Musings of a Marfan Mom

Baby J Update

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Time for an update on Baby J’s big Marfan appointments.

I finally got a copy of his complete echocardiogram report in the mail. You can imagine how I felt to learn that he has a patent foramen ovale, which is a small hole in the heart. Now, I am familiar with PFOs and they are extremely common and basically harmless. I’m not worried about the PFO. It is likely that it’ll close on its own by J’s next echo, anyway. What I am mad about is that I learned of it on his echo report. This is really something his cardiologist should have mentioned to me at the echo appointment itself. I also discovered that I was correct about J’s aortic root measurement (I read it as I watched the tech do his echo). It was not even close to the number the cardiologist made up. Argh. J’s root is currently on the border between normal and enlarged. I’m not overly concerned, especially since he had a large growth spurt shortly after the echo, but again: I should have been told the actual measurement and not some number the cardiologist pulled out of his head to try to pacify me into not asking questions.

Anyway, outside of that, J had his first ophthalmology appointment last week. I was much more nervous about this visit as I noticed that he isn’t tracking or focusing. J wasn’t a huge fan of the lights in his eyes, as you can see below.

I’ll tell you what I was a fan of though: his doctor! She is fantastic! At first she began to explain Marfan vision to me in terms of the basics. When I explained my background and volunteer work with the NMF though, she began to talk to me more like a peer, which I really appreciated. And if that wasn’t great enough, turns out she was a protege of THE Marfan ophthalmologist, so she really knows Marfan eyes.

It’s really amazing what they can tell about eyes so early. Turns out J’s lenses are intact for now (though the doctor couldn’t get a good look at his bottom lenses, which is normal for his age), which is terrific. He is a bit nearsighted, but doesn’t need glasses yet. I was right too, in that Baby J is delayed in his ability to focus his sight on an object/track objects. Although his doctor normally sees her patients with Marfan every 4 months, we have an appt. to go back in 8 weeks if he doesn’t catch up in the meanwhile.

No more Marfan appointments for J until his geneticist appointment at the beginning of April.

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13 Comments

  1. Good news so far. I agree that the cardiologist was lacking. The bottom picture is absolutely precious!!

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  2. Blarg re: cardiologist, but who’s a super cute baby?your baby is a super cute baby.

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  3. Can I just say THANK YOU for writing about Baby J’s check ups and follow ups? Husband (with Marfan Syndrome) and I aren’t planning biological children at this time – we have one son adopted several years ago – but this kind of info is so helpful if we found ourselves making that choice. And Baby J is just adorable, even when he’s less than happy :)

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  4. I’m glad everything is looking great! He looks great to me at least. :)

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  5. i’m really upset about the cardiologist. I know you said he was the only option for pediatrics that deals with marfan in your area it just seems really bad, considering. I’m just going to hope/pray that somehow that changes. maybe in July/August-ish with new Doctor arrivals?

    Anyway, it is really upsetting to me. :( but J is super cute, as slee said. And i dig that you can see the marfan expressed in his backwards bending fingers already :)

    Glad the optho was better!

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    marfmom Reply:

    Yah, I have calmed down considerably since getting that echo report. It’s a good thing that I didn’t get it till office hours had closed for the weekend so I had a few days to cool off before making a phone call about it. I’m starting to look into other options, but I’m willing to give this doctor a second chance at our next appointment before moving on. I’d rather have a doctor who knows less about Marfan but is willing to listen to and work with me than a doctor who knows a lot about it but doesn’t see parents as being part of the healthcare plan.

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  6. I wish doctors would tell us everything and not determine what we should and should not worry about. Like how I found out my daughter had a murmur at birth from her autopsy report. Ugh.

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  7. Ugh to doctors who tell you what they think you want to hear instead of what is fact. It’s so much easier to just tell the truth instead of having to backpeddle later. I hope the doctor shapes up next time you go!

    A random sharing thought, I had a PFO that closed on its own. I guess it’s a “leftover” from the fetal circulation system. Is it common in Marfan or just one of those things that can happen either way?

    I’m going to have to go back through your archives now and see what about Marfan affects the eyes. I didn’t know that.

    Also? He is possibly one of the cutest babies EVER! Even when he’s all sad. I just want to pick him up and hug him! :)

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    marfmom Reply:

    Lol thanks!

    PFOs are not related to Marfan. I am going to ask at my next echo though if I have one, as I had an episode in college that might have been a TIA. I think 25% of people have a PFO or something like that.

    As for the eyes, the most common problems are nearsightedness and lens dislocation. Somewhere between 50% and 80% of Marfs have dislocated lenses. Other eye problems include detached retinas (which can cause blindness), early glaucoma, and early cataracts.

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  8. He is SO stinkin’ cute, even when he’s pouting :)

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  9. who is THE Marfan ophthalmologis?

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    marfmom Reply:

    Dr. Irene Maumenee, who now practices in Chicago (I’m not sure which hospital).

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  10. Oh my gosh, I love her!! She was my first eye doctor and did my first surgery in ’86 when I was 3 in DC. We lived in Houston and went to see her a few times till we found someone good in houston. In ’07 i needed my first lense replacement and one of her former students did it. He wanted to do it one way but I didnt feel right abt it so I called Renie to talk toher abt it and she was too sweet to walk me through it and give me some advice as well as different instructions to relay to my doctor. You would have loved seeing the look on his face when i went back and told him how to do the surgery differently. Shock! Then when I told him I was really relaying Irenes instructions per her study, he was more than happy to do it. Then she made herself available for me and my doctor to call again right before surgery. Can you imagine such a doctor ?! Got to love her!

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