My name is Niki Markou from Sydney, NSW, Australia, and I am a mother of a 16.5-year-old girl named Angelina Lati. My daughter has Lafora Disease. Lafora disease is a terminal neurological disease characterised by progressive myoclonus epilepsy and tonic-clonic seizures.
Prior to this 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 musicals and drama at school and was doing acting courses outside of school hours. She was an aspiring makeup artist with plans start beauty in her senior school subjects and tertiary education. Overall, she was a good student and achieving all her academic milestones with ease. 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 hospitalised and following was an initial misdiagnosis of Juvenile Myoclonic Epilepsy which is very common with LD patients but after 9 months Angelina was hospitalised again due to increased frequency, duration of seizures and suspected cognitive decline.
After almost 3 months in hospital doing multiple tests and trialling 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.
Individuals with Lafora Disease experience absence seizures, tonic clonic seizures and myoclonic seizures which generally become more frequent and difficult to treat over time. Absence seizures are quick blinking of the eyes with head jolts and sometimes can be so quick you may miss them. Myoclonic seizures involve shock-like jerks of whole groups of muscles due to unusual brain activity. Tonic clonic seizures typically involve loss of consciousness followed by muscle convulsions that may last up to a few minutes at a time. Other common symptoms associated with Lafora Disease include difficulty walking, muscle spasms (myoclonus) leading to difficulty controlling the muscles, behavioural changes, confusion, and progressive dementia. Lafora Disease is typically quick to progress, with most individuals experiencing significant difficulties completing daily activities a few years following onset of symptoms. The average lifespan of individuals with Lafora Disease is roughly ten years following onset of symptoms.
Angelina is also extremely photosensitive and action sensitive. Photosensitivity refers to increased sensitivity to bright and flashing light. 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 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 hospitalised due to increased frequency and duration of seizures. During her hospitalisation, 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 insertion of a Mirena IUD to control her hormone levels as these seem to trigger seizures also. Angelina’s medication dosage was increased to control the seizures and she was discharged from hospital and stayed in a respite facility during her recovery.
By June 2020, Angelina began to experience increased frequency of significant behavioural challenges, including irritability, non-compliance, and mood swings. These symptoms commonly occur with changes in the frontal cortex of the brain (associated with progressive dementia) and involve disinhibition. During these behavioural 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 that it takes Angelina longer to be able to process and understand instructions or follow conversation. In June 2018, just shy of 2 years Angelina’s schoolwork showed full pages of neat writing, underlining, answering questions and problem solving. Now Angelina is lucky to write a few words, read and struggles to make simple decisions such as what shirt to wear.
Angelina is currently on several medications for management of seizures and behavioural management, but these will eventually stop controlling her symptoms as they are already difficult to treat. She is currently having symptoms daily and it is only a matter of time before her health declines even 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 are on high alert all day everyday 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 40 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 are planning to start clinical trials in 2021 which is promising but access for Angelina to have this drug could be years away. University of Kentucky College of Medicine biochemist Matthew Gentry founded the Lafora Epilepsy Cure Initiative (LECI) and has been working on therapies for what seems to be over 10 years+ and is hopeful that he may have something available in 1-2 years but I believe by this time my daughter and other Lafora children will become bed ridden or worse deceased by the time the treatments are available.
Thanks to the Chelsea’s Hope Lafora Children Research Fund, the breakthroughs from research and treatments has been possible, with hopes to have these treatments in clinical trials for children like Angelina get the medical treatment they need to help slow down the disease and/or ultimately reverse a lot of the damage and maybe a cure in her lifetime. Chelsea’s Hope have been fundraising and creating awareness since 2007 and were the initiators to help find a cure. Angelina’s family is very thankful for what they have achieved in such a short period of time as initially it was thought to be decades away. The fund was created because of a girl named Chelsea Gerber from the USA who had Lafora disease. Chelsea sadly passed away from Lafora disease in 2016 at age 26, her family have not stopped fighting to help find a cure for this deadly rare disease and are the backbone to all the Lafora families. There are many other children just like Chelsea and Angelina and you can find their stories on the website https://chelseashope.org/. Any donations given to the Chelsea’s Hope Lafora Children Research Fund goes to funding pharmaceutical companies, symposiums, funds for medical staff, researchers, and families. This helps fasten the processes to get these treatments available as quick as possible as these families do not have the luxury of time.
Angelina currently lives at home with her mother Niki, stepfather David, sister Trevi, stepbrother Alec and step sister Angelysa. She also visits her father Hambi’s home fortnightly whilst she is still able to. She currently is being cared for by a nurse in the day and her mother and family at night and weekends but as the disease progresses Angelina will need up to 20-23 hours per day of care by a nurse.
Other links to articles relating to Lafora disease.
The coronavirus pandemic claims another victim: Medical research for deadly rare diseases; click here to read article
UK Researcher Leads International Epilepsy Cure Initiative; click here to read article
UMR: PROGRESS ON HOLD | Researcher Profiles; click here to read article
Ionis treatment for Alexander disease receives orphan drug designation from U.S. FDA; click here to read article (one of the 3 diseases that has been approved, Lafora disease is one of the next to have the same fate)