Heart checkup

[marydell]

Charlie went for his heart checkup this morning -- he was born with a small PFO (fancy term for hole in heart) -- harmless but something to watch.  Today's followup ECHO shows that the hole has grown a bit.  It's still harmless but now it's called an ASD.  If it gets bigger it will need to be fixed with a not-horrible surgery where they use a catheter to put a screen into the hole.  Right now we're on a yearly followup schedule and the doc emphasized that this isn't affecting Charlie in any way.  

Disney's Sleeping Beauty was playing on a TV in the room while they were doing the ECHO.  When the doc came in and RE-DID the same ECHO that the tech had just done, because he just wanted "a few more pictures," with all 3 of his residents peering over his shoulder, I pretty much knew he wouldn't be saying "yay, the PFO closed up, as we hoped!".  Meanwhile the movie was just reaching the part where there are storms and portentious music, so I asked one of the residents to mute it.  If I'm going to hear bad news I really don't need dun-dun-duuun!!! music playing in the background.

It is bad news.  The ASD isn't such a big deal, but it's a diagnostic marker for Holt-Oram syndrome---more specifically, it's the marker that was initially missing, that kept the geneticist from diagnosing his condition as Holt-Oram.  The other diagnostic marker is an anomaly of the bones of the forearm, which it's safe to say he has.  So we'll be going back to the geneticist to see if we can get a single-gene test to confirm that he has it, but even without that I think she'll make it a formal diagnosis instead of the "maybe" we've had thus far.

Holt-Oram is a single-gene mutation that can cause small defects like webbed fingers, large defects like entirely absent arms, and ASD and VSD of mild to extreme severity.  And it's autosomal dominant.  So if Charlie does have it, his decisions about his future family will be a lot more complicated than we want them to be.  We pretty much already expected this, but right now, when we're struggling with family-building decisions of our own, this new bit of data is hitting us very hard.

Charlie feels fine about it, fortunately.  He fell asleep during his ECHO and is at daycare now, while I get ready to go to work--I have a critical change to implement later today, so I can't take the whole day off to mope, unfortunately. But I have the next two hours off so I'll double up on the moping and see how that goes.

Comments

[gailmom.livejournal.com]

My deepest sympathies to you and yours. Such news has to be hard to handle. We had some brief worries about Monkey, given his initial speech delay and severely pigeon toed feet (that were thankfully put to rest early)...so I can only begin to imagine (from that tiny taste) how you must feel about this confirmation of your worries.

*hugs for you all*

[marydell.livejournal.com]

Thanks. It's overall not so bad, since it doesn't indicate a worsening condition for him, but it does mean it would probably be a bad idea for him to have kids, which is very crappy.

I'm glad Monkey's ok...foot problems are no fun. Did he start catching up on speech after he got the tubes in his ears? Now that Charlie has them he's babbling a lot more.

[gailmom.livejournal.com]

he's still about a year to 18 months behind on speech details...but he babbles like a sorority bimbo now, so he'll get those pesky diction parts figured out soon. hopefully once he starts putting all the consonants where they go, we'll also have fewer "I'm sorry, I just don't understand, can you show me?" moments. :)

[kouredios.livejournal.com]

Like gailmom, we had some brief worries about Cassie and her heart, but they were managable within the first year. I'm so sorry to hear about Charlie's ongoing challenges, and I hope you have super doctors and support staff around to help. *hugs from me too*

[marydell.livejournal.com]

Thanks. Our doctors are awesome, and this seems like it will be totally manageable...it's just a button-pusher.

[kate_nepveu]

Understandably so. Support and hugs all around.

[marydell.livejournal.com]

Thank you!

[rarelylynne.livejournal.com]

*hug*

[marydell.livejournal.com]

Thanks.

[mrissa.livejournal.com]

I'm glad it's nothing that will get particularly worse. My mom has an ASD that has not caused her any problems in her life, and I hope Charlie's is the same. And who knows what medical science will be able to deal with effectively by the time Charlie is old enough to be making family planning decisions? We'll keep supporting heart research and hoping for the best.

[marydell.livejournal.com]

Amen to that. I expect there will be a ton of options available to him. More importantly, he'll grow up knowing that LIFE has a lot of options for him, instead of "MARRY AND REPRODUCE" being drilled into him from the get-go, the way it was for me. Unless I fuck up and accidentally leave him at the Catholic church for a month or something.

Good to hear your Mom is fine with an ASD. It seems to be fairly common, but it's still kind of alarming when it's inside someone you love...

[kalmn.livejournal.com]

a) suck.

b) did you hear what you just said? charlie is going to grow up to adulthood, meet someone fabulous, and raise babies with them. that seems like a pretty good outcome to me. maybe he'll be gay and they'd have to adopt or do surrogate with the baby being genetically fathered by his husband. maybe he'll grow up with a firm commitment to adoption and want to adopt because it was so good for him. maybe he'll meet a nice woman who already has kids. who knows.

c) doesn't mean it doesn't suck.

*hug*

[marydell.livejournal.com]

Thanks. B is totally true. We're projecting, because we're in the middle of our own infertility grief...have I mentioned that the current estimates for our China adoption put us into 2013? Ugh.

[pameladean]

Mris said what I was going to about Charlie's future decisions. But I know the news is a blow right now, and I'm sorry.

P.

[marydell.livejournal.com]

Thanks. It really won't be so bad...it's just pushing our buttons.

[princessofg.livejournal.com]

sending you wishes of hope and encouragement.

[marydell.livejournal.com]

thank you!

[ckd]

I realize this is hard news for you to hear, especially right now.

Thinking of you.

[marydell.livejournal.com]

thank you. It gets better as it sinks in further, fortunately.

[readinggeek451]

*hugs*

[marydell.livejournal.com]

thank you.

[txanne.livejournal.com]

*love and hugs*

[marydell.livejournal.com]

*back atcha*

[redrose3125.livejournal.com]

[[hugs]]

[marydell.livejournal.com]

Thanks.

[rivka.livejournal.com]

I'm sorry. No matter how prepared you think you are... he's your kid. You want it all to be sunshine and rainbows.

I did all the "adjusting to disability" stuff for myself, and it wasn't easy. And then I had kids, and started to realize what my lifelong medical saga must have been like for my mother.

Best wishes to you all.

[marydell.livejournal.com]

Thanks. His "official" disability has always been so much easier than the other health problems, ironically. Hopefully this will continue to stay on the easy side of that fence!

[unhappytriad.livejournal.com]

My sister's term for the mental adjustment necessary in situations like this is "I'm putting on my brass bra." I'm sorry you had to put yours on this soon. Courage!

Also, what mrissa said about a generation's worth of medical advances, and what kalmn said at (b)--the only one of my kids who wants kids is planning to adopt, for reasons unrelated to genetics.

Hugs and support--not that you need any more support, what with the brass bra.

[icecreamempress.livejournal.com]

Tough stuff. My best wishes for continued good care for Charlie.

And you know what? If he winds up choosing to adopt, he will be an incredible adoptive father because he's been on the other side of the equation. His kids, if he chooses to parent, will be lucky people regardless of their DNA connection to him.

[ma-ee-uh.livejournal.com]

Should Charlie want to be a biological father but not pass along this gene (should he, indeed, have it), he could do so with IVF and pre-implantation genetic screening (as long as scientists have IDed the Holt-Oram gene), which I'd guess in another few decades, may be somewhat routine.

[marydell.livejournal.com]

That's one of the various possibilities that I mean when I say "more complicated than we want them to be." We'd rather he could just have kids the old fashioned way without worrying about potential harm.

[ma-ee-uh.livejournal.com]

I hear you ... but I bet that kind of thing really will be fairly routine by that time! :)

[marydell.livejournal.com]

No matter how routine the alternatives become, my crunchy side is fond of the idea of organic conception...What we're hoping is that genetic repair/gene donation will be possible by that time, so that genetic diseases could be eliminated without eliminating the entire embryo.

[ma-ee-uh.livejournal.com]

I understand. I am actually in a similar boat as your son, genetically, which is one of the reasons my husband & I plan to choose adoption, actually.

That said, it sounds like it's not 100% that he has this gene - is there a test to confirm it?