SPEAKER: Rare Disease Insurance Access.
QUINN: Welcome. My name is Quinn Nystrom, MCD Council Member from Saint Michael, Minnesota. I have long blonde hair, and I’m wearing a black suit jacket, and I’m sitting in my home office. Rare disease insurance access is our first segment today. This important conversation features Leo’s mom and citizen advocate, Anne St. Martin, Erica Barnes, Executive Director of the Minnesota Rare Disease Advisory Council, and Representative Liz Reyer. First, Anne will tell you her family’s journey.
SPEAKER: Infant boy lying in a hospital bed. He is in a coma, he has an intubation tube in his mouth, tape across his face, IVs in each arm and both legs. He is lying on a sheet decorated with moose and trees. He has a hospital ID band on his foot that says his name and birth date.
ANNE: Leo is my son. My name is Anne St. Martin. I am a white female with brown hair, wearing a black sweater. Leo has a rare genetic disease called Pompe Disease. Pompe Disease affects one in 40,000 people. Leo was born on May 17, 2016. In all senses, it was a normal pregnancy and delivery. As Leo turned three months, he developed feeding issues. Those issues progressed, and we knew Leo needed help. We knew we needed to see a specialist to help us figure out what was going on with our beautiful baby boy.
This legislation is important to me because we have personally dealt with insurance barriers, getting access to the proper specialists and treatments we need. I will share with you just one of our insurance struggles. Leo’s Pompe Disease diagnosis only came because he almost died. We had seen our pediatrician for the feeding issues. She had ordered labs and they had come back normal. Our pediatrician recommended that we go see a pediatric neurologist, but first we needed to wait for prior authorization from our insurance. As I sat there and watched my beautiful baby get weaker and weaker, I knew I could not wait the three to six weeks they said it could take for insurance to approve the appointment.
On top of that, there are a limited number of specialist appointments available to you. So even after you get the prior authorization, you then can wait eight more weeks to even get in to see a doctor. I called the neurologist and told them I would pay out of pocket. They told me they normally don’t do that, and I would need to give a credit card, and it could cost up to $5,000 or more for the visit. They also said that even if insurance did end up approving the visit, they cannot go back and refund me. I did not care, and I told them I would bring my credit card with me. They then told me the next available appointment was in four weeks. I told them I would not stand for that.
Luckily, they had a pediatric neurologist physician assistant that I could see the next day. We took that appointment and we prayed. The next morning, we checked in at our neurology appointment. I gave my credit card to the receptionist and we waited. I remember thinking this was it. We were going to get the answers we needed. It would be worth the cost and Leo would be okay. Instead, the PA came into the room, looked him over, listened to his heart, and then told us she was calling an ambulance and checking us into the hospital. When we got to the hospital, they did an EKG and saw that Leo was in heart failure.
Pompe Disease causes the glycogen that cannot be broken down to be stored in the skeletal muscles, and mostly the heart. At four months old, Leo’s heart was so large it was crushing his left lung, and he was in the beginning stages of respiratory failure. The doctors raced to do blood work and to stabilize Leo, but still were unsure what was causing this. They did blood work on me and my husband, which we also had to pay out of pocket for, since it was not approved, or as insurance said, needed for Leo’s diagnosis. Even though most rare diseases are genetic diseases and parents are carriers of these diseases. Doctors can diagnose better if they can see the parent’s genetic profile.
And they need those answers quickly when you have a four-month-old in heart failure, but that didn’t matter. So another charge to the credit card. Leo was rushed into emergency surgery the first night in the hospital, where they stabilized his heart, put in a G-tube for feeding, and later on a trach for him to breathe. Then we just waited. Two weeks later, still in the hospital, the results of the expensive labs on my husband, myself, and Leo finally came back, and we were given the official diagnosis of Pompe Disease. Pompe is a rare disease that has a treatment. This treatment is enzyme replacement therapy, where Leo receives a weekly six-hour infusion.
This is not a cheap treatment, and the medicine Leo needs is about $600,000 a year. The hospital advised us we needed to call our insurance immediately, and also look into applying for medical assistance. They told us the life-saving treatment for our four-month-old son was very expensive, and would take a while to get approved, mostly because of the insurance barriers. They advised they could do some treatments under a life-saving measures treatment plan, but to have anything past a month of treatment, they would need prior authorization. We reached out to our insurance right away and we were told they needed more documentation from doctors to approve.
Luckily, we were in the hospital and had many doctors available to us on a daily basis who helped us work with insurance to get this approval. Our insurance at first denied the specific dosage of the medicine that Leo needed. He was in such bad shape that the doctors wanted to use double the standard amount. Insurance only approved half the recommended dosage, another barrier we had to get past. There was more paperwork, more begging insurance for approval, and more watching our son lay in a hospital bed while the disease progressed. All we could do is pray that insurance would approve, and pray he could get the correct amount of medicine that would help him.
It took six weeks for insurance to approve the higher dose. We were in the hospital for four months in all until Leo was strong enough to come home. I know today that we are one of the lucky rare disease families out there. We had good, private, PPO insurance when we entered that hospital. We had the ability to afford thousands of dollars of out-of-pocket expenses to be seen quickly, which literally saved Leo’s life. We were told by the doctors after the fact that if we would have waited for a prior authorization to get that initial appointment, Leo would have died of heart failure at home.
I can’t even imagine waking up to my dead child in a crib because I was waiting on a piece of paper recommended by another doctor to see a specialty doctor, can you? We were lucky because our child was so sick–he was near death–that they could get around some insurance barriers by saying it was a life-saving measure. We were lucky because we were physically located within the hospital. We had access to doctors and specialists daily who could call, pressure, and submit documents to insurance in a timely manner. We are lucky because we weren’t afraid to pester the hospital staff, to their face, to help us break down the insurance barriers we were facing. We were lucky that we were in a large metro area and had access to experienced doctors who had seen some other rare disease cases and had some knowledge on treatment. Those are the only lucky things about being in a hospital for four months with your new child.
But you know who’s not lucky? Leo. Those four to six months we waited for appointments, diagnosis, medicine, and insurance approvals for treatment, the glycogen continued to build in his outer skeletal muscles, taking away his ability to walk. The glycogen built up on his heart, and he had to have a trach and a vent for the first two years of his life. Today Leo is in a wheelchair and requires intense weekly therapies just to be able to sit up, dress himself, and speak.
We did eventually apply for medical assistance TEFRA program where we pay a monthly fee based on a yearly income so that we can have a secondary insurance to help us out when our primary insurance denies Leo’s recommended treatment plans. If insurance barriers for rare disease patients were not so complicated, the state would save money in the long term on the cost of families that have to apply for medical assistance, even with primary coverage. The insurance companies would cover these essential costs to treat rare disease, and not make the state medical assistance programs do it.
The state would save money in the long term by getting these patients treated and diagnosed early, which slows down the disease progression, and the need for facility care or nursing support. The state would save in the long term by treating these patients early, and stopping the need for long-term hospitalizations in the future.
As a parent and a citizen, I don’t want the other families of rare disease children to have to go through what we went through. I want all the rare disease children who come after Leo to have access to a provider that is knowledgeable about their disease. I want insurance companies to know that rare disease, while rare, some still have a possible treatment plan for these patients. I want the medical community to understand that time is essential to treating these rare diseases. I want insurance companies to not stand in the way of a child’s life or future because it needs a prior authorization. Thank you for your time and attention to this matter.
SPEAKER: Toddler using a motorized wheelchair, wearing a baseball cap and uniform, holding a baseball bat. He is smiling.
QUINN: Thank you, Anne, for your moving and informative words, which helps everyone here today understand the importance of insurance access for rare diseases. Erica and Representative Reyer, please introduce yourself and provide an audio description of yourself. As you listened to Anne and Leo’s story, will you share with us how you are working together to find solutions to this issue? Anne and Erica should plan to take it from here.
ERICA: Thank you. Thank you, Quinn. I’ll go first. And thank you to the Minnesota Council on Disability for allowing me to be here. It’s a real honor. Good afternoon, everyone on the forum. I’m Erica Barnes. I’m the Executive Director of the newly formed state agency, the Minnesota Rare Disease Advisory Council. Our mission is to improve care for the 1 in 10 Minnesotans that are living with a rare disease. I’m a white woman with brown hair and glasses. I’m wearing a black suit, silver necklace, and I am cozily office-ing out of my home today. So sadly, Anne’s story is not unique in the rare disease community. Anne, you know this.
And so what I’d like to do is put Anne’s story kind in the context of the rare disease community to help people understand what our community is facing. So finding a clinician with the requisite knowledge to diagnose a rare and complex disease can be incredibly difficult to begin with. So some of our patient communities in the rare disease community have a handful of specialists in the United States. It’s not unheard of for some rare disease communities to have only one specialist. So even just at baseline, it can be very difficult to receive a diagnosis and get treatment.
So when you add network restrictions on top of that, it’s not surprising that individuals with rare diseases face significant delays in receiving that diagnosis and getting to the proper care. In fact, the average time to diagnosis that you’ll find cited a lot of times in the literature is seven to eight years. That can be the average time it takes for a patient to get to a rare disease diagnosis.
Our council did one of the largest surveys ever conducted in the US of the rare disease community, looking for some of those barriers to care. We did that in 2021. And what our survey found was that 29% of pediatric caregiver respondents and 19% of adult respondents reported–and I’m going to read this because I want to get it exactly right, how the survey asked the question–they reported being denied seeing a specialist due to that specialist being out of their network. So that’s why the Minnesota Rare Disease Advisory Council is supporting the bill that Representative Reyer is going to tell us a little bit about, and talk about.
LIZ: Thank you so much, Erica. Thank you to the council for including me today. I’m Representative Liz Reyer, soon to be representing Eagan and Burnsville. White woman with short, grayish-blonde hair and glasses, wearing a dark green sweater, with a blurred background.
This is a bill–the Network Access Bill–has been important to me from the beginning of my first term. I came into the House knowing that our healthcare system is not set up to serve people. It is not set up to address health issues or to keep people healthy, just because of the bureaucracy and its existence for the profit motive–nonprofits notwithstanding.
So to me, my mandate is to address that in systemic ways, through working for health care reform. But that’s long and slow, and we can’t let children like Leo have to wait while we get through those solutions. So the other part of the work I think is really important, this is a classic example where we have the health care available in our state, or in our country. We have artificial barriers that are keeping people from taking advantage of it and being able to use it. So this bill does exactly that. It takes out the barriers for people who need to see some of those very rare specialists, especially for kids who need that with urgency for diagnosis. I’m really proud of this bill, the collaboration that we’ve been doing, and I am going to be working really hard to get it through this coming session. Thank you so much, again, for having me.
ERICA: Thank you, Representative Reyer. And as I’ve thought about this bill and listening to Representative Reyer, Anne, I just wondered if you could talk a little bit about what would it have meant to your family? And as I listened to your story and all of the difficulty you went through with getting Leo to be able to be diagnosed, and a specialist, what would it have meant for you and your family if this bill had been in place when you went through that diagnostic odyssey? And we call it the diagnostic odyssey in our community. I think the rare disease community is the only community to use that term, because it is such a journey. So what would it have meant to you if we’d had this bill?
ANNE: Well, thank you again, too, for having me today, and the Minnesota Council of Disability. I appreciate it. I think what this bill would have done for our family is it would have sure been less stress on our family during an already stressful time of trying to deal with our sick child. There would have been less of a financial burden on our family during this time. And one of the main things, too, is I think it would have been a lot less stress on our pediatrician during this time, because she had–she told us after the fact that she really did–she knew something was wrong with Leo, but she knew she had to jump through so many insurance hoops to get us to see the specialist that he needed in a timely manner.
And I think that–I don’t want to say it tied her hands, but I know it hurt her, knowing that she wanted to get this child seen and helped, but she knew there were all these boxes that she needed to check off to do that, and she did it as quickly as she could, and she was there for us. But there are some pediatricians out there that don’t see it that way, too. And I think when you put another barrier of insurance issues that they have to go through, it’s hard on the child, as well as the family.
And that’s the other thing I think we should all remember, is that all this time, and money, and waiting, Leo was really suffering in silence. And I mean, that’s the hardest thing as a mom to get over, and to think of. And as any parent knows, you don’t want your child to suffer at all.
ERICA: Wow, that is such a good, you know, thought, that it’s not just for the family. Sometimes we forget that those pediatricians and those clinicians also want to get patients to the right care, and to the appropriate care, and it can be a burden on them, as well. And an emotional burden, it sounds like, from what you say from your pediatrician.
And it also sounds like, you know, as I hear what you’re saying, and as I engage with families just like yours, Anne, every minute that we have an unnecessary delay to getting a child to the correct care is a minute that that child is suffering, or that that adult is suffering. And so I’m so thankful you’re willing to take what you went through with your family and help us solve these systemic issues.
ANNE: I appreciate that there is a bill out there that’s going to try to do this for families like ours.
QUINN: Well, I hate to cut in, because there is so much to discuss.
ERICA: I was just getting warm.
QUINN: I know. We’re just getting warmed up, the four of us. But there are so many amazing things to talk about today, and so I know this conversation will continue. You know, thank you, Anne and Leo, Erica, and Representative Reyer for this conversation today. We look forward to the day when families that face rare diseases are able to access the health care that they need and deserve.
So now, sadly, but happily, I’m going to turn it back to Trevor for our next segment.