Living with rare disease and epilepsy: Paolo’s story

Purple Day (March 26) is dedicated to increasing awareness about epilepsy worldwide.

To support this year’s day, we’re sharing Paolo’s story, as told by his mother, Loretta. Paolo has mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS) syndrome – a rare disorder mostly affecting the nervous system and muscles, and sometimes causing epilepsy.

Here, Loretta talks about the challenges of MELAS syndrome, the impact of epilepsy, and the importance of further research into both conditions.

When was Paolo first diagnosed with MELAS syndrome?
My son Paolo was diagnosed with a very rare form of mitochondrial disease known as MELAS in 2014 at the age of 30. Mitochondrial disorders affect about 1 in 4000 people and most adult cases are due to defects in mitochondrial DNA. The image that comes to mind is a candle burning down slowly – eventually, the flame will simply go out.

Paolo has epilepsy as a result of the disease. He is treated for seizures which have a direct correlation to the triggering of stroke-like events. In addition to epilepsy, he is deaf, diabetic and suffers cognitive impairment (dementia). The disease is progressive and fatal. There is no cure as of yet.

Life-changing diagnosis

When did Paolo’s seizures first begin?
In March 2013, Paolo began to have a spontaneous twitch in his right hand, which we later learned was a myoclonic jerk due to seizure activity. I sought out a medical appointment and left Paolo home for an hour while I ran an errand. When I returned, he was covered in vomit and disorientated. His hand was still jerking and he said that he “thought he had a seizure”. We rushed him to A&E where he was eventually advised the episode was probably due to diabetic neuropathy and he was sent home. The next night, our beautiful dog Sam leapt off the bed, running into Paolo’s bedroom and then back to me. There we found him having a whole-body seizure with loss of consciousness. We were swept back into A&E where Paolo was intubated, anesthetised and given numerous tests. The scan showed changes within the brain. The doctors said he was “very poorly” but not much else was known.

Six months to the day after his first episode, Paolo was visiting his father in Italy and began to feel his hearing worsen and oral communication became difficult. He was bilingual and struggled especially with his Italian. He returned to the UK and spent another 3 weeks in hospital, leaving this time with a diagnosis of autoimmune encephalitis. However, the registrar neurologist remembered Paolo and was not totally convinced. He delved more deeply into his history and requested genetic testing that would be sent to the specialist unit at Newcastle Hospitals’ RVI. In June of 2014, Paolo was formally diagnosed with MELAS and our journey with this terrible disease began.

Paolo’s recent scans show ongoing, silent seizure activity which is managed with the drugs Clobazam and Brivaracetam. Keeping seizures at bay is key to preventing stroke-like events. I do my best to help him live his best life, however we have both found that illness is a unique and lonely journey.

Living with MELAS

Loretta and Paolo

How has epilepsy interrupted Paolo’s and your life?
Paolo’s whole life has changed! Paolo had many friends and girlfriends. He travelled the world, lived in different countries, studied at some great universities and lived life to the fullest. Initially, the seizure activity was milder so he was able to still do some of the things he loved. However, as MELAS progresses, the seizure activity has increased and his cognition has declined. He is no longer independent and requires assistance for most things. I am with Paolo for most of the day helping him with medication, meals etc. I am also his only friend and I feel like his lifeline, which is exhausting. I do my best to listen to him read or talk about current events. He likes to speak about things he learned at university.

My whole life has changed as well. I was a teacher for many years and was employed in a leadership role in a lovely school in Manhattan. The classroom brought me so much joy. Leaving my career broke my heart, but my own child needed me. When I came back to England, I volunteered two days a week in a primary school where many of the children came from disadvantaged homes. Unfortunately, that was to be short-lived, due to Covid primarily, but also because Paolo’s behaviour was worsening and I was needed at home. My life, once filled with excitement, joy and collegial banter, is now filled with sadness and loneliness. I’ve had to find ways to maintain my well-being and I work hard at trying to keep my mind, body and spirit balanced.

What would you say to anyone newly diagnosed, or their family, as a result of your experience with MELAS syndrome?
I have always been an optimistic, upbeat, positive person who always sees the glass as half full. I will admit however that the journey with MELAS has been one of the greatest challenges of my life. We feel blessed to have been sent to Newcastle. Professor Gráinne Gorman and her team of specialists are kind, compassionate, caring and always available, in addition to being extremely knowledgeable and professional. Having a medical team that you can trust is vital when dealing with any illness, but with rare diseases it is paramount. As with all progressive diseases, I believe it is important to live life to the fullest for as long as possible. Cherish all the moments spent together and express gratitude for each day of good health. Where possible create a support team of family, friends and professionals to help you – the caregiver.

Hope for the future

Do you have a message for researchers working in the epilepsy field?
Never give up trying to find a cure! Your work is crucial and so valuable to the lives of so many people. Your hard work is greatly appreciated.

What are your hopes for the future regarding epilepsy research or general awareness and understanding of the condition?
Illnesses affecting the brain, whether that is epilepsy or MELAS, are incredibly complex. I have found with MELAS, which is so rare, that many in the medical profession know little or nothing about it. As a result, making a diagnosis takes longer, enabling the disease to progress and worsen. The more knowledge, the better the outcome. Sometimes, like in the case of my son, a lack of awareness on the part of a medical team can cause irreparable damage. Creating greater awareness through ongoing research will lead to greater education within the medical field. Knowledge saves lives and alleviates the fears the general public may experience when they encounter someone who is different and lives life with an illness or disability.

With thanks to the Wellcome Centre for Mitochondrial Research at Newcastle University and Epilepsy UK for sharing Paolo’s story with us

To find out more about how the trust and Newcastle University work together to transform the lives of patients with mitochondrial disease, visit The Wellcome Trust Centre for Mitochondrial Research Newcastle UK (newcastle-mitochondria.com)

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