300 million colours of Rare: three patients and caregivers share their rare disease stories
An article developed and sponsored by PTC Therapeutics
With the prevalence of 6,000 rare diseases and 300 million people affected, one could say that there are 300 million rare disease stories, each with their own lived experience and colour of life. That’s more colours than the eye can see! The Rare Disease Day 2024 theme “Share your Colours” provides an opportunity to shine a light on these unique stories and reveal the colours of strength, courage and resilience.
Meet Kevin Alexander
Vice president of the Louisiana Metabolic Disorders Coalition, a volunteer for the National PKU Alliance, and a member of the International Society for Neonatal Screening.
Kevin Alexander lives with phenylketonuria (PKU), a rare inherited disorder that causes a buildup of phenylalanine in the body, which can lead to intellectual disability and significant health problems. He has been an advocate for PKU, newborn screening and rare disease awareness for over a decade. He started his advocacy work by producing the video “My PKU Life” and has since travelled around the world speaking about life with this rare disease and producing other videos about PKU.
Growing up in the 1980s Kevin was told that he could relax his diet as he grew older. As a teenager, he didn’t keep a very strict diet and stopped drinking formula. As a result, he was a C average student in high-school and college. In his early twenties he started drinking formula again and his overall health improved. Subsequently, he was able to pursue a graduate degree, which he completed in 2011 with a 3.75 GPA.
He has never allowed PKU to prevent him from accomplishing his goals. He has a bachelor’s degree in mass communication, a Master of Arts in theological studies, and has over 20 years of experience in professional video production. He spent seven years working in local TV news as a news videographer and satellite truck operator. He covered many national stories for local news including the 2003 Columbia shuttle disaster, numerous hurricanes, the 2007 BCS National Championship Game (Geaux Tigers!), and even witnessed the catastrophic damage in New Orleans less than one week after Hurricane Katrina. He has since left the TV news business and now works for CRM Studios Louisiana as senior editor/videographer.
He is the host of “Never Give Up: A Rare Disease Podcast”. It’s a storytelling podcast exploring the intersection of life, mental, health and rare disease. Transcripts of the show are available at his website, “PKU Journal”, along with other articles and videos about PKU and newborn screening.
“Rare Disease Day is an opportunity for me to reflect on something I believe with all my heart… Rare disease life has no borders. We are one global community. And we are all in this together.”
Meet Ivana Badnjarević
Founder, Lil’ Brave One.
After experiencing a normal pregnancy and birth to a seemingly healthy baby girl, Ivana first noticed something wasn’t quite right when her daughter, Ana, failed to reach her milestones from three months old. Following months of doctors’ visits with no answers, Ivana was given no choice but to delve into her own research. After suspending her PhD studies and committing her time to months of extensive Internet searches, scanning paediatric medical books and discussing her daughter’s symptoms with specialists, Ivana finally stumbled upon a child with similar symptoms, and the road to Ana’s diagnosis began. Following a visit to Germany for a neurological test, Ivana’s daughter was finally diagnosed with tyrosine hydroxylase deficiency (a rare, neurometabolic disease, causing uncontrollable muscle contractions and developmental delay).
Despite facing the initial emotions following the discovery of her daughter’s rare, “parkinsonian” type disease, Ivana says that her daughter’s eventual diagnosis gave her answers which “felt like a cure in itself”. This fuelled her own motivation to set up “Lil’ Brave One”. Developed with the main aim of informing and supporting patients and their families with neurotransmitter diseases, Lil’ Brave One has created a community of patients across Serbia and beyond. Ivana was also the president for the National Organisation for Rare Diseases of Serbia 2017–2021, which provides a unified voice and support network for people and their families affected by rare diseases. Ivana is a member of the executive board at International Working Group on Neurotransmitter Related Disorders (iNTD), where she shares the voice of patients.
“Embrace the bravery within. Like a beacon of yellow light, we shine through the challenges of rare neurotransmitter diseases. Together as the Lil’ Brave Ones, we paint the world with courage and hope.”
Meet Kelly Heger
Founder and executive director of the AADC Family Network and her daughter, Jillian.
Kelly Heger is a mother of four children and the primary caregiver of her daughter, Jillian, who was the fourth child in the world to be diagnosed with the ultra-rare condition aromatic l-amino acid decarboxylase (AADC) deficiency. Following Jillian’s diagnosis, Kelly decided to earn her nursing degree and provide round-the-clock care for her daughter. AADC deficiency is often left undiscovered and untreated due to a lack of awareness about the disease—something that Kelly strives to change. Today, Kelly dedicates her time and resources towards building awareness around Jillian’s story and AADC deficiency.
Kelly is the Founder of the AADC Family Network, which promotes awareness, provides advocacy and assists other AADC deficiency families working to navigate the disease. The foundation also aims to support other children who live at home with their families.
Kelly resides in Bridgewater, Massachusetts, with her family, where she devotes herself to building awareness towards AADC deficiency and bringing impacted families closer together in a strong support system she has built throughout the years.
Kelly says that Rare Disease Day holds a special importance for her family. “On Rare Disease Day, I recognise that we are not alone in our journey. We are part of a global community where we share experiences, challenges and triumphs.” She believes that Rare Disease Day serves as a “powerful reminder of the strength, resilience and unity” of the rare disease community.
“Together, we can make a difference. And as Jillian says, ‘One day I will walk, one day I will talk; today, I can smile.’ Let’s continue to spread hope and inspiration to all affected by rare diseases, including those with AADC deficiency and their families.”
Can you see a colour that you did not see previously?
Just as colours shape the world we live in, rare disease stories shape the work of PTC. For more than 25 years, PTC has been tackling rare diseases with groundbreaking science and technology and delivering innovative therapies. This Rare Disease Day and every day we raise awareness and support our patients and the rare disease community.
“We are thankful for these individuals’ and caregivers’ willingness to share their rare disease stories. They bring light and colour into our work that drives us to change the course of rare diseases for the better.” Frank Quintieri, vice president patient engagement, PTC Therapeutics
To learn more about rare diseases please visit www.rarediseaseday.org
This article is developed and sponsored by PTC Therapeutics, in collaboration with patient representatives.
PTC/Corp/UK/24/0001 | Date of preparation: February 2024
