米国マルファン症候群患者団体The Marfan Foundationからの情報を中心に、マルファン症候群や関連疾患についての海外情報を翻訳して発信します。


Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine




So I think I have a question, I think this goes along with role modeling that you were talking about, Allan, where like a parent wants to, once, wants to know how best to explain Marfan syndrome to their child. The child has attention deficit or learning disabilities and they want to know like why they look different from other people and how can the parent, how can a parent best talk to their child about their condition knowing that all this other stuff's going on and maybe to help normalize it a bit.



Yeah, so I'll tell you how I do it or how I advise parents, is that every single human being carries variations of their genes, every single person. Some we know about just because it leads to some sort of difference in how we learn or how we look, how we grow and so forth. Others we don't know about because it's not so readily apparent on the outside but we all do and so this is a variation that we know about because it causes these, these changes or these differences and it's part of human life that we all have these variations 



And for you we just, I mean for the kid, I would say or advise the parents, say we just happen to know what your genetic variation is here and it causes you to be a little bit taller, it causes your joints to have these sorts of issues, you may have a little bit more problems with eyesight but ,you know, what it's part of the human experience.



So that's, that's kind of how I couch it and it and I'm not making that up. It's really true. The, the number of mutations that we all carry is really amazing and it's, it's present in all of us. 



We have a couple of kids books that, that help parents talk to their kids and open up the conversations so I'll make sure we send the links I'm out when we send out our follow-up email to everybody. 

The Marfan Foundationが発行したお子さん向けの本が数冊あります。こうした話をする際のきっかけになると思います。


Yeah, the ADHD and learning part, Eileen, you know, again I'm not sure, I would say and, and by the way in addition to maybe being a little taller and having problems with your eyesight, etc. etc., and having to be seen by a cardiologist, you know, you're gonna ha, you know, you may be more at risk for having learning problems and attentional problems. I actually would not I, I see families who have kids with lots of other genetic conditions and that can be part of the conversation and oftentimes is. 



Right now in connective tissue disorders I generally don't include that and I kind of keep that separately and if you start looking at those stats that Mark put up there, you know, 17 percent, 13 percent, that's pretty close to the epidemiologic percentage that you see in kids in at one time or another who have learning disorders or who have ADHD irrespective of whether they have a genetic risk, so we don't know, we just, we just I wish we did know because it would actually really help. 



That, that was my next question. How did those sets compare to the general populations?



Yeah, they're close. 



Yeah that's close. 






So, so I guess my question really and I was thinking about this as you were all talking so I know people want to know like, "Is this related?" but at the end of the day whether the child has one of these connective tissue conditions or not you still need to deal with the, these other issues in similar ways, right? 



You, you do but here's the exciting thing and this is why I'm in this area is that if there is indeed a specific risk associated with a particular condition or genetic variation the prospect of dealing with it in a disorder-specific way all of a sudden becomes open. 



You know, and so again there's some other conditions that I, where I work with families, where we know enough about the, the genetic condition and all the downstream effects that in fact there are disease or condition-specific treatments that have been designed and are being tested. 



So it's a little bit like if you have pneumonia. I was giving that example. You know, if you go to your doctor and he or she gives you a cough suppressant and acetaminophen and says get some rest. And you're really sick. At least I would not be very happy with that treatment. I'd say, "Well, what's my pneumonia from?" You know, is it bacterial? Is it viral? Do, is, is, it because I've been having wheezing, you know, Do I need a bronchodilator? Do I need a specific antibiotic? I want to treat the cause of my pneumonia. 



So in the same way I would want to treat the specific underpinnings of a learning or behavioral condition and we're not there yet really in any condition except for, not for any kind of clinical neuroscience condition. 



But, you know, things like sickle cell anemia now are being treated that's not a, you know, it's not a primary brain condition but there can be brain effects. It's being treated with specific targeted genetic therapy. 



So that exciting time is, is right in front of us so that's why I'd say it'd be worth knowing but you're right. You got to use the tools that you have right now. 






The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.

The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。