11-Month-Old Girl Diagnosed with Rare Genetic Disorder That Affects Fewer Than 100 People: ‘Breaks My Heart,’ Mom Says
AOL.com • • health
Key Points:
- Kayleigh and Ryan Dunn’s 11-month-old daughter, Lorelei, was diagnosed with the rare genetic disorder CACNA1E, affecting fewer than 100 people worldwide, causing frequent seizures, mobility challenges, and the need for a feeding tube.
- Lorelei’s neurologist, Patrick Lawlor, described her condition as one of the most severe he has treated, with clusters of seizures occurring up to 20 times per day, and noted the potential for treatments to improve her condition.
- Kayleigh shares Lorelei’s health journey on TikTok, receiving widespread support, especially after Lorelei’s G-tube surgery in January, while balancing caregiving with part-time work due to family medical and financial challenges.
- The family’s close friend has launched a GoFundMe to assist with medical bills, as Kayleigh’s husband Ryan is recovering from a serious back injury, and Lorelei’s special needs insurance approval has been delayed.
- Despite the hardships, Kayleigh remains hopeful their story will raise awareness for neurological testing and treatments, expressing her deep commitment to doing everything possible for Lorelei’s care.
