Preparing to visit a genetic clinic for initial diagnosis

If you want to be evaluated for Marfan Syndrome and/or other heritable connective tissue disorders, you will most likely need to visit a Marfan syndrome/Connective Tissue Disorders clinic. The National Marfan Foundation maintains a list of U.S. specialty clinics. Visit their "Finding the Right Doctor?" page to learn more and register to receive the list of clinics.

Once you know where to go, getting an appointment can be tricky. In some cases, it may be easier for your physician to call and request an appointment on your behalf than for you to do it yourself. Also, demand for these appointments can be very high, so you can expect to wait a few weeks or months between the date you make your appointment and the date you actually have your appointment. For example, the Johns Hopkins University Genetic Medicine clinic is open only on Mondays and Tuesdays (see Locations and Directions), and wait times can be as long as 4 or 5 months.

Once you have an appointment, preparing for your first visit to a genetic medicine clinic can seem overwhelming... how many records do you need to bring? For how many family members? What will the appointment involve? How long will it take?

Deciding which records to bring

Marfan primarily affects the eyes, heart, ribcage/chest, spine, and joints. You may wish to bring reports and/or films (from MRIs, x-rays, etc.) that summarize or show problems you have experienced in these areas. Strive to keep the pile small. Hospitals can be very large places to get around in, and you don't want to be carrying a wheelbarrow full of files with you all day long. If you are unsure about what to bring, your primary care physician may be able to help you decide.

Preparing your personal and family medical history

Your personal medical history

To get the most out of your appointment, prepare a personal medical history that summarizes your significant illnesses, injuries, and surgeries and other hospitalizations, with dates. You probably already have something like this prepared, because it's the kind of information you need to provide every time you visit a new physician and fill out their endless piles of paperwork. If you don't have something like this prepared, you may want to request copies of your medical records and use them to pinpoint dates and medical conditions. Your primary care physician may also be able to help you compile a concise, accurate personal medical history.

Bringing a written/typed version of your personal medical history to your appointment at the genetic clinic will help you get through the day. Meeting with physicians can be overwhelming... you may need to refer to your list to make sure you are giving the physicians the right information.

Also bring a list of your current medications (including over-the-counter and herbal remedies), and the names and addresses of all physicians you want to have receive a summary of your Marfan evaluation.

Your family medical history

Typically, you will need to tell your doctors about the significant medical issues that have occurred through three generations of your family (i.e., the medical issues of you and your siblings, your parents, your aunts and uncles (and their kids), and your grandparents). And yes, this means you need to go out and ask your siblings, parents, aunts and uncles, etc. to tell you about their health problems, especially those relating to the eyes, heart, and skeleton. Not all relatives will want to give you this kind of information, so start gradually... ask your parents to tell you about your grandparents' health, your sister to tell you about your estranged mom's health, etc. Be brave and determined! Attempt to assemble as complete a family medical history as you can without starting a family feud. Marfan Syndrome is inherited in an autosomal dominant manner, which means there may be signs of Marfan throughout numerous generations of your family tree. This information will help your physician pinpoint your diagnosis.

There are several online tools for compiling a family medical history. Visit Family Medical History Resources, from Genome.gov for more information, or check out these links:

• My Family Health Portrait online tool, from the U.S. Surgeon General's office
• Does It Run in the Family?: A Guide to Family Health History from Genetic Alliance and its partners

What to expect during your appointment

Many Marfan clinics are located at major university hospitals. Plan to spend at least a half-day at the clinic or hospital. Bring money to pay for parking (if necessary), and be sure to arrive early (so you have time to get lost, take a shuttle from a remote parking lot, etc.).

If you are being evaluated at the Genetic Medicine clinic at Johns Hopkins University, expect to begin your appointment in the Pediatric Cardiology department. If you are an adult being evaluated, you may feel a little strange checking into a pediatric unit. Hang in there--it's more fun than visiting a medical office that only sees adults.

The first part of your appointment will be an echocardiogram to check the size of your aortic root and look for other heart problems associated with connective tissue disorders like Marfan Syndrome. Expect to spend about an hour on this portion of your day.

A few hours later, you will most likely meet with a genetic counselor and one or more physicians. The genetic counselor will review your personal and family medical history and prepare a summary for the physician. Then, the physician (an MD, often from internal medicine, cardiology, or orthopedics) will review your personal and family medical history, clarifying anything confusing or of particular interest. Then, the physician will conduct a full-body external exam to look for the signs and symptoms associated with Marfan Syndrome. The doctor will also probably get out a measuring tape and take various measurements of your body, including the ratio of your armspan to your height, the degree at which your elbows bend, and the ratio of your upper body length to lower body length. The upper/lower body measurement is not for the shy... the physician will for one brief moment place a tape measure in the pubic region.

After the exam, the physician and genetic counselor will sit with you and discuss their findings (including the results of your echocardiogram) and recommendations for follow-up. You may not leave with an "official" diagnosis... the doctor may ask you to get additional testing or exams done before telling you that you qualify as having Marfan Syndrome.

Expect to spend 1 to 2 hours total with the genetic counselor and physician.