Research As Empowerment!

Research facilitates diagnosis, by revealing the underlying cause. Research is empowering. The following story is emblematic of the need for more research into, and greater awareness of, Marfan syndrome. When your history is a mystery, your past a blank page that medics are reluctant to fill, you are left feeling powerless. Graeme was adopted at 6 weeks old, and has lived a life punctuated by health problems. Robbed of his medical identity he has researched it himself and is en route to a diagnosis of Marfan syndrome. Graeme has very generously agreed to share his story and his photos.

Written by Graeme
 
I was adopted at 6 weeks old in the 1960s, so I had no family medical history.
I have had health problems for most of my life, most of which were attended to at the most basic level, left unresolved and I was dealt with as a hypochondriac, as my doctor was unaware of any genetic issues. My experience is, that the medical profession assumes good health unless symptoms indicate otherwise.

In 2012, my breathing and general health started to deteriorate and after misdiagnosis of asthma by the local consultant, I was sent to the Brompton and Harefield Trust in London, who diagnosed a leaking aortic valve, dilated aortic root, a narrowed oesophagus and GORD (Gastro-oesophageal reflux disease), with the comment that this may be Marfan-related, again no tests or evaluation was done.

My health has continued to deteriorate and last year I was given a diagnosis of ME/Chronic Fatigue Syndrome/Post Viral Malaise (now called 'long covid'), even though my symptoms were common to Marfan as well as ME.

The heart specialists at the Hospital are happy not operating on my dilated Aorta, at it has only grown at 1mm per year since 2013, and so will not be classed as dangerous until it reaches 60mm, probably in a few years, as Marfan has not been proved. If Marfan is present, then I should have been operated on 3 years ago, so a test would appear to be essential.

As I was adopted, until recently I had no family history to rely on, but this year I got results from an Ancestry DNA test, which allowed me to contact blood relatives and they have Marfan symptoms too, although theirs are more visible (spider fingers, long face, stretchy skin, tall skinny build). My paternal grandmother died at age 30 from Mitral Valve disease in 1923, which may indicate Marfan, but it may have been a side effect of the 'Spanish Flu' corona virus of 1917-9, and no research has been done on the effect on the human body of 'Spanish Flu', so it is impossible one way or the other.

I have some physical attributes common to Marfan Syndrome - e.g. long toes, sunken chest, high arched palate and my GP now agrees I probably have Marfan syndrome, but thinks a test is unnecessary and refuses to send me for one, as there is no cure or treatment, and he will attend to the symptoms, although he has failed to do even this so far.