My family history
Disclaimer:
I have no medical background and the following is my story and just what I've learnt from what I've read, so it may not be 100% accurate. Please let me know if you see any corrections needed.
Background:
My dad and aunt died at age 28 and 24 respectively of aortic aneurysms and I am a 27 year old female. Not much is known about genetic conditions that cause the aorta to split.
People with a genetic condition called Marfan Syndrome are more at risk for having aortic aneurysms, as are other more newly discovered conditions Ehlers-Danlos Syndrome and Loeys-Dietz Syndrome, which have many features similar to Marfan Syndrome. They are essentially genetic disorders mostly affecting the connective tissue, which can cause aortic dissection due to weakened connective tissue in the aorta.
There was four children in my dad’s family, he and my aunt died, and my other 2 aunts are fine. They also believe that the chromosomes for genetic mutations for aortic aneurysms are autosomal dominant, which means that there is a 50% chance of offspring having the same condition. Certainly in my dad and aunts case, that is so. We have not been able to tell whether it came from my grandma, or grandpa’s genes though.
I had only just turned 4 when dad died, so I really had no idea what was going on, and growing up it wasn't something that was really talked about, and if it did, I didn’t understand it. My grandparents (even still) get upset even just talking about it all, so the subject was avoided. As well as that, I just didn’t realise it could affect me, and I didn’t understand the medical terminology.
Discovering the aneurysm:
I started getting chest pains in 2005, so went along to my family doctor and started finally asking questions. My doctor dismissed the chest pains saying that since I did triathlons, if I had a heart condition I would have died by now. I had to almost beg her for a referral to a cardiologist. Luckily the cardiologist, Dr Peter French, was great, really keen to find out what's going on, and keep on digging to find some way of being able to tell convincingly whether I do or do not have an aneurysm. When I told him of information I had found on the internet, he didn't dismiss it at all, he asked me to send it to him, so he could contact the authors and find out more information from them. If I never had the chest pains, I would have never have gone to see the cardiologist.
We finally discovered that it was an aortic aneurysm and that it was very likely genetic, I was very likely at risk, and I really should be getting an echocardiogram every 2 years or so and a CT aortogram every 4-5 years to monitor things. I had previously thought it was an ECG I was supposed to get, which would tell me diddly squat if my aorta was enlarged, which is the first warning sign.
At this time the cardiologist did the echocardiogram and discovered that my aortic root near the Sinus of Valsalva were prominent. It's just outside the normal range, which isn't a huge deal, but given that the measurements in the rest of my aorta are right in the middle of the normal range, and the family history, they were a bit worried.
Confirming the diagnosis:
In late November 2005, my husband Andrew and I relocated to Mountain View, California for his work, and discovered we were right near Stanford Hospital. We also discovered at Stanford there was a Stanford University Center for Marfan Syndrome and Related Aortic Disorders. I knew that I would finally get the knowledge I was after.
I made an appointment through the Stanford Marfan Clinic Coordinator Sunny Pellone (who makes the whole Stanford experience such a pleasurable one!), and saw Dr David Liang. After a series of physical checks for markers of the known connective tissue disorders (some of the ones I remember were higher arm:leg length ratio, split uvula, detached retina and hypermobility), it was determined that I definitely didn’t have Marfan’s and because I was negative for almost of all the checks, it was unlikely I had the other Syndrome’s. Blood tests have since confirmed that. The only signs I do have that indicate anything are a high palate, and as was shown from a recent CT aortogram, a “bovine artery” I think it was called - the left common carotid artery branches off the brachiocephalic artery rather than the aorta itself. Apparently this is quite rare, but they see it more often in patients with genetic aortic problems.
The pregnancy:
My aneurysm was monitored closely for about a year and a half when I fell pregnant in early 2007. We had been advised that it would be safer to use a surrogate mother because they just didn’t know the risks, but we deemed the risks to be low enough for me to carry the child myself.
I saw a high risk obstetrician who monitored me very closely, and advised me that a cesarean section at 36 weeks would be the safest way for me to deliver the baby, as it would be a controlled environment, and they could be sure I wouldn’t have any potentially dangerous blood pressure spikes from labour that could cause the aorta to split.
Unfortunately, on September 4 2007, at 34 weeks, our baby died due to a cord accident. It was an unpredictable, freak accident. I still went through the c section as it was still deemed the safest way to deliver our baby boy, Joshua. More about Joshua and the stillbirth is here.
While I was in hospital for the cesarean, Dr Liang gave us a heads up that before we considered trying again for another baby, that we may need to consider getting the aorta fixed, as it was too risky to put it through another pregnancy. They had previously advised against having more than one child unless we used a surrogate, or adopted a child.
A subsequent echo not long after we lost Joshua was compared to the earlier scans at Stanford, and it was confirmed that the aorta size had definitely grown a small amount over the time and over the pregnancy. It was still only at 4.5cm, but they consider anything over 4.5cm to be quite dangerous for a pregnancy. So after discussing it, we decided to get it fixed.
The decision for surgery:
Despite the fact that it’s scary sounding surgery, and it’s not at the high risk stage for every day life, I wanted the peace of mind. I’d had the fear of this hanging over my head for close to 3 years. My aunt was younger than me, and my dad only a bit older than my current age, it was a definite possibility. There’s not much proof of anything, but there’s didn’t seem terribly big when they dissected. I had to give up all of my sport which I love, we were limited in how many children we could have, and I wanted to know that once we had kids, I would be able to watch them grow up, unlike my dad and aunt.
It wasn’t a hard decision, and after talking to the team at Stanford - Dr Liang, my cardiologist, Dr D Craig Miller, the thoracic surgeon who is one of the best in the world at this type of surgery, Michael Sheehahn, RN, one of Dr Miller’s nurse coordinators, and of course Sunny Pellone, the Marfan Clinic Coordinator to tell us like it is, we were confident that this was a good move, and it was “routine surgery”.
Through the Stanford team we asked almost every question under the sun relating to the surgery and recovery, and got many props to help us understand what was happening. So with all that we booked in a date for surgery - January 3, 2008.
For more information about the surgery itself, and my recovery, see here.
And to finish:
When I first started searching for information in 2005, I discovered that there really wasn't much that was useful. They have only recently started to do more research into Familial Aortic Aneurysms due to aortic aneurysms being in the top 10 killers in the US, the lack of research, the lack of public awareness and most importantly - the high mortality rate of people who do have an aortic dissection.
As is reported in a report by the New York Presbyterian Hospital "If left untreated, about half of patients with ascending aortic aneurysms greater than five and a half centimeters will dissect or rupture within two years. Once a dissection or rupture occurs, the surgical outcome may not be as good. According to results published by the International Registry for Aortic Dissection in December 2002 Circulation, operative mortality for aortic dissection repair is 32.5% in most centers.
As well as this (according to something else I read), aortic dissections are often misdiagnosed as heart attacks as the symptoms present as chest pains. Unfortunately there's not a lot of time to operate and fix the problem before it's too late, and there is a 90% mortality rate for misdiagnosed aortic dissections, whereas a correct diagnosis dramatically decreases the number of deaths.
So once again it comes down to the education of people and medical personnel.
So what I've done is made a webpage of information I find that relates to aortic aneurysms, particulary Familial Aortic Dissections, and cardiac surgery in young people. There’s a lot of information out there on cardiac surgery, but it mostly relates to people a lot older than me. What I experienced with my surgery, and what I hear from other young people is that it’s a much less daunting surgery that it sounds.
People need to understand the importance of this condition and take it seriously, and people need to ensure children of those who have this condition are well informed, and make sure they know what steps they need take to monitor what their heart is doing. Age, sex and fitness levels do not seem to matter as my dad and aunt have proved.
If you would like to contact me for more information, or if you have a link I can add, or if I've managed to accidentally breach copyrighting laws... please email me at sarah@pollock.id.au.