The urgent mission to save children from the fatal and rapidly-degenerative disease Sanfilippo Syndrome must continue because the disease’s devastating effects never stop, no matter what else is happening in the world.
The meeting was originally scheduled to be in-person at the FDA’s offices in Washington, D.C. It was pivoted to a WebEx meeting to follow best practices in lessening the global spread of Coronavirus. More than 20 officials from the FDA’s Center for Biologics Evaluation and Research (CBER) and Center for Drug Evaluation and Research (CDER) participated.
The meeting focused on the results of the first-ever Caregiver PreferenceStudy for Sanfilippo Syndrome, which represents the input of 219 caregiver parents.
The meeting highlighted, based on the Foundation-led study, the need to include non-cognitive based endpoints when evaluating therapies for Sanfilippo, particularly for children over 2 years of age.
Additionally, the importance and value to caregivers of improving a child’s quality of life was emphasized with the CDER and CBER officials.
“Some quality of life improvements often cannot be measured via traditional IQ tests or other tests being used, explained Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “Things like the ability to swallow, the ability to walk, the ability to sleep through the night, pain and distress … the study showed that these all matter greatly to a parent.”
There was a good deal of agreement from the group on the findings of the study.
“CHANGE is coming thanks to those who participated in the meeting, as well as the many parents who participated in the study and the generous supporters of the Foundation that enable work like this to continue,” said Foundation President Glenn O’Neill. “Thank you, thank you!”
Thank you to Dr. Maria Escolar, RTI International, and Elise for important input and participation in the meeting. Thank you to all the parents who participated in the study, as well as the parents on the study steering committee.
Parents of children with Sanfilippo Syndrome are already managing a complex medical condition, which can be further complicated by illnesses.
The Center for Disease Control has compiled a list of resources about COVID-19 for people managing their own or others’ chronic medical conditions.
The information aims to address questions patients and caregivers may have about FDA-regulated medical products (drugs, biologics, devices), clinical trials, and COVID-19.
Finding treatments and a cure for Sanfilippo Syndrome is the mission of the Foundation, it partner families, and families of children with Sanfilippo around the world.
The Foundation is ardently continuing this mission on all fronts, including the science/research, advocacy, and fundraising to move projects forward, as much as possible during this time of Coronavirus.
“As every parent of a child with Sanfilippo Syndrome knows, when battling a rapidly degenerative and fatal disease, these suffering children can’t afford a pause or a slowdown of progress, so we are trying to minimize this wherever possible,” said Foundation President Glenn O’Neill.
Watch this 14-minute video update from Chief Science Officer Dr. Cara O’Neill, updating partner families, discussing the science/research impact from Coronavirus, and detailing the work Cure Sanfilippo Foundation is doing to keep the mission moving forward.
Stay safe, and thank you to the partner families, supporters of the Foundation, researchers who continue to work on Sanfilippo, and those working the front line to battle Coronavirus and those keeping essential services running for us all.
Are you a rare patient or caregiver with concerns related to the COVID-19 outbreak? Do you need strategies for coping, staying healthy, and reducing anxiety during this uncertain period?
NORD (National Organization for Rare Disorders, Inc.) is hosting a special webinar on Tuesday, March 31, at 2:00 p.m. EDT to provide guidance on living with a rare disease and maintaining your physical and mental health in the time of COVID-19. This webinar is perfect for patients, caregivers, advocates, and others.
The webinar will feature Dr. Marshall Summar, Chief, Division of Genetics and Metabolism, and Director of the Rare Disease Institute at Children’s National Hospital; Dr. Bernhard Wiederman, Infectious Disease Specialist at Children’s National Hospital; and Dr. Albert Freedman, Counseling Psychologist and rare parent.
Register for the webinar at: https://globalmeetwebinar.webcasts.com/starthere.jsp?ei=1295204
How to keep them occupied, learning, and physically active is on the minds of parents everywhere as we all practice social distancing. Maybe that’s you or someone you know.
We want to help.
You’ve done so much for the families of children with Sanfilippo Syndrome. Time to return the favor!
Here’s a list of 7 wonderful FREE resources to engage kids during this unprecedented period.
The Cincinnati Zoo & Botanical Garden is taking kids on a daily safari right from home. Live each weekday at 3:00 p.m. EDT, each episode highlights an amazing animal and includes a companion activity kids can do from home.
Learn to draw fun illustrations with famous children’s author and illustrator Mo Willems, known for the Pidgeon, Elephant and Piggy, and Knuffle Bunny series.
Day-by-day projects from Scholastic keep kids reading, thinking, and growing. Every day includes four separate learning experiences, each built around a thrilling, meaningful story or video.
The world is grinding to a halt because of Coronavirus. Except for one thing that continues at the same pace … time. And time is the greatest enemy to children with Sanfilippo Syndrome.
Coronavirus is impacting the Sanfilippo community on a few crucial and intertwined fronts:
1). research/clinical trials; 2). fundraising/financial; and 3). risk of additional illness for children with Sanfilippo.
The significant impact on the first two will undoubtedly delay aggressive progress to find a treatment or cure for this rapidly-degenerative disease, as well as experimental treatments for children. It’s happening already. The third adds increased worry and stress to parents already dealing with the worst imaginable diagnosis for their child.
Some of the ways that Coronavirus is impacting the Sanfilippo community:
Planned fundraising events in the immediate days are being evaluated to possibly be postponed or cancelled. Just a few days ago, the Abby’s Alliance 5K in Houston, TX, was cancelled.
Fundraising events in the coming weeks and months are in limbo as organizers wait to see the progress of the virus. Among those up in the air are the Super Eliza 5K in Columbia, SC, coming up in April, and other events in May and June.
The plan to launch a new viral video campaign in late March, hoping to raise over $1M for Sanfilippo research, has been put on hold because the time is no longer right, based on Coronavirus in the news.
In-person meetings with donors are being cancelled, postponed, or being conducted via other means.
Research and clinical trials, including enrollment of the Foundation’s sponsored clinical trial treating children to reduce inflammation in the brain, are being put on hold as facilities restrict access and continued concerns about travel exposure.
Meetings with regulators, such as the Foundation’s important upcoming meeting with the FDA, are being changed from in-person to virtual settings.
Research projects to be funded later in 2020 and 2021 being re-evaluated based on ability to bring in the funding needed.
Staff at institutions working on Sanfilippo, including the Foundation, are navigating the disruptions to their lives, such as state-mandated school closures, and how it impacts their ability to work.
Children with Sanfilippo Syndrome may be at risk for more severe complications due to conroovirus, particularly those in the more severe stages of Sanfilippo Syndrome.
One of the characteristics of Sanfilippo is that children tend to put all sorts of things in their mouth including their hands, which makes it more difficult to keep potential viruses away, particularly the younger more active children with Sanfilippo.
For families who have children that take immunosuppressive medications (ie prednisone, tacrolimus, mycophenolate mofetil, and others), please consult with your doctor about any precautions needed for your individual circumstance.
Information is quickly changing, so please keep updated on CDC website, and see helpful resources links below.
Like you, we wait to see how far and long the impact of Coronavirus goes. In the meantime, we will continue doing our best to keep the fight to cure Sanfilippo moving forward as fast as possible. We are also working on short term, and longer term impact strategies.
We believe that this pandemic has given many a new and “all too real” perspective on the stresses that come with worrying if your loved ones will remain healthy. It’s just a glimpse into what Sanfilippo parents face every day after diagnosis. We understand that you and your family’s health are the primary concern, as well as your finances. And these should be as these are two of our primary needs in life, and we are right there with you. We hope we ALL can get back to a “new normal” soon.
Through it all, we are incredibly humbled and genuinely thankful for you. Your support – past, present, and future – means everything to us in the ability to maintain progress against this disease. One of our taglines in the past has been “In It Together.” Well we are all truly “in this together” and we will get through it together.
We wish you and your families safety and health throughout these trying times. We truly appreciate you and thank you.
There are so many free resources available now in light of the pandemic. Here are just a couple that we enjoyed during our previous period of isolation.
One Sanfilippo family’s experience relevant to today’s Coronavirus concerns about self isolation
The O’Neill family voluntarily quarantined themselves for 726 days (4 days short of 2 years) a few years ago to avoid a common virus that would have made their daughter Eliza ineligible for a clinical trial that was her one chance at life. The family of four didn’t come in contact with any people directly, or anything people touched, for nearly 2 years.
Their story of isolation is unique and relevant at the moment as many people are wondering about voluntary and mandatory quarantines because of Coronavirus (COVID-19) and how to navigate living in isolation.
To help others thinking about isolation because of Coronavirus, to give some perspective, and to also raise awareness of Sanfilippo Syndrome, the O’Neills made themselves available to reporters interested in the family’s experience and strategies for managing work, school, children, etc. while in quarantine.
The O’Neills’ daughter Eliza has Sanfilippo Syndrome, a terminal, neurodegenerative disease like Alzheimer’s in children. Her only chance at a cure was participating in a clinical trial that uses a common virus to deliver the treatment. If a child has previously had the virus, they are ineligible for the clinical trial because their bodies would be immune.
There were no promises that she would get in the trial. But if she was exposed to virus before the trial happened, she would be instantly excluded. This was the O’Neills’ one shot at a chance for a different life for her. So they took the extraordinary measure of isolating themselves in their house until the clinical trial started and patients were enrolled to make sure she didn’t catch the virus beforehand.
They expected the isolation to last a couple of months. It turned into 726 days. From May 14, 2014, to May 10, 2016. During that time, Glenn worked from home, their son Beckham and Eliza attended school remotely, they continued specialized therapies for Eliza, they had food and supplies delivered to the house, and they made heavy use of technology to stay connected with family and friends. Glenn and Cara also operated Cure Sanfilippo Foundation and raised $2.1 million through a viral video (www.SavingEliza.com) to help fund research to cure Sanfilippo Syndrome, including the clinical trial.
For the third year, the Byers family has lead the WILLPower marathon and fundraising team to great heights at the 2020 The Woodlands Marathon, including a first-place finish the Charity Challenge.
The Byers family has running in their blood, each one of them loving to run, including 9-year-old Will, who has Sanfilippo Syndrome Type B. So taking on The Woodlands Marathon and using it as an annual opportunity to also raise awareness of and fundraise for Sanfilippo makes perfect sense for the Byers.
Team WILLPower has won the 2020 The Woodlands Marathon Charity Challenge. For the third straight year! Additionally, Will was the top individual fundraiser overall. And eight people on Team WILLPower finished in the top 20 of fundraisers. Altogether, that earned Cure Sanfilippo Foundation a $5,000 bonus from the 2020 The Woodlands Marathon Charity Challenge.
Will’s first-place finish came down to the final minutes, with him securing the lead by only handful of dollars.
“When I tell you that EVERY dollar donated in this Challenge matters, I mean it,” said Valerie Byers, Will’s mom. “Look at that slim margin between 1st and 2nd…this competition gets fierce in the last minutes and we were able to hold strong thanks to all of you!”
The family also participated in the 2020 The Woodlands Marathon races. Valerie laced up for the half marathon. Will and his dad Tim completed the 5K Kids Fun Run with other WILLPower Team members. And Will’s younger sister Samantha was commander of the WILL Power Cheer Tent along the marathon route, inspiring the runners to keep going.
Why do the Byers do this and many other fundraising events each year? Valerie explained in a recent Facebook post on the anniversary of the day Will was diagnosed.
Five years. We’ve now known for 5 years that our son has a terminal condition. That he’s dying. Will is 9 years and 8 months old. We officially have more memories of life with Sanfilippo than of life without it. And that, frankly, sucks. A lot.
We’ve been through a lot in that five years. We’ve rejoiced at being included in a clinical trial. We broke anew when that clinical trial was cancelled. We thrilled at the experiences of a Make-A-Wish trip while simultaneously crying over the fact of why we qualified for it. We were terrified as a sudden and unexpected bout of pneumonia nearly collapsed our son’s lung and then marveled as he mustered the strength to heal. We’ve been strengthened by meeting and connecting with other families only to fall to our knees in tears when their children pass. We’ve screamed and sobbed at old videos where we can hear our child’s voice speaking words and sentences and paragraphs clearly and meaningfully while we currently desperately grab on to any and all utterances he now makes; every beautiful syllable and sound. We grieve for all the dreams we gave up for him, for our family, for our future…but we then find what he can do, what we can do together, and we make new dreams and focus on the miracles that happen in the now and don’t worry about what is to come.
We persevere.
And that’s why we run, why we fundraise. But it’s something we CAN do. Will loves to run and is still capable of running. Ok, how can we use the activity he is able to do and enjoys to do in order to make a difference? We can use it to raise awareness, to raise funds, to push research, to build Will’s legacy. Since Will’s diagnosis, we have often been asked WHY we fundraise. During his time in the enzyme replacement clinical trial, we would be asked, “Why do you need to fundraise if he’s getting treatment?” The answer was a multitude of reasons: because even if the drug works, there’s still a million expensive steps to get it to market; because rare disease gets no funding to expand on this trial; because this trial is not a guarantee, it may not work. Because this trial could be cancelled.
And it was.
It was devastating, to be left again to just sit back and watch our son decline with no intervention. After his trial, we were again asked, “Why do you need to fundraise? Do you think something will come in time for Will to benefit from it?” Again, the answer was a multitude of reasons: because rare disease still doesn’t get funding or attention; because research takes money and you have to start somewhere to get to clinical trial and a viable treatment; because right now there’s NOTHING for him, but what if our fundraising did help create an opportunity for something, anything? Because if we leave the status quo as it is, then nothing changes. Because if we want change, we have to work to create it. Because if we do nothing, then there is nothing. Because if we do something, then maybe there’s a chance, however slight. We’re just working for a CHANCE.
And not just a chance for Will. Here’s the thing. Most children with Sanfilippo Syndrome? They look like each other. Medically speaking, they have a specific facial phenotype that is characteristic of the disease. Personally speaking, they look like cousins. They look like our child. We see Will’s face in their faces. The face that we love so much is shared by so many. We love them. We love them like our own because in a way they ARE our own. They are our children too. So we fundraise for them. Because the kids born now, the babies born next week, next month, next year…they deserve a chance just as much as Will does. And if Will and our family can help give them that chance, then we’re going to do it.
So that’s why we run these crazy races and ask for your support each year. Because we love hearing Will’s name called as he crosses the finish line because it means he’s still here.
He’s still running.
He still has a chance.
So we continue to do our part to help create that chance, for him and for all of the faces in which we see his smile reflected. Thank you for standing next to us, shoulder to shoulder, as we work towards making these dreams realities for our children
Levi Ormeroid’s family hosted Strike For A Cure, its first-ever bowling fundraiser in his honor, this past weekend to benefit Cure Sanfilippo Foundation and the event was a massive success. The sold-out event raised more than $7,000 which will help accelerate research to find a treatment or cure for Sanfilippo Syndrome.
Levi, 21, has Sanfilippo Syndrome Type C, and competes annually on the local Special Olympics bowling team. His family decided to turn his enjoyment of the sport into an awareness and fundraising opportunity with the 2020 Strike For A Cure.
“Levi had a great time bowling and being part of all the excitement!” said Christi Ormeroid, Levi’s mom. “We are so thankful for all the support we have had over the years since Levi’s diagnosis.”
Fox6, a local television station, stopped by to help spread awareness of Strike For A Cure by featuring the event.
In addition to bowling, the event had a large silent auction featuring items such as sports memorabilia, recreational equipment, artwork, and sumptuous gift baskets.
As her family attended Ash Wednesday Mass today, Valerie Byers thought about what it means to welcome families of all kids, including those with young and boisterous children and those with special needs. The power of including them when they often worry of being unwelcome.
Her son Will has Sanfilippo Syndrome, a terminal, neurodegenerative disease that is similar to Alzheimer’s disease, but in children, and it makes public outings different than what other families experience.
“I see you, parents of little kids and parents of kids with special needs. I see you hesitating to go to church because your kids are loud, unruly, unpredictable, and just straight crazy sometimes. I see you worried to disturb others and wondering if it’s worth the stress you’re going to put yourself through.
Well, listen. If you want to go to church but the only thing holding you back is being worried about their behavior, stop worrying. Because believe you me, there is NO way your children could ever be as much of a disruption as this ‘full of joyful NOISE’ child right here.🤪In fact, come to church with us and my child will drown out anything your child says or does, lol!
Seriously though, little children and children with special needs should be welcomed fully as part of their faith communities. Thankfully, we have been mostly fortunate in that respect. If a parent commits to bringing a child to a church service, even knowing the stress that decision entails, they deserve support. So if you are at a service and see someone struggling to keep their child quiet or still, please don’t judge them or give them irritated looks. They are fully aware of what’s happening, TRUST ME. Instead, smile or offer words of support. Tell them you are happy they are there. Because you should be. Church is where all should be welcome, especially loud, joyful bundles of energy with pure souls like this guy.”
The world is grinding to a halt because of Coronavirus. Except for one thing that continues at the same pace … time. And time is the greatest enemy to children with 
“I see you, parents of little kids and parents of kids with special needs. I see you hesitating to go to church because your kids are loud, unruly, unpredictabl