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Mama Kat’s prompt: “The ache for home lives in all of us, the safe place where we can go as we are and not be questioned” ~ Maya Angelou

I have a few different homes. I have the home I live in with my husband and our son and cat. I have my extended family home. The group of girls I grew up with. The congregation I attended from age 11 until I got married at 22. A group of my Alpha Phi Omega (co-ed) fraternity brothers.

The home I’m going to write about, however, is the one I ached for before I even knew it existed: my Marfan home, otherwise known as conference.

All teenagers, on some level, want to be accepted. It’s a time that we simultaneously scream, “I am my own person!” and “Love me, I’m one of you!” So, being a teenager is difficult enough without adding in a chronic illness that affects both your appearance and physical abilities. As I entered into those tumultuous years, I yearned for the company of other people like me.

While some may disagree with me, I don’t believe that an “unaffected” parent or friend, no matter how attentive they are, can really, truly understand life with Marfan. I had great friends and my parents tried to help me sort out this new, different life, but it wasn’t enough.

Attending conference was life changing because for the first time in my life I was completely and utterly accepted. In some ways it was more Home to me than anywhere else I’ve been. That feeling got me through a lot of hard times.

We were pretty hot back then!


Now that I’m one of the people in charge of the teen program at conference, that feeling of home is first and foremost in my mind. I want each and every teen to know that they are that they are amongst family and that they are safe. They are Home.

This is one subject where I don’t think words can adequately describe the emotions associated. My Marfamily is almost sacred to me. So, I’m reposting this video I made of conference. Enjoy.

Conference video

And to any of my readers who have Marfan or are parents of a child/teen with Marfan: Come. If you’ve ever felt that ache for the “safe place where we can go as we are and not be questioned,” come. You’ll find the home you maybe didn’t quite realize you were missing.

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The Situation

Well, the votes are in. They came from the blog, from Twitter, from Facebook, and emails. The Situation it is (by far).

I think he rocks it, don’t you?

And no, I was not responsible for this awesome picture. Credit goes to April, aka Kethaera. Check out her artwork! She’s awesome.

Honorable mention for a brace name goes to Kristi, aka Tweeting Mama, who suggested Beckham (as in David), with inspiration from the movie Bend it Like Beckham (which, incidentally, stars one of my favorite actresses, Parminder Nagra). While I can’t bend while in the brace, he is bending my back into a straight shape (with any luck!).

Enjoy this picture of The Situation car surfing in Berkley.

Don’t forget to enter the Have a Heart giveaway!!!

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Losartan vs Atenolol Trial

Those of you in the Marfan community have probably heard about the losartan vs. atenolol trial, but since it’s Have a Heart Month I wanted to talk a little bit about it and give space for a trial participant to discuss it as well.

Background: Atenolol is a beta-blocker, and right now beta-blockers are the standard of care for Marfan patients medication-wise. As of now, there is no way to stop the aorta from growing, but researchers have found that decreasing the body’s blood pressure tends to help slow down the aortic growth. Beta-blockers like atenolol lower the blood pressure, which is why they’re used. However, there has never been a wide-scale, double blind trial done to prove that beta-blockers are, in fact, an effective option.

Without getting too technical, several years ago Dr. Hal Dietz from Johns Hopkins created mice with Marfan syndrome and tested the drug losartan (cozaar) on them. Losartan is a blood pressure medication (an angiotension receptor blockers) that has been on the market for a long time. Dietz realized that it affected a protein called TGF-B, which is over-expressed in Marfan (leading to the overgrowth of several structures in our bodies, like our bones). Dietz theorized that using losartan to curb the expression of TGF-B might prevent various complications from Marfan, especially the overgrowth of the aorta.

In 2006, Dr. Dietz unveiled the results of his mice trials at the National Marfan Foundation conference in Philadelphia. Losartan had kept the aortas at a normal size! It was now time to test the drug on humans, to see if it would produce the same results.

Now: The trial has been going for 3 years now; the first round of participants is finishing up. However, the trial is still 104 patients short of the 604 it needs. Enrollment ends Jan. 31st, 2011. The requirements for trial enrollment are:
– Be between the ages of 6 months and 25 years at the time you enroll
– Have a diagnosis of Marfan
– Not be pregnant
– Not have had any previous aortic surgery
– Not have any serious side effects from either atenolol or losartan
– Not need to take a beta blocker for any reason other than your dilated aorta
– Be willing and able to travel 5 times over 3 years to the study site for all study echocardiograms and examinations.

Financial assistance IS available to go to ANY trial site you want (not just the one closest to you). Go here for more information about the trial. You can also contact Jennifer Buffone at the NMF at jbuffone at marfan dot org.

Kari’s Story: Kari is a fellow NMF volunteer. Her daughter, Haley, has Marfan and is preparing to finish up with her time in the trial. I asked Kari to write a bit about their family’s experience.

After a great deal of soul searching, we decided to enroll Haley in the Losartan/Atenolol clinical trial three years ago. While we were tempted to go to her local cardiologist and ask him to place our daughter on Losartan, we felt it was important to learn how well the drug works and whether it has troubling side affects first. We agreed that the clinical trial was the best way to determine whether or not this was another effective treatment for those with Marfan syndrome.

We felt comfortable enrolling Haley in the trial when we discovered how thoroughly the patients would be monitored throughout the study. Everyone from the lab and imaging techs, to the clinic coordinator and cardiologist, truly cares about the well being of our daughter. You would never guess that Haley isn’t one of their regular Marfan patients. She is treated as a person, not a number, with professionalism and compassion. In addiiton, the staff always takes the time to answer our questions, address our concerns, and promptly answer our e-mails.

We also are impressed with how welcome and comfortable they make Haley feel at each and every appointment. She enjoys our trips to the Marfan clinic and I know she’ll miss seeing her other “Marfan doctor” after her final appointment this June.

Our appointments have always started on time and they traditionally last under two hours (including an echocardiogram). The clinic coordinator also checks in with us between appointments to make sure everything is going okay with Haley. As a parent, I appreciate that. (We have also maintained our annual appointments with Haley’s local cardiologist throughout this process.)

We do not regret our decision to enroll Haley in the trial one bit and are so excited that the trial has finally reached 500 participants! However, we desperately need 104 more enrollees before they can start analyzing the data. I encourage all parents of children with Marfan syndrome to thoughtfully consider enrolling their children in the trial. They will receive top-notch care at some of the best facilities in the world. (In addition, if your child did not fully meet the trial requirements 1-2 years ago, I recommend getting them re-checked, since children tend to grow “in and out” of the Marfan diagnosis.)

Our family is so grateful for all of the incredible research that has transpired since Haley’s diagnosis. The promising research of Losartan and its affect on Marfan mice has brought a renewed sense of hope to the Marfan community. This clinical trial will help us determine whether or not this hope should indeed become a reality.

PLEASE, if you or your child is eligible, consider enrolling in the trial. Your participation can help change the future for Marfs all over the world.

Also, don’t forget to enter the Have a Heart Month giveaway.

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Have a Heart Giveaway!!!

February is Have a Heart Month, to raise awareness for Marfan syndrome. 1 in 5,000 people have Marfan or a related disorder, but only about HALF of those know they have it. Since, with proper treatment, people with Marfan can live to a normal life expectancy, it’s imperative to get the word out about Marfan and its symptoms.

I’m excited to be able to host a giveaway in honor of Have a Heart Month! Larie Beck is a mother to a child with Marfan syndrome and we met several years ago via an online chat. Besides being a homeschooling mother to two and an active NMF volunteer, Larie makes beautiful jewelry!

Larie has created the Have Heart necklace specifically for this giveaway. This one of a kind necklace features 3 hammered, silver hearts dangling from a silver chain. It is accented with fire polished, red crystal beads, red glass heart and seed beads. It measures 11.5 inches from the clasp to the tip of the dangling hearts and is finished off with a magnetic clasp. (length can be shortened before shipping if the winner requests).


There are 3 ways to enter this giveaway, which is available to US residents and runs through Feb. 21st.

1) Visit Larie’s Etsy shop and comment with one other item that you love.
2) Visit the National Marfan Foundation’s website and comment with one thing you learned about Marfan.
3) Tweet about this giveaway (just once) and leave me a link to your tweet.

You MUST leave a separate comment for each entry. The giveaway ends at 11 pm PST on Sun. Feb. 21st. A winner will be selected using a random number generator. Make sure you leave a valid email address so I can contact you. The winner will have 48 hours to respond, at which point I will choose a new winner.

Also, Larie is donating a portion of the proceeds (up to 100% for some pieces!) for each heart piece sold during the month of Feb. to the NMF.

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Exercise with Marfan

It might surprise you, but exercise is really important to Marfan patients. Because we’re limited in our activities, it’s even more vital that we do what we can to stay heart-healthy. The information I’m providing has come from what I’ve been told by my doctors and what I’ve learned from the National Marfan Foundation’s website and annual conference. Any other sources are cited. To an extent, what activities are appropriate for someone with Marfan vary on an individual basis. By all means discuss any questions you have with your doctor and have real discussions about it, but remember what is ok for me might not be ok for you and vice versa.

Marfan does bring about some universal restrictions.

1) Contact sports should be avoided because of the risk of jostling the aorta and the head (which could cause lens and retinal problems). These include football, rugby, and even basketball (which carries the additional risk to the aorta of frequently stopping suddenly).
2) Isometric exercises, where you are holding your breath and straining, are quite taxing on the aorta. These include weight lifting, crunches, push-ups, and some forms of Pilates.
3) Any activity that taxes you to the point of exhaustion. There are two ways to define this. Marfs on beta blockers (atenolol, toprol) should keep their heart rates at 100 beats per minute or below; those not on beta blockers (like Losartan or verapimil) should keep below 120 bpm. The second way of knowing if you’re working too hard is to see whether you can keep up a conversation while doing the activity. If you’re too out of breath to get out a string of words, you’re probably working too hard.
4) Other questionable activities include roller coasters (risk to the eyes), rifle shooting (risk to the heart/aorta), volleyball (contact), and soccer (all of the above).

However, as I said before, there’s definitely variability. For example, soccer for 5 year olds is very different from soccer for 14 year olds. A patient without current aortic complications may have a little more leeway than a patient prepping for aortic surgery (keeping in mind, of course, that aortic complications may very well develop from repeatedly engaging in risky activities).

So, now that we’ve covered the “do-nots,” what about the “usually oks?” A variety of sports, when done in a mild to moderate manner, can be great. I swam in high school. Being in the water eliminated painful impacts on my joints and I found I was a natural at the breaststroke due to my long, hypermobile legs. I swam on the team, with heavily modified practices. I know a teen who was one of the top 25 youth archers in the country at one point. Tennis and golf can also be ok. Dr. Dietz said that even paintball can be alright, with the proper chest and eye safety equipment. The benefit of physical activities to our self-esteem cannot be overlooked!

As patients with a life-threatening illness, we have to measure the quality of our lives with the quantity of our lives. If your doctor wants you to give up something you love, don’t be afraid to have a frank talk with her. Maybe you can reach a compromise, like modified practices, or echoes every six months instead of every year. And if you can’t reach a compromise, and the activity really isn’t safe, at least you’ll know why and feel like you’ve been heard, whatever comfort that is. I hated giving up horseback riding and basketball, but I developed a love of writing and eventually came across swimming, two activities I might not have found otherwise.

Now, last week reader Erin asked me how I exercise, between the doctor-imposed restrictions and the restrictions of my own body, not to mention the time constraints associated with being a mom. I’ve written before about my chronic pain and the trouble I have breathing, due to my heart not processing oxygen quite right, and these have gradually gotten in the way of my ability to exercise.

But here’s the thing. I think that we need to be easy on ourselves and realize the best we can do is better than not doing anything. Right now, I’m doing physical therapy instead of going to the gym. I go to the hospital for this twice a week. Sure, it’s doesn’t necessarily get my heart pumping all the time (sometimes it does!) but it’s what I can do today. Eventually, it will help lessen my pain so I have the energy for other things. My therapist has done research to help me adapt the exercises to be non-isometric. On days I don’t have PT, I take the Menininho for a walk around our apartment complex or the local mall or, if he lets me, I do 20-30 minutes of the stationary bike at the apartment “gym.”

Beyond that, I schedule everything. I have my little icalendar on this laptop and I’m lost without it. Every doctor appointment, playgroup event, church meeting, phone conference, and errand gets recorded so that I don’t overextend myself. If I have a busy string of days, I take a day off as pajama day and the baby and I lounge around in our jammies all day long and read books and watch bad TV (well, I do, not him). It’s a system that’s worked out pretty well, as my pain flairs up when I’m overtired.

How do all of you (especially those of you with chronic illness) fit in the time to stay fit?

The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.

Citations:
Judge, D.P., and Dietz, H.C. (2008). Therapy of Marfan Syndrome. Annual Review of Medicine, 59: 43-59.

Ammash, N.M., Sundt, T.M., and Connolly, H.M. (2007). Marfan Syndrome – Diagnosis and Management. Current Problems in Cardiology, 33: 7-39.

Raanani, E. and Ghosh, P. (2008). The Multidisciplinary Approach to the Marfan Patient. IMAJ, 10: 171-174.

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New Back Brace

It took 3 years, but I finally convinced my orthopedist to order me a custom back brace. I have a rare type of scoliosis, very flexible with a teenage onset and that continues to progress even as an adult. My specialist at Hopkins suggested bracing me 3 years ago to see if that had an affect on the progression, but my local docs always insisted on an off-the-shelf, one-size-fits-all corset brace. News flash: Men don’t have hips, but some women do and a brace that doesn’t flair at the hips isn’t going to fit such a woman. (You’d be surprised at how often [male] doctors tried to convince me that male and female bodies are actually the same.) Since these braces invariably slid off my hips and up my chest every day, I quit wearing them and my scoliosis kept progressing.

Anyway, my local, politically incorrect ortho wrote me a Rx last month for my very own custom, plastic back brace. Have you ever had one made? It involves wearing a skin tight, t-shirt material halter dress, which might be sexy if 1) it wasn’t totally see-through and 2) I had my pre-baby body of 5 years ago. So now that I’m feeling a smidgen awkward, two people come in and start wrapping me in strips of fiberglass, like I’m a giant 5th grade papier-mâché project. They were really nice about it though (mostly just glad I wasn’t a squirmy 5 year old or unconscious, the latter of which apparently happens from time to time since they wrap you really tightly).

This is me without my brace (curve: 40 degrees):

This is me once I’m braced.
It goes over the tank top and under my shirt.

Added benefit of the brace? “You won’t be able to eat those extra French-fries without loosening it up,” my doctor told me. He’s a winner, that one.

Now, I have a habit of naming things, and I think this brace needs a name. It also needs to be a masculine name because, as my friend Danielle put it, “He’ll be squeezing you tight and with you more than a stalker! He’s always got your back, and, just like a man, he is helping you feel good in the long run, but sometimes gets in the way and doesn’t look flattering with your sexy, slinky dress.

Wonderful readers, I need your help choosing a name! So far all I can think of is Hugh (yum!) or The Situation (tell me you get the joke!). Please leave your suggestion for a name (or vote for one of those two) in the comments and I’ll choose a name in the next few days. I don’t really have any fancy prizes to offer, but if I choose your suggestion, I’ll link up to your blog if you’ve got one!

Below you’ll find some pictures of said super-sexy brace. He felt the need to show you just how awesome having a brace can be.



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Marfan Through a Husband’s Eyes

Today is the last installment of a three-part series: Marfan Through the Eyes of the “Unaffected.” You’ve read my story, but what about how Marfan has affected those around me?

Over New Years Mark, the baby, and I met one of my college girlfriends and her fiancée for lunch. This friend has chronic pain, worse than mine, and at one point during the meal gestured to her fiancée and remarked “Yah, I don’t even know why he’s marrying me!” Her fiancée pointed at Mark and said, “Well, he married her!”

And that got me thinking…why did Mark marry me? [I mean, besides love and all that jazz.] How did he/does he view Marfan that makes him want to stay, when it’s made other guys run away? And from there, I wondered about the effects on my other family members growing up. Aside from the medical bills (OH, those bills!), we never really discussed the impact my illness had on them.

You’ve heard from my mother and my brother. So, today I bring you my fantastic husband, Mark.

Mark and I met over 6 years ago, in college marching band, and were dating within 3 months. He was the very cutest trumpet player and leader of the band cheers. These days he’s an analog integrated circuit design engineer. In his spare time he enjoys building blocks with Menininho, experimenting in the kitchen, and playing Starcraft and TES4 Oblivion.
I always dated tall girls.

I mean, I was the shortest student my age all throughout elementary school, and the situation did not improve much in the following years. Pretty much everyone looked ‘tall’ to me. Nonetheless, I always dated tall girls.

Therefore, pictures of Maya and I from some of our early dates, when she would show up in high heels and stand, literally, head and shoulders above me, really do not seem all that unusual.

Homecoming 2005

I don’t remember when she first mentioned “Marfan Syndrome” (or, as I incorrectly called it for at least a year, “Marfan’s”), as it was never a game changer for me, just another data point. I certainly did my research, starting from Wikipedia. then going into greater detail, and reading up on resources from Johns Hopkins, The Mayo Clinic, and papers and publications by Hal Dietz. I wanted to be able to join dialogues between her and her doctors on an educated level, to be able to logically take and argue her side when a doctor brushed off an event, and to understand the many choices she made about her health.

We hadn’t been dating too long (well… 2.5 years?) when our first emergency room trip together occurred. While dancing at our university’s winter formal in downtown Cleveland, Maya began to experience a rapid and arrhythmic heartbeat, which was recorded by her Holter Monitor. Maya was engaged in an extended effort to convince her doctors that these arrhythmic episodes were something worth looking at, rather than just an example of running-up-the-stairs-too-fast; so even as I helped Maya recover, we hurried to a phone to send the results to the hospital computer. The on-call, however, gave us a surprise, saying that there was “something unusual” and told us to report right away to the Cleveland Clinic Emergency Room. Though nothing came out of the late-night-became-morning visit and we never quite learned what “something unusual” meant, the following five hours waiting, talking, and playing card games in a room at the ER turned out to be one of our most memorable and most enjoyable dates.
“Conference” was a term I had heard used with reverence by Maya ever since I first learned of Marfan syndrome. Supposedly, it was a veritable Mecca in more ways than one for the Marfs… “Someday, you’ll get to see it, Mark”. Years later, I was taken along to meet the Marfamily at the annual National Marfan Foundation Conference which was held, that year, in Boston. Unbeknownst to me, the great Marfamiliy honors marital affinity–I was now married into this family as much as any “in-law”. I was certainly an outsider to this network of camaraderie stronger than that forged between my lab-mates in the trenches of 6 AM graduate school meetings, but invited nonetheless. They danced, discussed, met, and mingled, and I saw Maya naturally slide into her role as leader, older sister, and sometimes even mother of the hundred-odd middle- to high-school aged kids gathered in the teen program.

But Marfan syndrome exists outside of the momentous occasions, as well.

Marfan syndrome’s activity restrictions have, over time, extended to the both of us in one way or another. We obviously do not hike winding trails and climb gorges like I did when I was younger, nor will long walks on the beach ever be a part of our repertoire. The opposite is true in other ways: As Maya has a limited ability to stand for long periods of time, I am on my feet from the moment I get home from work until well after the baby is asleep in bed.

Most unusual–to me, at least–is that Marfan syndrome seems to produce anger. I attended a support group for “unaffected spouses”, as they called us, at the Boston NMF Conference. The opinion there was fairly universal that the pain, limitations, and uncertainty of Marfan syndrome engendered a vague, undirected anger that seemed to creep into relationships. But, as has been mentioned by Maya’s mother and brother both, Maya began long ago and continues to take this anger and drive it, bit by bit, into her unending activism and defense of those persons and causes she takes under her wing.

We have had our share of scares from doctors, both from medical speculation (“I think she might not have Marfan Syndrome, but rather …. “), or right out misdiagnoses (“I think it’s a dissection! … oop. No it isn’t. Again.”), but they are events that we address as they come and pass as they go, rather than living in fear of them. When Maya’s geneticist speculated that she may have the life-threatening Vascular type of Ehlers-Danlos syndrome, I saw no reason why that should change the nature of our relationship. Maya and I approached the information with a similar stoicism, yet we still met the negative test results with a doubled sigh of relief.

It is because day to day life does not get to be put aside that we are able to continue; to get engaged in Washington DC, get married in Columbus, have a son, and begin to raise him in California.

Marfan syndrome makes every day harder than it could have been, but it is a part of who Maya is, through and through. And now, it is a part of me, too.

And I wouldn’t trade it for the world.

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