Evie was always a happy and content baby, and was reaching all of her milestones – rolled over, sat up, crawled, babbled, all from an early age. At six months old she was able to clap her hands, wave goodbye, and you could even make out the odd word. When Evie took her first steps just after her first birthday in July 2013, she was very wobbly on her feet as first walkers are. (Evie being my first baby I just figured this was normal and her balance would improve over time.) However this wasn’t the case. I started to become increasingly concerned after Evie had been on her feet for a good two months I realised her ‘wobbly walking’ was not improving.

This was when I decided to seek medical advice. Our local team seemed baffled and couldn’t help us with any answers. That’s when Evie was referred to see a neurologist at Great Ormond Street Hospital (GOSH) London and started weekly physiotherapy and occupational therapy at home.

September last year Evie was admitted to our local hospital when she suddenly stopped walking and crawling. She was taken in for an emergency MRI and lumber puncture at GOSH the same week. The MRI scan showed abnormal activity on the brain but still no diagnoss. We were called back for further tests (EEG, EMG, and blood tests) and these tests confirmed INAD.

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“Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

Prevalence is unknown, but more than 150 cases have been described, of which the majority are classic INAD.”

-Source

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As you can imagine this diagnosis was completely heartbreaking, the news no parent ever wants to hear. No treatments, no cure, no real hope. The sad truth is from this point forward all we can do is watch our baby girl deteriorate, and we are helpless to stop it.

Evie will be turning three years old during July this year, she cannot walk, talk, her crawling is intermittent and she finds it difficult to sit without support. Despite all of this Evie continues to melt hearts with her infectious smile. She really is an inspiring happy little girl who has taught me the true meaning of life and unconditional love. We have connected via social media with other parents battling the same condition (only 25 worldwide to date) which has helped us greatly in understanding some of the implications of her disease and most importantly, a group that we can share our hopes and fears with who understand the situation. We are now hopeful for a treatment or cure but that’s a long way off with limited resources and funding.

1 thought on “Evies Journey with Infantile Neuroaxonal Dystrophy”

  1. Noname says:

    I live in a small town in Illinois there is a little. Girl named grace also with this disease I may only be a child but I too cry just thinking about so I am here in Hillsboro selling “gracelets” rubber band bracelets I make and send money to Washington university for research please try to make a difference. Just mowing there yard or making them dinner helps. Do stuff that would take time out of there family time if they were to do it because they need every second of every day together. I also want to suggest physical therapy because grace does that and she can pick up her water bottle and float in a kiddy pool, I’m no rocket scientist but I do know that only twenty five children have this and that makes it extremely rare. Good luck

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