In 2019 our extended family discovered the existence of a genetic condition called Lamin A/C mutation. It was uncovered during exploratory tests for potential heart issues which included genetic screening. This disease is both untreatable, and incurable, resulting in limited life expectancy of 35-45 in males and 45-55 in females.

As the condition was so rare, the consultant wanted to understand how the gene was inherited, and whether anyone else could be impacted. It transpired that all three brothers from the same family were affected. The likelihood of inheritance was 50/50, and we waited patiently to see if any members of our immediate family were affected. Our results were bitter sweet. My wife was positive, and our two boys were negative. Our wider family have had several further members test positive, so we need to do all we can to find a future cure for them all.

We have decided to run the Brighton Marathon as team “Sharksters”, in hope that BHF will find a cure for all Lamiopathies. Matthew Sharkey, Charlotte Godfrey and I will run as the Brighton Marathon Sharksters!!! 🦈

So what is LMNA / Lamin Disease / Lamin A/C Mutation / Laminopathy?

Lamin Disease is a condition that devastates lives and families, causing a wide range of diseases called laminopathies. These include dilated cardiomyopathy associated with poor prognosis, and high heart rate with sudden death, due to conduction defect and early ventriculat arrythmia

Around 95% of patients present with a form of dilated cardiomyopathy, having poor prognosis, high mortality, and a rapid evolution toward end-stage heart failure.

Lamin Disease is a condition that devastates lives and families. It is a mutation of Lamins A and C nuclear intermediate-filament proteins, which occurs in almost all living cells, and causes a variety of diseases that primarily affect striated muscle, adipocytes, peripheral nerves or cause features of premature ageing.

This condition has NO cure, and unlike conventional advice for Heart patients, (to adjust diet and increase exercise) there is no such advice for Lamin disease. In fact, there is such a high risk of sudden death, that any exercise deemed high intensity should be avoided. Patients are also advised to have Implantable cardioverter-defibrillator (ICD's) installed once the genetic mutation is detected (irrespective of age) to mitigate risk of arrhythmia or sudden death.

Where are we now?

The British Heart Foundation have funded critical genetic research into understanding DCM associated with laminopathies, This has been carried out in conjunction with prestigious institutions such as Imperial College London and Oxford University.

https://www.imperial.ac.uk/news/186340/largest-ever-study-fatal-heart-condition/

Funding BHF will continue to provide critical research to help find future treatments or cures, and with the medical and research innovation seen during Covid, I remain hopeful that we are on the cusp of achieving amazing things through technological advancement to eradicate this devastating disease.