When Susannah Savitsky of Parrish, Florida, attended her first Myotonic Annual Conference she had no idea that it might help save her mother’s life. "I just kind of happened upon it, and I thought it would be interesting," says Susannah, who attended with her father and mother. Susannah’s mother has myotonic dystrophy type 1 (DM1).
An anesthesiologist who spoke at the conference "gave a lot of good information about anesthesia and its effects on people with myotonic dystrophy," she said. "He actually gave out his cell phone number and said, 'If you ever have a question or your doctors have a question, you can call me.'"
That proved fortuitous, as Susannah’s mother ended up needing several surgeries. "My dad actually reached out to him [Dr. Neal Campbell] because my mom was having surgery, and the local hospital had questions about it. He was very helpful." (Access the Myotonic Anesthesia Guidelines.)
Susannah is a 48-year-old entrepreneur with her own real estate law practice. She also has two teenagers that keep her busy at home, and she helps care for her mother. Susannah also has DM1.
She follows the Myotonic Facebook page and belongs to two Myotonic online support groups, one for patients and one for caregivers, now that she has become involved in caring for her mother, who is disabled from advanced DM1.
She is busy juggling so much that she often can’t tell if her fatigue is normal for her situation or a symptom of the DM. "So much of what I see as symptoms of DM at this point in my life can be confusing. Is it DM or is it just aging? Is the daytime sleepiness because I’m just being a bum and sitting on the couch, or is it that my body is tired from the disease?"
Myotonic, she says, has been a great resource for her. "It’s really nice to be able to share and bounce things off each other, to ask, ‘Is this part of the disease?’ or ‘Does anybody else have this burning sensation in their legs?’ or ‘Has anybody tried this medication?’
She says, "There isn’t always information when you go to your regular doctor, so it’s good to have that to help you fill in some of the blanks."
Susannah says she wishes the DM community had been as fully developed as it is now back in 1998 when she was pregnant with her first baby.
"We were under the impression that the type of DM that was in our family—the adult-onset form—would be the one to affect any children we might have, and that by the time they got to the age where it might affect them, there would be a lot of resources, if not a cure."
But no one had told Susannah and her husband, Jamy, that there was a serious, congenital-onset form of DM1 (CDM), that her baby could be born with it, and that a baby at risk for CDM should be delivered in a medical center equipped for high-risk births.
"I honestly didn’t even know there was such a thing," Susannah recalls. Fortunately, Logan was born without complications and turned out not to have the DM1 genetic mutation.
When she learned she was pregnant again in 2000, Susannah and Jamy decided to do prenatal testing to see if the baby was affected and, if so, to go to a major medical center for specialized care. Fortunately, that proved unnecessary, as baby Serena, like her brother, was unaffected by DM1.
"I was lucky it all worked out for me," Susannah says, "but I was pretty angry at the doctors for not explaining why this was important."
These days, she says, there’s so much information available on the web and at conferences through groups like Myotonic that people can much more easily learn what they need to know. Learn more about myotonic dystrophy and family planning.
"I try to be supportive when people are having a bad day or need to vent," Susannah says of her participation in online Myotonic support groups. Recently, through the caregiver group, she reconnected with a long-lost friend of the family who lives in Tampa. And she’s reached out to support newcomers.
"The other day, somebody posted on the caregiver page that they were new to the group and lived on the east coast of Florida. I logged in and said, ‘I’m on the west coast. If you ever want to talk, I’m two hours away, so I’m relatively local.’"
She has found that the support and knowledge that has come from her participation in the Myotonic community has helped her to connect with people with other disorders, too.
"I have a good friend whose adult daughter, in her 30s, has something neurological that they haven’t quite narrowed down," she said. "My friend is having trouble understanding her daughter’s decisions and thought patterns. I’ve talked with her about the depression that comes with a [disabling] disease. It’s very frustrating to feel like you’re losing your independence."
Budgeting Energy, Planning Ahead
Susannah says she’s learned to budget her energy by thinking about it this way: "It’s like a bank. You only have so much money in the bank. If you use your energy to climb stairs, that’s energy you may not have for, say, carrying the laundry. Part of this disease is realizing that there are just so many units that you can use of energy, and if you use it for this, you can’t use it for that. So pick and choose your battles. I can hire somebody to mop my floors and clean my bathrooms, or I can do it, but that ruins my weekend, because I spend the rest of the weekend sore and exhausted. It’s worth it to me to pay somebody else to do that."
She also says planning for the future helps her feel more in control. "Every family’s got something. It might be cancer or heart disease. At least with myotonic dystrophy, we know ahead of time some of what’s in store for us, so we can plan accordingly. When we bought a house, we bought one without stairs because I didn’t want to be doing stairs as I got older. We know what we’re up against, so we can prepare. We need to make sure that we have everything in place."
Read more community stories about members of the Myotonic community.