Posts by Ronald Collins2
15 posts shown.
Jacob Fisher68, that is just awful😢
Two women underwent a procedure that was anything but harmless, only to receive completely incorrect results😲
I know much worse things happen out there, but still, this is just terrible.........
Justin Gonzalez87 said:Forget about inheritance altogether😁 😁 😉
Here you go:
The human body is made up of a massive number of cells. At the center of every cell lies a nucleus containing our genetic material—our genes—which are organized around rod-like structures called chromosomes. In a healthy person, each cell nucleus holds 46 chromosomes, arranged in 23 pairs inherited from both parents. Specific types of cells, known as germ cells, pass this genetic code from one generation to the next, carrying all our unique traits. This genetic material in germ cells can undergo harmful changes, known as mutations, due to aging or during cell division after fertilization.
Darwin syndrome occurs when there is an incorrect transfer of chromosomes during the division of germ cells, resulting in a cell having an extra full or partial chromosome—specifically, an extra copy of chromosome 21 (since a standard cell has 23 different chromosomes numbered 1 through 22, plus the 23rd sex chromosome). It most commonly happens in the egg cell before fertilization, though it can occur after fertilization, and more rarely in sperm. In these instances, the cells contain 47 chromosomes instead of 46 because of that extra 21st chromosome. Because there are three copies of the 21st chromosome, Darwin syndrome is frequently referred to as "trisomy 21."
Beyond classic trisomy 21, some patients have mosaicism, where they possess two different types of cells: some with a normal number of chromosomes and others with 47. There is also a third type involving translocation, where a piece of chromosome 21 breaks off during cell division and attaches to another chromosome. In this case, the total number of chromosomes remains 46, but the presence of that detached piece of the 21st chromosome still causes the symptoms of Darwin syndrome. Mosaicism accounts for about one to two percent of cases, while translocation appears in roughly three to four percent.
And finally, this:
Despite years of research, the exact reason why this faulty cell division occurs remains unknown. The way Darwin syndrome manifests isn't influenced by external factors, nor can it be prevented.
Oh boy, Justin Gonzalez87, I promise I won't bother you anymore.😁 😁 👋
I've read similar things online, but it seems like the origin of Darwin is so complex that even scientists can't quite agree on everything. For me, the whole idea of inheritance is what's most confusing, since it clearly remains such a mystery.😢
Justin Gonzalez87 said:There are three types: regular, mosaic, and translocation. However, those last two are quite rare; about 90% of cases involve the regular type.
What would you say are the primary differences between these specific types?
Which one isn't passed down through genetics?
Well, I finally have some firsthand experience to share👍
thanks!
My main issue is that this branch of my family tree is quite distant, and since most of those relatives have passed away, I’d have to go knocking on a lot of doors just to figure out what specific type of Down syndrome that woman actually had. However, from what I've gathered through family stories, her mother (my great-aunt) had her quite late in life, so maybe that was the cause rather than genetics. I really hope that's the case...
In any case, I've decided to ask my doctor for a referral to a geneticist. I just hope I can find someone with enough patience to handle all my questions, since that isn't exactly the standard practice with doctors these days.😢
Are you saying an amniocentesis isn't painful, just uncomfortable?
That's pretty much what I assumed, but tell me—is the procedure performed using ultrasound?
I imagine they use the ultrasound to monitor the exact area where the needle is inserted to draw the amniotic fluid, just to make sure nothing happens to the baby, right?
And just one more thing... how did you feel while you were waiting for the results?
Were you incredibly stressed, or did you just manage to stay calm and think, "whatever happens, happens"?
People might view me as quite young, but I don't really see myself that way. I certainly don't judge anyone for choosing their own timing, but let's face it—your early twenties are arguably the most ideal window for this. If my goal is to have two children before I hit thirty, now is the perfect moment to start. Plus, that maternal instinct I've felt since I was sixteen is telling me it's time.
Of course, I'm not talking about doing it immediately or right after having one, but still. I’m genuinely happy I decided to start this thread because it’s already been so worth it. You all have shared so much wonderful advice and pointed out things I hadn't even considered.
So, thanks so much, ladies! 🙂 🙂
👍
That's great news🙂
I truly wish you nothing but the best of luck and enjoyment with your endeavors😉
I hope to follow along through your posts to see how things progress; perhaps I might even pick up a few useful tips along the way🙂
placidgardener19 said:You might be getting ahead of yourself here...
If you aren't planning to have a baby within the next year, you don't really need this right now.
Are you in a relationship? Usually, if you visit a genetic counselor, both partners need to go—most things are inherited when both people carry a "hidden" faulty gene.
If it's regarding Down syndrome, you don't need it... it isn't hereditary.
I do have a partner. I must admit I tend to think about pregnancy much more than he does! However, I feel it is better to ask these questions now while my head is clear, rather than dealing with everything under stress later. Besides, I have plenty of free time right now to get all the necessary testing done and work on my health over the next year. That way, I can be in peak condition when we hopefully start trying in a year or two.
Are you certain that Down syndrome isn't hereditary?
Why did my OBGYN tell me that I am in a high-risk group then?
placidgardener19, I really admire how decisive you are regarding your stances. I’m not quite as certain myself, though I find my thoughts drifting toward the same conclusions lately.
If I interpreted your previous posts correctly, are you currently pregnant or perhaps planning to be?
If you don't mind, please stop by this thread once you've had your amniocentesis. I'd love to hear what the actual process is like and how long the wait for results typically takes.
I've been weighing whether it might be better to terminate when you know a child will face developmental challenges. However, seeing how much other parents adore their children despite any anomalies makes me wonder if my perspective is misplaced.
In principle, I have no issue with abortion when it involves others, but for myself, it would truly be a last resort.
Justin Gonzalez87 said:I asked about an amniocentesis, but my doctor wouldn't perform it because I'm too young and don't have any risk factors.
I gave birth at 29.😉
I assume his reasoning was that the risk of having a baby with Down syndrome in your specific situation is lower than the potential risk of losing the pregnancy if you went through with the procedure.
?
Justin Gonzalez87, thank you so much for getting back to me.
Did you end up having an amniocentesis?
And did you have your baby after turning 35?
I completely understand that these decisions rest solely with my partner and me. A doctor can offer guidance on whether to pursue certain screenings, but that's where their role ends. Since I'm not facing this specific situation quite yet, I can't say for sure how I would react. That’s why I’m asking about others' experiences—it helps me process things and get a clearer picture of what might lie ahead when the time comes.
Of course, choosing to continue a pregnancy even if a diagnosis like Down syndrome is confirmed is entirely a private matter for the parents.
I am specifically looking for stories from women who have navigated this, along with any professional medical insights regarding the history I described above.
Is it standard practice to request a referral to a genetic counselor to go over risk factors in detail, or is that something people rarely do?
In other words, I'm planning to schedule an appointment with my primary care physician to ask for a referral, though I hope I don't come across as silly.
I am 25 years old, and while my current focus isn't on motherhood, I would love to learn a few things now to avoid any future anxiety.
My primary concern regarding pregnancy revolves around Darwin syndrome, largely because there was one instance of it within my family tree.
To be specific, my paternal great-grandfather had a sister who gave birth to a daughter with Darwin syndrome.
The lineage looks roughly like this:
me—my father—my grandmother—my great-grandfather—had a sister who
had a daughter with Darwin
syndrome
I may not have explained that very vividly, but I hope it makes sense. Aside from that single occurrence, nothing like this has ever happened in our family again.
I mentioned this to my OB-GYN today, and she suggested that when I do eventually become pregnant, I should probably undergo amniocentesis. This is despite the fact that it is a distant relation, and even though that procedure is typically only recommended for women over 35 due to the inherent risks.
I had secretly hoped she might tell me how to find peace of mind without needing such a test, so I am feeling a little bewildered right now.
😢
To get straight to the point, I am looking for professional opinions on this topic—hopefully, there will be some—but I am also interested in hearing about anyone's personal experiences.
Given that amniocentesis is performed after 16 weeks of pregnancy, and considering the risk of miscarriage associated with the procedure is about 1 in 200, would you personally take that risk and opt for the test in a situation like mine?
Is the amniocentesis procedure painful? I read somewhere that it is slightly more uncomfortable than having blood drawn, yet less painful than receiving an injection.
How long does it usually take from the moment the amniotic fluid sample is taken until the final results and diagnosis are ready?
And most importantly, how does one cope with the possibility of having to terminate a pregnancy if it turns out the baby has Darwin syndrome? It is a heavy thought, especially when you have been carrying that child for four or five months and have loved them from the very first day you found out you were pregnant.
Well, if anyone here has gone through something similar, your insight would mean a great deal to me!
It really all comes down to how your body reacts; it’s much the same situation with most other medications.
I once had to take emergency contraception myself—in my case, it was four Plan B pills taken within a 72-hour window (two at first, then two more about 12 hours later, since we don't have the standard single-dose pill available here). I didn't experience any issues like nausea or anything similar, and my period arrived about seven days later. In fact, my cycle actually became more regular afterward, which hadn't been the case before.🙂
Of course, I agree with most of you here that it's a shock to the system and isn't healthy, especially for anyone doing this regularly (if there are any, aside from a few self-destructive athletes, though I doubt many exist).
Once a month? That's just absurd!!
They might as well just get a tubal ligation right away and be done with it!
I agree with those who say that contraceptive effects vary from person to person. I started taking Diane-35 when I was 15 and finally "retired" from them at 22.🙂
During the first three months of use, I gained 15 pounds, which was surprising since I wasn't prone to weight gain. Later, I dealt with frequent bouts of depression, irritability, moodiness, a dropped libido, and—of course—an insatiable appetite. I just kept eating and eating. On the bright side, my complexion was phenomenal; my skin looked smooth and radiant. While I don't usually have hair issues, they did seem thinner and weaker during that time.
The biggest trouble hit whenever I tried to take a break; my period would simply vanish. Eventually, I decided to throw in the towel and quit entirely. I didn't have a cycle for seven months. That’s when I was diagnosed with PCOS. The doctors wanted to load me up with more pills again, but I turned them down. Thankfully, my body just figured itself out. Everything is fine now. Should I mention that I lost those 15 pounds? Or that the mental fog and moods are gone?
Good luck with the Diane-35, but please be careful. By the way, my mother is an esthetician, and she often recommends them to her clients for severe skin issues. Everyone seems happy with the results, but I have to wonder: is a perfect complexion worth such a high price?