to work, I’m waiting at the intersection, an ambulance is trying to get down the side street. There are a dozen cars that have nowhere to go, the streets aren’t wide enough for them to go anywhere. The car at the front of the line is trying to park. She backed in and out, multiple times, meanwhile the other cars are blaring their horns and waiving at her to go. The ambulance is bearing down on everyone and she’s taking her sweet ass time to park. Because you know parking spots in Brooklyn are priceless. I walk up to the car and yell to the women, “Do you not hear the ambulance behind you?” She gave me a put off look and pulled into the intersection, letting everyone go. Her precious parking spot is more important than someone’s life.

There are those moments where I just can’t keep my damn mouth shut. For instance, earlier this week I yelled at a guy for throwing his garbage out the window. He laughed at me. Later that day I picked a fight with a man that someone like me should avoid at all costs. I wouldn’t feel so bad about it if I had not had Jeremy and Jonah with me. I may or may not come back to this story, I’m ashamed of what I did.

My anger, started with politics and red tape with the NIH and this current grant. I came very close to having to shut Phoenix Nest down because of the freeze placed on our grant. We had a primary investigator change on the grant that threw the NIH off, they were not happy. With just cause, this is one of their larger grants. I assume that it was controversial in that it went to a virtual biotech led by a mother with a BS in fashion and a BS in business management. The NIH can’t be biased against me personally, PN won the grant fair and square, the reviewers gave us an almost perfect score, the science and path forward was sound and rational. The NIH froze our grant until I could find a suitable PI replacement, I found our replacement a few months ago. Yet, the grant stayed frozen while the NIH found time to make new milestones for us, this is still in play. After begging they released enough funds for me to pay salaries, OH and subawards, through June. I anticipate that we will be back on track in the next week. This has been going on since February 4^th.  

The NIH does not have the staffing needs to see their programs through in a timely and seamless fashion. I don’t blame the NIH; I blame the system. I blame the people that put this system in play. I blame my friends, family and neighbors that don’t pay attention to what their choices are doing to their friend’s neighbors and family members. Everyone over 18 has the opportunity to vote.

The Hearing on: “Reauthorizing  Vital Health Programs for American Families” https://youtu.be/_gG9T8tKzqA  Really got to me and it should get to you too. These four proposed bills will affect every single one of us.

H.R. 776, the "Emergency Medical Services for Children Program Reauthorization Act of 2019"
H.R. 1058, the "Autism CARES Act of 2019"
H.R. 2035, the "Lifespan Respite Care Reauthorization Act of 2019"
H.R. 2507, the "Newborn Screening Saves Lives Reauthorization Act of 2019"

If you don’t think a rare disease or Autism will play a factor in your life and NBS isn’t a priority for you. Then turn your attention to H.R. 2035, we are all going to get old and many of us will get cancer, Alzheimer’s or some other debilitating, expensive and painful medical condition. Who’s going to take care of you? If you don’t pay attention it won’t be the government, your tax payer dollars are going towards the department of defense. Your insurance might cover surgeries, meds and other treatments. But who’s going to feed you your apple sauce and meds? Who’s going to wipe your butt, read to you and put you to bed?

The President’s Fiscal Year (FY) 2019 Budget supports the mission of the Department of Health and Human Services (HHS) by making thoughtful and strategic investments to protect the health and well-being of the American people, address the opioid crisis, promote patient-centered health care, strengthen services for American Indians and Alaska Natives, encourage innovation in America’s health care future, address drug pricing, advance regulatory reform, and focus resources toward proven and effective initiatives. The President’s Budget request for HHS proposes $95.4 billion in discretionary budget authority and $1,120 billion in mandatory funding to carry out the mission of the Department and to fulfill the promises made by the Administration to the American people.

https://www.hhs.gov/sites/default/files/fy-2019-budget-in-brief.pdf

President Donald J. Trump signed a $1.3 trillion spending bill on March 23, 2018 that includes a $160 billion boost in defense spending over two years, reversing years of decline and unpredictable funding.

https://dod.defense.gov/News/SpecialReports/Budget2019.aspx

95 billion is about half of 1.3 trillion. That’s what Siri said, I can’t count that high.

Both the DOD (The Department of Defense) and HHS (Department of Health and Human Services) fund numerous other programs related to their department agenda. For instance, the Department of Health and Human Services’ funds the NIH and the FDA. While the DOD funds the CIA and FBI.

Everyone knows what the CIA and FBI does, made popular by blockbuster movies and Trump’s antics. The FDA and NIH Food and Drug Administration and the National Institute of Health, on the other hand, not so sexy. You hear FDA and you think E. coli in your lettuce or measles outbreak at the school in the town 60 miles from your town and think phew, it’s not my town and I don’t eat lettuce, I’m safe.  The NIH… I’m surprised by the number of people that don’t know what the NIH is or does. The NIH saves lives. The NIH helps create treatments that will cure diseases forever and ever. You sense the anger here?

My point is to scare those that don’t realize that their VOTE matters not just to you but your entire family. For those that don’t have a pension, social security or savings If you get cancer and don’t have the cost to cover your care then it falls on your family.

I assume that a major argument would be that people believe that immigrants eat up our health care so that they should be shut out of the United States. This is the opposite of the truth. https://www.modernhealthcare.com/article/20180808/NEWS/180809934/study-finds-immigrants-use-fewer-u-s-healthcare-resources

I'm reading out loud to Mari, she's telling me to stop that I'm making myself crazy. I know I am. 'Besides, she says all the guys in the red hats are just going to say it's fake news.'

 

Personally, for my family and my MPS community we struggle on a daily basis for the care of our children. Jeremy and I fear what will happen to Jonah if he out lives us, who will provide for him? Imagine having three adult MPS children all of whom present as an elderly person with serious mental and health issues, all need full time care. You never get a break! Respite federal funding is almost non-existent. Since 2009 when this program was enacted only 37 states received at least one federal assistance grant, which equaled less than a million dollars a state. Last I counted there were 50 states, 10 years this program has been in existence and it’s still not benefitting 85% of the people that need help. It’s heartbreaking, some families decide not to use the services because the providers are so poorly trained that it’s unsafe to leave their loved one in the providers care. Jeremy reminded me of the jury duty service that I presided on years ago. A felony murder, two young women from a respite service provider attacked their client, an elderly holocaust survivor. They wanted her social security check, they didn’t get it, they found $27.00, they tied the women up and left her for dead.

The public-school system for special needs children sucks beyond belief. You can’t even imagine the lack of placement for our kids. In NY state you have to sue the DOE to place your child in a private school. We started that process years ago, spent a few thousand in the process, having to have Jonah evaluated out of our own pocket with a private neuropsychologist. Jeremy and I started touring schools, there are some good private schools out there, but you have to fight to get a placement it can take years. The schools we liked were an hour and a half bus ride each way. If Jonah had a meltdown, pooped his pants or got sick he’d half to wait hours before I could get out to him. Some private schools cater to severe behavioral issues, others to non-verbal autistic kids. We never found a good fit. 

Fortunately, our public school had a place for him in their 12:1 class, we have been pretty lucky up until now. Moving into middle school, even typical kids have to apply to schools. For Jonah there was only one choice. We got in… so we thought. It’s the last week of school and we’re told that Jonah wouldn’t be a good fit in the 12:1 class, since the children in that class we not make good peers for him, they fought with each other. Great…. And we hear this through Jonah’s current teacher not the school that accepted him.

 We might be able to get him into their ACES program, but we were supposed to have him take an ‘alternative evaluation’ test at the beginning of the year, it’s too late for them to open his IEP now. We applied anyways. I called the principals at both schools and the psychologists at both schools. Each person has a different answer. 

The principal at the new school promises me that Jonah will get into her ACES program. My principal, says "no they made a mistake, Jonah’s current IEP depicts that he’s not qualified."

I finally get the email address of the person that makes the final decision on who gets placed in the handful of ACES programs in NY. You can’t find this person’s name or # anywhere online, the ACES programs are a virtual secret. They’re designed to help children with moderate autism, downs syndrome etc. learn life skills. A perfect spot for Jonah and we’re only now hearing of the program. 

The ACES director calls me and states: “Jonah does not have a spot into the ACES program until I say he has a spot.”  

 She goes on to say, "I review the applications in which they were received, Jonah’s application was just sent in. “Furthermore, these spots are highly coveted, and she has a stack of applications.”

Jonah’s graduation was beautiful. The teachers gave him an award for excellence in art and design. Jonah was so happy to run up on stage and retrieve his award. It was and always will be a very special moment for Jeremy and I. Only one student out of the whole 5^th grade received that award, I’m sure it could have gone to a child with exceptional skills. But they gave it to Jonah, who is exceptionally talented in the nontraditional way.

So proud! Jonah gives the thumbs up.

Did you see this clip? https://themighty.com/2019/06/indiana-autistic-student-most-annoying-award/?fbclid=IwAR3ubvMyL0IUlclCZprbL7k0w-F1Z3NG7d3dqAMOhI2bS6BRvZAa9-uZB7Q

I was so outraged I called the super attendant of schools and demanded that all the teachers involved be fired and that Autism sensitivity be taught to the entire states school district. I wasn’t the only one who called, the school administrators took swift action, three teachers were immediately fired, the school principal is under investigation and they are implementing sensitivity training. YES! I’m so happy that people from across the country took the time to call and voice their anger. We can make this country great again, if we band together, to help one another.

Finally, I have been extremely discouraged on my ability to find a sponsor to commercialize the two drugs that we have licensed, gene therapy for IIIC and ERT for IIID. Not my ability really but the reality that we are too rare. Another large drug company has announced that they are trying to sell their MPS III programs that is currently in trial. If they can’t find a buyer, the drugs will just go away.

Recently a gene therapy drug was approved for SMA, a horrible pediatric disease, I was perked up by this news. There was a huge amount of publicity behind this drug, it is the most expensive approved drug in the world. There are people out there who don’t think a rare disease is worth the price.  Then I read the patient incident of this rare disease I in 53,000. Jonah’s disease is 1 in 1.5 million.

People don’t pray for me vote for me, vote for your family, friends and neighbors. Pay attention to where your tax payer dollars are going. Drones vs Humanity?

On my birthday, a newly diagnosed dad called me, he was in his car and he asked, “can I drive to your office and just sit there?”

He ended up spending two nights. I gave him a crash course in everything Sanfilippo IIIC. He hasn’t come out of the closet yet, so didn’t post any pictures of my Birthday, because he’s in them.

His son is two weeks older than Jonah and has the same subtype. He had been living under an Autism diagnosis since he was 5, that’s 6 years. One day this man’s client mentioned to him that his son was genetically tested, and they found that he had a rare disease. This sparked something in this dad, and he decided to ask his doctors to give his son another genetic test. Thinking maybe the science had evolved and maybe they might find something new. It did.

At my house, the dad sat with Jonah playing and reading to him.  He was in disbelief of how similar our boys are. I knew it would flip him out. Our boys’ mannerisms, questions, likes, and facial features virtually mirror each other. I asked him if he had seen Jonah in an interview would he realize that his son had the same disease?  He responded: “without a doubt”

We need more press, I know these children are out there, just like this boy they have been dx’d as autistic.

I fear that I won’t be able to convince a partner to commercialize our drug that we fought so hard to fund.

I attempt to bury my fears in work, reminding myself that so many people are helping and cheering for us. The Cure Sanfilippo Foundation have been very supportive and have helped restore my faith. Thanks Cara and Glen.

Now that I got this off my chest, I feel better. Going to bed now. Tomorrow is another day.

The Final Countdown

Donate to our GoFundMe Campaign The Final Countdown here

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

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

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

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

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

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

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

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

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

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

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

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

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

Jonah is a hero, always has been always will be.

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

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

It was also the best wake-up that Jonah has had, he’s been put under five other times. Sadly, the anesthesia and lumbar tap wiped him out! He could have slept for a week and he barely ate anything.

Ylva, Mom from Sweden, Me, Brian Bigger the scientists, Simon Jones the clinician, Lauri the program coordinator and Mom, Shelly from UK. Visiting our MPS IIIC GT site and making plans.

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

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

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

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