Musings of a Marfan Mom

So Your Child Just Got Diagnosed With Marfan Syndrome

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Curiosity about Michael Phelps aside, it appears most people find this blog when their child is diagnosed with Marfan (as opposed to coming across it for later stage Marfan information, autism information, etc). I figured I’d take a moment to give some of my tips for what to do in the short period after diagnosis.

First of all, sit up straight and take a nice, deep breath. Go on. From the abdomen! Take two if you’d like.

Marfan syndrome is a serious disorder, to be sure. But, there is no timestamp on your child’s head. This is true even if your child has severe early onset of Marfan (formally called neonatal Marfan syndrome). The old thinking was that children with severe Marfan would die by age two, and a lot of doctors still tell parents this. Marfan is life-threatening and yes, babies do die from it. However, lots of kids are living way past two now thanks to some exciting advances in surgery and medication. And in general, the average life expectancy for people with Marfan syndrome is the same as the general population. Please do not feel hopeless!

Marfan is caused by a change to the gene FBN1 on Chromosome 15. Most families have their own mutation, so if your child was genetically tested and told they are the first with this mutation, do not be alarmed! Not everyone is able to find their mutation, so if your child got a negative test result do not be alarmed! Clinical diagnosis (symptoms) is more important than the genetic diagnosis; 5-10% of people with Marfan have a negative FBN1 test result. There is nothing you did to cause your child to have Marfan. The change to the gene happened before you (or the mother) even knew you were (she was) pregnant. It. Is. Not. Your. Fault.

Now, if you haven’t been there already, you need to open www.marfan.org in another window. This is the website for the National Marfan Foundation (NMF) and they are going to be a lifeline for you, ok? Their phone number is 1-800-8-MARFAN. You want to get on their mailing list (right hand side on the website). If you have medical questions or would like to get connected with a Marfan clinic in your area (which I highly recommend, if one is available), you’ll want to contact their nurse, Amy: support@marfan.org. Jennifer B., their social worker, runs a telephone support group once a month for parents of affected children. You can reach her at the same email address as Amy. The NMF has a volunteer database. Online you can access group leaders and telephone supports; if you’re looking to connect with a non-local grouping (say, parents of other babies), just contact Jennifer. Calling the main phone line or using that support email address will also get you a packet of information for yourself. Depending on the age of your child there are also two children’s books available, information for the schools, and a book for teenagers. There is a teen website too, and a social networking site. Oh, and order a medical card for each wallet!

The NMF also puts on an annual conference in the summer. There is a 2 day free clinic, staffed by many of the best doctors for Marfan syndrome and related disorders. After, there are two days of workshops and social activities. It is life changing! You will learn more about Marfan in that time than you’d learn in a year on your own. There are programs for the children, teens, and young adults. Registation typically opens in March and the conference itself is in July or August (this year, it’s August).

Talk to your doctor about appropriate medications. Beta blockers are the current standard of care. They lower the blood pressure, which lowers the pressure on the aorta and helps slow down its growth. ARBs like losartan/cozaar are currently being tested in a large scale trial, to see if they might be as effective or more effective than beta blockers. It will be a couple years yet before the study is finished, but losartan is being used now in children with very severe Marfan syndrome. Dr. Hal Dietz from Johns Hopkins published a paper on 10 or so children who were taking losartan…I think in 2008? New England Journal of Medicine? If I can find the paper I’ll come back here and link to it.

Finally, Google is not your friend. There is a LOT of misinformation about Marfan syndrome out there. I’ve got a tab with Marfan resources at the top of this page and I can vouch about those being ok. A few are other blogs. Really though, no one has more up-to-date info than the NMF. I can’t stress that enough.

I know I’ve probably only scratched the surface with this post, but I just wanted to hit a few of the biggest issues….things you should know right off the bat. There is a LOT for you to learn. Eventually, you will learn it. You do not have to learn it all today, or even next week. You have now become part the Marfamily and we fiercely protect our own. There are SO many people ready and waiting to help you, whether that is giving you information or providing a shoulder to cry on. So go ahead and cry, shout, shop, eat copious amounts of chocolate…whatever you need to do. This journey is hard, but you are going to get through it. I promise.

Please let me know if you think there are other posts like this that would be helpful…one for if you suspect Marfan? Or one breaking down all the specialists? Something else?

And as always: 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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6 Comments

  1. Oh, if I’d had this info 30 years ago!!! Back before the internet, and in the early days of the NMF, information was so scarce. I felt like I was a freak and doomed. So for anyone reading this who is new to the Marfan world, I am 56, and I have several Marfan friends older than me. Educate yourself. Get regular check ups. Take your meds faithfully. Life is good.

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    marfmom Reply:

    This August will mark 19 years since I was diagnosed. I am in awe of how much is available today that wasn’t around then. I’m really grateful I was able to connect with other parents so quickly after J was diagnosed; I wish my parents had had that opportunity. It took us 5 years to find you, Barb, and your group.

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  2. If I found out one of my kids had Marfan, I think I’d like to know about specialists or maybe what other things to watch for? Like because I know you I know that Marfan can cause problems for eyes, but I wouldn’t have a clue otherwise. Also, as a parent, I’d wonder about what my child would be able to do/not do (like sports) as they grew older. Don’t know if that helps, but that’s what I’d wonder as someone who doesn’t know much about it. I think this is a great post!

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    marfmom Reply:

    Thanks! Great suggestions!

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  3. I have a family I am in contact with that showed a genetic change on the FBN1 & will likely have a Marfan diagnosis in a couple of weeks, and another just starting to rule in or rule out a diagnosis that I am going to send this to. Thanks for putting this together Maya!! :-)

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    marfmom Reply:

    Glad to hear it may be helpful to them!

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