For years I've talked about starting a blog about my family, about the joys and challenges giraffedaddy and I face raising two kids with marfan syndrome while dealing with his health issues too. I've even considered what I would write, who would want to read it, and what was the pull to do this in blog form instead of a personal paper journal? The answer...I don't completely know. But then I had a particularly bad November. Giraffegirl had eye surgery, which was not completely successful. Giraffeboy got foot orthotics for the first time, and suddenly something as simple as boots and snowpants for a 7 year old that he could navigate himself over the orthotics became a gigantic obstacle to surmount. And mostly, I felt really alone in a sea of people with perfectly healthy kids. And then I read a entry from a blog that a friend posted on Facebook from the mother of an autistic boy. Her challenges were nothing like mine, her victories for her child were completely different, and yet the connection to her over raising "different" kids felt so tangible to me. You could say that was the final kick in the pants I needed to start this blog. If in the course of posting our experiences it helps even a single person feel less alone in the world, then it is worth my time. And if while doing so I can help educate even just my friends and family about marfan syndrome, and the things I don't generally talk about, then all the better.
It seems wrong to have a first post and not talk about what marfan syndrome is. Marfan syndrome is a genetic condition that affects about 1 in every 5000 people. It is a connective tissue disorder, and since every part of our body is made of connective tissue it's affect on a person can be widespread. The most dangerous possible symptom for someone with marfan syndrome is an enlarged aorta. Undiagnosed and unmonitored it can lead to an aortic dissection, and then death. To make it even more challenging to diagnose and treat, it affects every person differently, so that no two cases of marfan syndrome are exactly alike. In our family, the kids are more affected then giraffedaddy. Giraffedaddy had a dilated aorta, but had his ascending aorta replaced in February of 2010 at the Mayo Clinic (He was dilated to 4.6 cm when they did the surgery). He suffers from joint pain (especially the hip), and since surgery he has developed temporal lobe epilepsy (more on that a different day). He has pectus carinatum (his sternum protrudes out). He has no eye issues from his marfan syndrome. He has flat feet and hammer toes, typical things in affected people. Giraffeboy was diagnosed by us when he was born, but had this confirmed when he was 18 months old. His aorta is dilated, his lenses are dislocated, and he has incredibly flat feet and is losing flexibility in his heels. He recently started wearing orthotic AFO's to help increase his heel flexibility and to provide ankle support for proper joint placement. We are hoping this helps to minimize pain he may deal with as he gets older. Giraffegirl was our surprise case of this, as she seemed unaffected when she was born. She also has a dilated aorta.She has pectus excavatum (her sternum is sunken in). She has lazy eye, which she recently had surgery to help fix. Although her ability to pull her eyes back in from wandering has improved, her tendency to wander has not, so the surgery was not completely successful. She also has orthotics, but for her in the daytime she wears SMO's, one of which is trimmed down to the top of her shoe, and the other slightly higher. She has a special orthotic at night she must wear to increase flexibility in her left ankle, which goes up to her mid-thigh. She has had orthotics since before she could walk, and although she doesn't always wear them she has always had a version of them since about 18 months. She also has hammer toes. In addition to all of this she is our slow developer. Every childhood milestone she took her time with, and was the last of her friends to really walk, talk, etc. Although there is no positive proof connecting this to marfans, I share other parents belief that it is related to her condition.
And with these words, let this journey begin. I'm so excited to see where it takes me!