I had my end of the first trimester echo on Wednesday. I love echo days! I’m always a little nervous, especially during pregnancy, but our Marfan syndrome clinic is so great. I know that the cardiac team really cares about me as a person and not just as a paycheck.

The echo tech had a difficult time finding my abdominal aorta so one of the veterans came in. She talked all about the time our hospital hosted the National Marfan Foundation conference a few years ago. That’s the only conference I’ve missed in a few years unfortunately, but I told her what rave reviews it earned and thanked her for working so hard at the free clinic there doing echoes for everyone.

When it was time for my appointment, the clinic coordinator pulled up a chair and chatted with me about how my family is doing. I told her about Menininho’s new diagnoses and she related some similar experiences she’d had with one of her kids. How many of you go somewhere where not only the doctor, but other staff members know the names of your family members and remember things about them?

I got right down to business with my cardiologist when he came in. “I hate my medication and I think if I have to stay on it one more day I will go crazy.” I’m nothing if not blunt! For whatever reason, my OB really likes this one particular beta blocker for pregnancy and insists all Marfan women go on it. For the most part I’ve tolerated all betas just fine, so I didn’t care because I had to get off my ARB (another kind of blood pressure medication, which I was taking instead of a beta blocker for experimental purposes) anyway to get pregnant. Well, this one sucks. I’m getting all kinds of palpitations and my blood pressure has been anywhere from 80/50 (I almost passed out) to 135/80 (fine for a pregnant non-Marf, but not ok for someone with Marfan). My cardiologist explained the only reason the OB likes that particular medication is that it’s the only one that hasn’t been documented in pregnant women. He sided with me though (I knew he would!) and immediately paged the OB and let him know he was putting me back on the beta blocker I took last year. Hooray!!!

Even better was that my aorta is pretty much unchanged from where it was in February! I wasn’t expecting a change this early – I’ll be more concerned at the next appointments when the baby is larger – but I’ll take any good news. My aorta is actually at a really good size, one where I normally don’t worry about dissection, but in pregnancy the Marfan body is so unpredictable that any part of the aorta can grow rapidly. That’s a risk pregnancy or no, but much more likely during pregnancy due to the increased blood flow and increased blood pressure, not to mention carrying around the extra weight in the abdomen.

My cardiologist didn’t like the abdominal pictures from earlier in the day, so he brought in the portable echo machine to redo them himself. Then, since he was already scanning my abdomen, he asked if I wanted to see my baby. Of COURSE! So, the clinic coordinator and another doctor came in and we all had a baby viewing party. Smudge looks SO different even just a week later and immediately waved at us. My doctor tried to check the gender (external genitalia is developed by 12 weeks, which is how far along I am) and has a pretty good guess, but couldn’t be 100% sure. He said I should be able to tell for sure at my NT ultrasound next week, so cross your fingers! He’s also going to email me the pictures.

Like I said, it’s an awesome clinic.

And a note about the gender: Mark and I are going to find out this time. We didn’t with Menininho and Mark really wanted to, so I promised him that if we had another biological baby, we’d find out ahead of time. But, I’ve decided that if we are able to get a reasonable estimate of the gender next week that I will keep it secret from everyone but family (I don’t want the grammas to kill me!) until the Marfan conference in mid July. I’ll tell the teens first, and then it’ll be open game for the blog, Twitter, and Facebook. If we can’t figure it out then I’ll probably have to wait till my 20 week ultrasound at the end of July and then I’ll just tell everyone at once.

In case you haven’t heard, there’s more great news on the aortic dissection front! This news is two-fold.

First, the American Heart Association and American College of Cardiology have finally released their Guidelines for the Diagnosis and Management of Patients with Thoracic Aortic Disease. This covers Marfan syndrome and related disorders, like Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.

Now, it’s important to get the word out about these new guidelines of course, so the National Marfan Foundation (NMF) convened the Thoracic Aortic Disease (or TAD) Coalition. Actress Amy Yasbeck, wife to the late actor John Ritter (who died of an aortic dissection in 2003), wanted to raise awareness of aortic disease. She found the NMF, they suggested creating a coalition and put all the groups together. We’re very grateful that Ms. Yasbeck was so open to including ALL the genetic factors of TAD, not just familial aortic aneurysm (FAA), which is the illness that caused Ritter’s death (he’d had no idea that he had it).

I think the most exciting aspect of the coalition is the new Ritter Rules. Named for John Ritter, they’ve been put together to help patients be better advocates for themselves in the event of an aortic dissection, and to help identify their risk factors for aortic dissection to try to prevent one from occurring. Overall, I think they’re very patient friendly. Each point (urgency, misdiagnosis, imaging, risk factor, etc.) is clearly outlined, followed by a 1-3 sentence explanation. My only quibble is that I think they could have used simpler vocabulary at times, because the average reading level in America is between 4th and 6th grade, but that’s nit picking.

I also recommend taking the time to read people’s personal stories. My friend Steve Marpman is featured, and his story is amazing. Also included is Allison Dunvegan Reed, whose mother I know.

Be on the lookout for a lot more press on the new guidelines and Ritter Rules over the next few months!

Ritter and Yasbeck, courtesy of www.etonline.com

Many of us have felt the anxiety of trying to find a new doctor, and the frustration of having to “train” a doctor if a Marfan specialist can’t be found. Today’s post is going to be focused on the types of questions to ask a general cardiologist in order to discern how much they know about Marfan, as well as questions to hold them accountable. This is geared mostly towards patients seeking a diagnosis, but some are relevant for any Marfan or related disorder patient.

1) How many patients with Marfan syndrome have you treated before, and when?
Why this is important: This will give you an idea of the doctor’s experience, how up-to-date his information is, and how honest he might be. Both my current and previous doctors were able to provide me with roundabout numbers of how many had come through their clinic in the past few years.

2) What criteria do you use to diagnose a patient as having Marfan?
Why this is important: Currently, doctors should be using what is called the Ghent criteria. For now (this will be changing soon), that’s comprised of major and minor classifications of symptoms. A doctor who only looks at your heart/aorta and you height is missing the big picture. In fact, 20% of Marfan patients NEVER have aortic enlargement, and others don’t until middle age.

3) Are you familiar with Ehlers-Danlos syndrome, Loeys-Dietz syndrome, FAA, MASS Phenotype, and Beals syndrome?
Why this is important: These are disorders related to Marfan. When being evaluated for Marfan, your doctor should consider these disorders as well. If they’re not familiar with them, they need to get familiar with them. Treatment and prognosis is different for each disorder, so diagnosis is very important (which I realize is not always possible, because these disorders are often progressive, but I think it should be a goal).

4) What tests do you use to assess the aorta?
Why this is important: There are 4 tests you can use to check the aorta: An echocardiogram, a TEE, an MRI, or a CT scan. An x-ray, ECG, and EKG will NOT work. The NMF recommends using whichever one of those first four that can most expertly be done. If you have a knowledgeable echo tech, there shouldn’t much difference between the reading on the echo and the reading on an MRI or CT (I’m not very familiar with a TEE, so I’m not going to speak on those). An echo will show valve leakage better than an MRI or CT. Echoes are cheaper as well. I get an echo every year and an MRI every few years. If your doctor insists on a CT, ask why, because they expose you to a LOT of radiation. I’ve had them in an emergency situation, but otherwise I try to avoid them at all costs. The aorta is measured every 3-12 months, depending on the rate of growth.

5) What measurements do you look for? How do you gage growth?
Why this is important: The echo tech needs to be taking pictures of the ENTIRE aorta. Some doctors mistakenly think the root is the only thing that matters, but this is not true. Patients with Marfan can dissect anywhere along the aorta at any time. They do not typically dissect in other blood vessels (though it happens sometimes), and if you have had a dissection outside of the aorta, discuss the possibility of Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome with your doctor. For your root, the tech should be taking the measurement at the sinuses of valsalva, not above it. You also need to have measurements of the arch, ascending, and descending aorta. Your cardiologist should plot these on the z-chart (which shows what constitutes normal aortic root size by age and body size). I suggest requesting your doctor plot your root score in front of you, so that you can see how close to being enlarged it is.

6) What other specialists do you recommend to continue with my diagnostic process?
Why this is important: A cardiologist cannot make the diagnosis alone. A geneticist should be involved to collect family history, as well as an orthopedist to look at skeletal criteria, particularly scoliosis, and an ophthalmologist to check the lenses and retina (using a slit lamp exam) and screen for early glaucoma and cataracts.

The National Marfan Foundation is a great resource and when looking for a doctor, you should definitely consult them. They keep a listing of self-identified Marfan clinics. While they don’t endorse the clinics, chances are the clinics are a better place to start when looking for a new doctor. They can also try to put you in contact with other Marfan patients in your area, who may in turn have doctors to recommend. To get this information, contact the NMF’s nurse, Amy Kaplan, at 1-800-8-MARFAN or akaplan@marfan.org.

The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.