The community of Rome, New York, turned out in the hundreds for the third annual My Pal Spencer Fundraiser and raised a record $86,522, benefiting Cure Sanfilippo Foundation and supporting medical research to help find a cure and create pathways to more clinical trials for Sanfilippo Syndrome.
Spencer Smith, 5, is the grandson of a Rome, New York, family and has Sanfilippo Syndrome, Type A.
The annual fundraiser was an incredibly inspiring evening with touching speeches, an entertaining live auction, and hundreds of Sanfilippo children represented by displays at each table.
“The tremendous kindness, love, and generosity from the Rome community and sponsors, as well as the dedication of the volunteers, make this event such a huge success,” said Glenn O’Neill, President & Founder of Cure Sanfilippo Foundation and father of a child with Sanfilippo, who was present. “All in honor of Spencer and the mission to cure Sanfilippo. Thank you, Linda and team, for all you do!”
Supporters of Spencer, on his maternal (Hinman) and paternal (Smith) sides, have now raised close to $1 MILLION dollars in just two-and-a-half years. Simply amazing.
“On behalf of all the families with Sanfilippo, we have so much appreciation and thanks for just how much they have done to move the research needle forward!” said O’Neill.
The Hinman family, grandparents to Spencer, expressing their thanks to the nearly 300 supporters in attendance at the annual fundraiser.
Rare as One invites patient-led 501(c)(3) organizations focused on a rare disease to apply for a two-year funding opportunity to develop and launch innovative collaborative research networks in partnership with clinicians and researchers.
On July 22, we submitted the application. We feel its a strong application with brilliant new ideas from our Scientific Team.
“This would be huge awareness for Cure Sanfilippo Foundation‘s mission and Sanfilippo Syndrome as a whole,” said Glenn O’Neill, President, Founder, and Father of Eliza (Type A).
“Thank you to the Chan Zuckerberg Initiative for venturing into this rare disease space and realizing the urgent and unmet need for this large community.”
In late August, invitations will be sent to selected organizations to submit full applications.
Cure Sanfilippo Foundation signed-on to a letter to U.S. Senators Bill Cassidy (R-LA) and Mark Warner (D-VA), voicing our strong support of an amendment to facilitate value-based payment arrangements (VBAs) in commercial markets as part of the U.S. Senate Finance Committee’s forthcoming legislation related to prescription-drug pricing.
The letter, led by the Council for Affordable Health Coverage (CAHC) and co-signed by 14 patient-advocacy organizations, encouraged the Senators to include the VBA amendment.
“VBAs that link payment for medicine with patient-centered outcomes are one tool to help lower costs and promote value over volume. Public and private payers should be provided with multiple options for coverage of these transformative therapies,” stated the letter.
Joining other patient-advocacy organizations, including partner Jonah’s Just Begun, in signing on to the letter demonstrates the wide-spread, patient-community support for the ability of VBAs to help with lowering out-of-pocket costs and improving care.
Update: July 29, 2019 While the amendment was not get included in the final legislation passed out of Committee, Cure Sanfilippo continues supporting efforts for value-based arrangements to be included in the final bill language that goes to the Senate floor in the fall. Additionally, we are supportive of the House introducing a standalone VBA bill later this year.
Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease’s complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver’s experiences change and evolve as patients age. The burden and impact on caregivers’ quality of life is poorly defined and best-practice guidance for clinicians is lacking.
A group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians. Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, was among the advisors. As a mother of a child with Sanfilippo, Cara brought first-hand caregiver perspective to the collaboration in addition to scientific and medical expertise.
The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. They co-authored recommendations based on findings from qualitative and quantitative research, which were recently published in the Orphanet Journal of Rare Diseases.
The article’s authors report that:
“Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties.
Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.”
Additionally, the authors call for changing the narrative associated with Sanfilippo:
“The panel agreed that the perceived aggressive behavior of the child may be better described as ‘physical impulsiveness’ and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members.
Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills.”
Helping the research, clinical, and regulatory communities understand the perspectives of caregivers for Sanfilippo children is a priority for Cure Sanfilippo. The fastest path to a cure is when researchers, clinicians, regulators, and patient advocates collaborate and align. Another way to the Foundation is working to amplify the caregiver voice and project it into the industry space is with its Caregiver Preference Study. Learn more about this initiative.
Understanding the economic impact of rare disease, as a whole, on all aspects of society is a critical need in order for public and private entities to make the best policies and decisions possible.
Cure Sanfilippo Foundation has joined with other patient-led rare disease advocacy organizations working to fill that gap by asking members of the U.S. Senate Appropriations Subcommittee on Labor, Health and Human Services, Education, and Related Agencies to include $1.5 million to its appropriations bill to study the economic and societal burdens of undiagnosed and untreated rare diseases.
Based in Columbia, South Carolina, Cure Sanfilippo sent the following letter requesting support to U.S. Senator Lindsey Graham (R-SC) who serves on the committee.
Abeona has launched AbeonaTrials.com, a website featuring information about its Transpher A Study clinical trial in Sanfilippo syndrome type A (MPS IIIA). The Transpher A Study currently is enrolling eligible patients as young as 6 months old.
The following additional information was provided by Abeona regarding its website, its Transpher A Study and Transpher B Study, and how it’s working to spread awareness of them to families with Sanfilippo Syndrome.
Click here or directly on the image for a downloadable PDF.
Henry was just a puppy when he met the love of his life. Blair was bright eyed and dark haired, just like him, and they bonded instantly. “Constant companions” would be putting it lightly.
So when things started to change for Blair because of Sanfilippo Syndrome, Henry was more devoted to her than ever. She needed him, through the seizures, through her body’s slow loss of every ability, even through the moment when she took her last breath. And he was there, standing guard and comforting her.
At the age of 14, Blair passed away on April 4, 2017. Henry misses her every day, but he also fights for a day when special bonds like theirs no longer end too soon because of Sanfilippo Syndrome. He’s hoping to raise $100,000 and has created a three-minute video sharing his story that you can see on his GoFundMe pagewww.HenryAndBlair.com.
When Blair and Henry found each other, their lives changed forever. Help Henry change the lives of other Sanfilippo children, to find a cure, by sharing his story and fight.
A terminal diagnosis for a child upends the lives of the entire family. Often, people’s thoughts, sympathies, and prayers go to the child facing a shortened life and the parents left wrestling fate. But there’s another person(s) who is deeply impacted, one whose life is never the same: the sibling.
The care – doctors visits, therapies, treatment regimes, etc. – required for a terminally-ill child creates a vacuum of time, resources, attention, and capacity in a family. Yet, the siblings rise beyond expectations. They become more mature than their years should require, caretakers for their brother or sister, know medical details of diseases and treatments better than most. And yet, they’re still children. Children carrying more than their fair share, but with intense grace, compassion, and love. They understand putting others first, sacrifice, selflessness, and the shortness of time. While often outside the spotlight, these siblings inspire everyone they meet.
One such exceptional sibling is Grey Chapin, 15, whose sister Blair passed away from Sanfilippo Syndrome in 2017 at the same age. She’s been in the “family businesses” of fundraising for research to cure Sanfilippo Syndrome since she was 6-years-old with her annual purple lemonade stand, which has raised more than $150,000 to date and is available as a kit for other families to host. Following Blair’s passing, Grey realized how integral her support network had been in helping her through Blair’s life and death. However, she found that there is a lack of emotional support resources for siblings of terminally-ill children, so she decided to create one.
Launched in spring 2018, The B.L.A.I.R. Connection is a place for siblings to connect with others as they experience the challenges of having a terminally-ill brother or sister. Because though every child with a terminal illness is Brave, Loving, Amazing, Inspiring, and Relentless (B.L.A.I.R.), so are their siblings. The site already features nearly 30 posts from 11 siblings, and Grey recently added a “Be Positive” Collection to emphasize the positive aspects of a child’s relationship with their terminally-ill sibling. And has plans for continuing to expand the site’s functionality.
Cure Sanfilippo Foundation had the chance to speak with Grey about her story and this new collection. Check out the Q&A with Cure Sanfilippo President Glenn O’Neill and Grey.
Tell us about yourself.
I am from Orlando, Florida. I’m a freshman in high school. I’m 15-years-old, and I really enjoy playing lacrosse and soccer. I play for my school team for both. And I love going to the beach, and I love playing with my two poodles, Henry and Hudson.
Tell us a bit about your sister Blair.
Blair was diagnosed with Sanfilippo Syndrome when she was 6-years-old. I was four at the time. Even as Sanfilippo took away her ability to do a lot of things, her huge personality always shone through. She was the sassiest person I’ve ever met. She’s hilarious. And she had, a smile that — I don’t know, everyone says this — but literally lit up a room. She loved jumping on our trampoline. She loved going to the beach. She liked holidays when the whole family would come over and it would be loud, and she loved watching Barney and all of her other shows and just being with us.
What are your earliest memories of Blair?
I definitely remember [the period] when she was saying words. I’m not sure if I completely remember when she was saying full sentences. I definitely remember that running around and wrestling and those kinds of things. We had this hallway in our old house all the way around the house and we would just run and chase each other around that. And I remember singing songs to her and having her, like finish the lyric.
You and your family have been advocating for research for Sanfilippo for a long time. Can you talk about some of that and your involvement?
My Dad started “Sing for Blair” five years ago or something like that. He started a GoFundMe and it got a lot of media coverage and a lot of celebrities sang for Blair. We got a lot of support from singers and artists and friends, which was really cool.
One of Blair’s old friends from preschool, Luke McMahon, started the “I Won’t Let Go” campaign where he actually wrote a song for Blair and made a music video to raise money for research.
The fundraiser that I’ve been most involved in is called Purple Lemonade. When I was six, my kindergarten class did a lemonade stand to save the manatees. If people would donate to save the manatees, then I could do something similar to raise money for Blair. So, that year we had our first purple lemonade stand, with purple representing courage. We started out very small that year, but we’ve had it annually ever since. Right now, I think we’ve raised over $150,000.
Tell us how and why The B.L.A.I.R. Connection got started. Where did this idea come from?
Blair passed away in April 2017 and, that July, I came up with the idea to start a sibling-support website. I, especially after she passed away, realized how grateful I was for the support system that I had throughout her life. We got to meet a lot of Sanfilippo families and I got to interact with a lot of siblings, but most siblings with a terminally-ill brothers or sisters don’t. My mom showed me the Courageous Parents Network, which is a support website for parents of kids with a terminal illness. I researched it and found there was nothing like this for siblings.
Is The B.L.A.I.R. Connection open to all siblings of children who have been diagnosed with any type of terminal illness?
Yes. The goal of the website is to help any sibling who has a brother or sister living with a terminal illness, just survived a terminal illness, or passed away from one.
Having something somewhere that people can at least read about other people’s experiences is one of the most powerful things. How has the response been so far to get submissions?
The site started in May 2018 – so not even a year yet – and about 11 siblings have written blogs, and some of them have written multiple ones.
I didn’t really have an expectation when I first started. I didn’t know how difficult it was going to be to try to get on a consistent upload schedule when, sometimes, people are taking a little bit longer to write a blog, or I can’t think of blog ideas, or I just can’t find a sibling that wants to write a blog. But the response has been pretty good.
The contacts in hospitals that I’ve made have confirmed the lack of sibling support. They’ve told me that they’re grateful to have a resource recommended for siblings. People recognizing that there’s a need for this resource in the terminal illness community has been really cool.
How did the idea for the new “Be Positive” collection come about?
I definitely understand the challenge of sitting down and writing a blog without any prompts, without any questions. So, I started a new sort of section of the website called “Collections” and each collection would go into a different topic.
I was hoping to make each topic sort of lighthearted. That’s why I started with this, the Be Positive Collection because it asks questions like, “What’s your favorite memory with your sibling? What’s your favorite activity to do with them?” This collection emphasizes the positive aspects of having a sibling with a terminal illness because sometimes it’s hard to find that.
It’s also helpful too; siblings want to contribute to the website, but don’t have time to sit down and write a blog or don’t know what they would write a blog about.
What are your plans for growing The B.L.A.I.R. Connection?
When I had the idea for the website, I wanted it to be more of a social-media type format [with the ability for siblings to directly connect with each other]. As I talked with the website designer and other people, I realized that that wasn’t very realistic. But it’s called “B.L.A.I.R. Connection” because part of the goal is to connect siblings and right now the website isn’t really accomplishing that because it’s posting blogs and they’re connecting [only] by reading each other’s blogs. They’re not actually being able to talk to each other or share experiences just with one another. That’s definitely a goal for the future, whether it’s a forum or some type of other way to connect.
The website has gotten a lot of traction, but I really want to focus on getting it honed to sibling viewers because that’s who it’s for. Then in the future, like way in the future, my goal is for a lot of hospitals and grieving centers and therapist to know about the website and to recommend it to siblings, too.
What’s this experience been like for you personally? How has it been seeing these other family stories that aren’t very different than what you’ve been through?
It’s more work than I thought it was going to be when I think back on it. I’ve spent so many hours working on this website, getting the website up, [and] e-mailing siblings, but it didn’t feel like work because I really have enjoyed it. It’s really rewarding.
Getting e-mails from parents who are on the website and saw it on Facebook and they say, “wow, this is really cool; My daughter could use this, I’m going to send it to her.” Getting those little messages or just putting up a blog at the end of the week has been really rewarding and made it all more than worth it.
It’s interesting to hear about other terminal illnesses because it’s so much different for Sanfilippo siblings compared to a cancer sibling. So, they might have a normal, pretty normal relationship with their sibling who has cancer because they haven’t had cancer all their life. My sister passed away from Sanfilippo and a sibling whose sister had cancer passed away; we can have a lot in common because, you know, we both have that grief in common. But it’s just an interesting to learn about how those experiences can be so different, yet similar also.
For those who read this, what would you like them to know about / call to action?
My only goal is just to help other siblings in whatever way the website could help them. I want them to use it that way. You, as a sibling, just to click on the link, read the blogs as they go out, or e-mail me to submit a blog, a photo, a drawing, a poem, or whatever it might be.
It will be really helpful to get the word out, too.
I really want to focus on getting it out to larger audiences and specific groups in need of something like this.
UPDATE – JUNE 2019
In June, Grey won first prize in the international competition for Future Problem Solving Program International in the Community Problem Solving category for The B.L.A.I.R. Connection.
Congratulations to Grey on this significant accomplishment.
Cure Sanfilippo Foundation is thrilled to announce that Katie Walton has accepted the position of Vice President of Marketing. Katie has been a key leader and volunteer for more than five years with the Foundation. Her expertise and insight has led to some of the core conceptual themes used by the Foundation, including graphics, website vision, birthday campaigns, marketing materials, and much more.
Katie’s story for the passion and interest in Cure Sanfilippo began while walking down the halls of Ohio children’s hospital in 2014:
“It all started with ear tubes for my four-month-old son. As I carried my son through the halls of Nationwide Children’s Hospital to outpatient surgery, I thought of the parents I was walking among, those shouldering unbearable burdens, and the thought of them never left me,” said Katie Walton. “Fast-forward two months later, I clicked onPeople.comarticle and learned about Sanfilippo Syndrome and the possible clinical trial at Nationwide Children’s Hospital. These parents were the kind I had been walking among, the ones I couldn’t forget because they could have just as easily been us. And if it were us, who would carry us? It would have to be the grace of strangers. Firmly believing that you have to put into this world what you hope to see out of it, I dove in to the fight to cure Sanfilippo Syndrome and remain more committed than ever. The ability to devote myself full time to supporting Cure Sanfilippo is an honor and personal passion.”
Glenn O’Neill, President of Cure Sanfilippo Foundation, stated: “We are extremely lucky to add Katie to our team. One of our continued challenges is spreading awareness for a disease few people have heard of and spreading this beyond the circles of the rare disease community. Katie brings not just passion, but many years of hands on experience in crafting messages and content to larger audiences. Katie will enhance our ability to professionally present and drive the Foundation mission, values, and accomplishments, in a customized way, to a variety of audiences via different mediums. This will lead to more engagement and more ongoing support, which is necessary to move our mission forward, faster; always our goal.”
Prior to joining Cure Sanfilippo Foundation, Katie worked for the Ohio Credit Union League, the state trade association for Ohio’s 250+ credit unions, for the past 15 years, including most recently as Vice President of Public Affairs. She oversaw all marketing, communications, public relations, and consumer awareness functions and served on the organization’s management team, providing strategic direction and leadership.