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
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?
Kids are home. Now what to do with them?
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.
— Cure Sanfilippo Foundation
Information on Coronavirus
- Center for Disease Control (CDC): https://www.cdc.gov/coronavirus/2019-ncov/index.html
- HealthyChildren.org: https://healthychildren.org/English/health-issues/conditions/chest-lungs/Pages/2019-Novel-Coronavirus.aspx
Activities for Kids
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.
Their experience has been featured in:
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.
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.
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
We love you, Little Buddy. We’ll never give up.
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.
See more pictures from the event on Levis’ Facebook page Levi’s Life, Love, & Laughter.
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.
She shared her powerful thoughts and encouragement on her family’s Facebook page, WILL Power: Our Journey with Sanfilippo Syndrome.
Read her post:
“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 poster presentation reported survey results on caregiver priorities for meaningful treatment benefits for Sanfilippo Syndrome. It drew heavy interest from the patient advocates, scientists, NIH and FDA staff, and industry partners in attendance.
METHODSThe study used the following methods:
- A Best-Worst Scaling (BWS) case 1 experiment was conducted via an online survey of caregivers of children with Sanfilippo syndrome.
- BWS methodology elicits preference weights for different attributes—in this study, features that represent the impact of Sanfilippo syndrome. Features were selected based on previous qualitative research which identified highly-valued treatment targets of Sanfilippo caregivers.
- Participants completed 12 choice sets to select features that they considered most- and least-important to address in the context of a non-curative therapy. Figure 1 depicts an example of a BWS choice set item.
- Subgroup analysis was conducted based on child’s age and caregiver ratings of their child’s disease-specific symptoms. Log-odds importance weights were estimated using random-parameters logit for age group (6 or younger vs 7 or older) and stage (early/mid vs later) based on symptom progression. Due to small sample sizes for Sanfilippo syndrome subtypes C and D, only simple scores (i.e., best-worst scores) were calculated for sub-type analysis. Cluster analysis allowed for estimates of a child’s disease stage based on a combination of caregiver-reported cognitive ability, self-feeding ability, and autistic behaviors.
RESULTSThe poster reported the following results based on insights from 164 caregivers of children and adults with Sanfilippo syndrome from 14 different countries who completed the Best-Worst Scaling item sets.
BWS Results by Child’s Age:
- Across both age groups, features with highest importance weights were having pain and unsafe behaviors.
- Hyperactivity and communicating “no” were significantly more important for caregivers of younger children. Trouble getting around, sleep, and unsafe behaviors were significantly more important for caregivers of children aged 7 and older.
- Pain and unsafe behaviors remained the most prioritized features across stage of disease.
- Caregivers of early/mid-stage children were significantly more likely to prioritize aggressive/impulsive behaviors, paying attention, feeling frustrated, and following directions than caregivers of later stage children.
- Caregivers of later-stage children prioritized trouble getting around, worry/anxiety, sleep, and sharing feelings, significantly more than caregivers of early/mid-stage children.
- Simple scores reveal caregivers of children with Type A and B similarly prioritized having pain, unsafe behaviors, and feeling unwell.
- For Type C, caregivers prioritized aggressive/impulsive toward others, not enough sleep, and having pain.
CONCLUSIONCaregivers’ relative treatment priorities reinforce the multi-symptom impacts of Sanfilippo syndrome.
The top set of prioritized features span several domains:
- Health: pain, sleep, and feeling unwell
- Behavioral: hyperactivity, unsafe and aggressive/impulsive behaviors
- Motor: trouble getting around
- Communication: communicating “no” and sharing feelings back-and-forth
Additional research targeting the rarer subtypes C and D may elucidate whether there are distinct treatment priorities of those caregivers.
This study provides insight into caregivers’ treatment priorities that will help inform development of therapeutics. Results here indicate that targeted, non-curative therapies that extend beyond global cognitive ability are highly valued by caregiver participants.
OUR THANKSThe Foundation is grateful to the parents of children with Sanfilippo syndrome for participating in this study. Additional thanks to the Foundation’s Advisory Committee for its valuable input and to BioMarin, Lysogene, Sobi, and Orchard Therapeutics for their kind funding support.
Contact UsIf you have questions about the Parent Prioritization of Meaningful Treatment Targets presentation, contact Dr. O’Neill at Cara@CureSanfilippoFoundation.org.
More than 20 years ago, Coach Lewia coached Spencer’s Dad, Nate, in wrestling. Today, Coach Lewia coaches the Wells High School Warriors Wrestling Team. And he was ready to do whatever he could.
Coach Lewia told his team of wrestlers about Nate, and that his son, Spencer, had been diagnosed with a rare and fatal genetic disease called Sanfilippo Syndrome, otherwise known as the Childhood Alzheimer’s. There is no treatment or cure YET.
Coach Lewia explained to his team that Spencer’s only chance at life was to raise money to fund the desperately-needed research and clinical trials to find a treatment or cure. And every wrestler was on board to raise as much money as he could.
The team saw the urgency and how much it meant to their coach, to help Nate’s family and Spencer. Without any hesitation, the high school students joined the race to save Spencer’s life.
AND THE WARRIORS AREN’T SLOWING DOWN
For a third year, the Wells Warriors wrestling team is dedicating its season to helping raise funds for research to cure Sanfilippo Syndrome. To give kids like Spencer back their future.
This past weekend, the Wells Warriors competed in the Regional Finals and won the Class B Regional Championship for the fourth time. Keeping Spencer front of mind as they have all season, the Wells Warriors head to the State Finals.
Support the inspirational commitment of Coach Lewia and the Wells Wrestling team to help Spencer. Make a donation to their fundraising campaign.
Happy Valentine’s Day!
Byers’ Family Cutout Cookies
3 cups flour
1/2 tsp baking powder
1/8 tsp salt
1 cup butter
1/2 cup sugar
2 tsp vanilla
1 cup powdered sugar, sifted
1/4 tsp vanilla
Milk (about 1-1/2 tbsp)
Sift together flour, baking powder in salt in a medium bowl. In a large bowl, cream together butter, sugar, egg, and vanilla. Add dry ingredients gradually to wet ingredients. Mix until everything sticks together and bowl comes away clean.
Roll out dough onto a floured surface to 1/8-inch thick and cut out. Place cutouts on ungreased baking sheet.
Bake at 350°F for 8 to 10 minutes. Check often to avoid burning.
To make icing, stir together powdered sugar, vanilla, and enough milk to make a drizzling consistency. Decorate cookies with frosting once they cool.
Super Simon’s Favorite Peanut Butter (Breakfast & Snack) Bars
1 1⁄2 cups quick-cooking oats
1⁄2 cup raw almonds (or walnuts)
1⁄4 cup sesame seeds
3 tablespoons chia seeds
1⁄4 cup hemp seeds
1 teaspoon ground cinnamon
1⁄2 teaspoon salt*
1 cup unsweetened, unsalted, creamy peanut butter
1⁄2 cup maple syrup, Grade A
1 teaspoon vanilla extract
- Line a 9-by-9-inch square pan with parchment paper with enough over-hang to cover bars completely.
- Grind oats in food processor or power blender for a few seconds until oats resemble course powder.
- In a large mixing bowl, add ground oats.
- Grind almonds (or walnuts) in food processor or power blender for a few seconds until nuts resemble course powder. Add ground nuts to large mixing bowl.
- Combine seeds, cinnamon, and salt with oats and nuts.
- In a separate smaller bowl, whisk together peanut butter, maple syrup, and vanilla extract until very smooth.
- Pour liquid mixture over dry ingredients and, using a wooden spoon, stir until evenly combined.
- Transfer the mixture to the prepared pan.
- Using the back of a wooden spoon or offset spatula, firmly press the mixture evenly into the pan.
- Cover by folding in the two shortest ends of the paper over the mixture, and then the two longest ends.
- Refrigerate for at least one hour or overnight.
- Gently open the paper and slice into 16 square bars by making three evenly spaced slices in one direction, and then three evenly spaced slices in the opposite direction.
- Enjoy immediately with your favorite beverage, or recover with paper and replace in the refrigerator for later. Bars may be placed in a glass storage container in the freezer for longer term storage.
Cooking Note: *If using salted peanut butter, use only 1⁄4 teaspoon salt.
Special Note: Super Simon loves his bar sliced into 16 tiny squares and then each gently rolled into balls, so he may easily pop them in his mouth one by one.
Recipe adapted from: Super-Seedy Granola Bars developed by Alexandra Caspero, MA, RD
Sarkar’s Apple Dip
8 oz cream cheese
1 bag Skor pieces
1 container carmel fruit dip
3 tbsp brown sugar
5 Granny Smith apples
Mix cream cheese and brown sugar together until smooth. Take mixture and put on serving tray, leaving a few inches around the edge. Melt caramel dip and spread over cream cheese mixture. Add Skor pieces as layer on top of caramel. Surround dip with applies and serve.
Want to share yours?
If you would like to submit a favorite recipe from your family for future sharing, please e-mail Katie@CureSanfilippoFoundation.org.