เชื่อมต่อกับ TeachRare บนโซเชียลมีเดียเข้าร่วมการสนทนาสร้างความตระหนักและสนับสนุนชุมชน

What do frozen drug addicts, monkeys, and my daughter's gene therapy have in common? Believe it or not, quite a lot!

I always wondered how they could test gene therapy on monkeys when AADC deficiency is so rare in humans. Did the monkeys have AADC deficiency?

With AADC ...Deficiency Awareness Day on October 23, I wanted to share the answer I learned to this during a celebratory dinner in Taiwan.

In 2024, I had the opportunity to ask Professor Shin-ichi Muramatsu from Japan this exact question. What he shared was a fascinating story about the unlikely history behind AADC gene therapy.

Sometimes, the road to a medical breakthrough is stranger than fiction! I share this remarkable story, including how researchers connected Parkinson's disease to advances in AADC gene therapy, in my latest AADCNews article.

👇 Read the full story and discover how a tragic accident helped open the door to hope for rare disease families.

🔗 https://teachrare.org/from-frozen-addicts-to-gene-therapy/

#AADCdeficiency #genetherapy #raredisease #MedicalResearch #iflscience #rarediseaseawareness

How Frozen Addicts and Monkey Research Helped Advance AADC Gene Therapy

A dinner with Professor Muramatsu reveals how an accidental drug discovery and monkey research helped pave the way for AADC deficiency gene therapy.

teachrare.org

Prader-Willi Syndrome Association Thailand is hosting its 24th Annual Meeting for families.

📅 Date: Sunday, 1 November 2026
⏰ Time: 8:30 AM – 12:30 PM
📍 Venue: Meeting Room 810 AB, 8th Floor, Medical Learning and Practice Building, ...คณะแพทยศาสตร์โรงพยาบาลรามาธิบดี Faculty of Medicine Ramathibodi Hospital

This year, we are pleased to offer a very special and informative session for families of children with special needs. We are honored to welcome speakers from the Bangkok Special Education Center, who will share their expertise and guide you in choosing the most suitable educational pathways based on each child’s developmental needs and individual potential.

For parents who are exploring educational options for their children, this is a session you won’t want to miss!

📌 Session Topic: PWS Learning Path: Opening Pathways to Learning and Growing
#specialeducation #specialneeds Thai Rare Disease Foundation

After listening to the Literary Titan podcast, we know we need to add an audiobook format. Thank you very much for the comments and for taking the time to share with your community: https://open.spotify.com/episode/1pavsjADx5wid4s7Zbr8DF?si=MScmsRShQEScSU-0Nz63Uw&nd=1&dlsi=49dbf782580b4ff1

Canadian children's hospitals are receiving approximately $1.77 million in new funding from Conscience to advance rare disease detection and treatment initiatives. The funding will support the expansion of the AI-powered ThinkRare system to additional pediatric institutions and help advance an... experimental gene therapy trial for CLN7 Batten disease.

Canadian children's hospitals expand AI-powered rare disease detection as gene therapy research advances

Explore advancements in disease detection using artificial intelligence to diagnose rare genetic disorders in children faster.

www.hospitalnews.com

We are honored to see REAWAKEN: Finding Hope, Purpose, and Joy Through Life’s Unexpected Journey featured in the latest edition of RARE Revolution Magazine.

Written by Teach RARE co-founders Richard Earl Poulin III and Judy Wei, REAWAKEN shares their family’s journey through ...Rylae-Ann’s AADC deficiency diagnosis, groundbreaking gene therapy, recovery, education, faith, and advocacy.

Thank you to RARE Revolution Magazine for helping rare families feel seen, heard, and connected. Every story shared strengthens our collective voice and reminds families that they are not alone.

All proceeds from REAWAKEN support families affected by rare diseases and special needs.

Read the latest edition: https://editions.rarerevolutionmagazine.com/html5/reader/production/default.aspx?pubname=&edid=a879f992-d7b6-4577-a1e2-3ba26643b60c
Learn more about the book: https://www.amazon.com/dp/B0HB9JJP8Q

RSV SEASON MAY BE APPROACHING OR ALREADY HERE IN YOUR AREA!

For families raising children with AADC deficiency, RSV is something we need to take especially seriously.

RSV is a common respiratory virus that often causes cold-like symptoms. However, for babies, young children, and ...children with complex medical needs, it can lead to serious complications, including bronchiolitis, pneumonia, and hospitalization.

Why are children with AADC deficiency particularly vulnerable?

Many children with AADC deficiency experience low muscle tone (hypotonia), difficulties swallowing, impaired airway protection, and challenges clearing mucus. These symptoms can increase their risk of respiratory complications, especially if they have a history of aspiration or recurrent lung infections.

As parents of a child with AADC deficiency, we know how quickly a seemingly ordinary respiratory illness can become something much more serious.

KNOW YOUR LOCAL RSV SEASON!

RSV does not follow the same seasonal pattern everywhere. In some countries, cases increase during colder months. In tropical regions, including parts of Southeast Asia, RSV activity may rise during rainy seasons.

Check with your local pediatrician, hospital, or public health authority to find out when RSV typically peaks in your community. Don't assume the RSV season is the same everywhere!

7 WAYS TO HELP PROTECT YOUR CHILD

1. Practice good hand hygiene. Wash hands frequently and encourage everyone who interacts with your child to do the same.

2. Avoid contact with sick individuals. Even a mild cold in another person can become a serious respiratory infection for a medically vulnerable child.

3. Clean frequently touched surfaces. Toys, tablets, doorknobs, and therapy equipment can all harbor germs.

4. Be mindful of crowded environments. During periods of high RSV activity, consider limiting unnecessary exposure, particularly in poorly ventilated indoor spaces.

5. Discuss RSV prevention with your doctor. RSV immunizations and preventive antibody treatments are available for certain age groups and risk categories. Ask your child's medical team what is appropriate and available locally.

6. Have a respiratory care plan. If your child struggles with mucus clearance, swallowing, or aspiration, discuss airway clearance strategies, feeding precautions, and when to seek medical care with their healthcare team. We used saline solution with a syringe, nasal sprays, nebulizer, inhaler, and decongestants.

7. Recognize the warning signs. Watch for rapid or difficult breathing, chest retractions, unusual lethargy, dehydration, worsening feeding difficulties, or changes in oxygen levels if monitored. Blue or gray lips, pauses in breathing, or severe breathing difficulty require emergency medical attention.

A MESSAGE TO OUR AADC COMMUNITY

We cannot protect our children from every virus, and we certainly cannot keep them in a bubble forever. Our children deserve opportunities to learn, play, explore, and enjoy life.

But awareness and preparation can make a meaningful difference.

Know your local RSV season. Know your child's vulnerabilities. Have a plan before symptoms appear.

And please share this reminder with other rare disease and special needs families. A little awareness today may help prevent a serious complication tomorrow.

Together, we can keep our community informed, prepared, and supported.

Respiratory Syncytial Virus Hospitalization Surveillance Network (RSV-NET)

View RSV hospitalization data for children and adults.

www.cdc.gov

24/364 In the Light is an intimate documentary series that illuminates the daily lived experience of rare disease. Each episode follows a different person through the unfiltered rhythms of everyday life, from morning routines, school and work to appointments, caregiving, relationships, and the ...moments of joy in between.

Because rare disease is more than a diagnosis. It’s a life in full.

In the Light Docuseries | Rare Disease Stories from 24/364

Meet the patients, caregivers, families and communities featured in In the Light, a 24/364 docuseries about life with rare disease beyond Rare ...

24364.life

Just as Rylae-Ann was finally getting back into her school routine after recovering from a lung infection and severe bronchitis, Bangkok received nearly 300 mm of rain in 48 hours. Roads flooded, schools closed, and suddenly we were back to learning from home.

But if raising a child with ...AADC deficiency has taught Judy and me anything, it is adaptability.

So PT became “gym play.” The #BangkokFloods became a literacy lesson. A rainforest diorama turned into science class. We practiced presentation skills, worked through math, squeezed in family lunch between my meetings, and somehow kept learning, laughing, and moving forward.

Rare disease families become pretty good at changing plans. Therapies get canceled. Kids get sick. Development happens on its own timeline. And sometimes, apparently, your street becomes a river. 😂

We cannot always control what happens around us, but we can decide what happens next.

I share more about our unexpected week and what it reminded me about resilience in my latest AADC News column. ❤️

👉 Read Now: https://aadcnews.com/columns/rare-disease-family-showcased-adaptability-floodwaters-rose/

#AADCDeficiency #RareDisease #RareDiseaseFamily #Resilience #Adaptability #SpecialNeedsParenting #InclusiveEducation #Family #TeachRARE

This rare disease family showcased its adaptability as floodwaters...

Columnist Richard E. Poulin III's home became a classroom last week as rains drenched Thailand and the floodwaters encircled his house.

aadcnews.com

Denny has specialists and a chance for a new lease on life with the gene therapy treatment, while his friends wish him the best of luck and a very happy birthday.

Gainesville boy living with rare genetic disease receives birthday parade

Denny Ladkani lives with Duchenne Muscular Dystrophy, a rare genetic disease that causes progressive muscle degeneration and weakness throughout the...

www.wcjb.com

A rare disease doesn't mean everything has to be unique or special. Sometimes typical and normal are also greatly appreciated.

Parents of 4-Year-Old with Ultra-Rare Genetic Disorder Are Determined to Give Him as ‘Normal a Childhood as Possible’ (Exclusive)

A Florida mother of one tells PEOPLE she is determined to give her son, who has an ultra-rare genetic disorder affecting fewer than 100 kids...

people.com