Unique creations, we each retain our inherent individuality through thick and thin, in sickness and in health. While Marfan syndrome often expresses itself in a tall thin stature and long bendy limbs, every Marfan is different and some are physically shorter and non-bendy, such as Sarah! Today Sarah tells her fascinating tale of Marfan through the generations, the power of early diagnosis, three heart surgeries, and how her father has recently defied expectations by turning seventy. This is all while reminding the world that we Marfs are each and every one unique!
Marfan and Me by Sarah Nuttman
Every one of us with Marfan is as intricate as a snowflake, each with its own patterns and distinguishing features that make us unique and beautiful.
A FAMILY AFFAIR
Marfan runs deep in my family. My father, four of his five siblings and some of their children, were well aware from a young age that they had Marfan syndrome.
My paternal grandmother, Margaret, died at the age of 45 from Marfan-related complications, and who knows how much further back the mutated gene goes!
I was lucky enough (and yes, I count myself lucky on this one) to be diagnosed from birth. I suppose real luck would have been not having it at all, but as we’ve seen already from the stories shared last month, diagnosis is key to treatment and saving lives and had I been a spontaneous mutation, I’m not sure the condition would have been picked up.
I’m 5ft 9in so not overly tall, my joints aren’t hyper mobile, I am slightly overweight, my arm span is normal and to look at me, I don’t immediately present with the obvious physical indicators.
THE HEART OF THE MATTER
For me, the way Marfan affects my body most is all on the inside. The heart of the matter.
I was 13 when my cardiologist decided my aortic root and valve were past the point of no return and I’d need surgery at Great Ormond St. hospital. I was fitted with a metal valve in June 2003 and have been on anti-coagulation therapy since.
Adolescence and early adulthood were pretty normal, I attended school, college, university and did most things my friends did with no real impact from my condition. Then, in my final few months of uni, at 22 years old, I suffered a type B dissection one random Thursday night in November. The pain was like no other I’d felt before and I was so scared that this was it, I was dying. As it turned out, it wasn’t my time to go.
My local A&E department is very small, but because I was diagnosed and because the medical team knew about Marfan, the doctors knew what they were looking for and determined the cause and immediate treatment plan very quickly.
My dissection was stabilised with medication for a couple of years, until a subsequent aneurysm in my descending aorta reached a problematic size, so in 2013 I had my second open-heart surgery, this time at Birmingham QE hospital, where they replaced a portion of my descending aorta with a prosthetic sleeve.
In 2016, open-heart surgery number 3 followed, my aortic arch was replaced with a ‘frozen elephant trunk’ which strengthened my main blood vessel and deterred further rupture. Both surgeries in adulthood came with complications, but no significant long-term damage.
THRIVING WITH MARFAN
Over the years, I have also had three detached retinas and my lenses removed in both eyes, I have Dural ectasia and mild kyphosis.
Despite this, I hold down a full-time job, bought a house with my partner several years ago and live as good a life as any 32 year old.
I swear I’m not showing off with that last part (believe me, I know how tough the housing market is right now!) but I’d like people reading this to know that even the scariest, most life-threatening parts of our condition can be managed and monitored, and patients can live happy and normal lives, even when facing the toughest procedures.
I have another aneurysm growing in my abdomen, but I am monitored carefully and I know when the time comes for surgery again, I will gratefully trust my body, mind, and those fantastic surgeons to get me through.
Stay strong Marfan Snowflakes!
PS My father is celebrating his 70th birthday! His mother died at 45, and his affected siblings before they turned 55. He did not expect to reach this age and has defied all expectations!