A WELCOME FROM BPAN WARRIORS FOUNDER, EXECUTIVE DIRECTOR, SARAH CHISHOLM
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 (12), Emma (10) and Eva (7) 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.
Up until recently, Sarah operated a small decorative hardware business, BCI Decorative Hardware, which served a niche market of custom home builders in South Florida. Sarah is also a RYT 200 Yoga Alliance Certified Yoga Instructor and when not steeped in research or advocacy work, you might find her with her husband and three daughters, Ella, Emma and Eva, digging in their garden, baking up some fresh bread, or involved in one or more art projects.
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.
Ella currently attends middle school and love dance and has attended the Dance Academy of Boca Raton and for the last six 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.
Emma loves fine arts and continues to explore multiple mediums. She love painting, drawing, working with clay and any type of crafting. She is also a member of Stronger Girls, where through 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 seven, was diagnosed with a rare genetic condition called Beta-propeller Protein-associated Neuro Degeneration – BPAN - a devastating, life-limiting condition.
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 did not sleep through the for nearly her first five years of life), 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 may eventually lead to complete loss of vision. Despite her many challenges, Eva is a feisty little girl, curious, stubborn and altogether spoiled by her doting family. Most importantly Eva is generally 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. Eva was the first 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 bpanwarriors.org, a website solely dedicated to providing support and access to resources to families with loved ones who live with BPAN.
Now with a few years of experience and research under our belt, we are more certain than ever that a cure for BPAN is possible.
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!
MORE ABOUT SARAH:
Sarah is also a new member of the 2019 Global Genes RARE Foundation Alliance Leadership Council, where she will continue to share her experience and knowledge across multiple rare disease initiatives, to expedite the path for moving ideas, progress and actions, in both research and patient advocacy.
Sarah attended the University of Pennsylvania, where she studied English and Fine Art. Over the last decade Sarah owned and operated a small decorative hardware company in Boca Raton, Florida for the past decade. Entering 2020, Sarah made the difficult decision to close her hardware company so that she could dedicate her efforts full time to accelerating a cure for BPAN.
"BPAN - Beta-propeller Protein-associated Neurodegeneration - what a mouthful"
OUR DIAGNOSIS | THE BEGINNING OF OUR JOURNEY
Like the many doctors, therapists, child psychologist and specialists including two pediatric geneticists and two pediatric neurologists, with whom we had consulted multiple times over the past 2-1/2 years, not one had heard of it. Symptoms typically appear in early childhood, which include slow motor and cognitive gains, oftentimes global developmental delays, most markedly in the area of expressive language, where most children acquire few to no words, accompanied by seizures and abnormal sleep patterns. This is followed in late adolescence to early adulthood by a sudden and sharp decline in cognitive function and onset of dystonia-parkinsonism and dementia.
On March 28th 2017, my daughter Eva and I went to Nicklaus Children's Hospital in Miami for what we thought was a “routine” genetics consultation, during which time we were to receive the results of the latest set of genetics panels. I say “routine”, because this was to be our third round of genetics tests; the multiple panels run previously had all tested negative for any anomalies. The MRI, EEG, Sleep Study and every other evaluation and test Eva had undergone thus far, did little to uncover the cause of Eva’s profound developmental delays. Aside from her vision issues, hypotonia and ataxic, wide gait, Eva was by medical standards, exceptionally healthy and anyone who ever examined her, saw a beautiful, spirited little girl, who was well-cared for and showed little signs of any underlying pathology nor did she fit any particular phenotype.
Over 1-1/2 years ago I had fully accepted the fact that my beautiful, little girl was going to be special. At that time, I had not simply “resigned” myself to some awful liability nor did I believe this was a burden that I would bear for the love of my daughter. I did not feel remotely the martyr. Rather I had embraced that God had given me a very precious gift. I was given his most precious cargo and was given charge to watch over her journey. I knew that my Eva was in our lives for a specific reason and I was to witness to her life – wherever it brought her. Acceptance, yes – fear, tears, heartache, sadness – absolutely. When I say that I accepted this new reality, I did. This by no way diminishes the challenges, the worries, the hard work and the sacrifices; it did not obfuscate the truth which lay in my heart, the truth which lays in the heart of any mother who is powerless to understand her daughter when she is crying – with no words, no means to express her needs.
She was given an Autism diagnosis before her second birthday and just in the past year she had also been diagnosed as visually disabled. Even with an exceptionally consistent and intensive therapy schedule, with an amazing, loving, inspiring team of therapists, Eva’s progress, although consistent, proved to be achingly slow.
The pursuit of a diagnosis became less important, than providing Eva with the best standard of care and quality of life that I (we) could provide. Of course a diagnosis could be helpful if it would provide additional resources to implement a better course of therapeutic treatment, however based upon Eva’s global delays, I was fairly confident that, her current course of 15-20 hours of one-to-one Speech Therapy, Physical Therapy, Occupational Therapy and ABA/Behavioral Analysis Services would prove to be the beneficial regardless of a diagnosis. I guess my husband and I had a real fear of going down the “rabbit hole” only to become lost. Keeping in mind that we had two daughters, equally in need of our attention and support, we instead endeavored to find the best doctors and therapists in the area and with their guidance, sought to make thoughtful, conscious choices as to next steps. We wanted to safeguard against getting mired in the pursuit of a diagnosis and at the same time, as loving, responsible parents, we also wanted to make sure we were doing what was best for our Eva. We learned that we had to do what “we” felt was best for our daughter, provided that we remain open to suggestions, while honoring what we intuitively knew to the best for our family. In this arena, the practice of acceptance proved to be invaluable for the entire family.
At the recommendation of our second pediatric geneticist, the whole Exome Sequence was performed – which leads us to March 28, 2017. We met with a new pediatric geneticist (our third – a whole blog post unto itself) and were given the latest test results. WDR45 - BPAN - Beta-propeller Protein-associated Neurodegeneration. All I heard was NEURODEGENERATION.
What does that mean? I was told that WDR45 did lead to iron accumulation in the brain which could potentially be seen in an MRI scan. I was told that it was not an inherited condition, that neither my husband nor I nor my daughters had the potential of passing on the genetic mutation. I was only told that Eva’s developmental progress was going to remain relatively slow – similar to what we had thus far witnessed and that she was unlikely to gain expressive language. I was told that although there was no cure, that I was doing a great job and that I should continue with all of Eva’s therapies.
Unfortunately, what I was NOT told was that the genetic mutation DID lead to Neurodegeneration, due to the iron accumulation in the brain. I was NOT told that in late adolescence or early adulthood, that patients with BPAN would experience a sudden and sharp decline. I was NOT told that dystonia, parkinsonism and dementia were all characteristic of this decline.
As I waited to check out of NCH, I was to find out about the grosser aspects of BPAN via the power of Google. I was to gaze lovingly at my daughter who had been incredibly well behaved and sweet after traveling, sitting in the waiting room and consulting with the geneticist for the past six hours. I was to “keep it together” until I was in the safety of my vehicle. I was to then, sob uncontrollably. The whole two hour drive back home in rush hour traffic was a mix of shock and grief. I was to look though my rear view mirror and see my Eva – completely unaware, smiling back at me.
I was to witness her journey.
READ MORE ABOUT SARAH, EVA AND HER FAMILY