Christopher’s Story: Marfan Awareness Month

Health should not hinge on the luck of the draw. On the arbitrary instance of underlying awareness, or otherwise, amongst medical professionals. There is a life-threatening gulf between those who know and those who don’t. Today we tell the story of Christopher, whose Marfan syndrome was captured at an early age, allowing him to claim his condition. And allowing him to live a full and healthy life. 

Born to non-Marfan parents, Christopher arrived in the world in long form. A long slender baby with long slender fingers. At the age of three he developed a cough, a seemingly mundane cough that nonetheless propelled his parents to the GP. A former paediatrician, the GP detected a heart murmur which denoted a floppy mitral valve and this prompted Christopher’s referral to Kingston Hospital which in turn led him to the Genetics Centre. It was here that Christopher was diagnosed with Marfan syndrome at the age of three/four. And it was through this definitive diagnosis that Christopher could be assured of an all-encompassing medical approach to his multi-faceted condition. Under Dr Child’s guidance he was monitored extensively across the spectrum of systems - the eyes, skeleton and heart.

Swept into a carousel of hospital appointments, Christopher has been prodded and probed, measured and x-rayed for the last 11 years. A life less ordinary perhaps, but one that is his ‘ordinary’. At Brompton and St George’s Hospitals his aorta was carefully monitored; and at Great Ormond Street and Moorfields Eye Hospitals, his eyes carefully scrutinised (with lensectomies at the age of nine, thereby restoring with the intervention of glasses and contact lenses, his sight). At Kingston Hospital his rapidly growing bones were measured and marvelled at. Much school was missed, and much time was spent in hospital playgrounds and doctors’ waiting rooms. Much time was spent keeping him amused during these long yawning waits. Patience was required from both sides of the child-parent relationship.

At the age of eight and with his aorta reaching a dangerous limit Christopher was placed on the angiotensin receptor blocker, Losartan. But this was insufficient in stalling the growth of the aorta. Five years later he underwent the PEARS procedure and mitral valve repair at the Brompton Hospital. It was a 13-hour operation that proved entirely successful. Within 10 days he was recovering at home but impatient to return to school! This was just over a year ago, and lockdown has since sabotaged his ambition to be back in the classroom physically. For the time being he has to make do with the virtual equivalent. In the meanwhile he is feeling the benefits of his healthy heart while recreating Paul Gascoigne’s match-defining goal against Scotland. The future is bright!

Awareness Saves Lives. Help Us Find the Missing 15,000.