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 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.
Hello to the International Leadership in the MPS III Community,
I write to you on this special day that has been designated for the global recognition and deserved focus on those living with or affected by rare disease. This is a wonderful opportunity to bring more light to the everyday impact that navigating the challenges presented by rare disease has, beyond the responsibilities of daily life. Given the focus of our research efforts, rare disease is quite constantly on our minds but providing this additional insight to our team has brought further meaning. Thank you to those who have shared your perspectives with us. The following is an update that comes after continued work with the 9 collaborating foundations for additional studies investigating extended populations of children affected by MPS IIIA and MPS IIIB.
This is a long message with the purpose of providing greater insight into the different MPS III ongoing and planned studies and other updates from Abeona. First, I’ll start with the news that João Siffert, M.D. has been appointed as CEO after serving as the interim-CEO for several months. For the time, he will continue to serve also as head of Research and Development and Chief Medical Officer until those roles can be filled.
Next, I’ll elaborate on items we have shared previously and summarize notable updates for the ongoing and planned studies for the investigation first of MPS IIIA programs and then MPS IIIB.
ABT-001: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA Our team met with both FDA and EMA regarding the progress to date on ABT-001, and it was decided that the eligibility criteria in ABT-001 Phase 1/2 study will be modified to enroll additional patients with greater function or who have experienced less neurologic decline. The listing in clinicaltrials.gov for this study is now revised with the following modifications. Those interested or with questions should contact their child’s physician to determine eligibility.
Inclusion criteria has been adjusted to include Age 6 months to 2 years or children older than 2 years with a minimum cognitive DQ of 60 or above calculated by Bayley Scales of Infant and Toddler Development
Total number of anticipated participants adjusted from 16 to 22. This means we are continuing enrollment across sites for a total of up to 8 more participants in Cohort 3.
Study completion date changed to Dec 2021 (from Dec 2020) to account for additional participants
Exclusion criteria has been modified to account for:
Previous treatment by HSCT or participation in gene/cell therapy or ERT clinical trial
Any vaccination with viral attenuated vaccines less than 30 days prior to scheduled date of treatment
Subjects with positive response for the ELISPOT for T-cell responses to AAV9
In addition to a primary outcome of safety, the change from baseline in the Age Equivalent Developmental Score (MSEL or Kaufman) compared with natural history study data will be measured
Additional secondary outcomes have been incorporated which include:
Change from baseline in the Cognitive Age Equivalent compared to natural history study, calculated using Bayley Scales of Infant and Toddler Development
PedsQL total score
Parent quality of life, using a tool called the Parenting Stress Index
Analysis in plasma, saliva, urine, feces of vector shedding
For outcomes already listed on ct.gov – change to 24 month timeframe (currently lists 12 months)
ABT-003: Additional Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA and have further disease progression As a result of the changes outlined above, we have adjusted the additional planned trial, ABT003, to complement ABT-001 and to investigate the effects of ABO-102 in eligible patients with more progressed or increased neurological impact of the disease.
Enrollment criteria to complement upper limits for ABT-001 for no eligibility gap between these two studies
Inclusion/exclusion criteria and number of participants are not yet available for release
Protocol submission to regulatory agencies is imminent for Spain, Australia, and the United States
In parallel, preparations with sites in Spain, Australia, and the United States are well underway and will be limited to these countries
Currently, it’s not certain which country will be ready first but we will not wait for all three to initiate enrollment
More information will be provided as available
ABT-002: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIB This study is still early with participants with safety as the highest priority followed by getting data to inform on dose. There have been recent updates to the clinicaltrials.gov listing for this study, summarized below:
Updated Responsible Party and main contact as Abeona
Added exclusion criterion of treatment with prior ERT
Modified age criteria for enrollment to 6 months and above
Removed secondary endpoint of change in brain volume by MRI
Added Spain as an active clinical site
Efforts continue to initiate sites in UK, Germany, and France
Thank you again, as I realize this is a large amount of information. Lastly, I’ll be using this format for sending group emails in order to provide people with the option to unsubscribe should they choose to no longer receive updates from Abeona.
It has been a few months since our last update. I apologize for the delay. I will start by saying that in rare disease research, there are often speed bumps and unanticipated hurdles toward getting to a point of clinical trial for children. Often this can push timelines back to a point where decisions have to made about what is the best use of funds, particularly with a rapidly neurodegenerative disease like Sanfilippo Syndrome.
Thank you for your incredibly generous support of the Saving Carter campaign, with all donations directly received by Cure Sanfilippo Foundation. The specific intent of this campaign was to further a direct path to clinical trial for children like Carter, who have Sanfilippo Type A and are age 6 or older. In the few current clinical trials underway, for the most part, only children younger than age 6 are being included. In looking at timelines and the projects in the pipeline, the Cure Sanfilippo Foundation Board has made the decision that there are better opportunities to get to a point of clinical trial for children like Carter, other than the original project planned. While this change was not anticipated, it was necessary and was made with the specific intent of your donated dollars. It is a positive step forward.
While we are under confidentiality clauses, we can share that thanks to your contributions, we are moving forward rapidly with two scientific Sanfilippo Type A programs which could slow disease progression and improve quality of life. These are now approaching the clinical trial readiness stage and offer the most expedient path to a treatment for children like Carter. When battling time, every step forward is a life bridge to the next promising therapy. We have discussed this with Jen and Samir Sarkar, and they are in full agreement with these new paths forward.
Again, our deepest thanks from the whole Sanfilippo community, for your incredible efforts to further research. Thank you for believing in this mission and as always, our thanks to the Sarkar Family for being core members of Cure Sanfilippo Foundation, in the fight to save children. We will continue to keep you updated.
Thank you, Glenn O’Neill President of Cure Sanfilippo Foundation
Jonah’s Just Begun (JJB) and Cure Sanfilippo Foundation are pleased to announce that they will be joining forces as they move forward with the common goal of finding a cure or treatment for Sanfilippo Syndrome.
Formed as a 501(c)3 in 2011 by Jill Wood and Jeremy Weishaar after their son, Jonah, was diagnosed with Sanfilippo Type C, Jonah’s Just Begun was created to support research, fundraising, and advocacy for treatments for both Sanfilippo Type C and Sanfilippo Type D. Due directly to the work done at JJB, clinical trials for both diseases are on the horizon.
As the Treasurer of JJB, Jill has worked tirelessly to drive innovation and change to further research for Sanfilippo clinical trials for children. One of her visionary accomplishments was co-founding Phoenix Nest in 2014, a biotech dedicated to finding treatments and cures for Sanfilippo Syndrome, where she currently works as the CFO. Going forward, Jill will retain her role at Phoenix Nest while Jonah’s Just Begun will now fall under the nonprofit auspices of Cure Sanfilippo Foundation. Further, Cure Sanfilippo Foundation will now be a member of H.A.N.D.S. (Helping Advance Neurodegenerative Disease Science), an international consortium of patient groups, scientists, and clinicians that work together to drive the science for Sanfilippo Type C.
Cure Sanfilippo Foundation was founded in 2013 by Glenn and Cara O’Neill after their daughter, Eliza, was diagnosed with Sanfilippo Type A. Cure Sanfilippo was formed with the mission to advocate for and to fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. The Foundation has raised $7 Million since inception to advance research and bring clinical trial options for Sanfilippo Syndrome.
Cure Sanfilippo President Glenn O’Neill commented, “We are honored to bring on both Jonah’s Just Begun and all of the support and remarkable history that comes with it. With JJB, we further our scope of research into all 4 types of Sanfilippo Syndrome (A, B, C & D). In the past, Cure Sanfilippo has funded smaller Type C projects and research that could help any subtype, but the focus up to this point has been primarily on Type A and Type B. This joining of forces is a perfect fit and puts us in a position to make an even bigger impact on the disease.”
Jill Wood commented: “JJB has been driving the research for Types C and D. Now, Types C and D and JJB/H.A.N.D.S. will get a big boost under Cure Sanfilippo Foundation, as they will help take some of our projects we began, to the next stage. We are combining forces to move therapies forward, faster. This is a great day for Sanfilippo.”
Cure Sanfilippo Foundation is a 501(c)(3) not-for-profit organization dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. Sanfilippo Syndrome, also called MPS III, is an inherited disease of metabolism that means the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (i.e., GAGs). A genetic defect passed on from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste. Over time, this waste builds up causing cells to act abnormally and then to die. Children with this genetic disease face a progressively debilitating and rapid decline in physical and intellectual abilities, leading to an early death.
For more information on the Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit www.CureSFF.org. Contact Cure Sanfilippo Foundation at firstname.lastname@example.org.