Slc6a1 Connect

Poppy and the Overactive Amygdala by Holly Rae Provan
This book is a MUST read!!! Not only for SLC6A1 affected families, but anyone who has a Neurodivergent diagnosis.
We have no affiliation with the book or author, but as a parent myself I read the book or watch the video at least once a month as a reminder of how and why our children present with certain behaviors. It is a great book to share with anyone who works with your children. Here is a link below:

https://a.co/d/2izl1co

https://www.youtube.com/watch?v=ExIaqbbKlr4

Poppy and the Overactive Amygdala This book helps us understand the brain and thought process of kids with DMDD, ADHD, ODD, Anxiety, Bipolar disorder, PANS/PANDAS, RAD, Autism disorders, Cond...

Cliff notes version of SLC6A1 in 2023

I don't believe this was posted previously, but felt it was a good short version to share with those interested in learning more about SLC6A1

Five things to know about SLC6A1 in 2023 | Beyond the Ion Channel Five things to know about SLC6A1 in 2023 Posted on March 31, 2023 by Laina Lusk GAT1. The SLC6A1 gene remains one of the most common genetic etiologies to be associated with genetic generalized epilepsy and myoclonic atonic epilepsy. SLC6A1 has not received an update on our blog in a while, perhaps....

It's World Brain Day, a day meant to promote awareness and education for neurological disorders.

Please help advocate for our children who have otherwise been deemed "too rare too care".

SLC6A1 is a gene mutation that primarily impacts the Gat-1 transporter, who's job it is to remove GABA from the synaptic cleft. GABA is the main inhibitory transporter in the brain.

Essentially every thought, feeling, action causes the brain to send out this GABA protein that then needs to be "received" by Gat-1. Our SLC6A1 Warriors have brains that are not receiving all of the messages and when this GABA gets out of balance it often triggers seizures, sometimes 100s of seizures a day.

To honor and advocate for our children, please consider donating to or hosting a lemonade stand this summer Classy makes it easy

https://www.classy.org/campaign/lemonade-for-slc6a1-2024/c587928

Slc6a1 Connect, GABA A Variants and the American Epilepsy Society has awarded Kirill Zavalin, PhD, from the Kang Laboratory at Vanderbilt School of Medicine, a Postdoctoral Research Fellowship. This fellowship will enable Dr. Zavalin to continue the groundbreaking research on phenylbutyrate (Ravicti) in the Kang lab.

Our supporters have made this possible!

Hope for Haley - Slc6a1 Monica Elnekaveh Amber Freed Katie Sharp Laura Kababick Bermingham Sandra McEntee Kimberly Fry Whitney Feldman

It’s extremely important to find your tribe.
The people who will support you through this trying journey.
The people who will laugh with you at your twisted humor
The people who will lift you up when you just can’t carry yourself another inch

Finding the accurate diagnosis isn’t only important for precision medicine, it’s also crucial in building a community of people “who get you”

Here’s a portion of our tribe!

Listen in to Amber Freed on the podcast Handi-Link with Cameron Wells. The episode discusses the challenges and the importance of receiving a diagnosis, the symptoms and frequency of occurrence of SLC6A1, and most importantly advice for newly diagnosed parents. Amber is the third segment, beginning at 17:55, but the first 2 segments featured 2 other amazing advocates and are worth a listen!
Jeff Tiessen with THRIVE Magazine
Jason Wood with ANAD
Thank you Amber for continuing to fight for rare!

Handi-Link SLC6A1, eating disorders, amputee origin story

It’s OK not to be OK
Read it again!
This was stolen from an Autism Group, but it still seemed appropriate for us.
“Find those who support you and understand”
If you do not have those people, you need to comment below NOW because someone, if not everyone here, would love to help you and your family on this journey.
Happy Monday!

Only 1 month away! National SLC6A1 Day....AND.... National Lemonade Day. Please join us in raising awareness on August 17th by hosting your own Lemonade Stand. You can join a team or create your own using the link below. Classy makes the donation process extremely simple, and setting up a team with your sweet warrior's face on the page is fun and easy. ...
https://www.classy.org/campaign/lemonade-for-slc6a1-2024/c587928

Send some extra prayers sent up for Aly, who we were fortunate enough to meet while raising funds for A Cure For Charlie. She was not only kind enough to donate her portion, but has even donated custom shoes to several of our SLC6A1 kids. Please keep Aly in your hearts tonight!

The Rare Disease community lost one of their own, Charlotte Gray, at the age of 13 years old to Battens disease.

Charlotte’s parents fought tirelessly for her and even developed a gene therapy for her in less than year. Charlotte was far advanced in her disease but her little sister was able to receive the treatment before she was symptomatic.

We celebrate Charlotte’s beautiful life today and raise the Kristen Kaiser Gray family in thoughts and prayers.

Happy National Swimming Pool Day!
Did you know that swimming has many benefits beyond cooling our body temp down? It can also:
Improve self-regulation
Increase focus/attention
Reduce sensory aversions
Increase words or vocalizations
Enjoy this summer weather and the benefits of swimming! But of course, remember safety first

SLC6A1 Connect is excited to announce that we are funding a grant, the Rare Epilepsy Partnership Award, in partnership with CURE Epilepsy. Henry Lee and Alex Rotenberg from Harvard/Boston Children’s has received this grant and will conduct research for Gene Therapy for SLC6A1, a rare form of epilepsy. CURE Epilepsy is the leading nongovernmental agency fully committed to funding research to find the cures for all epilepsies, as such they recognize the urgent need to understand and treat rare epilepsies. CURE Epilepsy and SLC6A1 Connect are joint partners, co-funding this research grant to accelerate progress on SLC6A1 research priorities and we look forward to seeing how this research can benefit the rare epilepsy community.
CURE Epilepsy Slc6a1 Connect

BIG news!!

The FDA has just granted Breakthrough Therapy designation to a drug called Bexicaserin for treating Developmental and Epileptic Encephalopathies (DEEs). This is HUGE because it's the first time in history that the FDA has formally recognized DEEs as an indication.

**You read that right - THE FIRST TIME!!**

SLC6A1 Connect has been fighting tirelessly to make sure our community is seen, heard, and recognized. All the fundraising and advocacy efforts are paying off! This milestone is a testament to the power of persistence and community action.

Longboard Pharmaceuticals Receives Breakthrough Therapy Designation for Bexicaserin (LP352) | BioSpace U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy designation for bexicaserin for the treatment of seizures associated with Developmental and Epileptic Encephalopathies (DEEs).

It is the time of year when we have the opportunity to celebrate the heroes among us. Global Genes has nominated a humbling group of individuals that have made this world a better place for the 2024 RARE Champion of Hope Award.

Rachel Forest Heilmann is a bereaved mother that channeled the crippling grief of losing a child into helping others with rare disease.

Effie Parks is a walking dose of serotonin. It takes serious effort not to smile around her or while listening to her Once Upon A Gene podcast.

Cure Gaba A Variants is a “newly” formed nonprofit and I use the quotations because of their lightning progress. Monica Elnekaveh and Agustina Fernández Giambruno know each patient by name and need. They have built a powerhouse of innovation.

The Rare Village and Kasey Will Woleben. Kasey’s passion is to ensure every rare disease family has the chance to fight. Rare Village provides all non-profit infrastructure so families can focus on their loved ones and mobilizing to advance research.

Lastly, Terry Jo Vetters Bichell is the person I am trying to grow up and become.

Congratulations nominees!

National Organization for Rare Disorders, Inc. (NORD) is hosting a community conversation around how to thrive as a single parent of a rare disease child. Thank you for sharing this wonderful opportunity!

https://www.facebook.com/share/p/N4wGH6TBK2HUGhUt/?mibextid=WC7FNe

Are you a single parent to a child or children with a rare disease? Join our Community Conversation next week!

These are supportive, informative, closed-door conversations. RSVP here: https://bit.ly/4epIZK3

“A subtle type of seizure goes undetected two-thirds of the time in pediatric emergency departments, a new study shows.”

Interesting article regarding just how often seizures go undetected in the ED. SLC6A1 frequently presents with these “subtle seizures” delaying treatment as well as diagnosis.

Emergency Departments Frequently Miss Signs of Epilepsy in Children NYU Langone researchers find that nonmotor seizures in preteens and teens often go undetected in pediatric emergency departments. Learn more.

Happy Father's Day to all the incredible dads out there! Today, let's take a moment to recognize and celebrate the unsung heroes who navigate the challenges of fatherhood with children living with a rare disease.

https://www.linkedin.com/pulse/taking-inspiration-from-rare-disease-dads-fathers-day-bruce-braughton

Beautifully written Bruce!

www.linkedin.com

June is PTSD Awareness month. Did you know that 80% of Rare disease caregivers suffer from mental health concerns? PTSD is just one of the mental health concerns they face. Take care of your caregivers! And caregivers, make sure to take care of yourself.

"Living with a rare disease and caring for a loved one with a rare disease is a socially isolating experience. Rare disease patients, their families and caregivers struggle with mental health issues, social isolation and financial burdens. According to a survey conducted by the Canadian Organization for Rare Disorders (CORD), almost 80% of rare disease caregivers suffer from mental health concerns as a result of their caregiving responsibilities (CORD, 2019)."

https://rarediseasefoundation.org/pages/mental-health-wellness-program

Illnesses hit rare disease children harder than your average child. Read below for more information
https://themighty.com/topic/rare-disease/responding-to-all-kids-get-sick-as-the-parent-of-a-chronically-ill-child/?utm_content=buffer37148&utm_medium=social&utm_source=facebook.com&utm_campaign=buffer&fbclid=IwZXh0bgNhZW0CMTEAAR0h2FMs19CPUBFFIgcwWZEHHqOUvGsGYVYDErPLhSonJ-Rx6SKZw1X9w9Y_aem_ZmFrZWR1bW15MTZieXRlcw

When Someone Told Me 'All Kids Get Sick' "My child is not like all kids."

Unfortunately individuals with SLC6A1 typically have drug resistant epilepsy, making it extremely difficult to find seizure control. This also means it’s even more crucial not to miss doses.

Taking seizure medications regularly and as directed by your healthcare provider is essential. What are some ways you remind yourself to take your medication? Share in the comments!

Absolutely amazing! Congrats FOXG1 and Cure Gaba A Variants with Monica Elnekaveh on the outstanding results!

New publication shows groundbreaking results in FOXG1 AAV9 gene therapy studies; rescuing structural brain abnormalities — FOXG1 Research Foundation Groundbreaking Study Shows Promise in AAV9 Gene Therapy for FOXG1 Syndrome; Rescue of Brain Structure Abnormalities and Deficits. [Buffalo, New York June 10, 2024] – A landmark study led by Dr. Soo-Kyung Lee, Chief Scientific Officer at the FOXG1 Research Foundation and Empire Innovation Profess

Exciting Article announcing increased access to exome sequencing for pediatric epilepsy patients. We are glad to see the support growing, leaving less families waiting alone in the darkness of "undiagnosed".
“Receiving a genetic diagnosis can be critical in a child’s journey toward effective treatment and care, and we are thrilled our biopharma counterparts recognize the value that exome testing offers to pediatric epilepsy patients over traditional panel testing,”

GeneDx Announces Patient Access Program to Expand Access to Exome Testing for Pediatric Epilepsy Patients STAMFORD, Conn., June 05, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today...

"Sometimes advocacy also just means participating in research efforts... Realize how important when you participate in research, realizing how important your voice is, and that sometimes filling out a survey can change how clinical trials run."
This was a wonderful podcast, but also reminded us just how important the Simons Searchlight surveys are, the donations to biorepositories, and registering for Ciitizens (our natural history study) is. https://l.facebook.com/l.php?u=https%3A%2F%2Fciitizen.com%2F%3Ffbclid%3DIwZXh0bgNhZW0CMTAAAR1-oi51r6XekFHnB0uMnMZqcDiaKf1jiwD7Y7s6ei_YEIGhypBMb7opFgc_aem_AbGTJSBJKY0zynySrewssk0H2_DezLsP0QY9Guh9pgiWj6vv4Rp1wJlac6RCpt2-LnpWYHAca7XVjDoMGKSCdiTv&h=AT1N7aWZUzyICLirkGvUqOWydTqQEyZdK1_44zT-Hu9On9C-I4RCXSeAAGWulPk9lKKqIjjwUAUnhutzvhaQnW2i0EALbXqTLXcFhaP_1bD4bom28QBmJbaO8s8Ddro6GSCSI74NqPhoDFfi7CzttlibvuA9_095&__tn__=R]-R&c[0]=AT1AUabT-vV5LAtZlGb1u7km2-q3ti8fHz5cyVQ3lhYhwHnwlqUTg4wGbEMifH21ZbtHXSByZRE6icbCiSWQrwj1QWW71vUkRYzsvJq-YwuJClqa7SG1uESVNNeUJabgKNknmVlc7JY03ikSk_-zMdT_MXOKVvafI2FeLJs3D7vbpDr2CQ5gsZbpWUYKA2bEr99iM9K2RoYCEfNI7mBmr2x1_cHcgjIATdZy_DTb7w

Raring to Listen - Episode 6: Quality of Life Impacts of Rare Epilepsy on Patient and Family Life

Bragging Time:

A Quant EEG study? That can't be done. The hashtag clinical team UT Southwestern Medical Center begs to differ.

The research project entitled "Delta Power in SLC6A1-NDD: Unveiling a Quantitative EEG Biomarker for a Rare Genetic Epilepsy" was awarded the PERF Excellence in Basic Neuroscience Research Award to support basic or clinical science research by child neurologists or developmental pediatricians early in their careers.

Today is a proud day for SLC6A1 Connect and the rare disease community. Thank you to this talented group of individuals for showing the science community a Quant EEG study can be done.