Understand
Mother shares the grief of watching her daughter regress from Batten disease
Overview
Cheryl, a mother from Lancashire, has spoken about the heartache of watching her seven-year-old daughter, Mabel, regress due to Batten disease. Mabel was diagnosed in June 2023 with the rare, incurable, and life-limiting genetic condition after initially showing signs that concerned her family and nursery workers. The family is now raising funds by participating in a Tough Mudder event to purchase a wheelchair-accessible van and create memories with Mabel and her sister Maisie.
Key points
- Mabel was diagnosed with Batten disease at age four, a rare and incurable degenerative condition affecting the nervous system.
- The condition causes seizures, mobility loss, visual impairment, and early death, with life expectancy typically between five and ten years.
- Initial concerns arose around 18 months of age when nursery staff noticed Mabel walking on her tiptoes, leading to early suspicions of autism or slow learning.
- Mabel suffered her first seizure in January 2023, followed by extensive hospital tests before her formal diagnosis in June 2023.
- Batten disease is caused by a rare genetic inheritance where both parents carry a faulty gene, resulting in a one-in-a-million chance of transmission.
- The family and friends are fundraising by taking on a Tough Mudder assault course to buy a wheelchair-accessible van and make memories.