#trisomy

[botwif]

Breaking Negativity & Beyond Expectations: Lets now focus on the best reasons why we love people with Down Syndrome & why they should not be under estimated or dismissed

We love you !!!! Every individual, regardless of their abilities or disabilities, brings unique qualities and perspectives to the world. In this blog, we will explore the remarkable qualities and positive aspects of people with Down syndrome. By shedding light on these wonderful attributes, we hope to foster a deeper understanding, appreciation, and inclusivity for individuals with Down…

[neonatalresearch]

What Sick Babies Can Teach Us

As usual for a TED talk this is 18 minutes long, and, in that brief time, Annie recounts her trajectory: learning from families of kids with trisomy 13 and trisomy 18; our own experience with counselling for threatened extreme preterm birth, from both sides of the conversation; and the Parents Voices Project. The only thing I don’t like about this video is the still that was chosen by their…

[amygolden1104]

So, I've seen in the comments some confusion over whether or not this comment is ableist ; so I'm bringing my medical knowledge in it ! Sorry if this is long, but at least this way you can back up your arguments with scientific knowledge. If you don't want to know all the details, just go to the last paragraph for my conclusion.

For me personally, it's not ableist if you're talking about the person in itself. 22 out of 23 pairs of chromosomes means you won't be born. It's not a matter of disability ; you won't exist at all in the first place. Can't we at least laugh about imaginary, ridiculous situations ?

That's the first case I'm going to talk about : if the picture was about someone doing a chromosomal test of themselves.

You have a chance of survival if it's 45 out of 46 chromosomes though, that's monosomy, although the only way to survive it is if it's Turner syndrome. In genetics you find it written as 45,X (if there were no abnormalities, you would have it written as 46,XX or 46,XY). You can't have 44, no ifs or buts.

Turner syndrome happens when there's only one viable chromosome X ; the second one is either absent or incomplete in some form. Depending on the state of that second chromosome, and how much genetic information is still present on that second chromosome, the person will have more or less severe symptoms.

You have better chances of surviving if it's trisomy. That means 47 chromosomes rather than 46. The ones that are viable are trisomy 21 (Down syndrome, the one most people know), 18, 13, and the different possibilities on the sexual chromosomes (47,XXY ; 47,XYY ; 47,XXX).

There's a third option : mosaics. Basically, those people are a mix of monosoic, trisoic and normal cells. But, since only 45,X is viable, if the anomaly is on another pair of chromosome, then when those people are born it's found out that they're only a mix of normal and trisomic cells. All the monosoic ones are gone.

But, what if you're a pregnant person doing a genetical test of your unborn child ?

So if you're a parent doing a genetical test for your unborn child, yeah, it's bad, because you're being told that you're going to miscarry early in your pregnancy, as in, first semester. You may have miscarried before even realising you're pregnant. As I said, 44 chromosomes is just not viable for anyone.

Furthermore, genetical counseling this early is rare (actually, that kind of genetical counseling is rather rare, period), unless the parent had a previous history of miscarriages or the obstetrician or whichever doctor is in charge during the pregnancy noticed something abnormal during the screening tests for potential abnormalities.

This means, when the parent meets up with the geneticist, they're already aware that something's wrong with their pregnancy. If they've miscarried before, it's even worse, they felt loss before and obviously felt strongly about it, if they're still trying to have a child. You're telling them they're going to lose their unborn child before even giving birth, again.

To resume the situation : 22 out of 23 pairs (44 out of 46) of chromosomes means you're dead before even being born. If you're talking about yourself, it can be seen as so hilariously false (either because of the impossibility of it, or if you were trying to mock people with chromosomal disabilities, because you were too stupid to even get your facts straight). If you're talking about someone who's pregnant and their unborn child, then in that case, you're being cruel and going right to hell.

[pathologylab]

#NIPT is an advanced and non-invasive genetic #screening test that is done from the 10th week onwards of gestation to assess the risk of certain #chromosomal abnormalities in the developing #fetus. The test is also known as cell-free DNA testing or cf-DNA #testing. During the test, 10 ml of maternal #whole blood is taken and from it, the placental derived cell-free fetal #DNA is extracted which is then sequenced utilising the NGS (Next generation sequencing) technology. #Genes2Me’s LeoNext cf-DNA Library #Preparation Kit for NIPT is used for detection of common #trisomy using next generation sequencing. For more details, Call us at +91-8800821778 or drop us an email at social@genes2me.com #g2m #cell #noninvasive #nextgenerationsequencing #system #devices #genetic #kit #clinical

[tenth-sentence]

But within a year the abnormality was demonstrated to be indeed a trisomy – of the chromosomes designated No. 21 by agreement at a genetics conference in Denver, Colorado, in April 1960.

"In the Name of Eugenics: Genetics and the Uses of Human Heredity" - Daniel J. Kevles

[peachteasoda]

I still harbor this negative core belief deep inside, that “I must present as 100% every day” I’m so glad I found this post. This is a lovely gentle reminder to those that relate or need a nudge that’s it’s okay to let down the cascade of: “I’m fine”, “I don’t need help” “I don’t want to be a burden/a burden to others”.

Those above are mostly my inner thoughts. I’ll go print this out and frame it right now.

I don’t remember what 100% feels like!

[clarymeadowsalpacas]

Welcome Holly to our home - Clara has her first horse ! Thank you Carley and Summer for making her dream come true! #horse #pony #firsthorse #alpacafarm #derby #derbyshire #farm #trisomyx #trisomy #autistic #autism #horseriding #horselove #horses #horsegirl #bestfriends #farmlife #autismawareness #learning #happy #smiling #newbeginnings #horserider #happybirthday #horsephotographer #horsesofinstagram #peakdistrict #southderbyshire #clarymeadowsalpacas #clarymeadowsequinestud (at Derbyshire) https://www.instagram.com/p/Cp9l1cYsWoh/?igshid=NGJjMDIxMWI=

[cheerfullycatholic]

A study published in the American Journal of Medical Genetics has revealed that the median survival time for babies born alive with Trisomy 13 has nearly doubled from three months to six months, and that one in three babies with the condition are currently surviving for more than a year after birth. Coinciding with this increased lifespan trend is an increase in the rate at which patients with Trisomy 13 are undergoing surgery. That rate rose from 16% in the years 1996-2008 to 28% in the years 2009-2021. Researchers explained that “because of the poor prognosis” that babies with Trisomy 13 often receive, they are typically not provided with aggressive treatment or necessary surgeries that would help them live longer. It has been found that babies who do receive these treatments live longer than those who don’t. ... Vicky Wall, the mother of a baby girl named Líadán, who was diagnosed with Trisomy 18, said that this study proves that many doctors are “behind the curve in terms of new developments” in the care of children with Trisomy 13 and Trisomy 18. She argued that the new research highlights a need for a change in mindset regarding children with these conditions. “I have spoken to so many families who say they felt belittled, rejected, and ignored because their unborn baby was diagnosed with Trisomy 13 or 18,” she said. “They say they were offered no hope, that they were pushed towards abortion, that when they asked what could be done for baby after birth they were made to feel they were being ridiculous. It’s shameful, and it has to stop.”

[soundlessdragon]

Reminder that your life matters even if you are disabled or diagnosed with a terminal condition.

[botwif]

Breaking Negativity & Beyond Expectations: Lets now focus on the best reasons why we love people with Down Syndrome & why they should not be under estimated or dismissed

We love you !!!! Every individual, regardless of their abilities or disabilities, brings unique qualities and perspectives to the world. In this blog, we will explore the remarkable qualities and positive aspects of people with Down syndrome. By shedding light on these wonderful attributes, we hope to foster a deeper understanding, appreciation, and inclusivity for individuals with Down…

[intersex-support]

hello! i display a lot of the symptoms of having trisomy x and would like to find out for sure if i'm intersex or not, but afaik the only way to know for sure is to get a karyotype and i'm terrified of the medical discrimination i might face as a result of doctors knowing i'm intersex. is there any other way for me to find out but still have my doctor not know? or am i just overreacting (especially since most other intersex people don't get the choice of finding out or not)?

Hi anon!

I think it's totally understandable that you have a lot of fear about trying to navigate the medical system as a potentially intersex person. It can be really difficult to have to deal with the amount of discrimination we face when we're seeking a diagnosis and existing as an intersex person in the medical system. It's fucked up that we have to think through all these things when we're seeking care, instead of just being able to trust that we would receive compassionate and respectful care that honored our autonomy.

Unfortunately, I don't think there is any way for you to confirm a Trisomy X diagnosis without getting a karyotype/chromosomal microarray, just because there really is no other way to confirm what chromosomes you have. However, I think there are some ways that you could navigate it that might make it a little easier to avoid some kinds of discrimination.

This information is all based on the US healthcare and insurance system because that's what I have direct experience with, but feel free to send another ask if you live somewhere else and we can brainstorm some ideas for your health system.

My first thought is that if you want a diagnosis but don't want to impact the rest of the medical care you receive, you might be able to see a separate genetic counselor that's not linked to the rest of your medical record and medical care. There are a lot of services that do telehealth genetic counseling such as Genome Medical, and if they take your insurance, you might be able to get testing set up through them but not have it show up on the rest of your medical record. The nice thing about this is that you only have to deal with the telehealth clinician a few times and then get to choose whether or not you want to disclose this information to any future providers you see, and you don't need to have this information in your medical record if you don't want to.

If that's not an option but you have a PPO or POS health insurance plan where you can see any preferred network providers without referrals, you might be able to go to a separate genetic counselor that is part of a different hospital or clinic than where you normally receive care.

If your health insurance is an HMO plan where you have to get PCP referrals and can only see in network providers, that might make it difficult to seek care that isn't linked to your medical record. If this is the case but you're still interested in seeking a diagnosis, it might be worth brainstorming some things that would make you feel safer through the process. This could look like bringing another supportive person with you who could help advocate for you, preparing scripts for how you want to advocate for yourself, seeking out information about your rights as a patient, asking other intersex people for doctor recommendations, bringing in the "What we wish our doctors knew" brochure from InterACT. I won't lie, having an intersex variation on your medical record can make seeking medical care more complicated, but I think it can be slightly easier to navigate when you're a teen or adult who has more autonomy over their care, can consent to things, switch providers more easily, and has more of a say in their care.

If any followers have any other innovative ideas about how to seek diagnosis, feel free to add on.

Ultimately, the choice about whether to seek a diagnosis or not is always up to you. You're the expert on your own experience and know what would feel right for you at this point in your life. I don't think you're overreacting or being silly, and I wish things were different and it was easier for you to seek a diagnosis.

Truly wishing you the best of luck, anon.

[jellogram]

I feel like part of the problem with disability representation is that frequently, only the people on one end of the spectrum are able to participate. Which leads to all the representation being of people on one end of the spectrum, which leads to unrealistic and unhelpful ideas about the disability.

Case in point: all the actors, influencers, etc that you see who have Down Syndrome most likely have mosaicism. This is the most mild type of the condition and only accounts for 1% of people with Down Syndrome. Most people with Down Syndrome are not able to maintain jobs or live on their own, but people mosaicism often can. But because people who don't know anyone with Down Syndrome in real life only see folks with mosaicism represented, they can end up with an inaccurate idea of Down Syndrome and its effects. This can lead to unrealistic expectations on the other 99% of individuals, and the families who need support in caring for them.

This doesn't mean the mosaicism representation is bad or wrong. It's still way better than no representation at all, and it's great for folks with that version of the condition. But it bothers me when people see that 1% of folks with Down Syndrome and assume that's all Down Syndrome is.

[tomorrowusa]

A reminder that Republicans reserve the right to police reproductive systems.

A Texas woman who had sought a legal medical exemption for an abortion has left the state after the Texas Supreme Court paused a lower court decision that would allow her to have the procedure, lawyers for the Center for Reproductive Rights said Monday.  State District Judge Maya Guerra Gamble last week had ruled that Kate Cox, a 31-year-old mother of two from Dallas, could terminate her pregnancy. According to court documents, Cox's doctors told her her baby suffered from the chromosomal disorder trisomy 18, which usually results in either stillbirth or an early death of an infant.  As of the court filing last week, Cox was 20 weeks pregnant. According to the Center for Reproductive Rights, which brought the lawsuit, Cox left the state because she "couldn't wait any longer" to get the procedure. "Her health is on the line," said Center for Reproductive Rights CEO Nancy Northup. "She's been in and out of the emergency room and she couldn't wait any longer." In response to Gamble's decision, Texas Attorney General Ken Paxton warned a Texas medical center that it would face legal consequences if an abortion were performed.  In an unsigned order late Friday, the Texas Supreme Court then temporarily paused Gamble's ruling.  On Monday, after Cox left the state, the state Supreme Court lifted the pause, dismissing it as moot, and overturned the lower court ruling that had granted Cox's request. 

Fortunately Ms. Cox had the option of traveling to another state to have the procedure. A future US Supreme Court packed with MAGA judges could further restrict abortion nationally.

ALL of the current GOP candidates for president would choose anti-abortion judges for the US Supreme Court. And a GOP Senate would confirm them. Remind anybody considering voting for an impotent third-party candidate who has no chance of winning.

[possible-streetwear]

[cheerfullycatholic]

“People look at Pierce and might see brokenness,” said Henry. “But he doesn’t feel broken… We just have to do things differently. You don’t have to walk to live. That’s our big family motto. That’s our prayer for Pierce, that he would always live that abundant life.”