Evesham, Worcestershire – James Bexon faced a daunting revelation at the age of 33: he was told that he had only two to three decades before developing Alzheimer’s disease. This news came after his father’s diagnosis at 58, prompting James to undergo an NHS test in 2018. The results indicated a 99.9% chance of him inheriting a rare genetic form of the condition. The implications were significant, especially concerning whether he might pass the gene on to his two sons, Elijah and Jacob.
Living in Tan-lan, Gwynedd at the time, James embarked on the journey of testing for genetic young-onset Alzheimer’s. His father’s passing from the disease in late 2017 marked a poignant moment as James awaited the results of his own test. With a strong family history of Alzheimer’s, James navigated through counseling sessions leading up to the crucial blood test conducted in March 2018. Six weeks of anticipation concluded with the confirmation of his genetic predisposition to the disease.
The realization that the protein amyloid buildup, a precursor to genetic dementia, could already be affecting him stirred contemplation about the future. As his children, Elijah and Jacob, grew older, James pondered the fleeting nature of time and the desire to witness them reach significant life milestones. The specter of Alzheimer’s looming over his family spurred James and his wife Gemma to make the difficult decision of testing their children for the gene while in the womb, resulting in relief upon receiving negative results.
In Wales and England, individuals can only undergo NHS testing for rare forms of inherited dementia, such as young-onset Alzheimer’s. Dementia UK nurse Jules Knight emphasized the crucial role of early diagnosis in treatments like donanemab, which shows promise in slowing cognitive decline. Private tests for other dementia forms were highlighted as not being readily available through the NHS, contributing to uncertainties regarding genetic risk evaluations.
Despite concerns over private testing accuracy, NHS genetic tests offer definitive results regarding the presence of gene mutations linked to Alzheimer’s. The emotional support provided by the NHS throughout the testing process was underscored by Ms. Knight, emphasizing the importance of comprehensive counseling both before and after genetic testing. For James, now residing in Evesham, Worcestershire, the NHS test has brought a sense of closure and assurance to his family, knowing that they have taken proactive steps to address genetic Alzheimer’s within their lineage.