Sydney, Australia

This is Angelina Lati from Sydney, NSW, Australia. She has Lafora Disease.

Angelina lost her fight with Lafora disease May 29th, 2025 at the age of 21. This is her story.

Lafora disease is a terminal neurological disease characterized by progressive myoclonus epilepsy, tonic-clonic seizures, cognitive decline, childhood dementia, and ataxia, just to highlight a few.

Before Lafora symptoms, Angelina was a typically developing teen, attending school full-time with no signs or symptoms previously. She was very social with her family and friends, participated in school musicals and drama, and did acting courses outside of school hours. She was an aspiring makeup artist with plans to start beauty in her senior school subjects and tertiary education. Overall, she was a good student and easily achieved all her academic milestones. Angelina was very goal driven and had big dreams.

 

In September 2018, Angelina experienced the first onset of symptoms, a seizure, at 14.5 years of age. Angelina was hospitalized and misdiagnosed with Juvenile Myoclonic Epilepsy (very common with Lafora Disease patients). After 9 months, Angelina was hospitalized again due to increased frequency, duration of seizures, and suspected cognitive decline.

After almost 3 months in hospital doing multiple tests and trialing alternate medications, in September 2019, exactly a year later, genetic tests showed she had a mutated gene named EMP2A. This mutated gene is the cause of a disease named Lafora disease.

Angelina is extremely photosensitive and action sensitive. Photosensitivity refers to increased sensitivity to bright and flashing lights. Angelina has experienced seizures triggered by being present in very bright environments. Angelina’s action sensitivity is also known to trigger seizures, whereby Angelina experiences an increased frequency of seizures the more she physically exerts herself. It is important for Angelina to have periods of rest and inactivity to prevent seizures, so she is mainly contained in the home or a controlled environment for her safety.

In late May 2020, Angelina was hospitalized due to the increased frequency and duration of seizures. During her hospitalization, Angelina experienced a significant decline in functional mobility. Angelina was having difficulty walking independently, speaking, and swallowing medications. Angelina underwent a surgical procedure to insert a gastrostomy tube to allow for PEG feeding and administration of medications as required, as well as the insertion of a Mirena IUD to control her hormone levels since those also seemed to trigger seizures. Angelina’s medication dosage was increased to control the seizures, and she was discharged from the hospital and stayed in a respite facility during her recovery.

By June 2020, Angelina began to experience an increased frequency of significant behavioral challenges, including irritability, non-compliance, and mood swings. These symptoms commonly occur with changes in the brain’s frontal cortex (associated with progressive dementia) and involve disinhibition. During these behavioral periods, Angelina refuses to eat anything, assist with self-care activities, get out of bed, or take her medications. Angelina has experienced a significant loss of short-term and long-term memory, and her processing speed has slowed significantly so it takes Angelina longer to be able to process and understand instructions or follow conversations. 

In June 2018, Angelina’s schoolwork showed full pages of neat writing, underlining, answering questions and problem-solving. Less than two years later, Angelina was lucky to write a few words, read, and struggled to make simple decisions such as what shirt to wear.

August 2020: At Bear Cottage, NSW Palliative Care Hospital for Children. Angelina is currently on several medications for the management of seizures and behavioral management, but these will eventually stop controlling her symptoms as they are already difficult to treat. She is currently having symptoms daily; it is only a matter of time before her health declines further and she becomes bedridden. Angelina is at high risk of Sudden Unexpected Death in Epilepsy (SUDEP) so every day is like a ticking time bomb. Her family is on high alert all day every day and have installed cameras to monitor her constantly.

Lafora disease is a rare disease that affect less than five in 10,000 people with only 80 registered Lafora disease patients around the world at this stage. It is believed that there are about 250 children around the world with this disease. Angelina is currently the only registered Lafora disease patient in Australia. There may be more children, but they could be misdiagnosed or asymptomatic at this stage. 

There is currently NO cure for Lafora Disease.

Researchers have recently discovered that it​ is caused by a mutation in one of two genes that control the way cells store glycogen, a form of sugar, resulting in a toxic buildup of Lafora bodies in the brain.

Pharmaceutical companies in the USA have been working on treatments and therapies and planned to start clinical trials in 2021, but they did not happen, and families like Angelina’s are still waiting. 

Access for Angelina to this drug could be years away, though researchers like Dr. Matthew Gentry, University of Florida College of Medicine, who founded the Lafora Epilepsy Cure Initiative (LECI), are doing great work.

Angelina lives at home with her family, who cares for her. She also has a nurse during the day. As the disease progresses, Angelina will need 24/7 care.

In early 2022, Angelina had slowed down a lot but was still able to walk and talk slowly. Her dementia was more progressive, her seizures were more frequent, and she’d be in her wheelchair most of the day. Angelina was fed 98% by her feeding tube. She started a biweekly experimental treatment that you can read more about below.

Angelina has been receiving biweekly Enzyme replacement therapy infusions of an experimental medication since 2022. This is possible through compassionate use that was approved in Australia, for which her family is grateful. It will take some time, potentially two years, to know the impact of this therapy and if her symptoms will slow down.

Now, September 2023, Ange regularly stays for respite and critical care at the new Many Adolescent and Young Adult Hospice – Australia’s first dedicated service for young people with life-limiting illness.

To see how Angelina Lati is doing, please visit @LaforaInitiative on social media: Facebook;  Instagram; and TikTok.

Watch Niki’s latest update, filmed with the Childhood Dementia Initiative, here.

Media & Awareness

Niki is also advocating for Angelina in Australia through the Childhood Dementia Initiative.

July 3, 1985

Grant was what we were waiting for, a son. I lost my first baby which was a boy, so he was even more special to us. He was a child that loved to go outside, from the time he was born. As he grew nothing much changed. Every Saturday we always took our family in the boat. Grant’s favorite thing to do was to go diving. He loved fishing too, but diving was his favorite. Grant found a job doing what he loved, diving and catching fish.  He went fishing for a few years but started to go down health wise, and he wasn’t able to keep that job. He started having jerks and dropping things in the morning when he was 17 years old. He lost a few more jobs because he was getting slower and slower in his movements.  A few days before he turned 18, he started vomiting continuously. We took him to the doctor here in the Bahamas who sent us to Florida where he was misdiagnosed with Juvenile Myoclonic Epilepsy, which was understandable be cause symptoms present the same as Lafora.

Grant was started on Depakote and for the first few months was alright; then he worsened. The doctor increased the Depakote dosage which worked for an additional few months until he worsened again. New medications were added and when Grant took a turn for the worse he would take him off of one and add another. Trying to find the right medication combination is a big challenge.
Grant started dating Georgette, who is a beautiful woman inside and out, in 2005 right before his Grandmother died. They married on July 29th, 2006. Georgette has stuck by him through all of the good and bad times. There have been a lot of bad times.

When Grant and Georgette had been married about 3 years he became worse and worse, until we took him to Florida again where he was diagnosed with Lafora Disease. Grant is now 30 years old and we have been dealing with this horrible disease for 12 years. His cognition has slowed down a lot and he does not understand that he cannot do what he used to do. He thinks he can still drive and dive. We have hard times explaining that to him.
My oldest daughter, Claire, started showing the same kind of symptoms and has been diagnosed with having the Lafora gene on one chromosome. Her cognition is slow like Grant’s and she is on three of the same medications. The good thing with her is that she doesn’t fall as much as Grant.

 It seems most of kids that have Lafora disease don’t live to 25 years of age. We are thankful that Grant has made it to 30 years old. We feel privileged, to have had him for so long. We are very thankful.

We understand that the doctors are close to a therapy for Lafora Disease so PLEASE DONATE TO CHELSEA’S HOPE SO A THERAPY FOR THIS DISEASE CAN BECOME AVAILABLE SOON.

Love,

Gareth and Clarabelle (Grant’s parents)