A mystery illness stole their kids’ personalities. These moms fought for answers.

Their children’s decline was precipitous and dramatic, with patients losing function in days or weeks, including the ability to talk, move or take care of themselves.


Interesting and worth reading. Treatments are IVIG and tofacitinib.


https://wapo.st/3yi1a3R

 

Why is this issue not more widely know?

 

Oh wow, @Jaybee00 what an amazing story, thanks for sharing!

Those moms and a couple of clinicians actually trying to help their children against medical prejudice and actually winning

 

Because it involves people with Down Syndrome, the answers in the article when you’re already disabled the medical profession doesn’t care to ask why when you lose your health

 

I can’t remember who this was but a doctor who I think was a paediatrician, had a daughter with Down Syndrome and because she was very familiar with physical functioning in infancy she became very worried early on about her daughters muscle tone, which was poor, as is often the case with people with DS, to the extent that she really couldn’t feed properly.

So this mother started treatment for her daughter with Thyroid replacement hormone. This when either her daughter hadn’t tested sufficiently low in the range to usually be prescribed it, or she had and her mother had given her slightly more than the usual dosage, I’m pretty hazy on all this.

However in any event her daughter was given very low doses, but it made the difference and she could feed and her muscles grew stronger. Her mother kept up her treatment and at ten years old her physical condition was far better than the majority of her peers with DS.

Her mother meanwhile had begun treating many other children with Down Syndrome who she reported were having better outcomes with physical strength and cognitive processes post treatment with thyroid replacement.

Her theory was that pretty much all of the health challenges for people with DS could be treated for children, but weren’t because doctors had written them off as hopeless cases and so weren’t looking into options. But with her child at risk of poor health she was motivated to work on these issues.

 

A great read thank you @Jaybee00. Referenced consensus paper for Down Syndrome Regression Disorder is —

Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus (2022)
Santoro, Jonathan D.; Patel, Lina; Kammeyer, Ryan; Filipink, Robyn A.; Gombolay, Grace Y.; Cardinale, Kathleen M.; Real de Asua, Diego; Zaman, Shahid; Santoro, Stephanie L.; Marzouk, Sammer M.; Khoshnood, Mellad; Vogel, Benjamin N.; Tanna, Runi; Pagarkar, Dania; Dhanani, Sofia; Ortega, Maria del Carmen; Partridge, Rebecca; Stanley, Maria A.; Sanders, Jessica S.; Christy, Alison; Sannar, Elise M.; Brown, Ruth; McCormick, Andrew A.; Van Mater, Heather; Franklin, Cathy; Worley, Gordon; Quinn, Eileen A.; Capone, George T.; Chicoine, Brian; Skotko, Brian G.; Rafii, Michael S.

OBJECTIVES
To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome.

BACKGROUND
There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area.

METHODS
The authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome.

RESULTS
During the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on “other” studies) as were diagnostic criteria (96% agreement).

CONCLUSIONS
The authors present international consensus agreement on the nomenclature, diagnostic work up, and diagnostic criteria for DSRD, providing an initial practical framework that can advance both research and clinical practices for this condition.

Link | PDF (Frontiers in Neurology) [Open Access]

 

I am glad they could find things which helped and heartened to see better medical care for people with Down's syndrome.

It seems to me an important breakthrough.

I cant help comparing it with ME.

One similarity is how, before they found something to help (IVIg etc), people were dismissive and ignored it, while these poor people with Down's were dwelling in misery due to their havoc immune activity was wreaking on their nervous systems. That strikes me as similar to ME, where the affect on the nervous system is sometimes treated/perceived as a personality disorder and responded to with an inappropriate social response of repugnance.

 

Absolutely @boolybooly.

These cases were so serious too, doctors not taking these cases seriously enough to throughly investigate, indicates that it’s more about how seriously or not they take the responsibility to care for different types of patients over others rather than the actual condition that the patient has.

We have a contrasting and overlapping situation as people with ME. People with Down’s aren’t getting proper proactive care doctors are responding to them or in this case their families with something like; ‘Of course they’re sick, just the way it is I’m afraid they get sick a lot, can’t be helped!’

To people with ME it’s more; ‘No, no, they’re not sick. People like them never are. You quite literally can’t do anything for them. Because there’s absolutely nothing to fix.’

I dread to think how your health would be affected if as a Down’s person you became an ME person also.

I hope this fairly recent breakthrough is the start of a complete reevaluation of care for people with DS.