Vol. XXVIII - July 2025 | Email Us | CDGCARE.org

In this Issue

CDG Conference - Register Now!
Patient Family Spotlight
New Alliances, Shared Goals
Research Highlights & Updates
Get Connected - Family Resource Network

Registration is NOW OPEN for the 2026 CDG Scientific & Family Conference!

We’re thrilled to announce that the official event page and registration for the 2026 CDG Scientific & Family Conference is now LIVE! Get ready to join us in Orlando, Florida from April 24–26, 2026, at the Hilton Orlando Lake Buena Vista – Disney Springs Area for what promises to be our biggest and most exciting conference yet!

🔗 Click here to explore all the details and register now!

WHY ATTEND?

Whether you're a CDG family, clinician, researcher, or industry leader, this 3-day event is your opportunity to be part of a global gathering focused on advancing science, sharing knowledge, building connections, and inspiring hope for those impacted by Congenital Disorders of Glycosylation (CDG).

What to Expect:

✅ World-Class Scientific, Clinical Care Management and Research & Therapy Sessions featuring cutting-edge presentations from leading experts

✅ Professional & Family Roundtables to connect, learn, and thrive together

✅ Poster Exhibits showcasing research and community engagement

✅ Multiple Networking Opportunities for professionals and families

✅ Kids & Teen Activities to keep young attendees happy and engaged

✅ Travel Assistance Options for family support

✅ Community Celebration Night! A chance to let loose, make memories, and celebrate our shared journey

An Incredible Line-Up of Speakers

We’re building a powerhouse agenda featuring researchers, clinicians, and advocates who are driving change in CDG diagnosis, management, and treatment. Be inspired by the latest breakthroughs and the people behind them!

Book Your Room Early

Registered attendees will have first priority to book rooms at our discounted hotel block inside the Disney Springs Resort Area - a perfect setting for families and professionals alike to enjoy learning and leisure.

Help Us Spread the Word!

Forward this to your friends, lab members, care team, or family support group. The more voices and perspectives we bring together, the stronger our impact!

Let’s make #CDGConference2026 our most meaningful gathering yet - because progress happens together.

Hosted by CDG CARE | Powered by Science, United by Community

Patient Family Spotlight: Super Sophie

By Kara Banville

I should have known from the very beginning that Sophie was going to do things her own way. After enduring what most would describe as a difficult pregnancy, she arrived three weeks early, in a way that no one could easily forget. Sophie was born via an emergency c-section with a cleft palate, and her sugars were dangerously low. She was immediately sent to the NICU after a very brief hug from me. It would be hours before I would see her again.

Sophie stayed in the NICU for 40 days due to feeding issues associated with her cleft palate. The good days certainly outweighed the bad days, but it was a long and exhausting experience that I wouldn’t wish upon anyone. There were constant concerns: severe reflux, possible lactose intolerance, weight struggles, and a frightening label - failure to thrive. Everyone hopes for a healthy baby, but no one prepares you for the possibility that yours might not be.

After 20 days, Sophie was transferred to another hospital that could offer more specialized care. There, we were told she couldn’t come home unless she had a gastrostomy (G) tube placed. So, at just five weeks old, Sophie underwent her first surgery.

In her early months, Sophie experienced several episodes where she became lethargic and nearly unresponsive. When I brought these concerns to her pediatrician, I was told she was “probably just tired.” Deep down, I knew that wasn’t right. I didn’t have all the answers, but I quickly learned I would have to become Sophie’s advocate, even if it meant challenging medical professionals.

At 10 months old, Sophie was scheduled for her cleft palate repair. We were hopeful this would finally resolve her feeding issues. But on the morning of her surgery, she had another episode. The admitting nurse again said she was just tired, but I trusted my instincts. And I was right. Sophie was admitted immediately, and surgery was postponed. Tests revealed her liver enzymes were dangerously elevated, and her blood sugar was critically low. It was terrifying, but it was also a turning point. We began seeing specialists, some I’d never even heard of. We were discharged with no real answers but a plan to start weekly labs in search of clarity.

Nearly two months later, we received a diagnosis: Congenital Disorders of Glycosylation (CDG). But the diagnosis didn’t match any of her symptoms. We quickly learned that we were misinformed and provided the wrong type. The genetics doctor apologized and gave us the correct diagnosis - PGM1-CDG. Suddenly, everything made sense. Sophie displayed almost every symptom and we finally had answers.

I immediately turned to Google, but there wasn’t a lot of information about her diagnosis. So, I turned to Facebook and found CDG CARE which was truly a life-changing moment for me. I found a community that understood what I was going

through, I connected with other PGM1-CDG parents, and we were put in touch with a doctor that could explain her symptoms and give me a better sense of understanding. Sophie had just turned one when we began treatment. I didn’t notice an immediate difference because I didn’t know what to look for, but her lab results improved, and the scary, lethargic episodes became rare. We were finally on the right path.

In the years since, we’ve continued seeing every specialist imaginable, mostly precautionary, but Sophie has adjusted to life as a medically complex child with resilience and grace. She’s participated in feeding, physical, and speech therapy and she’s thrived in all of them.

Sophie will be 6 later this year. She still relies on a feeding tube for much of her nutrition but over the past 6 months she has started to become a bit more adventurous when it comes to eating and she is surpassing all expectations. She is an absolute social butterfly; she excels at school, and she loves to travel.

This isn’t the life I expected for my child but it’s one I now embrace. I believe with all my heart that Sophie is changing the PGM1-CDG world. She is a superhero in my eyes and earns her nickname “Super Sophie” every single day. She is truly unstoppable, and I can’t wait to see what the future holds for her.

CDG CARE Joins COMBINEDBrain and

Rare Epilepsy Network (REN)

We are proud to announce that CDG CARE is now an official member of two important collaborations driving progress in the rare disease space: COMBINEDBrain and Rare Epilepsy Network (REN).

COMBINEDBrain, the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, is a powerful alliance of rare disease foundations, scientists, and clinicians working together to accelerate the development of clinical treatments for individuals with rare genetic neurodevelopmental conditions, including CDG. By pooling efforts, data, and expertise, COMBINEDBrain is creating shared resources that benefit the broader rare disease community.

Additionally, our membership in Rare Epilepsy Network (REN) strengthens our commitment to addressing the complex needs of individuals with CDG who also experience epilepsy. REN is a patient-centered collaboration that brings together advocacy groups, researchers, and clinicians to advance research and improve care for people living with rare epilepsies.

By joining these two impactful networks, CDG CARE is amplifying the voice of the CDG community, ensuring representation in critical research collaborations, and driving forward progress in therapeutic development and quality of care.

We look forward to sharing new insights, research opportunities, and updates as we engage in these collective efforts to improve the lives of those affected by CDG and related conditions.

Stronger Together: How Every CDG Breakthrough Lifts the Whole Community

By Dr. Ivan Martinez-Duncker, Scientific Advisor, CDG CARE

How can progress in one CDG type drive discoveries for all? Why does investing in even the rarest types matter more than ever? In this powerful article, Dr. Ivan Martinez-Duncker reflects on the growing challenge of fragmentation within our diverse CDG community - and shares a bold call to action.

From clinical tools and shared therapies to groundbreaking research models, this piece highlights how united strategies and shared successes can accelerate progress across 190+ CDG types. Whether you're a parent, researcher, or advocate, you'll find insight and inspiration in this must-read message of equity, transparency, and collective strength.

🔗 Click here to read the full article

Big News in Rare Disease Innovation...

$20 Million CRISPR Center Launches to Target Rare Childhood Diseases

Could CRISPR become the game-changer rare disease families have been waiting for?

A bold new initiative - the Center for Pediatric CRISPR Cures - has just launched at the University of California, San Francisco, backed by a $20 million investment from the Chan Zuckerberg Initiative. Spearheaded by CRISPR co-inventor Dr. Jennifer Doudna and pediatrician-turned-philanthropist Dr. Priscilla Chan, this groundbreaking center will begin treating children with ultra-rare genetic diseases using custom-designed gene editing therapies - with the first eight patients enrolling immediately.

Inspired by the successful treatment of a baby named KJ, this next-generation approach aims to bring faster, more targeted, and scalable CRISPR therapies to families who have long been told there were no options.

🔗 Read the full TIME article to learn more about this landmark project

First Nationwide Study of CDG in Japan Highlights Diagnostic Advances and Gaps

Summarized by Dr. Kristen Skvorak, CDG CARE Director of Research

For the first time, researchers in Japan have published a comprehensive study on Congenital Disorders of Glycosylation (CDG), revealing unique trends in diagnosis and disease types across the country. Led by the Osaka Women’s and Children’s Hospital, the team found that several types of CDG are more common in Japan than expected- while others, like PMM2-CDG, are less frequent than seen globally.

The study highlights how advanced tools like mass spectrometry and whole exome sequencing are improving CDG diagnosis, and why expanding access to testing is urgently needed.

🔗 Click here to read the full layperson summary

New Documentary Spotlight -

Fruit Flies: Decoding Rare Diseases

Could one of the tiniest creatures on Earth hold the key to unlocking treatments for rare diseases?

We’re excited to highlight a compelling new documentary that puts a much-deserved spotlight on the innovative work of Dr. Clement Chow and the Chow Lab, in collaboration with the Link Lab. This feature showcases how Drosophila melanogaster, commonly known as the fruit fly, is being leveraged in cutting-edge research to better understand the biology behind rare diseases, including Congenital Disorders of Glycosylation (CDG).

Through this research, these miniature models are accelerating discoveries that could pave the way for future therapies and interventions.

Understanding Cell Trafficking Disorders and Their Overlap with Other Metabolic Diseases

Summarized by Dr. Kristen Skvorak, CDG CARE Director of Research

A newly published article by Drs. Angeles Garcia-Cazorla, Eva Morava, and Jean-Marie Saudubray explores the largest and most under-recognized group of inherited metabolic diseases: cell trafficking disorders (CTDs). CTDs occur when the cell’s internal transport system - responsible for moving, modifying, and delivering proteins, fats, and other molecules - breaks down. These disorders often mimic other rare diseases like CDG, mitochondrial disease, or lysosomal storage disorders, making diagnosis challenging.

This review highlights the importance of recognizing CTDs as a distinct disease group, which could lead to better diagnostic tools, faster recognition of symptoms, and broader treatment options across related disorders.

🔗 Click here to read the full layperson summary

Surprising Diagnosis: MOGS-CDG Identified in Highly Functional Adult

A recent case study published in Clinical Chemistry details a remarkable discovery - a 40-year-old man with immune deficiency and mild learning differences was diagnosed with MOGS-CDG, a rare congenital disorder of glycosylation usually found in children with severe developmental symptoms.

This unexpected case expands the known spectrum of MOGS-CDG and highlights the power of advanced glycan testing and mass spectrometry in uncovering elusive diagnoses - even in adults who might otherwise be overlooked.

🔗 Click here to read the full article

Calling All CDG Families - Your Voice is Needed

It’s time to join the global movement advancing care, connection, and cures for all CDGs.

The Family Resource Network (FRN) is a worldwide initiative launched in 2021 to unite families from all CDG types, creating a single, powerful platform for support, advocacy, and research advancement.

Since our launch, 563 families have enrolled, and our CDG global map has been viewed over 61,000 times by researchers, clinicians, and industry partners. Now, we're calling on YOU to take the next step.

Why join? Because progress depends on connection.

The FRN is the only way we can ensure families everywhere receive timely updates on research, trials, resources, and opportunities to shape the future of care.

By enrolling, you help answer critical questions like:

• How many families are living with each CDG type?

• Where are families located around the world?

• Where should clinical trial sites for specific studies be located?

• How do we reach them with the information they need most?

As an FRN member, you'll receive new and exclusive benefits, including:

🎟️ A free parent/caregiver registration ticket to the 2026 CDG Scientific & Family Conference

✈️ Exclusive access to CDG CARE travel grants

🎓 Members-only webinars, expert Q&As, and education

🎉 Birthday shoutouts for your CDG hero

🎁 Monthly giveaways + surprise perks

Treatments are closer than ever - but we need EVERY family on board.