29-Year-Old Single Mom Diagnosed with Rare Form of Alzheimer’s Disease: ‘I’ve Started to Notice Small Changes Already’

29-Year-Old Single Mother in Australia Receives Rare Alzheimer’s Disease Diagnosis

Erin Kelly, a 29-year-old single mother from Eagleby, Queensland, has recently been diagnosed with a rare form of Alzheimer’s disease, sparking conversation about her journey ahead. This devastating news came after tests confirmed in May 2024 that she had inherited a rare genetic mutation, PSEN1, from her mother, Robyne, according to a report by 7News.

Alzheimer’s disease is typically associated with older individuals, aged 65 and above. However, Young-onset Alzheimer’s disease, affecting individuals younger than 65, is a less common form of dementia. Erin Kelly’s family history paints a heartbreaking picture as her mother succumbed to the disease at the young age of 50, along with other family members who passed away in their 40s. The hereditary nature of the disease cast a shadow of uncertainty over Kelly’s future.

Initially in denial about the possibility of inheriting the genetic mutation, Kelly’s father revealed in January 2020 that she and her siblings had a 50/50 chance of developing Alzheimer’s disease. This unsettling revelation led Kelly on a journey of self-awareness and acceptance. Scans conducted in June revealed the initial signs of damage to Kelly’s neurons, impacting her cognitive functions.

Speaking about her diagnosis, Kelly expressed concern about breaking the news to her 8-year-old daughter, Evie. The challenge of explaining such a complex and emotional situation to a young child weighs heavily on Kelly as she navigates her new reality. With symptoms already surfacing, such as word recall difficulties and confusion, Kelly is determined to cherish every moment with her daughter.

In a heartfelt attempt to access potential treatments, Kelly’s stepsister, Jessica Simpson, launched a GoFundMe campaign to raise funds for medical expenses. Access to treatments like Leqembi, aimed at slowing the progression of the disease, presents a glimmer of hope for Kelly and her loved ones. However, financial constraints and limitations on clinical trials in Australia pose additional challenges in her treatment journey.

Alzheimer’s disease, particularly in its early-onset form, remains a complex and relatively less understood condition. The genetic mutation PSEN1, inherited by Kelly, is one of the factors contributing to the development of this disease in younger individuals. The rarity of such cases underscores the need for increased awareness and support for those facing similar diagnoses.

As Kelly bravely confronts her diagnosis and the uncertainties that lie ahead, her story serves as a poignant reminder of the resilience and courage displayed by individuals grappling with life-altering health challenges. The impact of Alzheimer’s disease goes beyond the individual diagnosed, touching the lives of family members and caregivers who navigate the emotional and practical complexities of providing support.

In the face of adversity, Erin Kelly’s journey stands as a testament to the strength found in vulnerability and the power of community support. As she navigates the complexities of living with a rare form of Alzheimer’s disease, her story sheds light on the importance of empathy, understanding, and solidarity in facing health crises.