By Maureen Neville
FIRST, Foundation for Ichthyosis and Related Skin Types
When someone discovers that I am the Communications Director for FIRST, the Foundation for Ichthyosis & Related Skin Types®, typically, I am greeted with the same three questions: “What is ichthyosis?”, “Is someone in your family affected?” and…“What brought you to FIRST?” From a clinical perspective, I may respond by saying: ichthyosis is a family of genetic mutations of the skin characterized by dry, scaling skin that may be thickened or very thin, and most forms of the disorder are very rare. Each year, more than 16,000 babies are born with some form of ichthyosis and it affects people of all ages, races, and gender. Ichthyosis may also severely affect someone’s emotional health and it can lead to a host of other illnesses such as bacterial infection, heat stroke, and immobility.
And, no, I do not know anyone on a personal level that has been affected with ichthyosis.
However, there is more to the story – much more. So what is ichthyosis? It is a genetic skin disorder, yes, but it has also been the catalyst that has lead me on a worldwide journey of meeting the bravest and most inspirational people of my life – a young mother from Illinois, whose baby was born with ichthyosis last December, who has not only accepted her fate of grueling skin care routines, a daily parade of doctors and therapists, and caring for an infant through unprecedented surgeries – but considers it a wondrous blessing; one that she is delighted to share, daily, with the entire world. The young woman from Australia with ichthyosis who has turned her strife into a worldwide “appearance advocacy” effort, changing the way people perceive disability by offering words of empowerment and guidance to all those who “look different” everyday. The teenager from Canada with ichthyosis who only recently shared with us his moment of enlightenment – when he finally realized that because he beat the odds of not “dying by age three,” as doctors had predicted, his life was not a merely ordinary existence, but a destined one. Or, the twenty-year old woman from Arkansas who is the second oldest living individual, with one of the most severe mutations of the disorder – who has not let ichthyosis steal a single moment of her life – and in fact, is now expecting her first child. And of course, the team of medical doctors, stowed away in a clinical laboratory at Yale University, for nearly 31 years, fueled by one and only one thought: finding a cure. Each day, they defy the odds and travel their paths alongside a disorder for which, presently, there is no cure. And they never lose sight that accompanying their every step is hope, support, and the tireless team of advocates at FIRST.
In fact, it is their hope that is the driving force behind mission of FIRST – to educate, inspire, and connect all those affected by ichthyosis. It is their hope that inspires this 31 year-old organization, that has affected so many lives, to be the only national non-profit foundation located in the United States dedicated to assisting families affected by ichthyosis; the only patient advocacy organization funding medical research specifically targeted toward finding advanced treatment as well as a cure, and an organization that has funded 13 projects granting over $1.4 million in research since 2006.
And it is their hope that expands the definition of ichthyosis to the far corners of the human experience – far beyond the diagnosis of a rare genetic disorder.
So what is ichthyosis? It is a message; a call for human compassion; an invitation to experience the authentic awareness of “other.” It is the doorway to unprecedented medical advancements and, most remarkably, it has become an opportunity for worldwide connections…and the chance for global unity.
But the question that is my absolute favorite to answer is this, “What brought you to FIRST?”
If only in these moments I had glamorous, compelling tale of high seas adventure that lead me to their door – but actually, I do not. In truth, the position for Communications Director was actually posted online. The beginning, clearly, is not exactly what you may call riveting. However, as I would not know for several months whether or not the position would be mine, I had the opportunity to discover that this organization was filled with the extraordinary. And what I can also tell you is that I never dreamed, when I was first invited to join the staff, a mere seven weeks ago, having neither friend nor family member affected with ichthyosis – that I would be brought into a community that has felt like the warmest embrace a family could offer.
It is a privilege to work alongside this team of intelligent, passionate and unwavering optimists and I will be eternally grateful for the opportunity to meet all of the unforgettable individuals with ichthyosis; to answer questions about the disorder and to spread the word about our work, our mission and, above all, to raise awareness for this rare disease, so that someday I may be answering the question: When did they find a cure for ichthyosis?
The Foundation for Ichthyosis & Related Skin Types, Inc.® (FIRST) is invited as a guest blogger and does not endorse or serve as a product representative for Coolibar.
Eu sei muito bem o que é conviver com ictiose. Tenho filho e neta com doença e torço para uma cura desse horrível doença.Acompanho diariamente as publicaçoes da FIRST.
Obrigado por comentar. FIRST é um grande recurso. – Amanda