Kathy Stagni has been the Executive Director of Organic Acidemia Association for 25 years. In 1988, her daughter, Melissa, was diagnosed with propionic acidemia (PA) when she was a few days old. PA is a rare genetic condition where individuals cannot break down certain proteins and fats, leading to the build-up of harmful toxins that can cause damage to the heart, kidneys, pancreas, and brain. PA requires lifelong management and in some cases, can be life-threatening.
After a few years of living in denial, Kathy began to share Melissa’s story and connect with other PA families over the phone. Soon, she was given the opportunity to take over OAA and get it off the ground. From here, she led the charge for newborn screening for PA and to this day continues to advocate for new research and treatments, even though she knows her own daughter may never be able to access these treatments. Kathy is a strong believer in the voice of parent advocates.
Melissa’s propionic acidemia diagnosis
Our story with PA began 34 years ago when my first child, Melissa, was born prematurely. Back then, there wasn’t newborn screening for PA. Since Melissa was a preemie, she stayed in the hospital longer, which turned out to be a good thing. At first, the doctors didn’t think much of her being lethargic. But we were fortunate that the physician on call noticed some of the symptoms when she was starting to slip into a coma on her third day.
The doctors weren’t exactly sure what they were dealing with, but they knew Melissa was critical and she had to get transferred to the University of Minnesota hospital. It seemed to be a really long time before they got her transferred, and by that time her ammonia levels were creeping up to a really dangerous amount. They had to perform hemodialysis to get that down. Fortunately they had a metabolic team there determined which metabolic disorder she had – propionic acidemia. I took her home on day nine, believe it or not.
The search for other PA families
This was 1988, so there was no internet. We were given an article from a medical journal that we couldn’t really understand. At that time, you were basically at the mercy of whatever the doctors told you to do. For a few years, I was in a state of denial, so it was my husband who developed a system of tracking Melissa’s medical formula in a notebook. She would get sick quite a bit in those first couple of years, so that was kind of our norm.
I didn’t really have anyone else to connect with or talk to that had somebody with the same condition at this point in time. I do recall meeting other PA families who were at the same clinic, but we didn’t have a lot of opportunities to sit and chat during those visits. Since this was before HIPAA was passed in 1996, doctors could tell you when they had other patients with the same condition. I recall having a gathering at my home with another family that lived about two hours from us. They had an older child with the same condition as Melissa. We still see that family today.
I knew there were other families out there. Around this time, there was a newsletter that another PA caregiver started, which was the beginning of the Organic Acidemia Association (OAA). I shared my story in the newsletter when Melissa was about three years old. I got a few phone calls from different people because that's the way you did it then…you picked up the phone if you wanted to talk to other families. We’d sit and share stories over the phone.
Advocating for newborn screening for PA
There was one particular PA mother who was very encouraging of me to do something. She thought I should take over the newsletter. When Melissa was eight, I had the opportunity to take over OAA and got it off the ground. At first, my only intention was to run the newsletter but doctors encouraged me to encourage families to advocate for newborn screening for PA.
The reason newborn screening for PA is important is so infants can get on a medical diet before their ammonia levels get too high and cause damage to their organs. I had a listserv and told families to rally around getting newborn screening passed in their states. I think these parents understood we are powerful advocates, and that people would listen to us if we were louder in voicing what our kids need.
There was a group of eight disorders we were advocating to be added to newborn screening. At this point, there was no federal committee dedicated to newborn screening, so we really had to focus on going state-to-state. We had advocates in every state and families were joining state newborn screening committees. Some states didn’t even have committees at the time, including my home state of Minnesota, so I kind of got that started. I remember a person at the Minnesota Department of Health actually purchased the tandem mass spectrometry machine ( which analyzes newborn blood spots to detect for certain metabolic conditions) without going through the proper channels. There was controversy over that. There were really no rules in place. We had to develop our own pathway, but we pushed forward.
What nailed it for us was getting the March of Dimes involved in the effort. Once they stepped in, states knew they had to get it done and start screening for PA. From when our efforts began to when 50 states were screening for PA, it took about ten years.
What the future holds
In the last 34 years, we’ve learned a lot about propionic acidemia. We knew that since Melissa’s ammonia levels built up in brain, she would develop cognitive disability, but we didn’t know to what degree. Her milestones were delayed and she was in special education in school. She also did adaptive sports and got a letterman jacket. She had that high school experience like other kids, but still different. She was happy, she had friends. After high school she went to a vocational transition program where they work on skills for being able to get a job. She’s had various types of jobs. Along the way, there were things that were affecting her body.
We were always told as long as she stayed on her diet, things would be stable. Now we know that even if people with PA are on the medical diet, the toxins are still in their body and affecting their organs in the long term. Before, doctors didn’t really know this because there weren’t many PA patients that lived into adulthood. She has cardiomyopathy and stage three kidney disease. This was something doctors didn’t know could happen with PA until it started happening to our adults, including Melissa.
Her kidney issues were only discovered a few years ago during a PA study. I know her doctor can’t pay attention to only my Melissa, but she's my only child so I can focus on her and make sure she gets everything she needs. Now she’s living on her own in her own apartment. She can measure and mix her own formula. I’m her caregiver so I still do a lot, but she’s capable of doing a lot.
It’s important us PA parents keep using our voices to push for more research. Right now our kids are dependent on this medically prescribed formula. If one producer has a shortage, it is scary for families. Your child’s main nutrition is not there anymore. You switch to a different company and it’s not the same, they don’t tolerate it as well. Also, formula is artificial nutrition and we don’t really know the long term effects.
I think parents’ voices are very strong and they need to speak up. You can make a difference not only for your child but other children as well. At this point, my daughter may not have access to any of the future treatments, but that doesn't stop my advocating for other kids.
