I’m Aware That I’m Rare: Sarah Stone (491)

the phaware® interview

Sarah Stone shares the story of her family’s journey with rare medical conditions in North Central Minnesota. Sarah’s life took a turn when her daughter began showing unusual symptoms, eventually diagnosed with pulmonary hypertension, a rare condition complicated by her family’s genetic predisposition to HHT. As their medical challenges unfolded with two of her three children facing life-threatening conditions, Sarah discusses the trials of managing these complex issues while living in a remote area. She delves into the lessons learned, the importance of specialized medical care, and the determination to live life fully despite the circumstances.

My name is Sarah Stone and we live in North Central Minnesota. We are a family that has a few rare things going on, pulmonary hypertension as a result of HHT. We’re a family of five, and this is our story.

My husband and I got married and didn’t have kids for a while, and we wanted to start a family and we adopted our oldest son as a newborn. Then, we had two surprise babies that came along after that that we gave birth to. Everything was great. The pregnancy was great. The birth was great. Since we live in a remote area of North Central Minnesota, we did not want to be on the side of the road trying to get to the hospital that’s about an hour drive away. We just chose birth at home for safety reasons. We had a great team working with us and felt really comfortable and confident about all that. All that went wonderful.

Then, about 15 months into our new life with our toddler son and our 15-month-old daughter, we were newly living up in northern Minnesota for approximately a year. I had to keep taking my daughter into the doctor, because I just felt like something wasn’t quite right. She had curious breathing things going on. I thought she’s breathing quite heavy today, or she seems tired. I kept bringing her in to see if there was maybe bronchitis or pneumonia or just what was going on. Each time, things checked out fine. No clinical signs of bronchitis or pneumonia is what my very uneducated, ignorant brain was thinking of, because that’s all I know of when I would hear about breathing issues.

I’m not a person to compare kids. Every kid is unique and has their own pathway of development within certain parameters. She just seemed kind of low-key compared to her cousin and I thought, “Oh, this poor child. Is she going to be a quiet kind of wallflower child and she’s stuck with this really outgoing, people-person kind of mom?”

At that point, when she was about approximately a year old, she was breastfeeding a lot more and she was really struggling with sleep at night. I was just exhausted thinking, “Oh my goodness, she’s supposed to be feeding less and why is she scream every time I try to lay her down.” I would end up just holding her in the rocking chair while she sat up and was sleeping sitting up. I later learned in hindsight from her pulmonary hypertension specialist out at CHOP a couple of years later once we got connected with a peds PH team, which is really important to do.

Pediatric cardiologists are wonderful, but they’re human and not everybody can know everything about every possible rare disease, so it’s really important for families to get connected with a pediatric pulmonary hypertension specialist.

I learned in hindsight that the reason it was so hard for her to lay down and she would be screaming at night is because that great pressure that she felt on her chest, which I hear from adults described as an elephant sitting on your chest. As a one-year-old, she would figure out how to communicate that to me with a very specific high-pitched frequency or pitch of squeal that I could not do anything except obey what she needed or wanted. The only way I can think to describe it to people is that it was like an ice pick. It pierced a certain part of my brain, the certain sound she would make. She was super smart. I think it’s our job as the adults that have language to just figure it out and read their signs they’re trying to give us. She was able to communicate to me how to care for her even though she didn’t have words, because she was just a one-year-old.

We would sleep sitting up in the rocking chair. She had given up pulling herself up and she had given up walking along furniture. She just would be happy to sit in the middle of the floor and play with some blocks and whatever as a one-year-old. She had the ability to walk. I was really puzzled thinking she must not have some sort of neurological involvement. If it is neurological involvement, it must be intermittent, because she is able to walk and she is able to do these coordinating things, so I don’t know that it’s necessarily something with her brain. So as a mom, I’m observing this, troubleshooting it and just knowing there’s something wrong.

To be fair, pulmonary hypertension is really tricky to correctly diagnose. My opinion is that our daughter had a very quick diagnosis, even though it might sound like it was kind of a long road from 9 months to 15 months, but that’s nothing compared to what a lot of people go through being misdiagnosed or undiagnosed for many years in their life.

She was feeding so often, because she needed calories. Little did I know, but her heart was pumping like crazy. I remember my mom saying something to me like, “Look at the artery in her neck.” She said, “Look at how much that’s pumping and pulsing.” It was something where this pulmonary hypertension, now in hindsight I know, had come on gradually. I could not tell the difference, because I was seeing my daughter every day, whereas my mom saw her every once in a while, because we live about four hours away. She said, “That neck artery pumping, that doesn’t seem quite right.” From that, in hindsight now we know, that at that time her heart was working really hard. I took her into our local clinic and I was just like, “Something’s not right with her breathing. Hi, I’m the crazy mom that’s here again. Will you please check her out again?”

Our doctor looked at her again. She said, “Well, I can’t find anything clinically wrong. Let’s just take a look at chest X-ray images.” She took a picture of Evelyn’s chest via X-ray. She came back to me and she said. In so many words, she was very cool and calm about it, but she was like, “This isn’t good. You’re going to go to higher care today. We’re going to call some kind of transportation, a helicopter or ambulance. Her heart is really, really enlarged and I’ve spoken and consulted with a heart person who knows more about this than me, and we are going to get you to higher care now. Today, in the next hour.”

We live in a part of North Central Minnesota that the nearest village is like a hundred people and then the nearest town is like 400 people. But at that town, in Bigfork, Minnesota, there is an excellent rural critical access regional medical facility that we can take a helicopter or an airplane and get to higher care.

Living where we live, sometimes there’s challenges with things turning into a possible wilderness context, you could say, which I believe if I’m up-to-date on these terminologies is getting to higher care like an ER in two hours or less. Living up here, we’re always figuring out how to think pre-emergently and to give ourselves the best advantage to get the best care that we might need. Actually, what happened at that time is there was a lot of snow and there was a snowstorm going on, so there was no helicopter or fixed-wing aircraft available. We ended up having to take an ambulance. Instead of the four-hour drive down to the Minneapolis area, we had to take an ambulance ride two-and-a-half hours to Duluth, Minnesota where we were in a peds ICU-type setting.

Here’s how ignorant I was about all of this kind of thing. Looking back, we’re in Duluth and we had a really great young doctor there. He was sitting there with us along with a nurse, and I thought, “Wow, this is so great. They really have great customer service, because here I am one-on-one. We’ve got a whole nurse to ourselves and she really seems to be paying attention to only us. Wow!” I think back on that sort of humorously, because I realized, well, it’s because my child was probably near death, because she had such an enlarged heart. She was in a dangerous situation. We were at that hospital overnight and they took really great care of us and then they put us on an airplane immediately the next morning as soon as they could get us out of there. We were taken down to Minneapolis to Children’s of Minnesota where Dr. Charlie Baker helped us out.

He was the lucky or unlucky guy that had us as a patient that day. I feel like we were very blessed to have him. He said that he had done a heart catheterization. Another thing I like to laugh about is poor Dr. Baker, his face, he looked like he had seen a ghost. I thought, “Wow, this guy needs a vacation. He needs to get out from under these fluorescent lights.” Here I am concerned about his well-being. He could use some sun. Honestly, he was probably kind of pale, because he had just been the doctor in the catheterization lab performing the heart cath and was probably not able to believe this bad report that she was so bad off. Basically, the doctor said, “What we can do is go ahead and try a systemic vasodilator called sildenafil and see if she responds to that. If she does, awesome. If not, then we’re looking at some sort of transplant consideration,” because at the time her heart was so, so, so, so, huge, huge, and enlarged.

She did show trending in the right direction of improvement. She did respond to the systemic vasodilator. This was in December, when she was correctly diagnosed. By August, essentially, she was labeled as out of heart failure. So that was awesome. We were really happy about that. She was on the oxygen 24/7. In the winter, it was really great. She would just pull a little sled. She was very independent and would just pull a sled around with her oxygen tank in it if we wanted to be outside. We live in a cold climate. She has always been really busy and active and enjoyed just living her life. We decided that this is her life, she doesn’t know anything any different.

My husband and I had worked with a lot of different people with special needs over the years, whether it be cognitive or physical, or both. Some of the families and kids that we really respected and really were impressed by were families that didn’t put limits on their loved ones. They, within reason, allowed them to push their boundaries and figure out who they could be and to not feel sorry for them. This is their life. Something we realized is, it’s kind of silly to feel sorry for people because that would be like feeling sorry for me, because I have blue eyes or feeling sorry for me, because I’m right-handed. It’s just life and it’s just how we are. Let’s deal with that appropriately, but it’s not something that needs to necessarily be felt sorry about.

We found out that we needed to have a pediatric PH team would be the wisest thing. We somehow found the Families of Children with Pulmonary Hypertension Facebook group that was started by a mom out east. We joined that group. We learned from people there that it’s super important to have a pediatric PH team or doctor that’s managing the care of your child because there’s all these, “yeah, but” situations and things that people and other pediatric cardiologists don’t know that they don’t know or they just haven’t had the experience or the opportunity to practice because it is a rare thing. Pulmonary hypertension is rare.

So we went to the pediatric doctor that we were most acquainted with and comfortable with, which was the team out at CHOP, which is in Pennsylvania. Mind you, we live in Minnesota. We chose that team. They’re all really great. Way back then it was Dr. Brian Hanna. We interviewed him and he talked with us to see if we all wanted to work together, but we had decided to go with that team, because we had met Steve Walker at the PHA Conference, which at that time was in Indianapolis. Evelyn was around two years old when she started doctoring with the team at CHOP. They were awesome, and their whole team was awesome. Dr. Hanna recommended that she be on subcutaneous infused Remodulin. That was the second of three possible PH meds that she started as a toddler. Then, she was on sildenafil. About that time that we were starting Remodulin, I was really feeling sick.

We were at CHOP for the first time. I just remember being very, very nauseous. Well, maybe I’m under a lot of stress. Maybe I haven’t had enough water. We have just been flying on airplanes and we are dealing with this highly stressful rare diagnosis and all these decisions to make about new medication and whatnot. I didn’t know. Maybe I was having some sort of acute stress reaction, ASRing in my own way or something.

Turns out I was pregnant with our second surprise baby. Now, unbeknownst to us, heading towards the HHT understanding. Learning that I was pregnant, we shared that with the team at CHOP. Dr. Hanna even ordered that it’d be really wise to have certain unique checkups done in utero with this new baby that was coming. He ordered a very fancy, high-end… I think it was 3D imaging type ultrasound. So we did that.

Because at the time Evelyn was diagnosed, her PH was diagnosed as idiopathic pulmonary hypertension. They did not know the cause. Idiopathic means no known cause. They did do a simple genetic test for some of the most common genetic markers that can cause pulmonary hypertension. Those results came back normal, so those were not the case. We went ahead and did all these additional tests and everything looked good. So that pregnancy was uneventful, boring, and healthy like everybody wants their pregnancies to be.

Then, Josiah at about three weeks of age, I took him into his well-baby check. Dr. Harmon, our local GP, she did all the normal checking out. His soft spot on the top of his head was full. Not bulging, but it was full, and she was like, “Oh, this is strange.” Given that we already have had these unexplainable things going on with Evelyn, we decided that it would be wise, the doctor said, “We’re going to not mess around. You don’t need to go by ambulance.” But she said, “Go home and pack your things and you’re going to drive down to Children’s of Minnesota today, and we’re going to have them do some imaging on his head.” We thought, “Oh boy, here we go.”

That was a little bit traumatic. We had moved up here because we wanted to enjoy the outdoors and peace and quiet and live our lives and work our jobs and raise our kids in a beautiful northern Minnesota location that people save their vacation time all year long to be able to get away to and vacation in. Here we are having to take airplanes, helicopters, go home, packing your bags, and get down to the ER in the next four or five hours. We checked in at the ER down in Minneapolis and got in to do imaging right away. Sure enough, there was a malformed vein in Josiah’s brain.

It was this vein that we all have called vein of Galen. It was a really big tangled mess. What was happening was, this malformed vein was blocking the flow of the cerebral spinal fluid. It was causing hydrocephalus for him, thus the soft spot being full. We thought, “Okay, well, here we go.” They diagnosed it as vein of Galen malformation is the official name of it, which makes sense.

He did have five embolization surgeries on his vein of Galen malformation from about the time he was one and a half months of age until one and a half years of age. All those went really well. Dr. Jagadeesan at U of M Masonic Children’s did an awesome job and was in great communication being guided by the wisdom and experience of Dr. Alejandro Berenstein at Mount Sinai Medical. Everything went great. Our son was very fortunate to have really great outcomes. He is great in every way. He has no complications from any of his brain surgeries. We’re really thankful for that.

With the blood rushing through that vein of Galen malformation and right to the heart, Josiah was discovered to have a little bit of edema, a little bit of extra fluid on the heart. But somehow his heart adapted and he did not get pulmonary hypertension as a result of the vein of Galen malformation. So then, I’m wondering, what are we doing that we’ve got two kids with vascular types of involvement, and so talked to our daughter’s PH team and said, “Hey, can we do that full panel to test?” I said, “I think we might have HHT,” thanks to something a mom named Kelly on our PH support group on Facebook had shared about her daughter and a lot of the things were the same. She was awesome to call me one day when I reached out to her and I said, “Tell me more about HHT.”

After speaking with her, I said to my daughter’s PH team, “Hey, can we finish that entire genetic panel. I think we might have HHT in our family?” And they said, “Sure. You probably don’t have HHT, that’s really rare, but yeah, let’s go ahead and do that. No problem.” We did that at the next time we were down for Evelyn’s annual right heart cath. We were over in Philly for that. They called back and said, “Guess what? You were right. It is HHT.” So our family has the ACVRL1 genetic variance now is the language. Not genetic mutation anymore, genetic variance. Sounds a little nicer I guess. We have the ACVRL1 genetic variance causing HHT and it’s the HHT that’s causing the pulmonary hypertension.

As you can see, we’ve got a lot of crazy different inroads of rare involvement in our family with the pulmonary hypertension, the vein of Galen malformation, the HHT. We just decided, hey, we’re going to make the best of this. What you get is what you get and you make the best of it. We just have decided as a family to try to live life to the fullest. We’ve let our kids do whatever they need or want to do. Luckily, Evelyn’s pulmonary hypertension is a type of pulmonary hypertension that she is able to be successful in self-regulating and just kind of reading her body and what she needs.

She has enjoyed life learning how to ride bikes and cross-country ski, and run and play. Thankfully, her heart has been mostly anatomically sound. She did have a little bit of a PDA that needed to be closed at around age five. She got all the more efficient with functioning, and so she no longer needed naps.

We’ve just been enjoying travel to go visit family and friends four hours away. We’re kind of the oddballs of our family that we live in this far remote area in northern Minnesota. We have had to travel via Angel Flight out to Philadelphia each year to do Evelyn’s annual right heart catheterizations. She does have AVMs in her lungs, which are causing some left heart enlargement. She does have some aorta enlargement, but we just try to live life to the fullest and take our situation as normal for us.

It’s really challenging and it’s taxing as a caregiver, it can wear on you. It does cause a lot of family challenges and challenges in processing all of this and deciding what to do or not to do in life and where to invest our time and energy and how to enjoy the best life that we can. It’s been a good lesson trying to navigate what’s important to us and taking a look at those things and thinking about those things.

We have had a really great relationship with our local clinic with the different medications Evelyn’s been on. We have a pre-emergent agreement with our local ER that if something’s starting to look like it might be sketchy, we go to the ER a couple of steps ahead of when your average person might decide to go to the ER, just so that they have the chance to call the helicopter, call the airplane and that kind of thing. There was a time where in the different medications Evelyn’s been using, she at one point was on the sub-Q infused Remodulin. Then, she was one of the first, if not the first, on the Orenitram that replaced the Remodulin, because the sub-Q infused stuff, as Remodulin parents know can be kind of barbaric with the many days of debilitating pain. We were ready to try something new and the Orenitram was just in time to be a good fit or a better fit at the time than the sub-Q infused Remodulin.

We went with that and there was not a lot of time to get to higher care if she had some sort of stomach bug or something where she could not keep her meds down or if she didn’t have the right amount of calories to correctly metabolize it. The tricky thing with that medication is that you have to make sure that you do it right, otherwise she would have a debilitating splitting migraines or a horrible tummy ache.

We just over the years have learned to do sort of this pre-emergent thinking. We have been really thankful that we’re able to go and travel with oxygen and go on long road trips out west or even over to Michigan to attend the HHT conference. We just have been trying to be thoughtful and courageous as a family to just do our best to live the life that we think we want to live and not let a bunch of these things stop us. It does take a lot of planning and forethought, but it is possible.

We’ve learned that we can just go and literally live our best lives. It takes a little bit of extra work maybe to pack the oxygen or plan the meds or plan the food to go along, but we do it like that’s a normal part of our life and we make the best of it. We have a POC, portable oxygen concentrator that goes on the airplanes with us for Evelyn, whether it’s a private aircraft thanks to the volunteer Angel Flight pilots that fly people to their higher care appointments.

I also want to just say that for folks that have a family member with pulmonary hypertension, consider somewhere in the Midwest for a place to enjoy making memories with your family, because we do not have to deal with higher altitude that can cause breathing problems for families with pulmonary hypertension. We don’t want to bypass the opportunity to make memories with cousins and make memories with family members and loved ones, and we don’t want to bypass the opportunity for our kids to really experience all kinds of cool things.

We want to be courageous about it. We want to get out there and live life and not just be fully arrested by the different rare disease considerations, but to just push the boundaries a little bit. It might be a great fit for other families to try to think a little bit outside the box and figure out, well, what can we do? Instead of always thinking about what we can’t do, what can we do?

There’s a lot of ways to think about and realize what is possible and what can be done. I just want to be somebody that encourages families to think positively and think what it is that you can do. You’d be surprised that there are resources there and people that are happy to be in your corner of the court cheering you on to live your fullest life possible, that are there to support you and happy to do so.

My name is Sarah Stone and I’m aware that my family is rare.

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