Musings of a Marfan Mom

Sarah’s Story


Sarah is a reader turned friend I’ve been corresponding with via email for months. I really appreciate her insightful comments and was delighted when she agreed to guest post here.

Marfan first entered my family’s vocabulary when I was three months old, and it had just killed my father.

Our understanding of it grew as I did, through my misshapen bones and the failed childhood surgeries to repair them, through the genetic screenings and loose joints and floppy heart valves, through my teenage denial and eventual acceptance of a part of me to be neither loved nor loathed.

My truce with Marfan lasted until the eve of my 30th birthday, when my biological clock became a time bomb. I both ached for a child and feared losing it to Marfan like I’d lost my father. I simply couldn’t take that chance.

Geneticists offered few options. I could get pregnant and then use my family’s mapped mutation to test the baby before birth. But my soul would not have survived extinguishing a life whose only wrong was to be too much like me.

I could adopt. I knew many families joined by love and not blood. But I desperately wanted the joy of creating a life, of being pregnant and giving birth to a child no one could question was my own.

The only road left was to use fertility treatments and genetic screenings to ensure any baby I became pregnant with would not have Marfan.

For weeks I ingested, inhaled and injected myself with hormones, slowly losing my grip on reality as the pharmaceuticals took control. However, luck was with us. We fertilized 20 eggs, creating a veritable army of future infants to fill my empty arms.

At three days old, a single cell from each of my would-be babies was shipped from my home in western Canada to Detroit Michigan to be tested. The results took my breath away.

Fourteen of my embryos had Marfan. Another four were weak and likely not to survive. I had just two healthy embryos to create my family. TWO. And there was no guarantee if we froze one of these embryos for later that he or she would make it.

So we did the only thing we felt we could. We put all our eggs in one basket and held our breath.

Six weeks later I was staring at an ultrasound of my babies – both of them.

Overjoyed to be pregnant, it took mere seconds to realize that my high-risk pregnancy had just become doubly complicated. I’d aimed to be one of a handful of Marf-mom’s to give birth in my city. I was now the only expecting twin Marf-mom in my zip-code.

Undaunted, I marshalled my medical troops. A high-risk obstetrician was enlisted and my cardiology team supplemented with a trio of physicians who would monitor my blood pressure, joints and skeleton monthly. Even my Marf-specialist eye doctor was brought in to consult on how labour could affect my retinas.

Desperate for information I surfed the web, stumbling on this Marf Mom blog and taking solace in all the guest postings of women who had their own families. For as my waistline expanded, so did my dread. Something felt wrong.

Exhaustion plagued me every second of the day. Soon staircases were too much for me, and a simple walk in from the parking lot felt like a marathon.

Twenty-five weeks into my pregnancy, my cervix disintegrated and I went into labour.

For 48 harrowing hours we tried everything to keep my twin boys inside me. But the time for bed rest and drugs was past. And this March, my sons came into this world three and a half months too soon.

Baby W was born weighing 1 pound 11 ounces. His brother Baby D arrived one minute later weighing 1 pound 15 ounces. They couldn’t breathe on their own, eat on their own and their eyes were fused shut like kittens. They were rushed to incubators, too fragile to even be held up to my face for a few seconds before heading to the NICU.

I felt broken. Betrayed by my body, my boys were clinging to life inside an artificial womb instead of in me.

In the following days, I watched my eldest undergo heart surgery and my youngest fight off a deadly infection. They would both be pumped full of countless drug and blood transfusions. But my miniature men seemed as hell bent on being part of this family as I’d been to make them. They fought.

Everything came slowly for us. I held my firstborn for the first time when he was seven days old, fed the twins for the first time at eight weeks old and waited 102 days before I could have both my boys come home from hospital. But they did come home.

There are plenty of challenges ahead for us. At nearly nine months old, my twins may be nearly 20 pounds each but they are still trying to come off oxygen supports. And with compromised immune systems they must be kept isolated for fear that a simple cold could devastate their fragile lungs. But with each day they grow stronger. And with all their antics, giggles and cuddles it is easy to forget how close we came to losing them.

Lately, caught up in the whirl of diapers and feedings and bouncing baby boys, I’ve forgotten all about Marfan. Because when my twins were born they brought a new phrase into our vocabulary – micro-preemie — and we will learn what that means as they grow up, just like I did.

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  1. Thanks for a beautiful post, Sarah. I’m linking to it from my blog, which deals with PGD and other topics related to disability, reproductive ethics, and genetic screening. Beautiful little boys!


  2. Beautiful story and beautifully written… God Bless You All….


  3. Great post, Sarah! We are currently expecting our first baby through PGD and had a similar experience. We went from 25 eggs to 16 embryos to 10 being tested and only 3 that didn’t have Marfan. We didn’t want to risk multiples and implanted one – the other two didn’t develop enough to be frozen.

    It’s disappointing knowing we’ll have to go through the entire PGD process again when we are ready to have a second, but for now we are focusing on the little miracle we have right now. Congrats on your two beautiful boys- they are miracles too!


  4. Sarah, thank you for sharing your story. I am in the same boat you were in not too long ago. My biological clock is ticking and my husband and I go back and forth between “risking it” or IVF and genetic testing. Best wishes to you and your beautiful boys.


    Sarah Reply:

    Thank you all for the lovely comments. I know that others are in the same boat which is why I turned to this blog in the first place. There are no easy answers to this sort of thing. We are not medical ethics classes, we are living beings and my heart goes out to any one else faced with the same sort of questions. We did what we felt was best at the time. Is it the right answer? Who knows. I’m not going to regret it because I have two adorable babies right now. But I know what we did is not the right answer for someone else’s family. Still, it is definitely worth thinking and talking about. Good luck to anyone else starting a family with Marfan, however you choose to do it.


  5. What an amazing story! Thank you for sharing it! I learned about Marfans disease when I was young and a doctor thought I had it.

    Your boys are so adorable!! Best wishes and love to your family!


  6. Thanks Sarah for sharing your story! I too delivered my daughter early at 31 wks. It’s very scary to be in that situation. When I first found out I was pregnant, a cardiologist (not my regular doctor) mentioned that I might possibly need to abort depending on the size of my aorta. I was absolutely devistated. Luckily my aorta was 3.6 and he thought I’d be fine. I delivered early due to pre eclampsia and low amniotic fluid. My daughter spent 7 weeks in the NICU and is doing great now at 14 months old. I feel so blessed to have her and couldn’t imagine my life without her.


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