Hi Kika,
There are many genes with variable penetrance, meaning that the 
phenotype (what you see) is different depending on what other genes the 
person inherits or epigenetic factors in how the expression of the gene 
is controlled. With the amount of experience you have with normal 
babies, I would not doubt at all your gut instincts when something isn't 
right.

I have no good answer for what to do. There have been times I've sent 
kids right to the hospital or doctor, and those times I've usually been 
right (one had hypernatremic dehydration, the other a critical cardiac 
defect, another had pyloric stenosis). It's harder when the infant seems 
to be well but has dysmorphic features. Here in the US, I will usually 
document them and share them with the infant's physician or nurse 
practitioner in my consultation report letter. There, YOU are the 
doctor, so it's even harder.

The one thing I've found that helps is to ask mom about her own thoughts 
and feelings. Do you have any concerns about your baby? What do you 
thing about this squeeky noise he makes when he's breathing? Who does he 
look like (once I saw a very funny looking little guy, but then I saw 
dad, same ears, philtrum, nose! Looking just like a parent is not a 
guarantee all is well either, as some disorders are caused by unstable 
duplications, where each generation gets more copies of a part of a 
chromosome until suddenly a threshold is crossed that causes symptoms.

If mom voices concerns, then I would encourage additional testing, 
especially if the baby feeds and swallows poorly. In any case, I'd try 
to follow the little one more closely than usual and see what early 
development is like. You might be in a better position to do this.

Catherine Watson Genna BS, IBCLC  NYC  www.cwgenna.com

On 11/8/2015 12:14 PM, Carmela Baeza wrote:
> Hi all,
>
> I´d like your experience on this one...
>
> Sometimes (fortunately, very infrequently) a mother will come to the clinic
> with breastfeeding problems, and as I look at the baby I´ll immediately
> think "There´s something I don´t like about this baby". It won´t be
> anything spectacular, just baby´s skin color a bit off (not jaundice, just
> something about the tone), something about his body posture, something
> about the shape of his face or head, something about his features... As if,
> *if* these signs were more important, he would have a syndrome of some
> kind. But they are only small things that come to my attention simply
> because I see so many "normal" babies.
> Obviously this baby has been seen by at least one pediatrician at hospital
> discharge, more times if the baby is older than a week.
>
> My dilemma here is, do I tell the mother anything? If yes, what? and how?
>
> I´ve faced this situation a few times. The first time, I told the mother
> gently about my impressions. She of course was worried and went to the ped,
> who agreed with me (but hadn´t done anything before), and the baby got all
> sorts of tests (genetic, bloodwork, gut...) for a period of several months,
> and nothing came of it. So the poor child suffered tons of things and the
> parents months of anguish for nothing...
>
> Second baby I told the parents nothing but I had them come in frequently to
> check weight and latch so I could keep an aye on him. Turns out he had a
> rare malabsortion syndrome which was diagnosed a month later. Baby had FTT
> despite mother´s great milk supply and his good sucking skills. So no harm
> came of my not telling the parents about those little tiny signs, but maybe
> if I had he would have been diagnosed sooner or parents would have been
> ready.
>
> Neither option, the telling and the not telling, felt right to me!
>
> So how do you handle these situations? How do you say to the parents "look,
> there is something about your baby that seems to be off, but its just my
> impression" ?
>
>
> ​Thnks,
> Kika​
>
>

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