Thursday, January 5, 2012

The Journey Begins

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!


  1. Good to see you're doing this! Hey - is there something you can make as part of the profile that briefly explains Marfans? (So that as you post more, the definition doesn't disappear?)

  2. Good Idea, Pam. I need to also add a quick intro to the "characters".

  3. I think Nate is having Simple Partial Seizures that started a month after his surgery (6 years ago), the same one your hubby had. We want to look into getting him on an anti-seizure med to see if that works. My son Sebastian is 3 now and we just got him SMO's. He is adapting pretty well, but it takes me an extra 10 minutes to get them on sometimes, and I find myself wanting to throw them across the room! I hope they help. His pronation is terrible, and his hammer toes are worsening. His wandering eye is also getting worse. Last year they didn't want to do anything about it, but I might push for a patch or surgery this year. We'll see. I think he's going to be a complicated one, much like his daddy. The verdict is still out on Brooklyn (7 mo.) but we haven't done genetic testing, so we'll see. Did you ever read that article, something about "I was supposed to go to Italy." I think it's called "Welcome to Holland." I read it whenever I'm feeling overwhelmed, angry, or alone. For the most part, we handle it well, but I know it will be harder when the kids go to school. Nate will also be going back to the Mayo soon for a surgery for the hernia that developed after a different hernia surgery. I tell ya, it's never-ending! But I'm so glad you're doing this blog. I've started a book, kinda, but I'm not sure where to go with it. People always seem so amazed and interested about what has happened to us and they tell me to write about it, but for me, it doesn't seem interesting at all, so I'm not sure which approach to take. Meh. ;) Stay in touch, chica. We're experiencing a lot of the same struggles!

    1. If it helps, E's been seizure free since June when we got the anti-seizure meds dosage right (he started taking meds in March, but it took a little adjusting to get him on the right dose.) As far as the SMO's go, I can't tell you how many times I have wanted to throw them across the room or just say forget it, especially when running late or fighting an uncooperative kid, but it does get easier with time. I can do both kids now in less than five minutes. And as a positive, which I might write about later, I have a plastic imprint of L's foot size since she was 18 months old. It's hard to remember her ever being that tiny when I look at her first SMOs. I definitely see a difference in the kids flexibility with them wearing them, and their joints aren't pronating as much with them on. For us, I don't know that it will ever permanently fix the problem, but even if it minimizes joint pain in the hips and such it will be worth it. And I love the "Welcome to Holland" Poem! I first saw it on another Marf Mom's blog, and it definitely rings true. Just wondering...have you had Brooklyn's heart checked out yet? Hopefully she doesn't have it, but I know L had dilation before we ever noticed any outward signs. She might have gone untreated much longer had we not known of the family history and pushed to get her checked out. I definitely think you should write a book too! I think people will find the story fascinating, and it also could help other marfan families. So exciting! Definitely I'll stay in touch (I owe you an email :) There is definite comfort in knowing there are other people out there going through this stuff, and that we aren't alone (although that said, I wouldn't wish this on anyone!)