Leo’s Lighthouse
Benton Deacon + Drake Dominique Matheus Della
Leo’s Lighthouse
 
 

WE NEED YOUR HELP TO

FIND A CURE.

Leo’s Lighthouse Foundation is a 501c3 not-for-profit dedicated to making a difference in the lives of children affected by Bainbridge-Ropers Syndrome, ASXL3, and other rare genetic disorders.  Funding research, therapies, and family support programs are critical steps in changing each one of these children's lives for the better. 

Together we have an opportunity to do just that, and in doing so, ensure that their future will be far more promising than it is today.  Together we can make a difference and that starts now ...

 

Hi, my name is Leo, and I have Bainbridge-Ropers Syndrome ...

 
 
 
 
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Our Mission

The core mission of Leo’s Lighthouse is to find an effective therapy, and eventually a cure, for Bainbridge-Ropers Syndrome (BRS).  BRS is a result of an ASXL3 gene mutation, located on chromosome 18. ASXL3 is one of approximately 20,000-25,000 genes that make up the human genome.  BRS affects only a very small number of children in the world, but the results are absolutely devastating. 

The syndrome was only identified in 2012, and is typically characterized by "failure to thrive, significant cognitive issues, gross/fine motor challenges, seizures, and significant developmental delays."  The majority of children with BRS are also nonverbal and have difficulties with the simplest everyday activities like walking, sleeping, and eating.  These are just a few of the issues children and families with BRS face everyday, but there are other unknowns.  The oldest living BRS child we know of is 25, and the medical community simply doesn't have enough information about the syndrome to know if it’s degenerative, or worse, if there is an association to mortality. 

As with most rare diseases like BRS, advocacy falls into the hands of private foundations which are supported in great part by your charitable donations. Lack of awareness and limited access to research funding are the principal barriers for researchers interested in a rare disease like BRS.  This is where Leo's Lighthouse aims to make a difference.

  

Learn More

 

Making a difference

There are thousands of researchers investigating genetic mutations, disorders, and diseases, but less than a handful of them are currently working on research involving the ASXL3 gene mutation which causes BRS. Our goal is to finance research initiatives that will make a difference in the lives of these rare children and their families. This is done by partnering with and supporting those currently invested in BRS and ASXL3 research, and by gathering critical data on every BRS child, in order to provide greater understanding of the syndrome and provide more access to data among investigators and clinicians.

You and your financial support are critical to fighting Bainbridge-Ropers Syndrome, which depends almost exclusively on personal donations. 

 

#43

LEO WAS the 43rd child identified on the BRS Facebook page

The BRS Facebook community is one of the best support networks for parents and loved ones of people dealing with Bainbridge-Ropers Syndrome. Since the medical community is generally unaware of BRS, it was here where Leo's diagnosis and genetic test results were first shared, and only through parent-to-parent correspondence were the Morrisons able to start better understanding Leo’s disease.  

 

<300

DOCTORS BELIEVE THAT LESS THAN 250 CHILDREN ARE CURRENTLY DIAGNOSED WITH BRS IN THE WORLD

Unfortunately, there is no one data collection portal where all children diagnosed with BRS share their medical histories, so the medical community is left to guess how many children have been diagnosed. There are several groups currently working on a more accurate estimate, but the general consensus is that there are fewer than 300 known BRS children, making BRS one of the rarest diseases in the world.  These extremely rare diseases , impacting less than 200,000 are called 'orphan diseases' . Currently there are approximately 7000 orphan diseases in the world.

 
 

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DOCTORS BELIEVE THERE ARE THOUSANDS of children WITH BRS who HAVE YET TO BE DIAGNOSED

Only recently have the costs associated with genetic screening reached a level where more families can reasonably afford the testing. Subsidized costs will allow for more children to be screened, and ultimately diagnosed. With that, however, comes the reality that thousands more families may have children suffering from BRS with no previous diagnosis. Doctors believe that 1 in 20 Americans will know someone in their lifetime impacted by a rare genetic disease. 

 
 

Putting money where it matters most

Donations made to Leo’s Lighthouse directly fund pediatric research, therapies, and family support programs.  Leo’s Lighthouse is working with top universities, scientific labs, and other foundations to finance this invaluable research. Every dollar you donate goes towards initiatives we believe will have the most impact, all of which are focused on improving the short- and long-term quality of life for these children, and eventually, lead to a cure.

 

VANDERBILT university

We’re currently funding the development of ASXL3 Anti-bodies at Vanderbilt University. These anti-bodies are necessary for rare disease investigators to get a head start on their BRS/ASXL3 research, and are an integral part of an ASXL3 ‘Scientific Tool Kit’ that we expect to complete in 2020.

 

Columbia university

Dr. Wendy Chung is one of the world’s leading human geneticists and the director of the clinical genetics program at Columbia University, a co-director of the molecular genetics diagnostics lab, and head of a research laboratory in the division of molecular genetics investigating the genetic basis for a variety of Mendelian and complex traits.

Dr. Chung created the TREATMENT program to study rare disease at Columbia University.  We began supporting her efforts in 2019.

simons foundation (SEARCHLIGHT)

The Simons Searchlight (formerly Simons VIP) was originally started to identify and study large numbers of individuals sharing recurrent genetic variants known to increase the risk of developing autism spectrum and other neurodevelopmental disorders. Longer-term goals are to use these data to develop targeted interventions and focused clinical care.

Leo’s Lighthouse has partnered with Simons Searchlight to promote data collection and assist research on ASXL3 and Bainbridge-Ropers Syndrome. Our goal is to get 100 BRS Families complete natural history information into the Simons Searchlight registry. Look for this ground breaking data to be published in 2020, in the meantime you can find more on Simons Searchlight results at gene.sfari.org.

More than 25% of BRS children and their families have joined the Simons Searchlight study. Please do so if you haven’t already! www.sfari.org Thank you! 

university of michigan

Dr. Stephanie Bielas runs the Bielas Lab at the Department of Human Genetics (University of Michigan Medical School). She is currently studying BRS and developing advanced modeling in efforts to provide functional and clinical relevance to a number of  neuro-developmental disorders.

Leo’s Lighthouse has begun funding Dr. Bielas’s lab, which is conducting research on inhibiting ubiquitin on histone H2A, which could possibly improve the quality of life someday for those suffering from ASXL3 mutations. 

 

BAINBRIDGE-ROPERS (BRS) FAMILY MEETINGS

One of the first steps in understanding a rare disease is to address the lack of information. Bringing affected families and researchers together in a setting like a 'Family Meeting' is invaluable. Individual and group research can be conducted, evaluations can be made, and critical information can be shared among doctors, researchers, advocates, and family members.  

Leo’s Lighthouse, in cooperation with Dr. Wendy Chung, Simons Searchlight,  and Columbia University, hosted the first BRS Family Meeting in New York City this July 2018.   24 BRS families were in attendance, from 6 countries, marking this the first official gathering of doctors, researchers, and BRS children ever and a significant moment in our fight against this disease.

The 3rd Annual BRS Family Meeting took place this summer at the University of California Los Angeles, in conjunction with the ASXL Conference hosted by the ARRE Foundation. For information on future family meetings, please email: scott@leoslighthouse.org

 
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Rare Disease

1 in 20 people will live with a rare disease at some point in their life.

rarediseaseday.org  Read Full Article

 

 
 

Participate

There are a number of ways you can get involved with Leo’s Lighthouse. Please help us find a cure for BRS, ASXL3, and other rare diseases by supporting pediatric research, therapies, and family support programs. Sign up for our bi-annual newsletter, attend one of our annual events in either NYC or Seattle, or make a commitment to help fund these initiatives with your invaluable donation. All donations are tax deductible except as may be limited under federal law. 

 

Sign Up For OUR NEWSLETTER

The Leo’s Lighthouse newsletter will be distributed bi-annually and will outline our  efforts to help children suffering from BRS, ASXL3, and other rare diseases.

ATTEND OUR ANNUAL GOLF TOURAMENT AND BENEFIT DINNER IN SEATTLE

Due to Covid-19, Leo’s Lighthouse was forced to reschedule our 2nd Annual Golf Tournament & Benefit at Overlake Golf Club in Medina, Washington (just outside of Seattle). We’re hoping to get things back on track in 2023. If you’d like to donate please feel free to do so, as proceeds from ticket sales and auction go towards funding BRS research. If you’d like to stay current with event updates, please email scott@leoslighthouse.org for more information. Thank you again for the support.

Make a Donation

Leo’s Lighthouse is a 501(c)(3) non-profit, and relies on your donations to fund research initiatives, therapies, and support programs for BRS, ASXL3, and other rare diseases.  Donate now to start making a difference for Leo and children like him. Donations are tax deductible except as may be limited under federal law.