Lafora Disease Funding for Angelina

"Raising some urgent funds that will go towards available treatments in the USA and quality of care for Angelina."  Niki Markou, mother and parent advocate for Chelsea's Hope Lafora Children Research Fund, July 2021

Social media updates @laforainitative

My name is Niki Markou from Sydney, NSW, Australia and I am a mother of a 17-year-old girl named Angelina Lati. My daughter has Lafora Disease. Lafora disease is a terminal neurological disease characterised by progressive myoclonus epilepsy, tonic-clonic seizures and childhood dementia.

“The diagnosis was a complete shock. Angelina was like most other teenagers. She had no signs or symptoms or any abnormalities. She was extremely social, self-motivated, goal-driven, academic and had big dreams for her future. She was in school musicals and attending acting classes and wanted to become a makeup artist and business owner. Her life has changed dramatically. She’s lost her friends, social life, school, independence. She wants to go back to school but she can’t.

There is currently NO cure for Lafora Disease and the average lifespan of individuals with Lafora Disease is roughly 2-10 years following onset of symptoms which are quick to progress. She was initially diagnosed with Juvenile Myoclonic Epilepsy which is a common misdiagnosis.

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 childhood dementia.

"Just shy of two years, her school work showed full pages of neat writing, underlining, answering of questions and problem-solving. Now she is lucky to write a few words or read simple sentences. She needs words to be broken down and said slowly so that she can understand. She also has difficulty initiating things. Basic, daily-life decisions, such as what shirt to wear, are a struggle for her."

In May 2020, doctors inserted a gastrostomy tube so that she could be fed and given medications safely. By June 2020, her behaviour started to change. This commonly occurs with changes in the frontal cortex of the brain as a result of progressive childhood dementia. For Angelina, this made her irritable, gave her mood swings and impacted her mental health. She started to refuse to eat, co-operate with self-care, get out of bed, or take her medications. Now in July 2021, she is 99% formula fed.

Every day is extremely challenging. The whole family is on high alert all day, every day. We must monitor her constantly.

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 so she always wears a hat and sunglasses outdoors. 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.

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 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. 

Angelina is currently on several medications for management of seizures and behavioural management, but these will eventually stop controlling her symptoms. 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 that we have installed cameras to monitor her constantly.

Lafora disease is a rare disease with no cure that affect 1 in every 4 million people with only 70 registered Lafora disease patients around the world at this stage. It is believed that there could be about 250 children around the world with this disease.

Angelina is currently the only registered Lafora disease patient in Australia. 

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 were planning to start clinical trials in 2021 (this year) which was promising but now have been delayed another 12-18 months.  This delay could cost Angelina her life as she is progressing fast. She is also unable to fly as inflammation causes increased seizures which could be fatal mid air.

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 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.

Funding for research is needed now more than ever to prepare the drugs and helps fasten the legal processes to get these treatments available as quick as possible as these families do not have the luxury of time.

Angelina lives at home with her family and 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.

The future is looking hopeful for Angelina if we get a drug therapy this year . Will Angelina receive the new treatment in time here in Australia? Will she have to fly to the USA to obtain the drug, which is impossible even if offered?  We need help to get the therapies here legally. These are all the challenges we are facing due to the recent devastating delays in clinical trials.

What I am asking for is donations to help Angelina get medical attention and continue to fund necessary research, please donate to this fundraiser.

Charities we support;

- Chelsea's Hope Lafora Children's Fund https://chelseashope.org/ https://chelseashope.org/just-like-a-butterfly-by-niki-markou/

- Childhood Dementia Initiative https://www.childhooddementia.org/ who are funding research for over 70 different rare disease that do not get a lot of funding on their own

- Bear Cottage - NSW Palliative Care Hospital http://www.bearcottage.chw.edu.au/ in Sydney, Australia which has cared for Angelina several times during the past years

"This journey has been extremely difficult and devastating and we do not want to loose our beautiful girl. I have written and recorded a song for her that is about how she bounces back from her seizures and what I wish for her my daughter" - Niki Markou

The song "Just Like A Butterfly' is available now on multiple digital music platforms like Spotify, Apple Music, TikTok, and many more. Funds earned will also go to medical funds and research.

TV episode showing Angelina with Childhood Dementia Initiative