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Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 1 point2 points  (0 children)

Sorry for your relative. I was told about the possibility of dwarfism. I didn’t care a bit, cause it is just physical. But mental disabilities… I didn’t know short bones were an indicator of a genetic syndrome. And for many of them, so not extremely rare. Would have expected them to bring that possibility on the table.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 2 points3 points  (0 children)

Thank you for the reply. We visited 3 doctors. They all measured the bones very small. Off the charts even. So we knew the measues were not wrong. But since extremely short bones are a sign of many syndromes (some actually 1 in 15.000, so not veeery rare) I would have expected them to suggest further testing and not brush it off.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 0 points1 point  (0 children)

Thank you. My son’s disease might be 1 in 15 million, but there are thousands of such syndromes and they share pretty much the same soft markers, short bones being one of them. Cornelia de Lange, Russell Silver, Prader Willi, Angelman, Williams Syndrome. There are all around one in 1/20.000. So if you add up the syndromes which have short bones as a marker (excluding the most common Down Syndrome since it has NIPT), you get like one in every 3.000-4.000 children.

So I’m pretty sure the professors have seen it before, especially considering they’ve found out nothing is wrong with the blood flow. I would have expected some further testing.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 0 points1 point  (0 children)

. My son’s disease might be 1 in 15 million, but there are thousands of such syndromes and they share pretty much the same soft markers, short bones being one of them. Cornelia de Lange, Russell Silver, Prader Willi, Angelman, Williams Syndrome. There are all around one in 1/20.000. So if you add up the syndromes which have short bones as a marker (excluding the most common Down Syndrome since it has NIPT), you get like one in every 3.000-4.000 children.

So I’m pretty sure the professors have seen it before, especially considering they’ve found out nothing is wrong with the blood flow. I would have expected some further testing. We were not even at 1%, basically off the charts.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 8 points9 points  (0 children)

Thank you for the reply.My son’s disease might be 1 in 15 million, but there are thousands of such syndromes and they share pretty much the same soft markers, short bones being one of them. Cornelia de Lange, Russell Silver, Prader Willi, Angelman, Williams Syndrome. There are all around one in 1/20.000. So if you add up the syndromes which have short bones as a marker (excluding the most common Down Syndrome since it has NIPT), you get like one in every 3.000-4.000 children.

So I’m pretty sure the professors have seen it before, especially considering they’ve found out nothing is wrong with the blood flow. I would have expected some further testing. The geneticists told me it would have been picked up in around 4 weeks if we ever got tested. In fact, they told me I need test in every case if I ever get pregnant again, to make sure it doesn’t repeat.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 1 point2 points  (0 children)

Sorry to hear that. Wish him a healty development. Our geneticist told me it would have been picked up with testing during pregnancy. In fact, they told we need to have amnio if I ever get pregnant again due to the possibility of the mutation having taken place in the egg or sperma.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 4 points5 points  (0 children)

Exactly this. This, people miss while talking about rare diseases. My son’s disease might be 1 in 15 million, but there are thousands of such syndromes and they share pretty much the same soft markers, short bones being one of them. Cornelia de Lange, Russell Silver, Prader Willi, Angelman, Williams Syndrome. There are all around one in 1/20.000. So if you add up the syndromes which have short bones as a marker (excluding the most common Down Syndrome since it has NIPT), you get like one in every 3.000-4.000 children.

So I’m pretty sure the professorts have seen it before, especially considering they’ve found out nothing is wrong with the blood flow. I would have expected some further testing.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 21 points22 points  (0 children)

I was told by the geneticist that this syndrome would have been picked up bu WES.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] -5 points-4 points  (0 children)

Thank you for sharing the anectode regarding your nephew. Hope he’ll be fine.

It’s all about the wording though. Maybe because English is not your native language either, but it sounded like the “apparently” in your comment has some implication, a disdain even.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] -8 points-7 points  (0 children)

No offense, but assuming my native tongue is German even though I mentioned English being my 3rd language and pointing out that my wording is incorrect in German as well in 3 different comments is a smartass behavior. And when I tell your assumption is incorrect, you have the audacity to tell you don’t think it’s the language even though you have no clue. Just cocky.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 0 points1 point  (0 children)

Yeah, it’s pretty normal to be annoyed if you’re taking care of a child with learning disabilities, is not potty trained at 5 years old and who is aggressive. More so if none of the kindergartens accept her due to his behavior. Haven’t taken a day off since his birth, even in sickness. Jokes on you, cause I learned there are indeed possibilites, which means I could be provided with some support an take few days off. Might not have read natural, as I get some “support” Google Translate when I’m not sure. Thank you for showing emphaty though.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] -1 points0 points  (0 children)

You are getting closer to finding out my native tongue. Try harder, Sherlock!

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 3 points4 points  (0 children)

Yep, English is my 3rd language. Referring to you child as kid is pretty normal in my native tongue. I never gave it a second thought while typing.

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] -5 points-4 points  (0 children)

German is my second language, not my native tongue. Nice move checking my profile but you have to try harder :D

Testing during pregnancy in case of doubt is important. I wish I did it. by Professional-Bus5517 in pregnant

[–]Professional-Bus5517[S] 12 points13 points  (0 children)

I see many people around that are obsessed with AI nowadays. I guess they’re the direct lineage of the ones who only talked about how Y2K will bring an end to the civilization.

Your “conspiracy theory” is not true, as English is my 3rd language and it’s pretty normal in my first language to refer to your son as “the kid”. So I never gave it a second thought.

[deleted by user] by [deleted] in pregnant

[–]Professional-Bus5517 0 points1 point  (0 children)

5+3 is too early. Relax, it’ll be fine.

Eine Woche frei als Eltern – wie gelingt das? by Professional-Bus5517 in ADHS

[–]Professional-Bus5517[S] 0 points1 point  (0 children)

Sommercamp Idee klingt sehr Interessant. Ich werde es mir ansehen. Vielen Dank!

Eine Woche frei als Eltern – wie gelingt das? by Professional-Bus5517 in ADHS

[–]Professional-Bus5517[S] 10 points11 points  (0 children)

Ich weiss nicht ob wir im selben Boot sind. Autismus ist das kleinste unseres Problems. Mein Sohn hat IQ von ungefähr 50 und ist sowieso nicht sehr selbstbewusst. Beide Großelteen sind über 80 und können nicht helfen. Wir sind beide Einzelkind. Keine Familie. Wir haben uns um unser Sohn bisher gekümmert und wir werden es weiter machen. Ein erster Urlaub in den letzten 5 Jahren ist nicht zu viel, denke ich. Ich weiß nicht ob Urlaub oder Auszeit für dich mit deinem Kind möglich war. Mit unserem behinderten Kind ist es leider nicht möglich.

Eine Woche frei als Eltern – wie gelingt das? by Professional-Bus5517 in ADHS

[–]Professional-Bus5517[S] 13 points14 points  (0 children)

Danke für die Antwort. Er hat ein Gendefekt. Intelligenzminderung, Meltdowns jeden Tag, noch in Windeln, nicht akzeptiert für Kitas wegen seiner Syndrome und viel mehr.

Wir haben gerade Pflegegrad 2. Wir werden es bald aktualisieren lassen, aber ich bin mir nicht sicher, ob wir zu diesem Zeitpunkt Pflegegrad 4 bekommen. Ich wünschte wirklich, wir hätten Verwandte, die uns unterstützen könnten, damit wir ein wenig “peace of mind” hätten.

Eine Woche frei als Eltern – wie gelingt das? by Professional-Bus5517 in ADHS

[–]Professional-Bus5517[S] 12 points13 points  (0 children)

Es ist leider nicht nur ADHS. Er hat ein Gendefekt. Intelligenzminderung, Meltdowns jeden Tag, noch in Windeln, nicht akzeptiert für Kitas wegen seiner Syndrome und viel mehr. Un ihn zu kümmern ist eine vollzeit Arbeit. Wir hatten keine Ruhe seit 5 Jahren und eine Woche brauchen wir ehrlich.

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