Mother Raises Funds for Daughter’s Rare Chromosome Disorder

A mother from Cradley Heath, near Birmingham, is advocating for her daughter, Dottie, who has been diagnosed with a rare chromosome duplication disorder. The diagnosis emerged during a hospital visit for an unrelated stomach issue, revealing the challenges faced by the two-year-old.

Gemma Loveridge, a 41-year-old full-time mother of four, first grew concerned about Dottie’s development after she began nursery. Dottie, born in December 2022, was unable to speak even basic words and had difficulty walking. She often exhibited distressing behaviors, such as hitting her head or hands. Following a referral to a pediatrician in August 2024, an MRI scan revealed a cyst on Dottie’s brain. However, the underlying cause of her developmental delays was not identified until November 2024.

While at Russell’s Hall Hospital in Dudley for her stomach issues, blood tests revealed that Dottie had a duplicated 15th chromosome, known as Dup15Q. This rare genetic condition is associated with neurodevelopmental challenges. Gemma shared her fears about Dottie’s future, stating, “It is unlikely Dottie will develop past the mental age of a three-year-old. She can’t communicate at all, so I have to guess what she wants.”

Gemma expressed feelings of guilt, questioning whether she might have contributed to her daughter’s condition. Doctors indicated that the disorder likely has genetic origins, reinforcing her concerns. “It’s very upsetting,” she said, reflecting on the emotional toll. “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.”

The complexity of Dottie’s condition is compounded by autism, epilepsy, and hypotonia, which results in low muscle tone. The cyst has also led to thyroid and hormonal problems, with the full scope of her health challenges still unclear.

Raising Dottie alongside her three other children presents significant challenges. “Dottie often attacks her siblings, and much of my attention is diverted to caring for her,” Gemma explained. The strain affects their family dynamic, and she worries about not being able to give her other children enough attention.

Despite these challenges, Gemma finds joy in small moments. “When I see her smile, all that stress fades away. She loves water, so we try to take her swimming as much as possible.” Yet, the physical demands of caring for Dottie are taxing, especially as she has to carry her everywhere due to Dottie’s size and separation anxiety.

Gemma’s relationship with Dottie’s father, Davie Byfield, remains supportive despite their separation. Davie, 36, cannot work due to a non-functional neurological disorder but provides care for Dottie two nights a week, allowing Gemma some respite. The family is planning a holiday to Egypt in September 2024, a welcome break for them all.

To enhance Dottie’s communication, Gemma is fundraising for a special device costing £8,000. This tablet-like instrument uses eye-tracking technology and simple images to help express basic needs and feelings. Having already reached her funding goal, she plans to allocate excess funds for potential stem cell treatment in Germany, which she believes could improve Dottie’s quality of life.

Gemma is also considering laser surgery for Dottie’s brain cyst, as the procedure is not available through the National Health Service (NHS). Additionally, she aims to purchase essential items like a wheelchair for her daughter’s future needs.

Despite the hardships, Gemma cherishes the moments when all her children play together. “Seeing them in the park, it makes all the struggle worth it,” she said. For those interested in supporting Dottie, donations can be made through her fundraising page.

Gemma’s journey reflects the resilience of families navigating rare disorders, highlighting the importance of community support and understanding.