Mum of four noticed speaking issue in her youngest, an MRI scan revealed the worst
Gemma Loveridge noticed three seemingly innocuous symptoms in her two-year-old that lead to the discovery of an extremely rare chomosome disorder that means little Dottie won’t mentally age past three-years-old
Over the last year, single mum Gemma Loveridge has endured an emotional rollercoaster as her youngest daughter was initially admitted to hospital for a tummy problem and emerged with multiple diagnoses. Among them was an extremely rare chromosome duplication that suggests little Dottie will probably always have the mental capacity of a three year old.
Gemma revealed: "I feel guilty thinking that it's something I've done to her. But I do what I need to do for her. I just put a smile on and try and get on with it, try and make her life as good as I can."
The mother of four gave birth to her youngest in December 2022 but only began spotting the first warning signs when Dottie started nursery. Unlike her elder siblings, the two year old couldn't speak being unable to say words like 'mummy' or 'daddy' or walk and frequently hit her hands or head.
Last August, she had an MRI scan on her paediatrician's instructions which revealed a cyst on her brain. Just three months later, Dottie, who also suffers from dairy intolerance and coeliac disease, was hospitalised in Dudley for a stomach issue and had blood tests done.
By chance, these tests uncovered a duplicated 15th chromosome. This exceptionally rare condition impacts neurological development, and her mum said it's highly unlikely Dottie will ever mentally progress beyond three years of age because of it.
Gemma revealed that a chain reaction of health issues have been triggered by this disorder, leading to diagnoses of autism, epilepsy, and hypotonia. On top of these, the brain cyst is causing thyroid, hormonal, and eye problems, stunting her growth to the size of a one year old.
The full impact of these conditions on Dottie remains uncertain due to her young age and the rarity of her disorder. Gemma, 41, grapples with the emotional burden of possibly having passed this genetic condition to her daughter.
She said: "Doctors told me that it's likely to have come through me as if it had come from her father, she would not be showing symptoms. I feel guilty thinking that it's something I've done to her."
Despite the challenges, Dottie's three siblings have coped well, even though they sometimes bear the brunt of the toddler's outbursts and have lost some of their mother's attention. Gemma said: "I feel guilty that I can't give them enough attention and they often get upset.
"By the time I've finished with Dottie, I'm exhausted and have no energy. Dottie doesn't sleep either, which makes me even more tired. It feels like I'm driving a car with no petrol in it."
Gemma, who battles arthritis and sacroiliac joint dysfunction herself, has a positive relationship with Dottie's dad, Davie Byfield. Although the couple have parted ways, Davie, hindered by his non-functional neurological disorder which keeps him from working, still takes care of Dottie two nights a week to give Gemma some respite.
Looking ahead, Gemma is pulling out all the stops to secure pioneering treatment for Dottie. She has successfully fundraised over £8,000 for an innovative tablet-like device that promises to help Dottie's communicate.
Any additional funds from the campaign will go towards stem cell therapy in Germany, aimed at mitigating her autism symptoms. Moreover, a laser surgery in the US, not offered by the NHS, could potentially treat the cyst on Dottie's brain.
Gemma is also setting money aside for essential items Dottie will require as she grows, such as a wheelchair. Despite the challenges, the 41 year old mum shared: "Seeing Dottie smile when she finds something she likes, it's enough. Just seeing all the kids together playing in the park, it makes all the struggle worth it."