#tuberous sclerosis

[disability-shout-outs]

Shout out to folks with Tuberous Sclerosis!

[bpod-bpod]

Mystery in Miniature

A rare genetic condition, tuberous sclerosis complex (TSC) causes the development of cysts and benign tumours in the kidneys and other organs, with potentially life-threatening consequences. While we know TSC is caused by mutations in the genes TSC1 or TSC2, the actual cellular processes affected have remained something of an enigma. In a recent breakthrough, researchers were able to investigate the effects of mutations in these genes using renal organoids, miniature self-organised clusters of cells that recapitulate the structures and functions of kidneys (pictured, with various kidney structures highlighted in different colours). When tracking the development of organoids made from cells lacking functional TSC1 or TSC2 they found disruptions to the developmental pathways of multiple cell types, contributing to the puzzling diversity of tumours associated with TSC. While there is currently no cure for TSC, these organoids could also prove a useful tool for testing potential drugs in the future.

Written by Emmanuelle Briolat

Image from work by Adam Pietrobon and colleagues

The Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada

Image originally published with a Creative Commons Attribution 4.0 International (CC BY-ND-NC 4.0)

Published in Cell Reports, July 2022

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[themogaidragon]

Can you make a flag for tuberous sclerosis?

Of course!

Tuberous Sclerosis (TSC) Pride Flag

pt: Tuberous Sclerosis (TSC) Pride Flag /end pt

id: a flag of 5 diagonal pointing from top left to down right. Colors are, from left to right, tealish blue, pastel coral, greenish white, dark lavender and orangy yellow. end id

Tuberous sclerosis/Tuberous Sclerosis Complex: a genetic disorder that causes noncancerous (benign) tumors — unexpected overgrowths of normal tissue — to develop in many parts of the body. Signs and symptoms vary widely, depending on where the growths develop and how a person is affected.

Flag meanings:

Tealish blue: chronic pains and health problems.

Pastel coral: fighting against ableism.

Greenish white: neurodevelopmental disorders, neurodivergency.

Dark lavender: the umbrela of neurocutaneous syndromes.

Orangy yellow: autism, depression, epilepsia and other associated disorders.

If anything is wrong with the flag or the meanings, tell me!^^

[bpod-bpod]

Loose Connections

A loose connection on your TV aerial can ruin the signal, rendering it useless, so imagine what imperfect connections between brain cells might mean. Tuberous sclerosis (TSC) is a genetic disorder that causes non-cancerous tumours, and in some patients epilepsy, learning difficulties, or autism because of misconstructed neural wiring. How and why these errors occur is unclear, so researchers developed stem cells – cells with the potential to develop from scratch – from patients with TSC. The team then encouraged these stem cells to develop into brain cells (right), alongside healthy comparisons (left). They found the projections (green) reaching out from the cells were longer and followed a different pattern, showing how they may be going awry. Further investigation suggested that the misdirection was the result of an error in the signals sent to the cell skeleton. This study could eventually signal routes to new treatments.

Written by Anthony Lewis

Image adapted from work by Timothy S. Catlett and colleagues

Department of Neuroscience, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Nature Communications, May 2021

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[doctor-mommy-speaks]

Ep. #16 How to Identify infantile spasms and take action. With President of Tuberous Sclerosis Alliance- Kari Rosback

Ep. #16 How to Identify infantile spasms and take action. With President of Tuberous Sclerosis Alliance- Kari Rosback

December 1- 7th is the infantile spasms awareness week. Every year a coalition of international organisations teams up to raise awareness about these spams. Like the American Academy of Pediatricians, tuberous sclerosis alliance, epilepsy foundation, child neurology foundation, etc.  I am humbled to have partnered with them to help raise awareness about infantile spasms. They are one of the…

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[radiologyworld]

LAM - lymphangioleiomyomatosis

Source: www.radioassistant.nl

[enzaime-blog]

A Rare Genetic Disorder Occurring in One Out of 6,000 Births

New Story has been published on https://enzaime.com/rare-genetic-disorder-occurring-one-6000-births/

A Rare Genetic Disorder Occurring in One Out of 6,000 Births

When Chris and Crystal Ditch delivered their baby boy, Mason, they burst into tears of joy. It had taken them four years to get pregnant, and they finally held the baby they had awaited for so long. But two hours before Crystal and Mason were scheduled to be discharged, doctors told them that Mason had tumors in his tiny heart. A few days later, doctors found tumors in his brain, and he was diagnosed with tuberous sclerosis, a rare genetic disorder occurring in one out of 6,000 births that causes noncancerous tumors to grow in many different organs, including the brain, eyes, heart, kidneys, skin, and lungs.

Receiving a diagnosis of tuberous sclerosis can be daunting for parents, because it can affect so many organs, and the course of the disease is impossible to predict. Some patients can lead independent, healthy lives, while others develop seizures and severe intellectual disabilities. Some patients go on to develop autism, anxiety, ADHD, self-injurious behavior, and aggression, while others have symptoms so minor that they go undiagnosed for years.

“I just lost it completely,” said Chris. “The worst part is the unknown, because I asked a million questions and they said ‘We don’t know.’”

The Ditches left the hospital with a referral to Tanjala Gipson, MD, at Kennedy Krieger Institute, where the new interdisciplinary Tuberous Sclerosis Clinic is one of only 30 clinics in the United States dedicated specifically to the care of individuals affected by tuberous sclerosis and their families.

Dr. Gipson first came to the Institute as a trainee with a personal interest in helping children with neurodevelopmental disabilities, having two sons of her own born with developmental disabilities. After completing both her residency in neurodevelopmental disabilities and a clinical research fellowship at Kennedy Krieger, she joined the faculty and launched the Tuberous Sclerosis Clinic, which offers interdisciplinary care to patients like Mason.

Crystal remembers when they met Dr. Gipson for the first time—Dr. Gipson picked up Mason and hugged him like she’d known him his whole life and said, “I’ve heard all about Mason— we’ve been waiting to see him.” For the Ditches, who were full of uncertainty, Dr. Gipson made them feel instantly comfortable as she answered all of the many questions they had about Mason and his treatment. “She has such a loving, soothing spirit,” says Crystal.

She told them to watch Mason carefully for seizures, explaining what they would look like and showing them a video. A few weeks later, when Chris and Crystal noticed Mason repeatedly making a fist and tensing his body, then relaxing, the Ditches immediately called Dr. Gipson. When they arrived at the hospital, Dr. Gipson was already there briefing the doctors in the ER about Mason.

Even before the seizures began, Dr. Gipson had shown the Ditches a study out of Sweden about early intervention for seizures with the drug vigabatrin, which was found to be effective in staving off seizures. The medication had a rare risk of visual impairment, but seizures in themselves were dangerous because they could cause cognitive impairment and intellectual disability. So Dr. Gipson helped the Ditches weigh their options and decide whether the treatment was worth the risk. In the end, they decided that potential damage to the eye was not as bad as damage to the brain, so they decided to give the medicine to Mason. “It was scary for them, and for me too,” says Dr. Gipson. The medication worked without affecting his eyes, and Mason is now seizure-free.

“Early intervention for seizures and direct targeting with medications that attack the underlying cause of tuberous sclerosis have both led to improved outcomes in children,” says Dr. Gipson. “These important strategies were implemented for Mason and should be considered for all infants with tuberous sclerosis.”

In Mason’s case, he will continue to have his heart tumors monitored by a cardiologist. So far the tumors are not blocking any blood flow, and are expected to shrink and disappear as his heart gets bigger. He will need a brain MRI every year to monitor the lesions in his brain. And he will need to have his kidneys and eyes monitored, possibly for the rest of his life. Fortunately, the Tuberous Sclerosis Clinic has an interdisciplinary team of specialists in epilepsy, neurology, cardiology, ophthalmology, nephrology, and other disciplines to handle the complex needs that can occur with this diagnosis.

In the meantime, the Tuberous Sclerosis Clinic is conducting research that may offer promising new treatments in Mason’s lifetime. Current research efforts are aimed at finding options for treatment through clinical trials of drugs that have shown to be especially effective in patients with tuberous sclerosis, and examining whether drugs proven effective for seizures and brain tumors also have an effect on behavioral difficulties occurring with tuberous sclerosis, such as self-injury and aggression.

The importance of Dr. Gipson’s research at the Tuberous Sclerosis Clinic has been recognized by the National Institutes of Health—Kennedy Krieger received the Neurological Sciences Academic Development Award, which provides three years of protected time for Dr. Gipson to continue her clinical research for children affected by tuberous sclerosis. The clinic has also been recognized as a member of the national Tuberous Sclerosis Alliance.

“The main thing that I’ve learned during my training is the importance of mentorship,” says Dr. Gipson. “My primary mentors Dr. Johnston and Dr. Shapiro taught me, by example, the importance of working hard, serving others, remaining focused, and maintaining humility.”

For families like Mason’s, Dr. Gipson and the Tuberous Sclerosis Clinic offer a beacon of hope. “Dr. Gipson has been our rock through all of this,” says Crystal. “With all the uncertainty that comes with this diagnosis, to have that peace and confidence with your doctor is a huge blessing.”

[timetotalktsc]

Great natural stuff - but for me I have found it’s a trigger for my seizures. Don’t stress about what you eat, just be aware of any different sensations you may get? Do you feel a bit strange after certain foods? Do your seizures increase? Listen to your body