Families of children with #TuberousSclerosis complex often discontinued a #telehealth behavioural intervention because of medical crises and caregiving demands, highlighting the need for more flexible #FamilyCentredCare #NeurodevelopmentalDisorders
onlinelibrary.wiley.com/doi/10.1111/...

TSCNZ's Helen Willacy presented her Master of Genetic Counselling research project, identifying a gap in suitable resources that address the needs of parents of children with genetic neurodevelopmental conditions, at this month's HGSA Annual Scientific Meeting #geneticcounselling #tuberoussclerosis

More seizures than normal and increased meds … feels a bit like this 💜💚

#epilepsy #drugresistant #raredisease #tuberoussclerosis

Not every day is a positive day. Increased Seizures, increased meds = shattered and empty battery.
Tomorrow is another day 💚💜

#epilepsy #raredisease #tuberoussclerosis #vns

Oooops!!! 3rd round of meds .. nearly forgot!!!

#epilepsy #medication #tuberoussclerosis #raredisease

Tuberous sclerosis (TSC) is a rare genetic disorder that can cause a range of disabilities, including:
- Learning disabilities
- Neurodevelopmental conditions
- Seizures
- Brain tumours
- Heart tumoirs
Find out more...and Donate...at tsc.org.nz
#tuberoussclerosis #internationaldayofdisability

It's TSC Awareness Month, and I'm raising money for a cure for my daughter!

To hear her story, check out my recent interview for the Inclusion starts now podcast: tinyurl.com/tscinclusion

Please donate to our cause here: give.tscalliance.org/team/634369

#raredisease #Step4TSC #tuberoussclerosis

This case report describes the presentation of conjunctival lymphangioma as the sole initial manifestation of tuberous sclerosis complex (TSC) in a 9-year-old patient.

bit.ly/cjo_tuberous...

#Ophthalmology #Pediatrics #TuberousSclerosis

TSC used to mean progressive tumors + uncontrolled seizures.

Now we have:
Everolimus
Sirolimus
Vigabatrin

Targeted therapy + seizure control = a new management era.

Curious how mTOR dysregulation drives all of this?

#TuberousSclerosis #RareDisease #Neurology #Pharma

Our findings suggest that ABI-009 is safe and tolerable in pediatric patients with surgically and medically refractory epilepsy at a dose of 20 mg/m2.
doi.org/10.1111/epi....

#epilepsy #epilepsia #ILAE #epilepsysurgery #malformationcorticaldevelopment #mTOR #tuberoussclerosis

Tuberous sclerosis complex (TSC) is a rare genetic condition that causes tumors to grow in various parts of the body. Awareness is vital to early diagnosis and care.

This May, join us in spreading awareness and supporting families navigating TSC.

#TuberousSclerosis #TSCawareness

Nested Case-Control Study of Intervention in Early Infancy to Prevent #TuberousSclerosis Complex–Associated Renal #Angiomyolipoma

#VisualAbstract by @thana_susan

www.kireports.org/ar...

I don't want to list all my illnesses every time I meet someone new. A little understanding is all that is needed. #tuberoussclerosis

In honor of the upcoming American Epilepsy Society Meeting #AES, here are some epilepsy studies:

In #TuberousSclerosis,
— Cenobamate ⬇️ seizures
shorturl.at/n2xmL

— But Everolimus levels decrease w/ cenobamate, so monitor mTOR inhibitors levels
shorturl.at/eYP7c

⚡️ 🧠