Sunday, January 15, 2012

Passing It On....

Long before this blog existed, before I knew what marfan syndrome was, I was just a girl in college who met an interesting boy in college and started hanging out and emailing. It was in one of those emails, during our pre-dating friendship, that giraffedaddy first told me he had marfan syndrome. A few minutes with a search engine on the library's computers had me convinced my friend was going to die any minute of this terrible condition, and I was so scared and heartbroken. A phone call later with assurances that his case was nothing like what I had read had me calmed down and laughing at my overreaction. His case was nothing like what I had read, more a pseudo-marfan syndrome. Yes, his aorta was dilated- but only a little, and he didn't have any of those other things that I had read. Perhaps at the time it would have been wise of me to read a bit more of what I had seen on the web, to have done a bit more research on what he had, but I trusted what he'd been told by doctors all his life and never questioned what he told me. I knew he had a family history of this, but no one in his family had ever had any real complications due to marfan syndrome- no surgeries, no bracing, nothing to fear.
So that college girl and college boy dated, got engaged, got married, and got ready to start a family. Giraffedaddy was nervous about having kids, about the potential to pass this on (a 50/50 chance), but I was adamant it wasn't a big deal. What's to fear? I'm ashamed to admit I even told too many family members that if I had to choose between my kids having marfan syndrome or struggling with my weight issues, I'd pick marfan syndrome.  Based on what I knew then, it seemed like the easier choice to a girl who'd been teased for her weight all her life. And for me, having kids was a lifelong dream, and that included carrying them, so it didn't really seem like a choice to me, more like a need.
So after a long time of trying, and a visit to a fertility clinic we were finally waiting for the baby to arrive. Visits to the prenatal geneticist, level two ultrasounds, and then the big day arrived. I have no memories of Giraffeboys' birth, since I was knocked out for an emergency c-section, but I can distinctly remember the first time I saw him, how beautiful he was, and the magnitude of love I felt for him from the start. And one look at his long skinny body, his long skinny fingers and feet, and we knew without a doctors confirmation that we lost the gene lottery, and our boy would have marfan syndrome. And quite frankly, we didn't think it would be a big deal.
Fast forward two and a half years to the birth of giraffegirl. We always knew we'd have a second child, and there was no hesitation to get pregnant again. This time I was awake for the c-section. I remember the first glance I had of her, of thinking she looks so different from her brother, a rounder face and body. She was just as beautiful, I loved her just as much, but there was a relief in me that maybe she wouldn't have to deal with marfan syndrome. Eight months later, after a genetic test done as a precaution by our geneticist, who herself expected the test to be negative, we got the diagnosis that she too had inherited the gene. I grieved that day far more for her than for her brother, probably because I had falsely believed in her health for so long.
It was because the kids had marfan syndrome that we first went to a meeting of the Twin Cities marfan group. I thought it was important to learn more, to meet other parents, to find some support for our kids as they got older and dealt with some of the self-esteem issues that their father had faced because of his marfan syndrome. We walked in that first day and actually said our family had a pseudo-case, nothing to worry about. It's amazing they didn't laugh us out of the room that day. Because we got involved in the end of 2008, as the group was preparing to host the 2009 NMF National Conference at the Mayo, we got drawn in to the conference excitement and attended. It was at that conference, during the Saturday doctor's presentations, that info was distributed about what aortic dilation was needed for preventative surgery. A glance at his measurements from his last echo told us that giraffedaddy was already over that number, and led us to search out a different cardiologist who knew more about marfan syndrome, and who got us scheduled for giraffedaddy's heart surgery 5 months later.
So you could say having kids, passing on this gene, saved my husband's life, or at the very least made for a much less serious surgery. He never would have gone to that meeting if it wasn't for the kids, and we wouldn't have thought to go to conference, or possibly even known about it had we not been involved with the group. We would have gone on naively believing our family's case was mild, with nothing to really worry about. Fear not, we have long quit being those naive people. We now know every case of marfan syndrome is serious. Every person with it needs to have echos and yearly check-ups. We are thankful that so far the kids cases fall somewhere in the middle of the severity spectrum, with no huge concerns thus far, just small challenges. We pray daily for consistency, for no aorta growth, no serious complications. And we take things as they come.
I believe that God played a role in getting us to conference at that exact time, when giraffedaddy's aorta was quickly nearing a critical measurement. I don't think it was an accident or coincidence. Too many things fell into place for us to get there. From the scholarships from the NMF and our local chapter to cover costs, to the nearness of the location, a mere hours drive from our house so we could skip the hotel costs, so many things fell into place to make this work on our limited single-income budget. And I'm grateful everyday for the people we met, the information we learned, and the chance to proactively treat his aorta before a dissection could happen. I know were some of the lucky ones, and our story could easily have a different ending.

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