ULD patients share many common experiences, yet each case is also quite unique. On this page, we will share some glimpses into the lives of people who have experienced ULD.
Mike at age three with his dog, Dusty, and his sister, Stephanie.
(Left) Mike shortly after falling face first and breaking his nose, both of which have happened repeatedly. After several nose breaks, Mike took to just repositioning his nose by himself, after one fall.
(Right) Mike looking more like himself, but still sporting some battle scars from another fall.
As a child, Mike was known as a quick-witted fun-loving athlete with a heart of gold. In the first grade, his life began to change, as tiny signs of a neurological problem began to emerge. He first complained of not being able to see for a moment, and later, he complained of not being able to hold on to things.
By second grade, tiny, very frequent myoclonic jerks were showing up in his arms and upper body. We held off on using anticonvulsants until he had his first tonic clonic (grand mal) seizure. It happened one night after he fell asleep. He had gone to a Cleveland Cavaliers game, and the crowd, lights, and noise caused constant myoclonic jerks that became more violent as the night wore on. That night, as he fell asleep amid many upper body jerks, he had his first tonic clonic. He stiffened, then jerked violently, with his head turned to one side, turning blue as he seized for what seemed to be forever. This heralded the beginning of heavy doses of anticonvulsants, and consequently, the end of learning in school.
As Mike began to take anticonvulsants, they forced his brain to slow down, in order to control the nearly constant seizure activity. Additionally, Mike had stimulus sensitive myoclonic seizures. This meant that changes in light, movement and noise all caused seizures. THINKING caused seizures. The acts of reading or doing math increased the constant seizure activity in his brain. Additionally, the strong anticonvulsants slowed his brain processing speed down to a dramatic degree. School became a nightmare. His constant seizure activity prevented participation and learning. The kid who loved to learn could no longer focus and keep up in class.
Sleep provided no relief; because, as he became drowsy, the seizure activity increased. Sleep happened amid constant upper body jerks; it finally came after total exhaustion, following hours of seizures. This occurred from third grade on, yet miraculously, Mike, always the enthusiastic athlete, was able to control gross motor skills to participate in soccer, baseball, and basketball for many years. During his school years, Mike's medication was increased to include three anticonvulsants, and he had a Vagus Nerve Stimulator implanted, in hopes of controlling the ever present myoclonic jerks. Nevertheless, his heavy seizure activity persisted. Heavy doses of medicines could lessen it, but his seizures rarely completely disappeared.
For Mike, the real nightmare began after high school. Despite his challenges with focus and attention in high school, he was still determined to attempt college, and he was still working at a local grocery store, when he inexplicably began to fall. During every fall, he sustained bad injuries, because negative myoclonus would cause his legs to give out, the rest of his body would freeze, and he was unable to brace himself in any way. The falls were frequent, brutal, and unpredictable. This began shortly after he turned nineteen. He was forced to stop working and go on full-time disability. Two more anticonvulsants were added to his regimine to create a cocktail of five anticonvulsants at high doses, making it nearly impossible to think at all.
From age nineteen until now, Mike has sustained many painful falls. He has had far too many concussions, fractures, and lacerations to count. He has frequented ERs in many states. He has had to have a surgically repaired ankle, and he lives with constant pain from injuries, such as his two separated shoulders. Proper recovery from these injuries is often prevented by his inability to prevent future falls while an injury heals.
ULD can cause severe depression, suicidal ideation, and even psychosis. The powerful anticonvulsants that Mike was taking can also cause these symptoms. From age 19 on, he began to experience terrible mental and emotional side effects from the condition and the medications. In a cruel irony, any psychiatric medicine that could work against the depression symptoms had the effect of lowering his seizure threshold, making it more likely for him to have seizures, and therefore, could not help him.
As is often the case with this disease, ataxia progresses over time. From age 26 on, Mike has had to rely on a wheelchair to get safely from place to place. The ever-present myoclonic jerks make even the simplest activity difficult and often dangerous. Some side effects of medicine, as well as the course of the disease itself, have affected his ability to think clearly. Confusion and disorientation are often present, and every year is more difficult than the one before.
As his parents, we have seen the devastation first-hand. ULD progresses slowly, but it is very cruel. Only the family members who live with ULD patients can really grasp the suffering that it causes. We are committed to doing everything in our power to stop the progression of this disease. Please join us in our effort to end the suffering from ULD throughout the world.
This is Dolan at age 5. He was seemingly born to climb, jump, run and play. He started a tumbling class at age 3 and continued trying out every sport he could find along the way as he got older. Soccer, t-ball, baseball, basketball, lacrosse and, of course, football. Dolan LOVES football. He was permitted to play flag football for the first time when he was in 2nd grade and, he will very proudly tell you, he played for an undefeated team. It was at the tail end of this season that Dolan suffered his first ever tonic-clonic seizure. He was admitted to the hospital and his neurologist saw enough on his EEG to start him on a small dose of daily medication.
Nervous about this at first, we were lulled into thinking it was a passing phase as Dolan seemed completely unaffected. He played flag football for an indoor league that winter. Catching the game winning pass for the superbowl victory is a story he still retells.
We didn’t realize after that first seizure that Dolan had begun the slow and excruciating process of displaying the symptoms that would later be diagnosed as Unverricht-Lundborg Disease. Over the next few years, Dolan experienced increases in frequency and intensity with his seizures. He was most prone to them late at night or in the early morning when waking, causing him to be afraid to go to sleep some nights. He also endured numerous multi-night stays in the hospital each year as his doctors tried to determine the type of seizures Dolan was experiencing in order to find the best medication.
By 5th grade he was on a cocktail of medications that caused everything to “slow down” for him. His speech, his movements, his processing… at best it was as if he was working at a much slower speed… at worst, the medicines caused a constant tremor and, as a friend said, “it sounds like you’re talking like a robot.”
To his credit, Dolan rolled with the punches and did his best to continue playing sports. With football off the table, he settled on basketball and lacrosse. Though he no longer had the speed he once had, he still enjoyed doing his best and competing.
This all came to a halt when, in his 7th grade year, the tremors became much more pronounced and global. No longer affecting just his hands/arms, his legs were prone to shaking, causing him to fall. Thinking this was a side effect of medication, Dolan spent that year slowly stopping and starting new medications. He would have good days and then bad days. By the summer of that year, it was clear something more was going on.
He was admitted to CHOP (Children’s Hospital of Philadelphia) for testing to determine what was happening. After enduring a number of tests (including a lumbar puncture) over two weeks, a doctor finally recognized that it could be ULD. Though we would have to wait for the results of the genetic test to confirm the diagnosis, reading the available literature about the symptoms of this disease, we were pretty sure we had the right diagnosis.
Having a diagnosis, however, did not mean that there would be answers… or at least not any reassuring ones. This disease is progressive. It has been extremely painful to watch our strong athletic son become increasingly reliant upon the help of others to move, eat, bathe and even use the toilet. Dolan has not been able to attend school on a regular basis since middle school and now receives home instruction for high school.
We remain hopeful that continued research will lead to something more than simply trying to keep the symptoms at bay. We are grateful for the support from everyone we have met in this community. Though each individual with ULD has their own unique story, it is helpful to learn how others and their families have coped. Thank you for sharing our story!