🤝 Community Tard Baby General (includes brain dead kids) - Fundies and their genetic Fuckups; Parents of corpses in denial

[Tybalt The S@ucy B0y]

Speaking of rare genetic disorders we wish we could have lived without knowing

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Wow I really wish I didn’t know about holocephaly. I’d seen cyclops babies before but didn’t know the name for it.
The eyes on the middle one will probably chase me in a nightmare tonight.
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Allow me to introduce you to Roberts syndrome

[Ok so I can't embed photos from any device at my current location, unfortunately there will be no spoilers. You have been warned. I am very sorry.]

Spoiler: nerdfagging

Roberts Syndrome (aka pseudothalidomide syndrome or tetraphocomelia) is a disorder caused by a mutation in the ESCO2 gene on chromosome 8. It disrupts cell growth and division, specifically by causing "puffing" in the centromeres, or the glue that holds chromosomes together. This causes arms and legs to be shortened, facial deformities, bone loss, etc. Autosomal recessive. So rare the condition is not known, but a few years ago I read that there were supposedly 250 known cases of Roberts syndrome in the world.

In the images, you see we have some glorious examples of cleft lip, cleft palate, bilateral cleft lip, phocomelia (shortened limbs). Oh, and that weird drawing? That's an 18th century study of a stillborn with Roberts syndrome.

Spoiler

 

[Android raptor]

Speaking of rare genetic disorders we wish we could have lived without knowing


Allow me to introduce you to Roberts syndrome

[Ok so I can't embed photos from any device at my current location, unfortunately there will be no spoilers. You have been warned. I am very sorry.]

Spoiler: nerdfagging

Roberts Syndrome (aka pseudothalidomide syndrome or tetraphocomelia) is a disorder caused by a mutation in the ESCO2 gene on chromosome 8. It disrupts cell growth and division, specifically by causing "puffing" in the centromeres, or the glue that holds chromosomes together. This causes arms and legs to be shortened, facial deformities, bone loss, etc. Autosomal recessive. So rare the condition is not known, but a few years ago I read that there were supposedly 250 known cases of Roberts syndrome in the world.

In the images, you see we have some glorious examples of cleft lip, cleft palate, bilateral cleft lip, phocomelia (shortened limbs). Oh, and that weird drawing? That's an 18th century study of a stillborn with Roberts syndrome.

Aren't similar deformities caused by thalomide? Or is that the same thing?

I remember earlier ITT someone posted about an early abortion rights case where a lady who was a US children's TV presenter had to abort a wanted pregnancy after finding out thalomide causes horrific, fatal deformities (iirc she took it while vacationing in Europe before it was recalled there). This was in the 50s or 60s, so she had to go overseas to get the abortion and was treated as a monster for it.

It's sad how little shit has changed in over half a century.

 

[Flourishing Pinecone ❧]

Aren't similar deformities caused by thalomide?

yes they said it's called pseudothalidomide

 

[Melankia]

yes they said it's called pseudothalidomide

thought you were fucking around and it really is (Link)

 

[Fiat Lux XOXO]

Paisley's mother is back to selling Monat... after calling it spammy and alluding to their unethical ways...

 

[Rudy]

At least we can have some small satisfaction in watching her hair fall out. It looks like Monat is working its magic by her hairline.

It’s a small victory

 

[Android raptor]

At least we can have some small satisfaction in watching her hair fall out. It looks like Monat is working its magic by her hairline.

It’s a small victory

Hopefully she keeps it the hell away from her medically fragile child.

 

[booklover]

His teeth remind me of Martin L. Gore's dental glow up after Depeche Mode hit the big time.

Spoiler: the Gore before

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Spoiler: Gore with the biggest, whitest teeth money can buy

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Can't really blame Martin. He's British and a rock star. I'm afraid my estimation of SBSK Chris is not so kind.

You should see pictures of Neil Peart from early Rush days, and later in his career. Somewhere along the way, he too obtained the services of an orthodontist.

RIP, Neil.

Regarding Roberts syndrome or "pseudothalidomide": I've seen the picture of the boy with the full head of hair, and assumed it was from thalidomide exposure. I can tell now that the picture is way too old for that, because thalidomide wasn't invented until the 1950s.

The TV host who had to go to Sweden to get an abortion was named, at the time, Sherri Finkbine. (She later divorced and remarried, and AFAIK is still living.) Her then-husband, who traveled for work had heard about a wonder drug called thalidomide, which was available without a prescription at one of his destinations, that had many uses, a non-addictive sleep aid and morning sickness remedy being two of them, and she took several of those tablets before finding out how hazardous they were. She had no way of knowing if her baby was deformed (it was - serious reduction of 3 limbs, IIRC and other organ issues). This all happened in 1962.

This was not the only thing that led to the demise of her marriage, but it contributed.

 

[Flourishing Pinecone ❧]

Not sure if it's been discussed here before, but the history of thalidomide is quite interesting when it comes to why it managed to not get onto the US market - basically it was stopped by one woman at the FDA who was concerned about the safety of the drug.
It was already approved by many countries at this point and there was a lot of pressure from the manufacturer to approve it.

It's still in use today, usually for multiple myeloma and the capsules have an hilarious "no preggos" images on them

The Shadow of the Thalidomide Tragedy | Retro Report | The New York Times

In the 1950s, thalidomide cut a wide swath of destruction across the world, leaving behind thousands of deformed infants, but that was only the beginning of ...

youtu.be

This 12min NYT video is a (relatively) short discussion on the history.

 

[Thomas Eugene Paris]

It's still in use today, usually for multiple myeloma and the capsules have an hilarious "no preggos" images on them

Thalidomide has also been investigated for the treatment of relapsed or refractory neuroblastoma, a particularly nasty childhood cancer. The NCI sponsored a phase II pilot study of thalidomide plus temozolomide (Temodar) in children with relapsed/refractory neuroblastoma or primary CNS tumors with no available curative therapies in the early 2000s.

The concept of using thalidomide as an anti-angiogenesis therapeutic strategy makes theoretical sense and is supported by in vitro study results. Unfortunately, as you can see from the results of the trial linked above, none of the 15 children who participated achieved a complete response (disappearance of all detectable tumors by imaging, if initially positive, as well as 2 consecutively negative CSF cytologic examinations,if the initial cytology was positive) and only 1 had a partial response (> 50% reduction in the sum of the products of the maximum perpendicular diameter of all measurable lesions; or 2 consecutively negative CSF cytologies and a < 50% reduction in tumor size). While 15 patients enrolled in the trial, only 6 completed the full 6 months of treatment. Of the 9 children who did not finish the trial, 6 had progressive disease and 2 had severe toxicities necessitating their removal from the study.

This doesn't necessarily mean that thalidomide is a bad treatment strategy. First, 15 patients is barely enough for statistical significance. Second, the eligible patient cohort had an absolutely dismal prognosis, and sometimes stable disease is the best outcome one can realistically expect. A clinical trial, especially a phase I or a pilot study, will probably not cure any of the patients who are enrolled. The goal is to provide data to help doctors make better decisions about treating future patients. Generally, enrolling in a phase I or phase II trial is an indication that a patient has exhausted all available treatment options. Experimental data do indicate that thalidomide increases the efficacy of cytotoxic drugs on mouse cells. The problem is translating that finding to something that actually matters for patients, especially kids. We are not there yet, but massive progress has been made even since the thalidomide/temozolomide trial results were published in 2014.

 

[Flourishing Pinecone ❧]

This doesn't necessarily mean that thalidomide is a bad treatment strategy. First, 15 patients is barely enough for statistical significance. Second, the eligible patient cohort had an absolutely dismal prognosis, and sometimes stable disease is the best outcome one can realistically expect. A clinical trial, especially a phase I or a pilot study, will probably not cure any of the patients who are enrolled.

Thank you for sharing this! What you've said here is really the crux of why to take it with a grain of salt, when your kid has such a poor prognosis and likely failed first few lines of therapy you'd give it a go but the odds aren't in your favour that you'll find the magic bullet (and from the anecdotal evidence of my experience, patients that enrol in these trials not to find a cure for themselves, but to hopefully help others in the future).

Also with the small cohort, as you've mentioned before, children's brain cancer doesn't have huge numbers to begin with, which is why it's not a sexy (money making) objective for drug companies. So getting enough power must always be a real challenge.

On a total side note, have you ever hear of the Australian Neurosurgeon Dr Charlie Teo? He is highly maligned by the medical community there (so much so that he no long has any visiting rights at any hospitals, public or private), one of the reasons being he operates on desperate people, including children, who have been advised that their tumours are inoperable.
Notably he offers surgical resection for DIPG (diffuse intrinsic pontine glioma) which, by it's very nature, cannot be resected. The outcomes have been very poor and merely delayed death, often with added significant disability.

This 60 Minutes episode picked some cases, and then somewhat bizarrely the next day the same network did interviews to let him defend himself.

 

[GenociderSyo]

It also seems it can be helpful in Leprosy.

 

[Android raptor]

So tl;dr thalidomide has uses, but should never, ever be taken if you're pregnant?

 

[GenociderSyo]

So tl;dr thalidomide has uses, but should never, ever be taken if you're pregnant?

Yep. It's a blackbox drug.

 

[Thomas Eugene Paris]

So tl;dr thalidomide has uses, but should never, ever be taken if you're pregnant?

Yes, exactly. I read a blog written by the mother of a child who had refractory neuroblastoma. At the end of her life the child received thalidomide off-label (for a purpose other than what it's FDA approved for) as part of a "kitchen sink" strategy to slow the relentless onslaught of disease. They had to sign documents ensuring the child, who was 9, wasn't planning to get pregnant. She died soon afterwards.

 

[Aunt Carol]

So tl;dr thalidomide has uses, but should never, ever be taken if you're pregnant?

"As long as there aren't any flipper babies."

 

[booklover]

Not sure if it's been discussed here before, but the history of thalidomide is quite interesting when it comes to why it managed to not get onto the US market - basically it was stopped by one woman at the FDA who was concerned about the safety of the drug.
It was already approved by many countries at this point and there was a lot of pressure from the manufacturer to approve it.

It's still in use today, usually for multiple myeloma and the capsules have an hilarious "no preggos" images on themVer archivo adjunto 3926268

The Shadow of the Thalidomide Tragedy | Retro Report | The New York Times

In the 1950s, thalidomide cut a wide swath of destruction across the world, leaving behind thousands of deformed infants, but that was only the beginning of ...

youtu.be

This 12min NYT video is a (relatively) short discussion on the history.

People who are on this must file with a registry every month before refilling their prescription, as must the doctor and pharmacist. I did this many times when I was a practicing pharmacist, and we also did the same thing with isotretinoin, FKA Accutane. There are some other very hazardous drugs that fall under similar protocols.

The thalidomide package was a card with 28 capsules on it, and when you opened it up, it had a picture of a thalidomide baby in it to illustrate what could happen if a pregnant woman took it. If you scroll down a ways, you can see it, although ours wasn't fuzzied, and was published with her permission.

What is thalidomide? | Thalidomide

History and description of the thalidomide drug, that caused a worldwide wave of birth defects cases in the 60s.

thalidomide.ca

My aunt had, and died from, an autoimmune disorder of the blood vessels, and she was using thalidomide CREAM for some of the skin symptoms. It had to be compounded by a specialty pharmacy, and a little jar cost about $1,000.

Yes, exactly. I read a blog written by the mother of a child who had refractory neuroblastoma. At the end of her life the child received thalidomide off-label (for a purpose other than what it's FDA approved for) as part of a "kitchen sink" strategy to slow the relentless onslaught of disease. They had to sign documents ensuring the child, who was 9, wasn't planning to get pregnant. She died soon afterwards.

It's believed to, among other things, inhibit the formation and growth of new blood vessels.

Geraldine Ferraro took it in the years preceding her own death, from multiple myeloma.

 

[Android raptor]

On the flip side, any insane munchie fundie types looking to create an abomination to show everyone how life-affirming&Christlike they are have a surefire way to do it, at least if they can get ahold of thalidomide.

 

[MirnaMinkoff]

On the flip side, any insane munchie fundie types looking to create an abomination to show everyone how life-affirming&Christlike they are have a surefire way to do it, at least if they can get ahold of thalidomide.

Probably to just get a case of rubella/ German measles and get a similar outcome. Finkbane and Thalidomide got American women thinking about abortion but the 1964-65 rubella outbreak got them to realize it could happen to any pregnant woman. 2,000 babies died and 20,000 were born with congenital rubella syndrome. (CRS)

Rubella exposure was probably worse because of all the brain damage, mental retardation, blindness, deafness, etc…One of the “wrongful birth” lawsuits that sprang from a woman suing her doctor after her baby was born with CRS was instrumental in abortion finally becoming legal here. She went to the doctor worried she had been recently infected rubella and then found out she was pregnant. She asked the doctor to be tested for rubella antibodies, he lied and said he did and she was just fine. Don’t worry your pretty little head. Her daughter was born severely brain damaged, blind, deaf and paralyzed because she did have rubella and her baby has CRS.

 

[booklover]

I grew up with several families who had a child who was deaf and/or blind due to prenatal rubella exposure, although none of these people were disabled in other ways. This is something that doesn't have to happen nowadays, and rubella is especially dangerous because people can have it and not know it.