04/21/2026
OUR FAMILY’S HISTORY WITH ATS
Our family has been dealing with ATS for three generations. This is our family’s story and how the disease was discovered.
My mother (born in 1967) first experienced symptoms of PP at the age of nine, when the triggering factor was likely an influenza infection. The attacks then occurred at one-year intervals. Seven to ten days of paralysis, which gradually worsened until she could no longer walk, and then gradually subsided.
At the time, in Czechoslovakia, it was not possible to travel abroad or consult with foreign experts. Doctors in our country did not know how to treat such a disease. My mother spent many vacations in the hospital, both as a child and later on, but no diagnosis was ever found.
With the onset of menstruation, when she was 11 years old, the attacks became linked to her cycle (usually about a week to ten days before, and then improvement came with the onset of menstruation, though there were also attacks that lasted significantly longer).
At first, only my mother’s legs would go numb; gradually, as she aged, other muscle groups were affected—her arms, back, neck, face… Currently, her attacks are milder, but they focus more on her internal organs (heart, stomach, intestines).
My mother studied theology in college. Thanks to some professors’ contacts with the Western world, particularly with the Diakonie in Geneva, they managed to secure a so-called “Freie wissenschaftliche Bett” for her at a hospital in Würzburg in January 1989.
She was also able to travel to what was then West Germany. In Würzburg, she was diagnosed with hypoPP (with the help of a facility in Munich, where they performed a muscle biopsy).
My mother was prescribed Diclofenamide, and even after returning home, she remained in contact with Professor Ricker. She brought a year’s supply of medication with her in her suitcase, and in January 1990 she was admitted for a follow-up hospital stay, which was already much easier (thanks to the change in circumstances that allowed her to travel).
In 1996, doctors at IKEM in Prague saved my mother by implanting a pacemaker, and six months later, a defibrillator as well. After many ups and downs and various complications, my mother now has a subcutaneous defibrillator implanted and is on disability retirement.
In 2003, a request came from Ulm, Germany, to collect blood samples from all relatives on my mother’s side to learn more. The result was a confirmed gene mutation for ATS in my mother (without prior heredity) and the same mutation in me with a 50% chance of inheritance; my older sister is healthy. A series of photographs, questionnaires, and letters followed. First with Professor Ricker, and later with Professor Lehmann-Horn.
I first experienced the attacks myself when I was 11 years old (roughly a year after the diagnosis). I first felt weakness in my hands at school while taking notes; once a year, I had a very severe attack in my legs lasting about 14 days. Over the course of two years, the attacks became more frequent, but not very severe. From the age of fifteen, they became linked to my menstrual cycle, just like my mother’s. Over time, however, the attacks became stronger and lasted longer (up to 14 days).Sometimes just my legs, sometimes my arms, or just my arms. As an adult, however, there were periods when the attacks were almost invisible on the outside. In recent years, though, they’ve started affecting my internal organs more as well (heart, stomach, intestines).
On top of all that, I’ve been diagnosed with ADHD since childhood.
Until I was 15, I managed without medication. Then my mom and I both took a drug called Fenamid, which we were able to import from Italy. But they stopped manufacturing it after a few years, and we went without medication for about a month. That was tough. I could only move around well around the time of my menstrual cycle; otherwise, I was like a rag doll. Our doctor at the time prescribed Diluran, a Czech-made medication. It’s a drug for intraocular pressure that contains acetazolamide. Thanks to it, we can move around. The medication has quite a few side effects; one of them is a burning pain or even temporary loss of sensation in the soles of the feet and palms when the dose is increased during an attack.
Today, I am almost 32 years old and have two children. Both births were high-risk (I gave birth naturally to both), and I never had contractions throughout my entire abdomen—only in the lower part. My older son (born 2019) is healthy, but my younger daughter (born 2022) inherited ATS. A DNA test shortly after her birth confirmed it. About a year and three months ago, the disease manifested in her as well; she wasn’t even three years old yet. The attack was very severe; her legs became completely paralyzed, and it took three days before she was able to stand on them again with full strength. Since then, she’s needed to be watched closely. She’s very active. During hikes in rough terrain, she quickly runs out of energy. Fortunately, it doesn’t lead to complete paralysis, and so far, it’s enough for her to just rest.
We’re all under the care of geneticists, neurologists, and cardiologists (my daughter is currently just being monitored). I’m on beta-blockers (nadolol), which have been sufficient so far.
Despite all this, my mother and I try to live a full life, and I try to ensure the same for my daughter. Although I am also on disability, I still go to work, devote myself to my family and my dogs as best I can, and do everything I still have the strength for.
AL, Czech Republic (Europe)
