Mum says:
Javeria was a determined, cheeky little girl who wanted to do everything herself. Her brother Salah would toddle over to cuddle her and make her laugh. They were thriving.
Then, at just 18 months, everything began to change.
Both children were diagnosed with Infantile Neuroaxonal Dystrophy — INAD — an ultra-rare genetic condition affecting just 200 children worldwide. It progressively destroys the nerve connections between the brain and body, stripping away movement, speech, and sight.
Javeria is 8 and Salah is 6. Neither can walk, sit unsupported, or speak. They are partially tube fed. What was once two siblings playing and snatching food from each other is now stolen glances across a room. Yet still, they smile. Still, they try to lift their hands to touch each other's faces.
Our beautiful girl passed away on 26th January 2023 surrounded by those who loved her.
Our hearts are completely broken.
Evie was born a healthy 6lb 3oz baby girl in 2012. She reached all of her milestones, she sat up, started crawling, and even started saying a few words. She was the happiest baby with the cheekiest little personality and the most infectious laugh.
When Evie started walking just after her first birthday I noticed she was very wobbly and kept falling down. After that she stopped weight bearing and continued to lose all of the skills she had previously learned.
A year later in November 2014 after numerous tests and uncertainty we was told the devastating news that Evie had INAD. There was no treatments, no cure, nothing they could do. Evie would most likely not make it to her tenth birthday. ‘Go home and love her’ I remember those words so clearly.
Evie was 10 years old and had lost all of her abilities. She was completely non-mobile, non-verbal, tube fed, catheterised and on a number of different medications for pain relief. Evie enjoyed music, swimming, going to school and lots of cuddles.
Mum says:
Zoe is 11 and lives in Leeds. She developed normally as a baby, but never managed to walk independently. At age 2 this was considered to be due to hypermobile joints and lack of confidence. Soon after her second birthday there were clear signs of losing skills.
An MRI showed cerebellar atrophy, the part of the brain that controls coordination and balance had developed normally and then shrivelled. Blood tests diagnosed Zoe with INAD at age 2 and a half.
Since then, Zoe has continued to lose skills. She is now non verbal and is tube fed. She has lost head control, and is unable to move without help. She struggles to manage secretions and suffers from stiffness and spasms in her muscles.
She is entirely dependent on others for everything. It is harder to get a reaction from her but she still enjoys laughing and smiling.
Family says:
Our beautiful princess popsie has fallen asleep for the last time snuggled in bed with mummy and daddy surrounded by her family and so much love.
Our hearts are broken but we are so grateful to have had 8 amazing years with you, you have taught us so much, you have shown us the most incredible life and you will continue to be our inspiration.
You have always been and always will be our Princess warrior Popsie. Mummy, daddy, big brother Harley and sissy love you with all our hearts.
17.10.2015-23.10.2023
Lilliarna lived in Exeter. She was diagnosed with INAD just before her 4th birthday. She reached most of her milestones although wasn’t able to walk independently. Around 18-24 months signs of regression in her development started to appear. After many tests, scans and joining a gene research programme we got the answers.
Lilliarna slowly lost the skills to eat and drink and was fully tube fed. Her eye sight was slowly deteriorating and she became non mobile. She developed epilepsy and required oxygen at night time.
Lilliarna attended a special school which she loved and they helped with her physiotherapy, communication skills and all her medical needs.
Although Lilliarna’s communication was limited she could still choose her favourite toy and she was such a happy girl with a smile that brightened up the room.
Family says:
Triana has always been an incredibly happy, loving and cheerful little girl, with a beautiful smile that lights up every room.
When she was around 3 years old, we began to notice that she was walking on her toes. At the time, the doctors did not think it was something to be concerned about. As her parents, however, we could see that something was not quite right. We went from doctor to doctor, both privately and through the public health system, trying to understand what was happening.
Despite her unusual gait, Triana continued to develop like any other child for several years. But when she was 5, our world began to change. Little by little, she stopped being able to jump as she had before, she could no longer run at the same speed, she found it increasingly difficult to climb and she began falling much more often.
That was when we were referred to a neurologist. I had to fight to get the genetic testing done, because I knew there was something more going on. Nine months later, in June 2026, our greatest fear was confirmed: Triana was diagnosed with atypical neuroaxonal dystrophy (ANAD), a form of PLA2G6-associated neurodegeneration (PLAN).
Since receiving her diagnosis, we have not stopped searching for answers and, above all, for hope. We are determined to do everything we can to give Triana the opportunities she deserves.
Today, Triana uses a walker outdoors, although she still manages many things independently at home and at school. Her language and cognitive abilities are still developing, and she continues to learn, understand and communicate with us every day.
Triana’s language and cognitive development are significantly behind what would be expected for her age. She has difficulties speaking and expressing herself, and she does not always understand what is said to her, especially when it involves more complex language. She is not able to communicate or understand at the level expected of a 7-year-old. However, despite these difficulties, she continues to acquire new skills. She is still learning, understanding new things and making progress in her own way, which is something that means so much to us.
Triana is so much more than her diagnosis. She is a happy, loving and incredibly strong little girl. We will continue fighting for her and for all the children living with ANAD and INAD, hoping that one day they will have access to treatments that can change their lives.
Family says: