By Maya Brown-Zimmerman
Having a chronic illness doesn’t allow you the luxury of taking a lot for granted. Growing up, I had to give serious and early consideration to issues most of my peers never had to think about.
There was never a question in my mind whether or not I’d be a mother. Raising children was something I dearly wanted to do. The only question for me was how my future husband and I would go about establishing our family. Having Marfan syndrome meant two things for me: 1) any pregnancy would be high risk and 2) any children naturally conceived would have a 50% chance of also having Marfan.
When my husband, Mark, and I got engaged, we decided to examine all the options available for eventually growing our family.
First, I underwent genetic testing to determine my specific Marfan-causing mutation. It’s estimated that 90-95% of people with Marfan syndrome are able to find their mutation and, in most cases, the mutation is unique to their family. Luckily, my mutation was identified, which increased our options.
1) We could have a baby the old-fashioned way and take our 50/50 chance of having an affected child. I’m more mildly affected, but even though the baby would share my mutation, mutations are rarely predictive of severity and so s/he could be more severely affected than me. Because I knew my mutation, we could do prenatal testing to determine the baby’s diagnosis or test any time post-delivery.
2) Pre-implantation genetic diagnosis (PGD) is an option. This would entail using IVF and testing the embryos for my mutation prior to implanting one. PGD would almost completely reduce the chance of having a baby with Marfan syndrome, assuming that any of the embryos tested negative. It can be an expensive procedure, however, and is often not covered by insurance.
3) Surrogacy is another route, particularly for those women for whom pregnancy would be very unsafe. PGD can be done as well, or donor egg/sperm can be used, in order to reduce the risk of passing on Marfan syndrome.
4) Finally, there is adoption. Domestic or international, adoption both eliminates the health risks to a woman with Marfan and the risk of passing on Marfan syndrome to your child.
Mark and I deliberated at length the best course of action for us. There was one thing I felt sure of: I wanted to experience pregnancy if it was relatively safe for me to do so. Of course there are ethical implications, and we spent a long time discussing them. Would it be selfish to bring a child into the world who had a “less-than-perfect” parent? Would it be selfish to have a child who might inherit a potentially life-threatening genetic disorder?
On one hand, we worried about having a child with Marfan. Would he hate me for that? Would he be more affected than me? On the other hand, I know a great deal about Marfan syndrome and we could provide our child with access to knowledgeable doctors, the latest research, and a large community of people who have the syndrome too. All of those are things I didn’t have growing up. Also, I’m happy with the life I have. Although having Marfan has prevented me from doing some things, I’ve achieved quite a bit in spite of it, and actually, because of it. My life has been enriched by the people I’ve come to know as a result of being in the “Marfamily,” and even by the negative experiences I’ve had, like surgeries.
In the end, after consulting with my team of doctors, we decided that what was right for us was to conceive naturally and accept the risk of passing on the syndrome. Although having Marfan syndrome complicates my life and some days I wish I’d never heard of it, it has shaped who I am today. I feel like I have a great life and I hope to impart that attitude to my children.
We now have two beautiful sons, and hope to someday adopt a 3rd child. Our second son, Baby J, does have Marfan syndrome. And while his life has some unique challenges to it, he also has the benefit of being raised among a community of other people with Marfan who can show him just how sweet life can be. I’ve volunteered with the National Marfan Foundation in various capacities since I was a teenager, and the members of the Foundation have become a second family to me. Some of the teens I work with have already offered to serve as Marfan mentors for J as he gets older, and I know he will be in good hands.
I believe there’s no wrong way to create a family, and I’m grateful we live in a time where there are so many options.
Maya Brown-Zimmerman, MPH, is a patient advocate and volunteer with the National Marfan Foundation as a member of the board of directors and coordinator of the teen program. She also chronicles the ups and downs of parenting two sons with special needs while having a chronic illness herself at Musings of a Marfan Mom and the Sensory Processing Disorders Blogger Network.