MAKING A DIFFERENCE
WHO WE ARE:
First, thank you for taking time to visit our page. We think it is important that we share a little of our story before we ask you to help us on our campaign.
We are the Chisholms, Robert, Sarah, Ella (10), Emma (8) and Eva (5) and we are long-time residents of Boca Raton, Florida (that's in South Florida sandwiched between West Palm Beach and Miami). Robert is a true native of Florida and was born and raised in Boca Raton, along with his five brothers (Richard, Ronnie, Russell, Rand, Ryan). If you have live in Palm Beach County, chances are you have crossed paths with one of the Chisholm boys.
Robert is a proud graduate of Cardinal Gibbons High School and an FAU Owls Alumni. He has deep roots in the Boca Raton community, where he has long been a General Contractor (American Plastering & Construction). He loves boating, fishing and spending time with his friends and family. He remains close to many of his friends from elementary school (St. Joan of Arc) and high school.
Sarah was born in South Korea and was adopted at the age of 5, with her brother. She grew up in Bergenfield, NJ and then attended college at the University of Pennsylvania. After a decade in Philadelphia, she transplanted to South Florida where she met Robert.
Sarah operates a small decorative hardware business, BCI Decorative Hardware, which serves a niche market of custom home builders in South Florida. She is a certified RYS200 Yoga Instructor and spends whatever free-time she has baking, gardening and crafting - however outside of the home, she is happiest on a yoga mat.
In 2005 after a few years of "courtship" Robert and Sarah were married and blessed with three amazing, active, spirited daughters. Today they are a dynamic household with a variety of interests. Both Ella and Emma attend J.C. Mitchell Elementary School. Ella is a Safety Patrol and both girls participate in the Music Club. They are ravenous readers and love the beach, water activities and crafting.
Both Ella and Emma dance with the Dance Academy of Boca Raton and for the last four years, Robert has also participated in the Nutcracker as Clara's Dad and Droselmeyer in the Dance Academy's annual production of the Nutcracker. Both girls are also members of the Indian Princess Nation and are part of the Chickasaw Tribe.
Ella loves dance and is a member of Company at the Dance Academy of Boca Raton. She hopes to pursue her love of dance next year and attend BAK School for the Performing Arts.
Emma loves fine arts and continues to explore multiple mediums. She love painting, drawing, working with clay and any type of crafting. She also takes weekly yoga classes with Happy Sunshine Yoga, where through yoga and a variety of activities, Miss Lilly provides a safe environment, empowering girls to embrace their voice, understand their worth and practice kindness.
Eva, the youngest of our Chisholm clan is a sweet, irresistible, love-bug. Anyone she meets eventually falls under her spell. Her deep brown eyes lure you in and it is all but impossible not to fall in love with her. Although she is non-verbal and has very limited means of communication, she somehow knows how to make others feel so very loved.
At the end of March 2017, Eva, now five, was diagnosed with a rare genetic condition called Beta-propeller Protein-associated Neuro Degeneration – BPAN - a devastating, life-limiting condition which affects approximately 500 people in the world (mostly girls).
BPAN can cause a host of symptoms starting in infancy including cognitive and motor delays and Autism related behaviors. Many children do not acquire speech or have very limited speech. Additional symptoms include disordered sleep patterns (Eva has not slept through the night since birth), complex seizure disorders and vision issues. The range of symptoms and the severity of the symptoms vary for each individual.
In late adolescence or early adulthood, Eva will experience a sharp and rapid cognitive decline accompanied by adult-onset movement disorders, including dystonia (painful muscles spasms) and Parkinsonism. The cruelty of the disease will eventually lead Eva to dementia and loss of life.
At this time there is no treatment…and NO CURE.
Fortunately, Eva is very healthy, for the most part. She does suffer from a variety of seizures (which has landed her in the hospital for several multi-day stints), however they are currently under control through therapeutic interventions. Most recently, Eva (who is vision impaired) has been diagnosed with optic atrophy, which will eventually lead to complete loss of vision. Nevertheless, she is generally very healthy and happy and continues to make progress every day.
The diagnosis was just the beginning of our family odyssey, which brings us to today - which is a request for help.
WE CANNOT DO THIS ALONE:
In our journey, a few things have become abundantly clear – 1) we are committed to providing Eva the highest quality of life and 2) we cannot do this alone. So much of what we have learned has been with the assistance of the worldwide BPAN Community. They have provided information and support each step of the way. We have learned that as a community we stand stronger together.
Part of the difficulty and daily struggle is that BPAN is an ultra-rare condition, affecting only 500 patients worldwide (approximately 1/10,000,000). Eva is the only patient that we know of with BPAN in the State of Florida. What we learned quickly is that both the medical and scientific community lack enough information to truly provide Eva with all-around, quality care. The WDR45 gene (the genetic cause of BPAN) was only discovered at the end of 2012, thus leaving most BPAN families to become caregivers, advocates, educators and researchers.
Soon after Eva’s diagnosis, we launched a website evamagoo.com, to tell her story. Now we want to do more to help the BPAN Warrior Community, who share our same struggle. To this end, we have just launched a national website, bpanwarriors.org, a website solely dedicated to providing support and access to resources to families with loved ones who live with BPAN.
We have two local events planned to support BPAN awareness and fundraising efforts. These events will coincide with word-wide Rare Disease Day. Our goals are to:
Increase BPAN awareness
Attract social media and local media attention
Raise funds for BPAN research and Family Support*
*all donations to go to benefit the NBIA Disorders Association www.nbiadisorders.org
WE CANNOT DO THIS ALONE
CAN WE COUNT ON YOUR SUPPORT?
Let us know if you would like to know more; feel free to ask questions!