It’s difficult to comprehend what living with a rare disease feels like—the questions, the uncertainties, the fear. Unless you live this life, either as a patient or family member, you can’t really know the agony of needing a diagnosis and dreading a diagnosis all at the same time. A symphony of emotions that never stop playing.
This excerpt, written by a young mother watching while her baby undergoes months of testing in search of a diagnosis due to an inability to bear weight on her arms and legs, sums up the feelings in a way that only someone entrenched in the day-to-day realities of living with a rare disease could.
“They said pregnancy would be hard. They said delivery would be hard. They said breast feeding would be hard. The lack of sleep. The newborn phase. The first three months. The terrible twos. The toddler years. The days of screaming. The days of “no.”
What they never said was…
Your child might be different. Your child might not do things on time. Your child might never do things. You’ll dream of the terrible twos. The toddler years. The saying “no.” You’ll dream of chasing your child.
You’ll dread every doctor’s appointment. You’ll watch your baby go under anesthesia. You’ll watch your baby get poked, inspected. You’ll hope there’s an answer. You’ll hope there’s not an answer.
You’ll learn to love the difference. You’ll learn to be ok with an answer.
Embrace change. Gather strength. Cling to community. You’ll understand acceptance. You’ll cry the saddest tears. You’ll cry the happiest tears. You’ll grow. You’ll regress.
You’ll experience the deepest sadness and brightest joy, simultaneously.
Life is beautiful. Life is special. Life is different.” – Breanna Barber
Two weeks after writing this, Breanna will receive a call that will forever change her perception of her family’s future. Her daughter Blake has been diagnosed with Rett Syndrome, a rare genetic mutation that will slowly cause her to lose all motor function and speech ability, while also putting her at risk for an array of complications throughout her life.
It’s devastating. It’s heart shattering. But it’s an answer.
Rare Disease Day needs and deserves so much more attention than it’s given. It’s not about the what, but about the who. An estimated 25 to 30 million Americans (350 million people worldwide) are living with a rare disease, but what we forget is that behind each one of these numbers is a real person and a real family whose every day is affected by physical and emotional struggle. Families and those dealing with rare diseases are fighting to live and thrive in a reality different from anything they ever could have anticipated.
These warriors are the why behind everything we do. With every rare disease organization promoting education and advocating for research, and with each scientific advancement made, we all gain a broader understanding about rare diseases and their impact. We at JB Ashtin are fortunate to see firsthand the dedication and drive of amazing organizations and the tireless commitment of scientists who are immersing themselves in their research with the hope of effecting change in the lives of patients living with a rare disease. We’re fortunate to see hope, to see answers.
The sheer number of patients and their families struggling with a rare disease is indeed staggering. The burden of this struggle should not rest solely on the shoulders of the individuals and families fighting these battles every day. As a society, let’s commit to sharing the weight of this battle. While organizations and researchers search for a cure, we can do our part in spreading awareness, fundraising for research, and always choosing kindness.
The great orator and writer, Robert Ingersoll wrote, “We rise by lifting others.” We will continue to rise through a collective mission to uplift those around us. Whether you are a scientist whose work is building off of past discoveries, or a community who comes together to rebuild a local park to be more inclusive to those with limitations or disabilities, all of these efforts are building a world of support, inclusion, scientific advancement, and hope. These are the building blocks that will create a better tomorrow, not only for patients and families living with rare disease, but for society as a whole. How can you help? Spread awareness on social media, donate to a campaign, pursue a career in science, there are countless ways that we can continue to be advocates for those around us. You may even end up changing 2 lives in the process, someone else’s . . . and your own.
For those who came before us, for all who will come after, for my sister Breanna, and my incomparably sweet niece Blake, for patients and families fighting for answers, for a cure, we commit to raising awareness for the ongoing need for resources, funding, and policy changes. We commit to partnering with organizations whose work is central to the well-being of patients and their families. On this Rare Disease Day, we see you, we stand for you, and we’ll continue to rise with you to create change.
Care for rare.
Contact us if you’d like to learn more about our commitment to partnering with others to improve the lives of patients.
JB Ashtin is a medical communications company focused on translating science into actionable clinical practice. Our mission is to provide education that creates a more informed dialogue between HCPs and the patients they care for. We do this through creating learning experiences that make complex scientific information digestible and meaningful to the advancement of patient care.