The world was a very different place in 1988.
Facebook was nonexistent, smart phones hadn’t entered the market and cars didn’t come with built-in GPS systems. Information was simply less easy to share, even with your neighbors.
So when Melissa Stagni was diagnosed with propionic acidemia, a rare metabolic disorder, her parents felt very alone.
Melissa fell into a coma just four days after she was born to Lee and Kathy Stagni. Her ammonia levels reached 2,000 µmol/L. Her body rejected any sort of food or nutrients. Kathy and Lee were beside themselves. Then the doctors informed them that Melissa had been diagnosed with propionic acidemia, also known as PA. There was little information about this rare disease. And there was no easy way for Kathy and Lee to connect with other families struggling with PA and other organic acidemia disorders.
The Stagni family stayed in the hospital for nine days after Melissa was diagnosed, as the University of Minnesota’s pediatric metabolic clinic ran test after test. Kathy and Lee were stricken with grief, unsure of what this diagnosis meant for their only daughter. But they never gave up hope.
Instead, they chose to dedicate their lives to fighting for Melissa’s.
“Her social life is my social life.”
Melissa’s first years of life included frequent visits to the hospital. Kathy and Lee soon learned that this disorder is generally managed through controlled nutrition, so each day they prepared special medical food that was fed to Melissa through a nasal gastric tube. PA rendered Melissa vulnerable to infections, so she was unable to attend day care or preschool. The Stagnis’ solution was to host live-in nannies to help care for her.
The Organic Acidemia Association (OAA) is the world’s leading source for support and information about the metabolic disorders known as organic acidemias, which include propionic acidemia and methylmalonic acidemia. The group is a volunteer-run, nonprofit organization whose mission is to empower families and health care professionals with knowledge about organic acidemia disorders. OAA supports early intervention through expanded newborn screening, solicits contributions and distributes funding that supports research toward improved treatment and eventual cures.
For more information on the work that OAA is doing to help patients living with Organic Acidemias, visit: https://www.oaanews.org/.
The Stagnis’ support system
Melissa’s hospital visits became less frequent as she got older, but the stress and anxiety associated with managing a medically fragile child continued to take its toll on the couple. When Melissa was 10 years old, Kathy discovered a newly formed parent support group called the Organic Acidemia Association (OAA) whose mission was to provide information to parents and professionals dealing with a group of 30 related metabolic disorders – which included PA. The OAA soon became the family’s primary “go to” source for advice and information on medical advances related to PA.
Melissa, or Mimi, now 31 years old, is an extremely active member in her community. Between participating in the Special Olympics and working for her father at Inner Lighting, a consortium of energy conservation and renewal energy companies, her social life is vibrant. “I’m mostly her chauffer these days,” says Kathy. “Her social life is my social life.” In addition to her job, Melissa loves to bowl with her friends and create art through coloring. Today, she is one of the oldest people living with PA.
“There’s a lot of hope.”
Though Melissa still encounters extreme difficulties such as frequent dehydration, stage 3 kidney disease and developmental delays, she is able to live semi-independently through the support of OAA and her family.
OAA’s impact on OA
In addition to her full-time job at Medtronic, Kathy has led the OAA as its executive director for more than 20 years. Since she joined the organization, thousands of families living with OA disorders have become connected across the globe. Kathy even recalls a time when a family from India received a formula donation from a U.S. family in their time of need. She has also championed newborn screening for metabolic disorders; through her efforts, OA disorders have been added to the recommended newborn screening panel in all 50 states. Through its social media presence, printed newsletters, research fundraising and much more, the OAA has become a staple in the lives of those living with these diseases.
“There’s a lot of hope,” says Lee. He mentions that many young parents are trapped in a cycle of grief when their newborn is struck with such a rare illness. Through OAA, families can express concerns and seek support in every turn of their child’s life. Kathy has made it her personal mission to interact with every family in the OAA Facebook group. She offers counsel and support at every turn, for all who need it.
Under Kathy’s leadership, the OAA has grown to be the largest patient advocacy support group for PA, MMA and other organic acidemias.
LogicBio’s involvement with OAA:
At LogicBio Therapeutics, we chose an organic acidemia disorder, MMA, as our first indication because of the stark unmet need. We hope to bring patients the first disease-modifying therapy for MMA through our genome editing platform. As we pursue this mission, we have been proud to collaborate with Kathy and OAA. We were proud as well to welcome the Stagni family to our offices. Kathy, Lee and Melissa toured our labs and spoke to our team about the urgency of our work. Read more on how we plan to help OAA fight against organic acidemia disorders through our proprietary technology, GeneRide.