Kate Across America brings our intrepid correspondent, Kate, to Alabama where she talks with Swapna Kakani about raising the profile of rare disease advocacy. Here’s Kate….
Throughout this journey across the United States, I have met more individuals turning their adversity into action than I knew was possible. From providing leadership in large and small nonprofits, to whipping votes for their legislative priorities. It is almost as if they are all trying to say “I don’t want anyone else to have to go through what I went through”.
Swapna and I connected through the valuable work of her patient advocacy organization, Alabama Rare. It was evident that we shared similarities in our stories – both students in the healthcare field, both diagnosed with rare diseases, and both with a mission to enlighten and advance the voices of patients. For both of us, a number of things had to go wrong in order to become the people we are today, and for Swapna, that moment came when she was born.
BORN WITH SHORT BOWEL SYNDROME
Swapna was born with a birth defect of the small intestine. On her second day of life, she had abdominal surgery to attempt to correct the defect. She was diagnosed with the rare disease, Short Bowel Syndrome. For her entire life, even today, Swapna receives her nutrition through an IV (TPN – total parenteral nutrition) because her intestines can not adequately digest solid food.
Swapna remembers the IV nutrition to be a necessary burden citing that “One of the biggest risks of having an IV is the complication of an IV-line infection. In my 30 years, I’ve had at least 25 line-infections”.
ACCESSING THE RIGHT CARE WAS HARD
Growing up in Huntsville, Alabama, the subspecialists she needed were not available. Swapna’s family often traveled two hours south to Birmingham, AL, and even out of state to receive specialized care. With age, managing her Short Bowel Syndrome became more difficult. That included dealing with the stigma of being different in school. Swapna did what she could to hide her tubing so others couldn’t see.
As an adult, independence from IV nutrition became more pressing, especially with the number of complications and time spent in the hospital. “When I transitioned to adult care, we hoped to reach the goal of no more IVs or tubes, hopefully improving on the anatomy I was born with. Unfortunately, my surgeries to correct my intestine ended up creating more abdominal complications.”
TRANSPLANT, THE ONLY OPTION LEFT
Swapna made the difficult decision of joining the small intestine transplant list. After spending years of protecting what remained of her intestine, she was ready to give it up fully due to the vast number of complications. She had the transplant. But in the process, she observed how the viewpoint of the patient was overshadowed.
During her recovery and adjustment into a new life, Swapna questioned her trajectory as a future member of the workforce. “I really got motivated to want to improve the delivery of care.” That summer, interning for the National Organization for Rare Disease (NORD), Swapna found purpose in legislative rare disease advocacy. Returning to Alabama, she couldn’t help but feel a disconnect between the policies she lobbied for on the federal level, and the limited immediate impact her advocacy had on her community in Alabama. As she recalled, “I made a decision to come back to Alabama and enroll in a Public Health Master’s program to further what I had started doing – and that was creating a coalition for the rare disease community in Alabama.”
ALABAMA RARE IS BORN
Rare diseases, by all accounts, receive the short end of the stick when it comes to things like funding for research and interest for therapeutic breakthroughs. Alabama was no exception. The rural nature of the state and the lack of highly specialized clinicians made access for rare disease patients especially difficult. “Of course, every day I’m frustrated that we have the limitations that we do in Alabama. It hurts when I see families that are victims of the healthcare system especially when Alabama’s infrastructure contributes to that.” But Swapna was quick to tell me not to write Alabama off.
She learned that a lot of healthcare policies that impact day-to-day life are made at the state level. While D.C. is where robust, national policy is implemented, small, but imperative policy, such as the delivery of newborn screening tests, is implemented through the State House. Recognizing the power of state advocacy, Alabama Rare was established to educate state lawmakers on the vastness of rare disease and advocate for bills that would benefit and protect those living with rare disease in Alabama, her home.
RARE DISEASES ARE NOT RARE
One of Alabama Rare’s key programs is their Rare Disease State House Advocacy Event. The program educates state legislators that “rare is not rare”. While a policy might seem to benefit a rare few, when looked at collectively, the rare communities on whole have a greater chance of receiving legislative action.
But seeing the rare population holistically takes on an even greater importance. “Organizations coming together to say ‘OK what can we do to make some improvements’, that’s the point of things like the Rare Disease Advisory Council – putting different rare disease stakeholders at the same table.” That’s how rare voices can gain volume. Bringing together individuals who may have never met anyone with their condition is empowering and fulfilling in itself. Bringing together individuals from different rare disease communities to voice their needs and work together – that’s how real change happens.
Kate Pecora is a senior honors student at the University of Massachusetts Amherst studying Healthcare Policy and Political Science. She is an advocate for rare diseases, primarily in the neuromuscular space. Kate is, herself, diagnosed with Spinal Muscular Atrophy Type III. She is traveling across the United States searching for the most compelling stories of patient access, affordability, and quality. Ultimately this will become a book that will educate students on the importance of patient perspective. Instagram Facebook Twitter
From the Editor:
Rare disease advocacy, both by organizations and individuals, must remain constant. Current events like the coronavirus make it far to easy to overlook the needs of rare disease communities.
Here’s some additional reading from the Patients Rising library on rare diseases and the importance of rare disease advocacy:
“Rare Disease Patients, You Must Make Yourselves Heard” by Samantha H Smith