'Climbing For Angelina' - Lafora Disease Awareness

We will be ‘Climbing For Angelina’ to raise awareness of Lafora Disease and Childhood Dementia.

We (Jake, Maria, Leon and Gia) will be climbing Mount Snowdon in August 2021 (the highest mountain in England and Wales) in the hope of raising some vital funds that will go towards treatments and quality of care for Angelina.

Our cousin, Niki Markou, has a beautiful daughter, Angelina, who was sadly diagnosed with Lafora Disease when she was only 14 years old.

In September 2018, Angelina experienced the first symptoms (a seizure) of the onset of Lafora Disease. She was hospitalised following an initial misdiagnosis of Juvenile Myoclonic Epilepsy, which is very common with Lafora Disease patients. After 9 months Angelina was hospitalised again due to increased frequency and duration of seizures, and suspected cognitive decline.

After almost 3 months in hospital, undergoing multiple tests and trialling alternate medications, in September 2019, exactly a year later, genetic tests showed Angelina had a mutated gene named EMP2A, which is the cause of Lafora Disease.

Lafora Disease is a terminal neurological disease characterised by progressive myoclonus epilepsy, tonic-clonic seizures and childhood dementia. Currently, there are only 70 registered patients globally, with possibly many more who have been misdiagnosed. Angelina is the only known case in Australia.

In a short time, Angelina has gone from being a high achieving student who was energetic, bubbly and loved drama class, to being completely dependent on her family. Angelina now needs around-the-clock care to help with everything from feeding, to bathing and dressing, and must be monitored constantly.

It has been hard for Angelina to adjust to the huge changes Lafora disease continues to bring. She loved to go to school and hang out with her friends, but today she can no longer do this. Simple tasks like reading, writing or holding a pen are no longer possible…..even leaving the house takes enormous effort and care. Easy decisions, like what to wear, have been suddenly replaced with major struggles like trying to avoid the unpredictable bright lights in public spaces that can cause seizures.

Angelina is also extremely photosensitive to bright and flashing light, and action sensitive, where she experiences increased frequency of seizures the more she physically exerts herself. It is important for her to have periods of rest and inactivity to prevent seizures, so she is mainly restricted to staying at home or in a controlled environment for her safety.

Angelina is currently on several medications for management of seizures 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 for her family.

Niki and the whole family have been strong beyond belief and tackle every day with love, positivity and determination. Niki is a strong, inspiring and devoted mother, never giving up her fight for Angelina, and despite everything the family is going through on a daily basis, she has also dedicated time to raising awareness of Lafora Disease and Childhood Dementia through TV, radio and magazine interviews & broadcasts in Australia. She has also written and recorded a song for Angelina called ‘Just Like A Butterfly’ where she wishes for her daughter to bounce back from this illness and overcome the challenges and difficulties they are living through every day. It is available on multiple digital music platforms like Spotify, Apple music and TikTok.

Please help us raise awareness of a rare terminal illness that not many people know about and also raise vital funds to help with treatments and care for Angelina.

We appreciate each and every donation, however big or small, and are eternally grateful for your support.

Thank you from the bottom of our hearts.

#Climbing for Angelina

Maria, Jake, Leon & Gia