Tag Archives: doctor

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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An Open Letter to Medical Professionals

An Open Letter to Medical Professionals:

The physician/patient relationship is a complicated one. I realize this. And in the United States, there aren’t a lot of rules for decorum. So, because I like you (or at least some of you), I’m going to give you a few pointers today of things you probably shouldn’t say to patients.

For starters, you should never tell a patient of the opposite sex that s/he has a nice figure. That’s just icky. Then we start wondering how you’re imagining said figure. Along those lines, you shouldn’t be so bold as to say something like “WOW! You look so, SO much better when you’re straight!” to a person with scoliosis. I promise: the patient will begin to doubt your years of education. I’m pretty sure that most young children could identify the better-looking option. If that’s all your 8+ years at fancy schools taught you, we’re in trouble.

Never utter the phrase “Oh, I know just how you feel.” The one exception to this? If you are the patient’s long-lost identical twin, because we’ve all heard those Discovery Channel shows about the separated-at-birth-twins who led basically identical lives. In fact, if you are my long-lost twin, I’m liable to forgive your misguided attempt at empathy anyway.

And while there’s something to be said for a medical professional who gets excited by her job, as a patient it’s a little disconcerting to hear, “Yah, all of us were just in the back looking at your x-rays. We’ve never seen anything like it!” Sorry, it just doesn’t inspire confidence.

That said, patients usually don’t mind if you’re honest and tell us when you don’t know the answer. We’d rather you be up front then pretend to be an All Knowing Medical God, ‘cause we can totally see through that routine, even though we didn’t go to 8+ years of school for that.

Moral of the story? Use some common sense. And if you’re short on that, just give me a ring and I’ll tell you what to say. My rates are reasonable, I promise!

Best,
Maya, the Marfan Mom

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Marfan Through a Mother’s Eyes

Today starts 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.

So today, you’ll hear from my mother. Next Monday my brother is posting, and Mark will round out the series.

I’ve already written some about my mom, but as a quick intro, she’s a Brasilian immigrant, former dancer, and current PhD student. She raised three kids, four if you count my dad. And this is her story of my diagnosis.
There were a few things about 8 year old Maya that defined her: her love of everything having to do with horses, her skinny arms and legs, and her political activism (yes, even at age 8 she stood up for things, wrote editorials and kept an eye out for unfairness anywhere).

That my children were not athletic was not a surprise to me – after all, the apple does not fall far from the tree. However, Maya’s inability to do some of the most basic things (ride a bike, hit a ball, etc) began to cause me concern when it appeared that she lacked the muscular strength to do them. At her yearly check up I brought up my concerns to her pediatrician, who began to study and measure Maya as if he had never seen her before. He said to me, “I am sorry, I don’t know why I didn’t see it before,” and then he referred us to a life of doctor visits. First a geneticist, then a cardiologist, then an ophthalmologist, and so forth…

I have to admit that the magnitude of the diagnosis did not impact us for a few years. Maya’s condition was not straightforward, so the diagnosis was nebulous – maybe she has Marfan syndrome, maybe it is something else, in the meantime, we will treat her as if she has it. So, for the first few years we did not really think that she had Marfan, we just thought there was something amiss – something that needed caution and concern, but was not as scary as it appeared.

So, our biggest immediate concern was deciding what to do about horse-riding lessons. I was in favor of following the cardiologist’s orders to stop lessons, but Maya’s dad (a horse rider himself) did not want to remove the one activity that was central to her 8-year-old life. So, we let Maya continue through one more riding season. Luckily the horse cooperated until the last riding day of the season when he knocked Maya off and into a pile of manure.
The next year was a growth spurt year and Maya’s dad took her to her yearly doctor appointments. That was the end of horse riding. Maya’s dad was duly frightened by the aortic growth and the memory of the last riding day.

My fears over the next few years was less about what might happen to Maya and more about what was happening to her – she was becoming an angry child. I spent less time on potential problems and more time trying to figure out how to help Maya with the issues that were relevant to her 10, 11 and 12-year old world. This natural tendency to a pragmatic approach has been helpful to me and also to Maya.

I could talk about all the things we helped Maya try, but that is her story to tell.

For me, there have been moments when I shook my fist to the heavens, moments when I was sick with worry, moments when I was sad for all of the things that Maya would miss. There were days when I wanted to lurch out at indifferent (or even mean) middle schoolers, days when I wanted to be able to just go into a store and buy Maya a pair of pants that fit – right off the rack! There were frustrations, set backs, relentless doctor visits and the accompanying bills, and this persistent knowledge that my child is not like all of the other children.

However, I have to honestly say that while these feelings existed they did not persist – mostly we were busy living life. We focused on possibilities not impossibilities. Thus, when Maya could not ride horses, we said, “Ok, let’s see what you can do and let’s do those things.” Maya’s dad took golf lessons with her, we took her swimming, she rode her bike, and we went to art museums, libraries and on short hikes. We participated as fully as possible in every aspect of life. Emergency hospital visits sneaked in and forced us to pause, but once the scare was over, we plowed on. Worries about the future crept into our thoughts periodically, so we did our best to crowd them out with a busy and full life.

This is not to say that we stuck our heads in the sand and pretended that Maya was not affected. We became informed, we read and sought research and experts; we encouraged Maya to become informed, we were diligent about health care, we followed guidelines (sometimes too strenuously). Sometimes we made good choices (helping Maya find a support group) and sometimes we were over-protective. No one parents perfectly.

The bottom line is that we came to understand that we do not control some of the critical aspects of our health. Our behavior can affect our health, but we do not decide who inherits what genes, who develops what disease or all that happens to us. But we can control our responses. And for me, that meant that sometimes I just raised my arms, took a deep breath and rode life’s roller coaster with the wind in my face. After all, if Maya can manage so well, so can I.

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A Hitch in McKenzie’s Plans

McKenzie’s family hasn’t posted anything on her Facebook page, but I just read this article in the Tallahassee Democrat, which says McKenzie’s trip to Johns Hopkins for surgery has been put on hold indefinitely. She was supposed to fly out this morning, but yesterday the local hospital decided to refuse a medical release. Without that release, the pilot who had volunteered his time and plane is not allowed to fly her. The hospital has said that they will only release McKenzie to a Johns Hopkins medical transport.

Please pray that the bureacratic details are taken care of soon, and that Johns Hopkins will be willing and able to send a plane to get McKenzie, so that she may have her surgery.

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Delivery in Marfan

There’s seemingly a dearth of information about pregnancy and delivery in Marfan patients and it’s a subject I get a lot of questions on. I was really lucky to happen to live in a city with an OB who specialized in Marfan and have access to one of the country’s top cardiologists during the latter half of my care (he’s now my regular cardiologist, since we moved to California). So, I’d like to share what I’ve learned from my experience, my doctors, and reading up online in a two part series. You can read the first entry, Pregnancy in Marfan, here.

Please keep in mind that I am not a doctor myself, and (like everything else in Marfan), what works for MOST patients may not be what’s right for YOU. Do your own research and talk with your doctors and experts! The National Marfan Foundation has resources and my OB has expressed a willingness to talk with any pregnant/soon-to-be-pregnant Marf woman. Email me at marfmom@gmail.com for his information or for copies of the papers I cite.

There are different points of view on what the best way for a woman with Marfan to deliver. I’m going to present the benefits and dangers of each, so that you’ll be able to work with your obstetrics team (OB, cardiologist, anesthesiologist) to plan the safest delivery for you and your baby.

Natural (unmedicated, vaginal) delivery: No one recommends this for Marfan patients. When your body is in pain, your blood pressure rises. A rise in blood pressure, particularly one that would be as prolonged as with labor, puts you at risk for dissection. You can dissect even if your aorta is not dilated prior to labor. Your descending aorta seems to be the most at risk for dissecting without prior dilation.

Medicated vaginal delivery (epidural or spinal catheter): My OB, Ohio cardiologist, and California cardiologist all agreed that this is the optimal form of delivery for many women with Marfan (those who do not have an aortic root close to 5 cm and those who have not experienced rapid aortic growth during the pregnancy). Prompt pain medication eliminates pain and therefore decreases the risk for aortic dissection. Recovery time for the mother and child is also greatly reduced.

Traditional c-section: This can post a similar risk to the natural delivery. Any time your body undergoes surgery, especially such a major surgery as a c-section, your blood pressure rises. In addition, Marfan skin does not always heal properly and there could be scarring complications. However, some OBs feel that a c-section is safest because it is in a more “controlled” environment than a vaginal delivery and is much shorter than labor would be. My c-section took 45 minutes; the average first labor is 12-18 hours (of active labor, usually defined as at least 4 cm dilated). And as I stated above, for women with significant aortic dilation or a rapidly growing aorta, c-section is the safest route. It is important to note, however, the several papers have documented the risk for uterine rupture after a c-section. In one paper, Dr. Reed Pyeritz (a member of the NMF’s Professional Advisory Board) wrote that he saw this in 4 of his 11 patients (Pyeritz, 1981). That said, that was also in 1981, long before Loeys-Dietz syndrome (LDS) was discovered. LDS carries with it a risk of uterine rupture and it is possible that some of these patients had LDS, not Marfan, and didn’t know it (my own posturing here).

C-section under general anesthesia: Dural ectasia, to a varying degree of severity, affects 60-70% of people with Marfan syndrome. Dural ectasia is like the equivalent of an aneurysm of the dura sac, the sac of fluid that protects the spinal cord. While it can occur anywhere along the spine, most often it is at the base of the spine, right where the epidural or spinal catheter would be inserted. In patients whose dural ectasia is severe enough, a c-section under general anesthesia might be performed. The reasoning for this is that the needle from the epidural or spinal cath would cause a tear in the dura sac, which would lead to a leak of the spinal fluid. This causes a TERRIBLE headache, which can last up to a month. “Marfriends” of mine who have had a spinal leak say the pain and nausea is only lessened by remaining flat on the back. You can imagine the blood pressure issues that could arise from such a headache, not to mention the postpartum problems, like trying to breastfeed.

Difference between an epidural and a spinal catheter: My understanding is that a spinal catheter has a slightly thinner needle and provides a stronger dose of medication. While a woman using an epidural might feel it begin to wear off towards the end stages of labor, my anesthesiologist told me that a spinal cath would leave a woman numb for quite some time after delivery. I am not sure of the additional risks of using a spinal catheter, although I would think it would make it slightly more difficult to push. I have heard some OBs do not allow their Marfan patients to push at the very end of labor and instead using their hands or a vacuum to assist the delivery.

Postpartum care: There is still the risk of aortic dissection after delivery. Women with Marfan must be closely monitored postpartum. An echo no later than a week after delivery is recommended, and again at one month postpartum. Many beta-blockers are safe for breastfeeding, but not all, so discuss your medication and dosage ahead of time with your OB and cardiologist if you intend to breastfeed. You should know that a prolonged high blood pressure postpartum could signal an aortic dissection, even if you have no pain.

My experience: Because of my dural ectasia, my obstetrics team, my orthopedist at Johns Hopkins and I decided at 37 weeks that it was safest for me to have a c-section under general anesthesia. My blood pressure spiked while I was under, to 170/107 (for comparison, I try to keep it at around 100/60 – 110/70). Even on a host of medications it took 5 days to get me to a systolic of 140 and 8-10 weeks to get down to a systolic of 120. No one knows why this happened. Luckily, I didn’t suffer any permanent damage (and no aortic growth). I wrote more about it here.

Moral of the story? Each method of delivery brings its own set of risks and benefits. Keep an open dialogue with your team (and if your OB isn’t meeting regularly with your cardiologist and the anesthesiologists, insist on it) during your pregnancy to determine what is safest for you.

And again: 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:
Meijboom, L. J., Vos, F. E., Timermans, J., Boers, G. H., Zwinderman, A. H., Mulder, B. J. M. (2005). Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. European Heart Journal, 9, 914-920.

Pyeritz, R. E. Maternal and fetal complications of pregnancy in the Marfan syndrome. Am J Med. 1981;71:784-90.

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Please Help McKenzie

McKenzie is a 2 year old beautiful little girl with a very severe form of Marfan syndrome. I first met her mother, Jennifer, a few months ago via NMF Connect, a social networking site for people with Marfan syndrome & related disorders and their families. McKenzie’s aorta is now larger than that of even many adults with Marfan, and she desperately needs surgery. If she does not get this surgery soon, she will die.

McKenzie’s family has arranged the top surgeon in the country to perform her surgery, and he is at Johns Hopkins. However, there are many things that McKenzie is going to need in order to make the flight, and that is where we’re hoping that you, your friends, and your networks can come in.

AngelFlight has agreed to transport McKenzie from her home in Florida to Johns Hopkins in Maryland, but in order to do so, they need the following items:

– Plane to fit 5-6 people and have access to use a AC adapter or Car Adapter to plug in her equipment.
– 2 ventilators weighing appx 10 lbs each
– 1 suction machine weighing 8 lbs
– 2 oxygen tanks
– Emergency bag with supplies
– At least 2 other travel bags

If you, or anyone you know, is able to help with these items, you may contact Jennifer via McKenzie’s Facebook group Pray for McKenzie. Thank you so much!

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Genetic Testing for Marfan Syndrome

Today’s post comes from a question from Tom:
How did you ensure you didn’t pass Marfan on to your child? Any good links/resources on that process?

This is a great question! First, I’ll briefly explain how Marfan works.

Marfan is what’s called an autosomal dominant disorder. This means that it is a single mutation that causes Marfan and if you have the mutation, you have Marfan, at least to some degree (there are mild cases to severe cases). You can’t be a carrier, like you could with something like cystic fibrosis. This also means that children have a 50/50 chance of inheriting Marfan from the affected parent. Marfan happens equally among men and women and across all races.

If you decide to have a baby the old fashioned way, there is no way to guarantee that your child won’t have Marfan. This is the option my husband and I decided on. It was just luck that Menininho doesn’t have Marfan. If we have another biological baby, s/he has the same 50% chance of having Marfan that he did.

If you want to try to be sure that your biological child doesn’t inherit Marfan, genetic testing may be an option. First, the affected parent must be tested. 90-95% of people who meet the clinical criteria for Marfan test are able to have their mutation identified. A negative test result doesn’t necessarily mean that you don’t have Marfan (although it could mean you have a related disorder instead, like Loeys-Dietz syndrome, MASS Phenotype, or a form of Ehlers-Danlos syndrome). Dr. Dietz, one of the world’s pre-eminent Marfan researchers, explained it to the teens at conference like this. We know that Marfan is caused by a change to FBN-1 (fibrillin). Right now, we know how to test FBN-1 itself. However, there are all kinds of proteins that may create changes to FBN-1 that we haven’t yet identified, and the 5-10% who clearly meet clinical criteria probably have mutations that just haven’t been discovered yet. Confusing, I know.

[Moral of the story: rely more on clinical criteria for a diagnosis and save genetic testing for 1) pregnancy issues and 2) when it’s hard to get a clear diagnosis .]

Aaaanway. So, you want the genetic test to locate your mutation. There are a few different labs that do the test, but I hear that all labs are not created equal. Tulane University’s Matrix DNA Diagnostics lab was the first in the country to do the FBN-1 test and is spoken highly of. I had my test done there 4 years ago. Click here to download their FBN-1 testing information. Many insurance companies are now covering this test, but if not, the initial test will cost $1400 (from Tulane). You can have your blood drawn anywhere and shipped overnight to Tulane. If you live in the US, it will take 5-6 weeks for you to get your results.

Once your mutation has been identified, you and your partner will need to find a center that does pre-implantation diagnosis in-vitro fertilization. Basically, the doctors will create embryos in the Petri dish and test them for the mutation that you have. [Each family shares the same mutation but manifestations of that mutation vary, meaning some family members might be mildly affected and others more severely affected.] If you’ve produced an embryo that doesn’t have Marfan (which is not a guarantee), one will be implanted in the uterus and if the implementation works, your child shouldn’t have Marfan.

If you’ve gone the old-fashioned route, you can still find out right away if your child has Marfan (providing you had the genetic test). You can test the baby in utero using amniocentesis, or you can wait till he’s born. We used Menininho’s cord blood and had the sample shipped to Tulane the same day he was born (needed to be the same lab where my test was done). When doing testing on other family members like this, the test is only $350 and results can be had in 2-3 weeks.

If you do not do genetic testing, it may take much longer to find out if your children are affected. It is my understanding that the aorta is not stable until 3 years of age so it may not be useful to do an echo prior to this point. A slip lamp eye exam should be done around 18 months of age so that any potential vision problems can be addressed so as not to interfere with physical development, like walking. Because Marfan is progressive, it may take years to know if children are affected. Routine echoes and eye exams are recommended to catch any problems early, since preventative medicine is best.

OK, I think that covers the bulk of it. I’m sure there are things I’m forgetting. Always feel free to post questions on this or other questions and I’ll help you find the answers! Further information on genetic testing and labs that will do the FBN-1 test can be found via the National Marfan Foundation. Amy Kaplan is their nurse and you can contact her at akaplan@marfan.org.

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.

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