Over the years, Erin Peterson and her daughter, Everly, better known as Evie, have become an integral part of our Gus Gear community. In part 1 of this exclusive interview series, “Rays of Hope,” Gus Gear’s Director of National Clinical Growth, Amy Braglia-Tarpey talks to Erin about Evie’s diagnosis with the rare Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).
At the time of Evie’s diagnosis with MMIHS, she was 1 in 250 million with the rare syndrome. As such, research was scarce (and still is!). In fact, while Erin’s family started the website MMIHS.org out of personal need, they quickly became a trusted and often referred to resource for others around the world.
Through nonprofit work, Erin is raising money for other families on similar medical journeys who desperately need better and more funding and research on MMIHS. The hope is that by studying rare conditions, we can better serve those who feel the impacts.
ABT: Can you introduce us to your amazing little girl and whatever you’re comfortable sharing about your journey?
EP: My husband, Brody, and I have been married now for eleven years. We had Evie eight years ago. Brody is the manager at a farm machine company and I had just finished my PhD in Education. I graduated, and a month later, Evie was born. It was quite the whirlwind from there. We are planners and everything had kind of been planned up until that moment, and when Evie was born, we knew there was an issue with her bladder. All the ultrasounds we had done showed an enlarged bladder.
We thought that, at most, it would be a minor surgery to fix her bladder. And when she was born — in Fargo, North Dakota — it seemed to be fixed. We were excited about that! Then, a day later, she started spitting up bile and we couldn’t figure out what was going on. We thought it was a meconium backup in her intestines.
She was about a day old when she had her first surgery to try and fix that and from there on we just kind of waited in the NICU. The problem did not resolve itself; she continued to spit up bile and we had no idea why. Every day they would come in and test something else — her nerves, her brain, I mean everything under the sun. Nobody could figure out why she was not able to consume calories.
We were there for a month and the last day one of the doctors had spoken to a colleague of his out east about all of her symptoms. That doctor said, “It sounds like this rare syndrome that I’ve heard of one time called MMIHS. And the next day she was on a plane to Milwaukee, Wisconsin; we drove there. Sure enough, a genetic test did confirm that she did have Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).
We were told that the rarity was 1 in 250 million at the time. We knew of no others like her in the world, so it was quite scary, but we felt good that we were in a place that specializes in GI care and kind of had a plan now that we knew the syndrome.
She spent three months in the NICU in Milwaukee. Basically, MMIHS affects the motility of Everly’s bladder and gastrointestinal system. We all have these smooth muscle tissues that kind of contract and help push our food and help with our bladder as well. Those muscles around her intestines and bladder don’t contract the way others do, so she isn't able to consume calories by mouth. Instead, a supplemental nutrition called TPN is delivered straight into her bloodstream for 16 hours a day. Everly has a central line in her chest.
She also has a G-tube for medication administration. Then she has an ostomy to help her abdominal distension. Related to her bladder, Everly is cathed every 4-6 hours. She’s had about 8 surgeries in her life to replace her central line, to get her ostomy placed, etc. She’s been through a lot, this little one. She just turned eight this September, so to say that she’s familiar with the medical world is quite the understatement.
We spent several months in Milwaukee and at that time she had her central line placed — at that time it was actually in her leg. Then, before we went home, she had her g-tube placed as well. If you don’t laugh you cry, so we have to kind of laugh about the idea that eight years ago, we had no idea TPN was even a thing. And now we are very familiar with it because that is how our child lives.
A year later she had her ostomy placed, and I would say about seven years later we now feel like we have a little bit of a hold on this whole syndrome. Our life is certainly not typical but we finally feel like we’ve gotten into somewhat of a groove. In our everyday life, about every 4-6 hours, Everly has some pretty extensive medical care that my husband and I complete.
She has specialists all over to kind of help us figure out this MMIHS world. We have a team in Grand Forks and Fargo North Dakota. Her main children’s hospital is in Sioux Falls, South Dakota, and then she does a transplant evaluation in Omaha, Nebraska every other year. So, we have quite the list of doctors who have helped us navigate this world with Everly.
When Everly was first diagnosed, like I said, we knew of no other like her. We were given one outdated article that basically stated we had a year with her, so it was very scary. My sister actually started a website called MMIHS.org and through that we have found others in the world. It’s been amazing; doctors are wonderful but when they have never seen it before, they’re trying to figure it out too. So to be able to lean on these families… We also have a support group through Facebook that we lean on.
Now we have our nonprofit — our MMIHS nonprofit that we’re trying to raise some money for to help families. This year we have our first grant, so we’re looking for medical professionals who want to research MMIHS because there is no cure at this point and no research really being done on her syndrome. It’s very complex.
ABT: Can you tell us where people can find your foundation if they want to make a donation?
EP: So the website is MMIHS.org and right on that front page there is a donate button and all of that money goes to helping families who are living with this syndrome and research. And there’s lots of families on there who are sharing their stories of MMIHS and just a lot of information that doctors are even using now to kind of navigate this world.
ABT: Thank you for the advocacy work that you’ve done. I think it’s so challenging for families and people with rare diseases to find this kind of support, especially for one so rare as MMIHS.
EP: Yes, we’ve learned a lot and it’s been a pleasure. There is nothing better than advocating for your child. I always find it interesting because all the research and stuff that I had to do in my training for my PhD — my life sure took a turn and it’s different than what I would have thought — but the cool thing is that all of the stuff I learned in school, I’m actually using to help research and advocate for my daughter. It’s not the road I imagined, but certainly one that I’m grateful for.