Musings of a Marfan Mom

Allergies, Loeys-Dietz, and Hospital Trips, Oh My!

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Well, let me tell you what. It’s almost midnight and I’ve had like 7 hours of sleep over the past two days combined and right now I’m a little punchy. But, I wanted to update about our trip. J-Man and I traveled to our out-of-state hospital for his 6 month echo and to meet with the GI specialist that everyone in the Loeys-Dietz community raves about. Bonus points if you actually read to the end of this.

Fun fact: two of my good Marfriends (the same ones I saw in June) had appointments the same afternoon as we did! We didn’t even plan it that way! That made the afternoon great because after echoes we just let the kids run up and down the hall playing together while we waited for our turns with our nurse practitioner (CNP).

kids with Marfan syndrome

Aren’t they cute?


Ok, so, back to the beginning. First up we had the meeting with the GI. He was super nice and even lets kids play with his iphone which I thought was kind of a big risk but he’s a dad to little kids, so he gets it. I think we spent an hour with him and he asked really specific questions about J’s bowel movements and diet and previous test results. We talked about allergies, and he explained there are two types. The first type has an immediate outward appearance, like a peanut allergy, and that can easily be tested for in the blood. The second kind causes just internal issues and can’t be tested for…it can show up in an endoscopy or colonscopy b/c you see inflammation, but that’s about it. He believes J’s dairy intolerance is actually an allergy that falls into this second category.

When it comes to the diarrhea, he thinks it’s an imbalance of bacteria, which is kind of what our old and new local GIs have said. He said it wasn’t being treated correctly before, and gave us prescriptions for a new antibiotic and probiotic. His thought here is that the diarrhea usually got a bit better on antibiotics, and if this was another allergy it wouldn’t respond that way. So, I understand that and respect his line of thinking, but I’m still skeptical. I think I am just exhausted from doctors telling me this is all bacterial for the past 8 months and trying different antibiotics – which isn’t exactly a benign treatment you know – only to have J not be any better than he was back in March. The GI did say to keep him appraised of how the treatment goes and if we don’t see an improvement in the next few weeks (it’s a month-long treatment) to let him know, and he’d recommend a flexible sigmoidoscopy and then we’d start looking at allergies.

Also, he said that there is a difference in allergy presentation between Marfan and Loeys-Dietz. In Marfs, the presentation of allergies and the frequency of allergies is not any different than in the general population. However, people with LDS tend to show allergies in unusual ways, and allergies are very common in that population. Knowing that my family has multiple LDS characteristics, the doctor told me if we ever tested for LDS and found that we have it to let him know and he’d change J’s treatment plan b/c then it would be much more likely to be allergies over bacteria.

Echo was pretty uneventful and super fast, which was great because J was NOT enjoying it. Our trick is pulling up photos on my iphone and letting him scroll through them though…he loves that!

silly toddler

Goofing around waiting on a doctor


Good news from the echo is that his aorta is stable! Best. Word. Ever. Seriously. So, we’re holding off on meds because I don’t want him to go on losartan till he has to or we know more about it, and he can’t take beta blockers due to his asthma.

But, after a good discussion, my CNP and I decided I should get tested for all 4 types of Loeys-Dietz (yes, there are 4 types now! Tgfbr1, Tgfbr2, Tgf-beta, and SMAD3). See, we know J and I have Marfan syndrome. We have an FBN1 mutation that has been identified in someone unrelated to us and they had an aneurysm, so we know it’s a Marfan-causing mutation, as opposed to MASS Phenotype or Ectopia Lentis, or just a benign one. That’s not all that common, to share a mutation with someone you’re not related to, so we’re lucky that way. But, my Marfan is kind of atypical. I definitely look Marfish but I have sort of wide-set eyes and velvety skin, plus I had that issue with my femoral artery, and my dad had a cleft palate and my brother had club feet as a baby. Oh, and we can’t forget J’s GI stuff. Those are all very LDS-ish. On the other hand though, not to brag or anything, but my aorta is kind of awesome. It’s on the large end of normal but has yet to cross over into the land of being dilated. That’s uncommon for Marfan and even more uncommon for LDS.

It would be SUPER rare for someone to have both LDS and Marfan so I am not holding my breath that any of the tests come back positive, but I should know in 3-4 weeks. My CNP has worked with me since I was 13 though and she told me my diagnosis never felt quite right to her (not a surprise; we’ve discussed this many a time before), so I trust her judgement in doing the testing. And if it’s positive? Well, I will have to come up with a snazzy tagline for this blog, I guess!

I’ll keep you all posted! But now it’s almost 1, and it will be after 1 before I actually hit publish, and I am talking in run on sentences, so that means it is time to GO TO BED before I turn into a pumpkin. Or something.

Oh and P.S.! You know what the worst part about having a child with chronic diarrhea is? You’re at the airport and it’s just about time to board, but there are no bathrooms on your floor! The nearest bathroom is literally 5 minutes away! And there is no way you can go to the bathroom, change him, and get back in time to board. So (and I know some of you have done this, don’t pretend like you haven’t!), you go find a remote corner near the elevators, whip out a blanket, and change him on the floor (that is the worst part, not what happened next, just FYI). And then two airport sanitation workers happen by and see you, and so one of them proceeds to making gagging sounds, as they then loudly discuss what a terrible, gross person you are to each other. Karma, ladies. It’ll get you. Probably by way of something GI related.

tired toddler

At the airport, waiting on Daddy and M

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11 Comments

  1. I win bonus points! I didn’t understand it all, but I read it. You teach me so many things. I hope you figure out what’s going on with J and that you get some sleep!

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  2. SO awesome to see you guys at the hospital. And having friends there made the LONG day go so quickly!

    By far my favorite moment was J running down the hall and giving me a hug. UGH – just melted — he is so sweet. :)

    Will be very interesting if those tests come back postitive.

    Oh, and yeah, its okay to brag about your awesome aorta!!! :) Well deserved.

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  3. BONUS POINTS!! I got a bit lost with the genetic stuff, but always enjoy reading your blog. Hope you and J get answers very soon and can celebrate some normal stools!

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  4. Changing a diaper in a remote corner on a floor should not be a crime. Grow up, sanitation ladies. Poop happens!

    Otherwise… really hoping you get some answers soon!!

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  5. I get bonus points, too! So, Mia, is there a chance that your Marfan diagnosis was not correct in the first place?

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    marfmom Reply:

    No. The Marfan diagnosis is definitely correct. I have a known mutation. So, this would be something additional. Weird, huh?

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  6. Hi Maya – Great story- glad your trip was successful. Any advice on how to schedule an appointment and how long was your wait to get in? At the urging of the docs in Chicago, we saw yet another a geneticist this week and got MacKenna tested-should know something in 4-6 weeks. She told me I should take up the advice from Dr. D and come see them. Also went for an MRI as her back/butt pain is getting unbearable. Yes, as I suspected, dural ectasia was confirmed. Please contact me via email if you can offer any advice…..

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  7. Great news about the stable aorta! YAY! And you made me laugh out loud with the end bit about changing in the corner. Been there! My regret is that when these mean strangers don’t empathize with us, that we don’t actually ever get to find out how Karma got them back. Just found your blog today via Max’s link party. Thanks!

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    marfmom Reply:

    Um, so I definitely had the same thought re: not getting to find out how Karma got them back. Lol.

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    Kristi - Finding Ninee Reply:

    Ha! So it’s not just me *relief*
    :)

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  8. Dear MarfMom, After reading a scientific publication about the link between Loeys-Dietz syndrome and allergy, I went online to learn more about LDS and discovered your blog. You put a human face — figuratively and literally — what having a “syndrome” like Marfan’s or LDS means and changed my whole perspective on the research. I certainly wish you and J-man the best a cure in his lifetime.

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