Angelina

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)

Angelina August 2020

Aug 2020 At Bear Cottage, NSW Palliative Care Hospital for Children

Angelina February 2020 all dressed up to meet Dua Lipa, Make A Wish Foundation Australia

2017 Angelina singing on her 13th Birthday

November 2015 Angelina at her Year 6 Formal

2009 AT 5 years old she was winning dancing competitions

Thomas

Thomas was diagnosed with Lafora in June 2018.

In April 2019, Make-A-Wish sent Thomas and his family to Hawaii.

Thomas Story

 

 

 

 

 

 

 

 

 

 

 

Shamoan Ahmed

Shamoan Ahmed attends Chilwell School; he has a lot of blank spells lasting seconds. He has had a number of over night epileptic seizure maybe caused by tiredness. However, at the moment he is not on any anti epileptic medication he chooses not to go on it. Shamoan will be 14 years old in May 2009. Every morning I check my son is okay I thank my lucky stars and continue with my day with the hope he will continue to keep going as long as possible. Shamoan is on a low carbohydrate diet.

Shamoan loves football and playing on play station games, guitar hero world tour being his favorite at the moment. Shamoan’s friends are always around the house. As much as I am not keen on having youngsters around my home all the time, I think the day my son is not her I wont see any of them. I take every day as it comes and do my very best for him every day. I can accept for my children to be poor or homeless or even go without necessities in life it is so difficult for my children to know that they have the same medical condition as their sister. Worse still they saw her suffer and die. No child should have to see suffering and no child should have a ticking time bomb hanging over them. I only hope and pray that treatment and a cure is available one day for Lafora. My children have a death sentence for something they have not done. If research does not take place and treatment does not become available I will lose my other two valuable assets that I am trying to hold on to so desperately.

– Submitted by Shamoan’s mother, Shekeela Ahmed

Milana Gajic

Bosnia

To be and stay a friend, even when it is most difficult, is certainly, successfully passed, big exam in life.

Milana is our younger girl, now 16 years old. She has, unfortunately, also become ill with Lafora disease, with side symptoms appearing even before her older sister. Diagnosis was set only when Tatjana, in full health, promptly and brutally showed symptoms followed by a rapid progression. The two of them, along with a few more families around the world, have “poked” the statistic possibility of recessive inheritance.

Her first crisis of conscience she had at the schoolyard (according to other students description, probably a clonic seizure) when she was 12. We made some tests – MR and CT of the brain, the EEG showed some changes regarding which the neurologist recommended not to take any therapy unless another seizure should appear. For almost two years nothing negative happened and we were convinced maybe it was only a temporarily puberty crisis. Unfortunately, another seizure appeared, so we reached for additional consultations at one of the largest pediatric institution in Belgrade. It was then Lamictal was introduced as a therapy. Dramatic events followed – one day, during the eighth grade, Milana came back from school, throwing her bag and throwing herself on bed heavily crying. Asked what happened, she answersed: “Mum, I forgot how to write.” Her characteristic as a child was her great persistence in everything she was doing. These days at home she wrote a lot and visited school normally, telling us how her hand would occasionally shake while writing. A drama followed during dancing lessons she liked so much – a few weeks in line, just before the end of every dancing lesson in the evening she had clonic seizures. We tried to convince her to leave dancing lessons, but she was determined: “That’s out of the question, I will not let these clonic disturb my life. ” She persisted, went all the way, past her exam and WON THE CRUEL LAFORA DISEASE FOR THE FIRST TIME and we didn’t know it at that time. We would like to use the opportunity to express our gratitude to her teacher Dijana from the dancing school “Bolero”, a young girl who has supported Milana to persist. Deterioration of her condition kept worrying us, so we reached for another consultation, this time with Primarius Sabol from Zagreb. He helped us a lot, excluding Lamictal, which only made the clonic worse, just as he suspected.

There is a saying doctors should respect: “God, help me to know where my limits are.” Exactly that way our colleague Aleksandra Serdar, a neuropediatrician, acted suggesting us to meet for consultation Professor Jovic from the Neurology Institute for children and youth in Belgrade. It was the end of the school year 2007 when our older daughter Tatjana had her first symptoms. Professor Jovic and his associates set up the diagnosis: MORBUS LAFORA. We were devastated by this news, but didn’t have the right to despair asking ourselves – HOW, WHY… We only could gain what’s left of our strength and start dealing with the cruel disease our girls were suffering of.

Meantime, she successfully finished another school for talents UMS and had a performance at the National Theater of Republic of Srpska; her first UMS mini book was created. Previous years she used to train tennis, liked to ski and enjoyed racing on ski trails against her sister and friends. She also, with success, used to visit school of English language at the Cambridge center and was a member of many school sections at her primary school. She always used to be a creative child so she, her best friend Dado and others, recorded “serials” and made performances at the schoolyard during summer holidays. She liked to read and write diaries a lot, just like her older sister.

Her class master once, at the very beginning of the school year, commented how she could already evaluate her with mark 5 (highest mark) for the end of the school year. Her math teacher has perhaps first noticed there’s something going on with Milana. He noticed her having strange oscillations, sometimes being first in solving hardest math problems and sometimes ”blocking” when dealing with the simplest ones. In all this she was definitely stopped in the second half of the ninth grade. In all that followed (slowness of thinking, more difficult monitoring of teaching, more difficulties with writing…) she was immensely supported primarily by her class master Branislava Tabakovic, her friends and the director and the entire collective of her primary school “Aleksa Santic”. A big THANKS to everyone having understanding for something, which none of us by that time fully understood. Milana, unfortunately, could not attend secondary school and we are still telling her the school is getting renovated… What she is now left with is reading books to her older sister and she is doing it with great love, although slowly, but with enormous persistence, for hours. Now she is having more difficulties to walk, even with assistance, she needs help to dress and feed, but most of all she needs attention, a lot of love and companionship. A mother of a child who is suffering from Lafora disease commented: “ALL THEIR FUNCTIONS FAIL SLOWLY, BUT THEIR NEEDS FOR ATTENTION AND LOVE INCREASE EXPONENTIALLY.”

Now she has large fluctuations in her behavior. You never know when it’s more difficult, is it when she’s intellectual worse, satisfied with little things, smiling, or is it when she’s quite well, but at the same time fully aware of the situation she found herself in, but does not reconcile with it. Recently she commented weeping: “Mom, I can not stand this any more” … But … she has always had the unconditional passion for school and all that allows you to learn more … dreamed to become a model … she has always been, without much effort, an excellent student and now she has slowly but surely handled lessons on how to fight with what has come upon her. In the end, isn’t one of the definitions of intelligence – ability to orientate in unfamiliar circumstances? WE ARE CONVINCED THAT LAFORA, AS MUCH AS BLASTING IT MAY BE, IS UNABLE TO BREAK DOWN ALL OF THIS CHILD’S POTENTIALS AND WE BELIEVE THAT MILANA, WITH HELP OF ALL OF US, IS GOING TO BEAT LAFORA …

– Provided by Milana Gajic’s Family

“We are the Gajic family from Banja Luka in Bosnia and Hercegovina. Our two girls, Tatjana and Milana are suffering from the Lafora disease.”

Read more about the family on their website: Let Us Beat Lafora