Diagnosis

TRUTH: Marfan can be tricky to spot. Not all patients have all telltale signs of the disease. It may require multiple tests by few doctors, and may not complete in one or two consultation sessions.

MYTH: All doctors understand Marfan and know how to look out for potential Marfan patients / symptoms. 

TRUTH: Generally, Doctors (General Practice GP, Pediatrician, Emergency Room ER) have only surface knowledge on Marfan Syndrome. Even some specialists miss the signs. 

TIP: Experienced doctor with genetic training may be able to speed up this process significantly. Advocate for the patient, research credible resources on the disease, get a second opinon when in doubt.

Genetic test

TRUTH: Marfan Syndrome is a genetic disorder and genetic testing can reveal genetic changes associated to the disease.

MYTH: All genetic testing and reporting are created equal. 

TRUTH: Genetic findings depend on few factors including, number of test cycles, quality of comparison data, experience of geneticists to interpret the results. Test provider A may not yield the same result as Test Provider B.

 
TIP: Primary way of diagnosing the disease is with physical exam and family history using a criteria system (Ghent classification). Genetic test can be useful, but only in certain conditions. Please discuss with your doctor if this is suitable.

For more info, see our subpage on Genetic Test Reports here.

Organs: Order of Priority

TRUTH: Marfan Syndrome can and usually affects multiple organs. Here is a list from marfan.org to read up on. There should be sequence by priority on what to tackle first.

MYTH: Children and adults should be treated alike. 

TRUTH: Children bodies sizes are growing, adult bodies have stopped.  E.g. Bones are still lengthening and increasing in size for children, and therefore should be higher in the priority list to tackle for children compare to adults. 

TIP: For more info, see our subpage on Organ Priority here.

Foods and Excercise

TRUTH: Marfan affects tissue elesticity strength and quality in the various organs. For more understanding about how Marfan affects the body tissue, see our subpage on Marfan elasticity here.

MYTH: More nutrition and body building exercise can improve tissue strength.

TRUTH: The effects of more nutrition e.g. high protein, high collagen may be limited. Marfan bodies already have different "recipe" of building tissue, adding more high quality fuel to a different recipe would not produce the intended outcome. While this cannot be fully quantified or measured, do take note of this before considering diet changes.

Exercises like body building and cardio are meant to stress the body's muscles or cardio and respiratory, then rest to recover, and then exercise again at a stronger level. The level where the body can safely do this is expected to be lower for Marfan patients. What may happen is the muscle takes much longer to recover from soreness, or the lungs might experience a tear etc. 

TIP: Moderate or controlled movement exercise is recommended for Marfan patients. Physio therapy is a good choice too. For more info on physical activity guidelines, see the Marfan.Org page here.

Treatment

Surgery

Heart

Lungs

Hernia

Insurance

TRUTH: Marfan may affect multiple organs and require costly diagnosis, monitoring and treatment.

MYTH: Health and hospitalization insurance will have coverage for the costs. 

TRUTH: Marfan is categorized as a congenital condition, which is excluded from most insurance coverage in Malaysia. 

TIP: There are specialized insurance products coming up e.g. this one from Cura Insurance. Here's hoping that similar product will make its way to Malaysia.
TIP: Also take note if your child is in a government school, you may request a letter from school office to get a waiver for medical costs from government hospital/clinic charges. 

Living with Marfan

Preschool / Schooling

TRUTH: Because of the physical differences in Marfan patients, extra care should be arranged for students.

MYTH: Sharing verbally over a short conversation with teachers/school will suffice.

TRUTH: Non Marfan people have very tough time to visualize or understand what Marfan patients need. Many young kids will also join their peers for activities due to peer pressure, whether or not their body can handle the activity well or not.

Some children have some vision issues, so request to sit near the front of class if possible.

Some children have to wear body brace, and may need help from teachers to wear/remove it throughout the school day.

TIP: Discuss with your doctor/clinic to prepare a letter for the school, especially to explain what activities to be avoided. Top of the list would be contact sports e.g. basketball, netball and strenuous exercise like cross country run (rentas desa). Try to have a short conversation with homeroom and physical education teacher each year to explain with the letter.  

Puberty

Coming soon!

Family Planning

TRUTH: Children of a Marfan patient have a chance of inheriting Marfan.

MYTH: If one of the parent doesn't have Marfan, the children will be fine.

TRUTH: Marfan is autosomal dominant i.e. chance of inheritance if one parent has Marfan is 50%. Having children is a deeply personal decision, do be aware of this inheritance possibility.

TIP: You may be interested in some genetic fertility services. For more info, see one of our Stories here.