August 2, 2012
by marfmom
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Dear Marfan

While I’m away at the National Marfan Foundation conference and vacation with my family, I will have a few guest posters from the Marfan community. Today you meet Katie, one of the fabulous teens I’ve worked with. She is mature and insightful beyond her years and I’m pleased to feature her writing here today.

My name is Katie and I’m a 19 year old blogger who has a genetic connective tissue disorder, likely Marfan Syndrome. The investigation into whether or not I had the disorder started when I was 4 years old and my local optometrist discovered that I had dislocated lenses. Fast forward 15 years and 7 surgeries later and here I am still learning from and coping with my disorder. Like everyone I have my bad days and good days. This particular piece was written on one of the bad ones, when the reality of my life and the many difficult aspects of Marfan Syndrome crept into the forefront of my mind.

Dear Marfan,

First thing’s first, I do not hate you. Sometimes I’d like to, for all of the people that you’ve taken from this world too soon, for all of the pain and heartache you so often cause. But, you are what has made me who I am today, and showed me strength that I never would’ve thought I had. So, I don’t hate you, but I am angry with you. I’m angry with you for trying so hard to make me hate my own body and for all of the things that you’ve taken away from me, all of the things that I’ve missed out on because of you. You were not supposed to be a part of my life. You were never part of the plan.

I’d like to ask you why you chose me, but in all honesty, that’s not as important to me anymore. I wouldn’t wish you on someone else instead. But I do wish that you didn’t make me feel like a ticking time bomb. I wish that I never had to think about things like aortic dissection and emergency heart surgery, that I didn’t feel the need to have my affairs in order, “just in case”. I wish I didn’t have to wonder if you’d cause any future child of mine suffering, or if I’d lose my own life in the attempt to have one.

I wish you hadn’t taken my sports and many of my friends, and replaced them with medications and doctor appointments. You’re constantly reminding me that no part of my body is safe from your consequences and that it’s only a matter of time before something else goes wrong. You hurt me, day in and day out, standing or sitting, year after year, from head to toe. Because of you I talk more often to doctors than I do to people my own age.

I had dreams before I knew you. Now, I’m afraid to get excited for the future because I know, eventually, you’ll get in the way of it. You always do. As soon as I let myself want something, you give me a reason why I can’t have it. You’ve given me a body that is always telling me “no”. No, you can’t play basketball anymore, no, you can’t have a job, no, you can’t get your heart rate up, no, you can’t lift that. No.

These are all of the reasons that I’m angry with you, these are all of the reasons that you scare me. And honestly, it feels good to get them off of my chest. But, you haven’t been all bad. You’ve given me a chance to have my blog and to talk to and meet people that I never would’ve otherwise known. You’ve taught me a lot about the important things in life, like telling those you love that you love them, as often as possible. You’ve showed me the ignorance and cruel judgment of some, but you’ve also showed me the uncompromising kindness of others. You’ve taught me to be compassionate, and not judge others by their looks, because you never know what they’ve struggled through.

I wish that I could know a future without you in it. I wish that you hadn’t changed everything so much. But most of all, I wish that my body belonged to me, not you.

I’ve been blogging for the past year and a half about what it’s like to live with a disorder like Marfan Syndrome. I was largely inspired to do so by Maya, and once I started there was no stopping. I find it’s been a much needed outlet in my life and has been instrumental in helping me make sense of and cope with the feelings that I carry in regards to my situation. You can find my blog at Connective Tissue Disorders: My Journey, feel free to drop by and leave your thoughts!

July 31, 2012
by marfmom
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See You Soon!

I’m headed the National Marfan Foundation conference! I won’t have Internet while I’m away, but I’ve pre-scheduled some guest posts while I’m gone. If you’ll be at the conference, please come say hello to me!

July 30, 2012
by marfmom
6 Comments

The Endoscopy

Last Monday Baby J had his first surgical procedure: an endoscopy to check for celiac disease and other potential causes of his GI problems. I had mixed emotions going into it. On one hand I was sad that he needed to have it done, but on the other hand I was grateful that his first procedure was such a small one and that he’s made it this far before needing anesthesia. By his age I already had 2 or 3 abdominal surgeries, and many of his little friends have already had major surgeries as well.

We were asked to arrive at the hospital an hour and a half before J’s scheduled time. J was not allowed to have food after midnight, breastmilk 4 hours before the procedure, and clear fluids 2 hours before. I was worried about all the downtime before the surgery, but we were kept pretty busy.

Almost immediately a nurse came to the waiting area to take us back to pre-op. Over the next hour we met with a physician’s assistant, the anesthesiologist, and at least one nurse. I repeated Baby J’s history to all of them, while he ran around the room. Everyone was very nice, but there was also a somewhat frustrating lack of knowledge about Marfan syndrome. Once I was asked if J needs any more echoes since his aorta is not enlarged (answer: YES!). My favorite was when the anesthesiologist said “Oh, so you just think he has Marfan because of family history,” to which I replied “No. We KNOW he has Marfan because of genetic testing.” I mean seriously. If I tell you he has Marfan syndrome, why assume that I actually meant something else? Too many med pros believe that Marfan syndrome can not be diagnosed at this young of an age and that’s just not true.

Anyway, rant over. About a half hour before game time I was given a syringe of versed to give J. I was pretty surprised that the nurse insisted I administer the medication. It started working within a few minutes and I had to make sure that J stayed sitting down in the crib so he didn’t hurt himself, as he was swaying around like a drunk.

Our GI came by, reviewed everything one last time with me, and then it was time to go. I was given scrubs to wear and accompanied J into the OR. I held his hand as they put him under using a mask. This was a little emotional for me. The nurse had prepared me for his jerking around, telling me that it was part of the medication and he wouldn’t remember it. Well, I DO remember it. When I had my ablation in ’03, I had some sort of reaction to the gas. My vision became a wall of yellow with black flecks and I panicked, worried that the doctor wouldn’t realize that I wasn’t unconscious. I clawed at my face and tried to scream, and then finally went to sleep. The whole process probably only took a few seconds but it felt like an eternity to me. So, while J’s nurse insisted his jerking would be involuntary movements, part of me could not help but worry that it was otherwise.

Once J was unconscious a nurse led me back into the waiting room. I had just enough time to grab a bite to eat at the cafeteria downstairs before he was out of the OR and the GI was meeting with me to go over findings. I spent about a half hour waiting for J to wake up and then he was SUPER cranky and only wanted to nurse for awhile. He did have trouble choking at the beginning…he was problems with penetration/aspiration anyway so I think being groggy from the anesthesia just made it worse. After about a half hour though, he was his perky old self! Although the post-op nurse told me he’d probably sleep all day, J was off and running as soon as we got home.

Since then, we’ve received the biopsy results and everything is normal. I’m relieved Baby J doesn’t have celiac disease but anxious to find out what is going on. Immunology appointment in about 3 weeks!