February 10, 2000 – December 24, 2023 / France

 Thank you to Véronique Gadomski for sharing her son’s story:

He grew up with no health problems

Robin was the eldest of 4 siblings.

Like many other Lafora children, Robin grew up with no health problems. Learning, whatever it was, was no problem. He was carefree, intelligent, a go-getter, sensitive, strong-willed, loving, subtle and funny. He loved his family, sports, friends, video games, vacations, fishing, the sea, and eating – basically, living life!

Epilepsy misdiagnosis

Robin had his first seizure at the age of 12, the day after a birthday party with friends. We found him convulsing on our trampoline, an image we’ll never forget. His eyes rolled back, excessive salivation, contractions of upper and lower limbs, no reaction… we thought we’d lost him. The fire department intervened and quickly realized it was an epileptic seizure. That was the start of the countdown.

He was put on Depakene for two years to treat idiopathic epilepsy. The neurologist told us at the time that it was highly likely that it was only temporary, as the EEG trace was not worrying.

During these two years, Robin developed like a “normal” teenager. He never had another seizure, so the neurologist stopped his treatment, which we were very happy about.

Unfortunately, eight days later, while playing basketball outdoors, Robin had another seizure. He was hospitalized again, and the neurologist asked him to resume his Depakene treatment, as the EEG tracing was not favorable.

It was a hard blow for all of us. Robin accepted the situation less well. He was 14.5 years old and didn’t understand why epilepsy had invited itself into his daily life. He didn’t want to be different; he didn’t want to be marginalized, he didn’t want to see the future in terms of this “invisible” illness that would complicate his life.

Life resumed its course, with the difficulties associated with epilepsy, the treatments, and the disorders that insidiously set in. They are imperceptible at first, until they become more visible. At 17, Robin was seen by an adult neurologist. He took over his case and listened attentively. Robin told him about his tremors, which were, in fact, myoclonus.

His diagnosis was changed to juvenile myoclonic epilepsy.

The seizures soon intensified, and the cognitive and psychomotor problems became clearer. Despite the difficulties, Robin refused to accept the help he needed with his schooling and his illness. He was increasingly difficult to manage and reason with. He was short-tempered, aggressive with those around him, and often acted without a filter. At that time, Robin chose to go and live with his father for a few months.

The trusting relationship with our neurologist enabled us to make progress with his diagnosis, and he suggested we carry out a genetic test to rule out any possible progressive myoclonic epilepsy.

Over the next few months, Robin’s condition only worsened. He had more and more seizures, his walking was unsteady, he was absent, and it became difficult to have reasoned exchanges with him. His condition was extremely worrying.

Robin got his Lafora Disease diagnosis

The results of the genetic test arrived 9 months later and told us that Robin was a carrier of Lafora Disease, a death sentence. At the age of 19, he forgot his first name, could no longer put a piece of clothing on a hanger, dress himself, or put on a seatbelt, and he suffered from seeing himself diminish in this way. He had to be taken out of school and placed under guardianship. A 24-hour supervision was necessary.

Less than a month later, when he was alone with his little brother at his father’s house, he didn’t know how to react when a fire broke out and ended up with 3rd-degree burns to both feet… Robin was then hospitalized for a month for a skin graft and suffered his first “state of prolonged epileptic seizure.” As a result, he prematurely became a wheelchair user.

Robin returned to live with us. This requires organizing with third parties, nursing staff, and structures to help us deal with the situation in the best possible way. Robin struggled to learn to walk again, despite myoclonus from Lafora and pain from his burns. He also had to cope with his father’s abandonment over the months.

But Robin is a warrior, he shows great mental strength and continues on his way.

After the COVID-19 epidemic, Robin suffered a fever worse than any previous episode and had to be hospitalized. His condition was worrying. He hardly woke up at all and had up to 30 seizures a day. We prepared for the worst. But Robin continued to fight and recovered after a few weeks of treatment. He relearned to eat and speak, and gradually regained his memories. And just two months later, he was back living at home, but not walking again.

 2023

Robin is now 23 years old and has already won many battles. He has been hospitalized at home, bedridden, and under 24-hour surveillance for three years. He has difficulty with light and heat. Robin has speech, comprehension, and swallowing difficulties, but he eats by himself with our help. His cognitive and psychomotor problems are progressing as the disease progresses.

When Robin can speak, his only question to the neurologist is whether there is a drug that will cure him…

This hope of finally seeing a treatment that will make us forget the horror of Lafora grips us all, patients, parents, families, loved ones, and researchers…

Learn more

(September 23, 2003 – October 27, 2022)

Kain Brody Unzicker was born on September 23, 2003, to Dennis Unzicker and Christina Hernandez at Desert Regional Medical Center in Palm Desert, California.

Kain grew up perfectly healthy until he was 10 years old, that’s when he had his first seizure. He was misdiagnosed with Juvenile Myoclonic Epilepsy (JME) after being assessed by a doctor. He started having grand mal seizures about once a month at first, but the medications they prescribed didn’t seem to help and they got more severe and closer together.

He had his first seizure over 10 minutes in the 8th grade at school, and another less than a month later. We kept trying higher doses of medicines and changed them many times, until we found the combination he is on now, that seems to make them less violent and shorter in duration.

In 10th grade, the seizures were happening more frequently, and his neurologist at St Luke’s Children’s Hospital suggested a VNS implant, genetic testing and a second opinion from Seattle Children’s Hospital.

We received the diagnosis when the results came back, and they found the EMP2A mutation. They decided to perform a biopsy to confirm the presence of Lafora bodies, which came back positive. This was extremely devastating to hear that it wasn’t JME but in fact a death sentence with Lafora disease.

A terminal neurological degenerative disease that has no cure. They also advised that he may only live up to his mid-twenties before passing away from uncontrolled seizures or pneumonia.

Kain’s cognitive decline started to effect school in the 9th grade, but until his proper diagnosis, it was thought his troubles were related to medication side effects and mild brain damage from the longer seizures he had had. By 11th grade, the seizures became more frequent, and it was no longer safe for him to ride the school bus because laws prohibited him from carrying rescue medication on the bus, and the drivers were not qualified to administer them, his Doctors also deemed continued education unnecessary.

Kain was very adamant and determined to finish school, so we agreed to transport him ourselves, and his teacher learned how to administer his medication.

Against all odds, Kain graduated at 17, before his decline became more severe. Kain is very proud he accomplished graduating at Idaho City High School, class of 2021 and receiving his diploma. He achieved graduating during a pandemic and while the progression of Lafora disease continued. He never let anything stop him.

Dennis and Kain’s whole family were very proud and happy to see him graduate. Father Dennis shared, “He did it under so much pressure and under circumstances most kids would never have to worry about.

Unfortunately, Kain is now wheelchair bound and suffering from ataxia, the lack of muscle control or coordination and dysphagia which is where he can no longer swallow normally. Kain was given a permanent Gastro tube port for medication, food, and hydration.

He rarely talks anymore and when he does, he struggles tremendously. The myoclonus is affecting every muscle in his body, he can’t dress himself or bath and needs help going to the bathroom.

Father, Dennis stays home full time to care for him. “It’s the hardest thing I have ever done, but he is worth every second of struggle, and every tear. He can’t do much of anything these days. I watch movies with him a lot and listen to music. I take him everywhere I can to enjoy outdoors, but busy places are difficult for him.” 

Kain is now 18 and is still waiting for a cure!

Please help by creating awareness and donating to Chelsea’s Hope Lafora Children Research Fund where the mission is to fund research into treatments to find a cure.

Kain is next to a 1967 Corvair.  His family has a passion for restoring cars.

Kain’s love of cars was passed down from his dad and uncles.  Dennis (Kain’s father) shares, “It started when he was old enough to say “car”, he would love to play with them, see them, and ride in them.”

Kain was granted a Make-A-Wish and choose to spruce up his Corvair with a paint job and complete the interior. He chose Cobalt Blue for the paint and loves the color.  The interior is blue and white.

For the Make-A-Wish reveal, shirts were created with “Team Kain” for this spectacular event.

Dennis and Kain did a lot of the mechanical work during quarantine.  They fixed the wiring, lights, tuned up the motor, making sure it would run properly.

Kain was driven to graduation in Covair, he said  “That was really fun”.