This article was published in the Dystonia Dialogue.
The path to becoming a parent for individuals in the dystonia community is as varied as society at large. There are more options than ever for having children: biologically, via reproductive medicine, fostering, and adoption. Parents with dystonia may encounter challenges that parents without health issues might never imagine. Here are two parenthood stories from the dystonia community.
The Downey/Botman Family
When John Downey began showing symptoms of dystonia at age 13, his parents knew exactly what it was. Because of a known family history, John was promptly diagnosed with DYT1 dystonia, an inherited dystonia that typically begins in childhood and progresses throughout the body and limbs. Dystonia caused John’s left foot to turn inward, causing difficulty walking that worsened as he got older.
John relocated from Indiana to Chicago to pursue a career as a software developer. His view of the future included conflicted feelings about having children, both because of the physical demands of parenting and the genetics of DYT1 dystonia. Carriers of the gene mutation for DYT1 dystonia can pass the disorder onto their biological children. “I was really kind of against having kids because I struggled so much with dystonia, was in pain a lot of the time, and I did not want to bring another person into that,” he said.
Consulting an internationally recognized movement disorder neurologist in 2012 proved “life-changing.” For one, she outlined a treatment plan with several new options to try including oral medications, botulinum neurotoxin injections, and, if needed, deep brain stimulation. John was surprised when she asked if he had given any thought to family planning. She explained that some families with DYT1 dystonia were using in vitro fertilization (IVF) and pre-implantation genetic testing (PGT) to essentially eliminate the risk of future generations being born with the dystonia-causing mutation. IVF is a method of assisted reproduction that involves combining an egg with sperm in a laboratory. PGT is a group of techniques to examine embryos during IVF for a range of genetic problems before possible transfer to the uterus. The physician encouraged John to contact the Dystonia Medical Research Foundation (DMRF) to connect with couples who had pursed this option, if he was interested. Until this interaction, John explained, “I didn’t understand the genetics enough to know that IVF and PGT could be a viable option for me. I didn’t even know what PGT was, and I had a loose understanding of IVF.”
John and Mara Botman started dating in 2013. Mara works in non-profits and had lived in Chicago since college. “I was always very embarrassed about my dystonia, people would look at me funny,” said John. “I intentionally tried very hard to hide it from her at first. I would always walk behind her when we were at restaurants or out together because it was a hard conversation to have.”
A few dates in, John shared what dystonia was and how it affected his life. Mara was immediately supportive. “My biggest goal for John was always figuring out what he could do to increase mobility and comfort,” she said. “I was fortunate to have a very well-educated partner in John. I did go to some of his doctor’s appointments with him, and I was always eager to be there. But it was less for an educational experience and more of wanting to advocate for him to consider all his options.”
When the couple started talking about the future and the possibility of a family, Mara was unfazed by the idea of consulting a genetic counselor to discuss options for reducing the risk of their children developing dystonia. “I’m from a Jewish family and genetic counseling is very common in the Jewish community given all the Jewish genetic disorders, so it felt like genetic counseling that I would do any way,” she said.
Similarly, she was open to learning about IVF and PGT: “I always assumed I would want children and doing in vitro seemed like something that people sometimes did based on genetic counseling. None of this seemed particularly extreme. It seemed much more like a planning hurdle.”
On Valentine’s Day in 2015, John had deep brain stimulation surgery (DBS). “I saw a pretty tremendous response from that,” he said, in terms of reduced dystonia symptoms and pain. “It was great for a while. It was really good. We took a lot of trips, we were a lot more active.” The couple married in 2016.
The success of DBS further convinced John to seriously consider IVF and PGT. “I went on this tear of, yes, everything I can do to leverage science and technology to improve my life, why wouldn’t I try to leverage that? After DBS, I even got Lasik,” he laughed.
John joined the Board of Directors of the DMRF and the couple connected with others in the dystonia community whose families had undergone PGT. Mara reached out to a friend for a recommendation for an IVF clinic. The consultation with the IVF clinic set the process toward parenthood in motion.
IVF is not a single treatment but a series of procedures. PGT is a step in the process. An average IVF cycle takes months from the first consultation to—hopefully—a successful pregnancy. The process is complicated and unpredictable. “A logistical nightmare,” said Mara. She elaborated: “I was going to a clinic three days a week and getting shots and giving myself shots and getting blood taken and all that stuff. It was a lot of medication in my body, extending the pregnancy process in a way that I didn’t fully appreciate. I also didn’t realize how long it was going take. You have to find the right doctor. You have to make sure the clinic has capacity for you. You have to order the medication. You have to get the right timing to start the medication.” The couple also had to figure out what aspects of the process were covered by health insurance and what would be paid out of pocket, very little of which was straightforward or even logical.
Lewis was born in 2019. He was named after Mara’s father who died when she was 9 years old. “He is a happy, delightful baby,” said Mara. “I was very, very sick during both the in vitro process and pregnancy, and so it was a tough year, and then he came, and he’s this delightful child who loves the world.”
Like many new parents, John jokes that he did not entirely anticipate how drastically life would change after becoming a dad. Or how sweet the rewards would be: “Every time he snuggles into you or learns something new, it can take even the worst day you’re having and make it good again.”
Becoming a parent also gave John a deeper appreciation for parents of children with dystonia: “When I go back and talk to my parents, I feel a little bit closer to what they were going through. Until I had a child I never would have been close to understanding how painful it is to have your child struggle with something like dystonia.” A second DBS procedure in 2018 helped control the increasing dystonia symptoms John began noticing in the years before Lewis was born.
At the time of the interview for this article, Lewis was a year and a half old. He was learning lots of new words, loved books, and enjoyed woofing at dogs encountered on walks in the neighborhood.
Mara reflected, “I was sitting in a room with a lot of board games and I think about the Candy Land game and Chutes and Ladders—for us, becoming parents was very much this complicated journey as opposed to a straight line. That’s how I think about it: three steps forward, one step back, but eventually you get there. And it’s all worth it.”
The Dorner Family
“There are unique aspects of parenting with a disability that somebody without a disability isn’t going to have to think about, and that’s okay. We just have to figure it out,” explained Jenelle Dorner. Jenelle is a longtime DMRF supporter and moderator of Parenting with Dystonia, a private Facebook group created by DMRF.
Jenelle is diagnosed with dystonia and gastroparesis, a disorder that prevents food from moving normally through the digestive system. The dystonia and gastroparesis are caused by underlying mitochondrial disease, a chronic genetic disorder that occurs when a person’s cells cannot produce enough energy for the body to function properly. For years she has battled dystonia, malnutrition, fatigue, and pain.
She was a 19-year-old college student when the health challenges began with a sudden onset of dystonia triggered by medication. Despite recurrent illness and hospitalizations, the mitochondrial disease would remain undiagnosed until she was in her 30s. In the meantime, she adapted to using a wheelchair for mobility, got a service dog, and married her husband Greg in 1999, shortly after she finished her Bachelor’s degree.
Jenelle obtained a Master’s degree in motor control kinesiology and got to work toward a PhD in neuroscience. The demands of graduate studies were grueling, but ironically some of her chronic symptoms stabilized when she became pregnant. “I was so healthy during my pregnancy that it was kind of crazy,” said Jenelle. “At that time, I didn’t have the mitochondrial disease diagnosis, but we knew I had dystonia and my dystonia was a lot better.”
Leif was born in 2005. He was named after one of Jenelle’s mentors, a reproductive physiologist who would push her around his farm in a wheelbarrow when the mud was too thick for her wheelchair.
Given a history of unusual drug reactions, Jenelle said she was “adamant” about not having an epidural or medications during delivery. She prepared for a natural birth, enlisting the help of a labor coach. After 22 hours of labor her son came into the world weighing well over 9 lbs. “Looking back on it, I have no idea how I did it, or really what the heck I was thinking!” laughed Jenelle.
At home, Jenelle and Greg got creative about accessible parenting. They had a crib that swung open sideways and a changing table that could be lowered to the floor in case Jenelle didn’t feel she could lift Leif safely. “My wheelchair was an asset because I could put a baby sling on and he was right there in my lap, or eventually he could climb into my lap and I didn’t have to worry about picking him up as much,” she said. “This is kind of funny, but when he was really tiny, I would put him in the laundry basket and drag the laundry basket around the house.” Greg was able to work part-time temporarily after Leif was born. Then they hired a nanny to help occasionally with housework and caring for Leif.
When Leif was two years old, Jenelle was hospitalized with life-threatening complications from mitochondrial disease. She was in intensive care for two months. She recalled, “That’s the first time I remember thinking, wow, I don’t know if I’m going to be here for Leif, and it was really important to me to be here, on Earth, to parent him.”
Jenelle remained passionate about a career in neuroscience, but slowed the pace of her research to spend more time with her son. “After I got my PhD,” she said, “I was completely IV-fed, plus fluids, and I was having respiratory problems, all kinds of mitochondrial disease symptoms, and I realized it’s going to get worse if I keep stressing myself like this. I went on postdoc interviews, and I was thinking I can’t do this.” Jenelle decided to focus on stabilizing her health and being a mom. “I felt this intense loss, like I lost my intended career, and I was very depressed when that happened. Yet motherhood gave me purpose and helped me find new things in my life that I wouldn’t have had if Leif wasn’t there.”
Multiple prolonged hospitalizations when Leif was a toddler were the most difficult times. Jenelle explained, “When kids are that little, like between two and five, they don’t under-stand what’s happening, and they don’t know why you left them. They think you left them. And at times I did.” She came to recognize those separations as opportunities to strengthen their relationship: “We’ve been forced to take these little breaks when I’ve been sick, or there was a time he was in the hospital and I was at home missing him, and it makes you recognize how important you are to each other.”
When Leif was old enough to attend school, he enjoyed introducing the other kids to Jenelle’s service dog Herbie. Jenelle and Herbie would do presentations to Leif’s class each year. “Service dogs are a big catalyst to social interaction and teaching kids about disabilities,” said Jenelle. “I think that made Leif feel okay about his mom, and for the other kids to feel okay about peers that had disabilities—and to learn about service dogs. It was fun.”
As Leif grew older, the resources Jenelle counted on for assistance evolved. Her parents and in-laws have been ongoing sources of support. Her mother, an expert in special education, was especially helpful with navigating how to communicate with Leif in an age appropriate way when challenges or issues came up. As needed, Jenelle and Greg involved Leif in play therapy, cognitive behavioral therapy, and other therapeutic activities to build resilience.
Leif is now 15 years old. He is a big help to his mom, whether by doing laundry or walking the dogs. They read together in their own little book club and have in-depth philosophical conversations.
Jenelle has weathered numerous feeding tube surgeries and complications, intravenous feeding to her heart, immunoglobulin (IVIG) infusions to fortify her immune system, and years of trial and error with medications and supplements. At the time of this article, she was anticipating yet another surgery to fix a painful stomach tube.
“Parenthood is very challenging, but it’s something that can be empowering and provide growth to your soul, to you as an individual and your understanding of other human beings in the world, because you are nurturing someone else,” said Jenelle. “Not everyone has that desire, and that’s okay. We all have our own journey. But if you do have the desire and the willingness to put your heart into loving a child, and learning through those challenges and hardships that are inherent to life or living with a disability, it can be a very a wonderful journey.”
The Dystonia Medical Research Foundation is a 501(c)(3) non-profit organization dedicated to advancing research for improved dystonia treatments and ultimately a cure, promoting awareness, and supporting the well-being of affected individuals and families.