Mia Vivian Clement
Maine, USA
Mia Clement was a healthy student-athlete before her first seizure at age 12. After her second seizure, her family took her to a neurologist, driving four hours to access her care. Then, after multiple tests and lots of waiting, Mia was diagnosed with epilepsy and given Keppra to manage it. She was told there was a 50/50 chance that she would grow out of her seizures after she became an adult.
However, Mia’s seizures became closer and more violent. The doctor upped her Keppra but Mia started having memory and mobility difficulties, falling on the basketball court and forgetting where her classes were in school. Her family got a second doctor closer to their home in December 2019. Finally, after a genetic test and sleep study, Mia was diagnosed with Lafora disease.
“We got the results in March of 2020, right when Covid-19 hit, that she was terminal,” says her mother, Felicia Moore.
It was a shock to us all. How can this be? How long does she have?
Now, three years later, Mia’s Lafora symptoms have progressed rapidly. Sometimes she has energy and is in good spirits; some days, there is nothing but flickers and dementia. She has days where she seizes hard and stops breathing. Mia has hit her head so many times and suffered two broken noses, staples in her head from cuts, and countless scrapes and bruises.
This disease has taken away everything from her.
Mia struggles to feed or care for herself because of Lafora symptoms. Her well-being has changed drastically. Felicia cares for her full-time, with help from her sisters, while her father works a full-time job. Mia will be turning 20 in June 2023. She is a warrior!
Thank you to Felicia Moore for sharing Mia’s story and her experiences caring for her.
LAFORA. For 99.9% of the population, the word means nothing. It could be an exotic locale, foreign name, or strange plant species. I never, in my worst nightmares, could imagine the pain, suffering and heartbreak that would come in knowing what Lafora is. Our world has now become engulfed in the reality that is Lafora Disease. Jessica, our beautiful, intelligent, athletic and loving 15 year-old daughter, was diagnosed with Lafora Disease on February 3, 2009.
Jess’s story is not unlike any of the others you will read about on this site. Until fall of 2008 she was an honor roll student, cheerleader, best friend and star volleyball player in addition to being a loving daughter, big sister, granddaughter and cousin. She had an infectious laugh, a sparkle in her eye and a zest for life. She often talked about turning 16 and driving…her plans to go to college and become a teacher just like her Dad…of the babies she wanted to have and raise….of her fairytale wedding. Those dreams have all been put on hold because of the curse of Lafora Disease.
The Depakote worked for about a month until the jerks came back with a vengeance. The doctor added another drug, and it got worse. At this point, we noticed Jess beginning to have problems in school. Homework, which used to take a half an hour, now took 2 hours. She began to seem spacey and out of sorts. We chalked it up to the side-effects of the medications, but made an appointment with a pediatric neurologist/epileptologist at Children’s Hospital in Pittsburgh for a second opinion. We went to her in May, and she confirmed the JME diagnosis. She added another med, and things were OK until late summer. When the uncontrollable jerking started again, we contacted the doctor who scheduled her for another EEG. The day of the EEG, Jess couldn’t walk, had to be given a bath, and couldn’t feed herself. When she was finally hooked up, the EEG was so abnormal they had to give her IV Ativan to break the pattern. After a few days, it calmed down. The doctor started her on another med and things were OK and we went home with the idea that Jess had a refractory case of JME that was resistant to meds.
Jess started her freshman year and into the fall, the mental fogginess, cognitive slowing and seizure activity increased to the point we had to take her out of her honors classes and start an IEP (special education). An evaluation by a neuropsychologist showed extreme slowness and an IQ of 55…this from a straight A, advanced classes student. My Mom (who is also a registered nurse) and I began to suspect we were dealing with something much more terrible and urged our neurologist to perform further tests. She did, and though we didn’t know exactly what she had ordered, the blood work was done in early December 2008.
On January 22, 2009, we had an appointment with our neurologist, at which time she shared the results of the tests done in December. All were OK except one, which showed she had one mutation known to cause Lafora Disease, and 2 mutations on the same gene of “unknown significance.” We were lucky enough to have a neurologist who was familiar with Lafora, but she also knew it was a recessive disease that required 2 mutations; Jess only had the one known. In consulting with other neurologists across the country, she couldn’t draw a definitive conclusion as to whether Jess had Lafora because nobody knew what the other mutations meant. We left the office thinking she had a mild case of Lafora. After doing the research on Lafora, we were relieved that nobody thought she had a full blown case as we couldn’t even begin to imagine that our daughter had a progressive and fatal disease as sinister as Lafora. In retrospect, that 12 days of ignorance was bliss.
I, however, was not content to rest on those laurels and there was always something nagging in me to not leave this alone. My daughter simply was not the same person I had always known and loved. So, I began to dig deeper. In my research, I found this website and found contact information for Dr. Berge Minassian, who is also one of the foremost authorities on Lafora Disease. I sent him Jess’s test results, not really knowing what to expect, and the reply I got confirmed our worst fears. Her second mutation, though not seen before, is disease causing. Our daughter was diagnosed with Lafora Disease on February 3, 2009.
Lafora is an ugly monster of a disease that steals the life of active healthy children and turns everyone’s world upside down. Jess, who rarely had anything more than a cold, must now take 22 pills a day to control seizures. She hasn’t been to school since February, and her once wide open world has narrowed to a small tunnel. We must, however, look for the light at the end of that tunnel…a light that depends on getting the word out and finding a cure for this crazy senseless disease….a light that depends on YOU. The researchers are headed in the right direction. We all need to band together to make sure they get there so nobody else has to endure the hell that is Lafora.
Jess is still in the early stages of the disease, and still has a chance to benefit from treatment. We beg you to join us in this journey of hope…Chelsea’s hope…and Jessica’s hope.
Purple Day for Jess
Jess’s Army Joins Chelsea’s Hope
The Daily American
Chelsea’s Hope, Post Office Box 348626, Sacramento, CA 95834