Two-year-old diagnosed with rare chromosome disorder after chance hospital visit

In the United Kingdom, a mother from Cradley Heath, Gemma, found out that her two-year-old daughter, Dottie, has a rare genetic disorder after an unrelated hospital visit to Russell's Hall Hospital in Dudley, where she was treated for a stomach issue. During this visit, doctors discovered that Dottie has a duplicated 15th chromosome, known as Dup15Q, which is linked to developmental delays, autism, epilepsy, and severe hypotonia. Gemma expressed the emotional toll it has taken on her family, stating that Dottie's inability to communicate makes it difficult for them to connect, and she often feels guilty regarding her daughter's condition. Doctors have suggested that the chromosome duplication is likely genetic and may have resulted from Gemma, as symptomatic cases in Dottie would not indicate her father's contribution, according to their assessment. Driven to provide Dottie with the best care possible, Gemma has begun fundraising efforts to purchase a communication device that would help her in expressing her needs and to seek laser surgery for a brain cyst that is not accessible through NHS services. Gemma's determination reflects her dedication to Dottie's well-being amidst her own personal health struggles, including arthritis, showcasing the challenging dynamics of managing family care alongside dealing with health issues. Additionally, Gemma's six-year-old daughter has also expressed a desire for Dottie to be 'normal' so they could interact and play together, further emphasizing the emotional complexities faced by the family as they navigate their new reality. As they continue their fight, the family remains hopeful that advances in communication technology can significantly improve Dottie's ability to connect with others and expand her quality of life.