A disease or disorder is defined as “RARE” in the USA when it affects fewer than 200,000 Americans at any given time. Leo’s Lighthouse Foundation is a 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. On this Rare Disease Day - we are highlighting a very special person and a very special cause close to the hearts of everyone at 3x1. Our special guy is 2-year old Leo Morrison, Max Morrison's younger brother, and the son of our founder Scott Morrison and his wife Gracileia. At nine month's old Leo was diagnosed with a rare genetic disorder called Bainbridge-Ropers Syndrome, a spectrum disorder so rare that it was only identified in 2012. So rare, in fact, that to date doctors believe fewer than 200 children in the world have been diagnosed. Today, we sit down with Scott to chat about rare disease, the mission of Leo's Lighthouse and being a father to two little men. You can find links at the end of the article to support Leo's Lighthouse Foundation, and a couple of other organizations focused on addressing rare diseases. Can you walk us through what a rare disease is exactly? A rare disease is any disease with less than 200,000 people affected by it, and in our case, regarding BRS, there are less than 200, so our kids are considered ‘ultra-rare.’ The challenge of any rare disease, especially one that affects a population as small as Bainbridge-Ropers Syndrome does, is that there’s so little known about it. What happens when your child turns 2? What happens at 5? Is there a mortality issue? When do seizures begin? With a syndrome like BRS that was only classified six years ago, it’s up to us to organize our community, gather natural history information, and inform our Dr.’s and medical practitioners about what we’re up against. Rare disease is complex in a way that most other diseases aren’t. Ultimately, it's up to you, the parent, the advocate, to push your cause and inform, educate, and challenge the medical and research communities to do more, all the while caring for your child with needs far beyond anyone’s comprehension. How did you and your wife come to Leo's diagnosis? Leo was diagnosed at four months with hypotonia, vision issues and early signs of developmental delay. Leo underwent an MRI and a number of evaluations at New York-Presbyterian/Columbia University Medical Center. After tests came back inconclusive, we had a meeting with geneticist Dr. Wendy Chung. She advised us to undergo genetic screening, and less than three months later we received the fateful call. With this diagnosis, many of Leo's behaviors and characteristics began to make sense. What we weren’t able to fully appreciate were the unknowns. What were the first steps you took to defining what Leo's Lighthouse was to be and how did you go about making it happen? Those first few months were pretty dark. I didn’t know what to do. Gracileia was focused on making sure Leo was in 8-12 therapies a week, and I was trying to figure out how to make a difference - find some deeper meaning in all this. The first thing that jumped out at me was the lack of a foundation or not-for-profit that's mission was helping these kids. There was a community of 100+ families at that time, but most of them were simply trying to manage their day to day existence, and at that point, no one had been able to get the group together and start thinking about what to do next. Facebook Groups played an incredible role in bringing families together and allowing them to have a place to connect, share, learn and support, but there was little to no partnering with the research community and no funding. So, we started working on the first ever BRS Family Meeting. A Family Meeting in the rare disease community is when you get as many families together as possible and invite clinicians, researchers, Dr.’s, etc. to attend. In the simplest terms, you’re trying to raise awareness, educate one another, and lay the foundation for collaboration and support. With the help of the Simons Foundation, Columbia University, and an incredible group of Dr.’s (Wendy Chung, Stephanie Bielas, Jennifer Bain, Matthew Bainbridge, etc.) we were able to get 24 families to make the journey to NYC. BRS families traveled from as far as Norway, Poland, Brazil, the UK, Mexico, and Spain, with Leo’s Lighthouse Foundation playing host and organizer. From there we assembled an incredible Advisory Board, stretching far and wide, but all focused around changing the outcome for this tiny group of children. What has Leo's Lighthouse been able to accomplish so far? What do you hope to achieve in the future? Leo’s Lighthouse is dedicated to raising awareness, funding research, and making a difference in the lives of BRS children, so all of our initiatives support these pillars. The BRS Family Meeting serves our natural history research, allows us to partner with Simons Foundation to collect blood, DNA, and biobanking for BRS families, while we’ve also been able to fully fund our first research grant to the University of Michigan’s Bielas Lab. Leo’s Lighthouse held its inaugural fundraiser in NYC this past November, and we’re working with the University of Washington to hold a rare disease fundraiser in Seattle this May. We’ve also been able to get the biotech giant, Regeneron, to collaborate with University of Michigan’s Bielas Lab, which is nothing short of incredible since they are currently the only two researchers in the world working on ASXL3 mutations. It’s been an incredibly busy nine months, but we’ve accomplished a lot in a very short period of time. How has becoming a father changed you? Being a father is the best thing I’ve ever done (aside from marrying my wife). Being a father is a challenge on a level I never thought imaginable, especially with a special needs child, but like most fathers out there it brings the realization, like it or not, that the world is far bigger than yourself, and you’ve now got these two incredible little guys that depend on you for not just a roof over their heads, but to make sense of the world, even when it doesn’t always make sense to you. The changes have all been pretty natural as I’ve become more patient, more empathetic, more appreciative. But I’ve also become more hypersensitive to the world around us and concerned with what our kids will have to deal with in the next 15 years. Being a father, especially of a ‘rare’ child has given me profound perspective on life, seeing the big picture, realizing that time is precious and that there are times to tune out the noise. What advice would you give to families going through similar circumstances? Firstly, I’d say that you will get stronger every day. The very thing that scares you will become normal, and with that normalcy, you’ll be able to engage the world again - albeit differently, but you’ll find your way. Secondly, and I’ve embraced this in every way, you need to be honest with your friends, your family, your co-workers. Having a rare child is nothing to be ashamed of. Some of those people will be uncomfortable, they won’t know what to say, or how to act around you, but by being honest and forthcoming, you’ll also find an incredible support system, in many cases where you least expect it. Can you give us an update on Leo: Leo is now 26 months old, and he’s doing incredibly well. He’s doing many things we never imagined possible. He’s walking, he’s feeding himself, he’s able to communicate a lot of his wants and needs, and overall, he’s a happy little guy. He has no speech, but in January he started attending a special needs school and loves being around other children and having a few therapies each week in a different place than home. In a typical week, Leo receives 10+ therapies, ranging from speech, occupational therapy, physical therapy, feeding, and developmental. He loves his therapists, and with a lot of hard work, we’ve seen some incredible improvements. We know this will be a long journey for Leo, and there will always be something to work on, something to improve, but we’ll be there to support and encourage him every step of the way.To learn more about Leo's Lighthouse and donate follow the link below: https://www.leoslighthouse.org/ More places to learn and help: https://rarediseases.org/get-involved/donate-now/ways-give/
