Understanding RCDP

The Critical Role of Plasmalogens

Understanding Rhizomelic Chondrodysplasia Punctata (RCDP) is essential in recognizing its impact on development and survival.

This educational resource provides comprehensive information on the disorder, highlighting both classic and non-classic forms and the significance of plasmalogens in cellular health.

 

What is RCDP?

Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare genetic disorder, affecting approximately one in 100,000 live births. This condition is characterized by a severe deficiency in plasmalogens, leading to significant developmental challenges and a high mortality rate, with about 40% of affected children not surviving past age 10.

 

RCDP manifests in two forms: the classic form, which includes symptoms like rhizomelia (shortening of upper arms and thighs), congenital cataracts, profound developmental delays, and respiratory issues; and the non-classic form, presenting milder symptoms and less severe developmental impacts. The disorder is caused by mutations in genes responsible for plasmalogen biosynthesis, crucial for normal cellular function in the brain and muscles.

What are plasmalogens?

Plasmalogens are a distinct class of glycerophospholipids involved in many of the body’s cellular functions.

 

These molecules are among the building blocks of cell membranes. Like the walls of an apartment, membranes create barriers that separate and compartmentalize the different components and organelles within a cell.

 

Most glycerophospholipids can be obtained from food, but plasmalogens are an exception. The body makes them primarily in peroxisomes, specialized organelles found in nearly every cell. Plasmalogens are also less stable outside the body and tend to break down in the acidic environment of the stomach. Their unique structure and function are why they matter so much to cellular health and to the regulation of many biological processes.

 

Plasmalogens are especially important in the brain and nervous system. RCDP is characterized by an inability to produce them, which affects myelination and brain development. Research into plasmalogen biochemistry has focused on understanding this deficiency and how it shapes the condition.

Plasmalogen research: a new direction for RCDP families

Dr. Dayan Goodenowe, PhD, has spent years researching plasmalogens, including how the body makes them and what happens when it can’t. That work has given families affected by RCDP something they rarely had before: a scientific framework for understanding the condition. In 2022, he established a charity to support children and families living with RCDP. The charity provides families with plasmalogen supplements at no cost, educational resources, and a community so that no one faces this condition alone.

Zoom Call with Dr. Goodenowe

Join Dr. Goodenowe, PhD, for a personal Zoom conversation about RCDP and the science of plasmalogens.

Products Delivered at No Cost to Families

Plasmalogen supplements are provided to families at no cost.

ProdromeSCAN™ Available Upon Request

Request a blood test to measure plasmalogen levels and track changes over time.

Continued Support by Dr. Goodenowe

Receive ongoing educational support from Dr. Goodenowe, PhD.

Do you have a child with RCDP and want to learn more about plasmalogens and the research program?

Real stories of the life changing impact of plasmalogens

Dr. Dayan Goodenowe’s dedication to understanding and treating plasmalogen deficiencies has led to significant advancements in RCDP treatment, mainly through plasmalogen restoration therapy.

This innovative approach has profoundly impacted the lives of children like Thatcher and Nova, both of whom have non-classic RCDP. Seven-year-old Thatcher experienced remarkable improvements in mobility and heart function, overall health and quality of life while Nova, diagnosed with RCDP at 18 months, showed rapid developmental progress after starting the therapy. Her ability to walk more stably, improved balance, enhanced eye contact, and increased engagement with her environment and family are testaments to the therapy’s potential. These cases underline the transformative power of plasmalogen restoration in improving the quality of life for RCDP patients, offering new hope and possibilities.

Thatcher's Story

Thatcher is 7 years old and wasn't diagnosed with non-classic RCDP until he was almost 5. Learn more about Thatcher's journey here:

Nova's Story

Nova is 4 years old and was diagnosed with non-classic RCDP when she was 18 months old. Learn more about Nova's journey here.

Tytann's Story

Tytann is 2 years old and was diagnosed with classic RCDP before he was born. There have been many ups and downs but through it all he still finds a way to smile and laugh. We look forward to sharing his story soon!

Breaking RCDP - The definitive lecture series

Embark on a journey of understanding Rhizomelic Chondrodysplasia Punctata (RCDP) with Dr. Dayan Goodenowe’s course, Breaking RCDP. Spanning seven lectures, this series is tailored for everyone, whether you’re a parent of a child with RCDP, a health professional, or simply interested in the topic.

 

Dr. Goodenowe brings clarity to the complex scientific aspects of RCDP, ensuring the content is approachable and comprehensible, regardless of your background.

Join us to gain insightful knowledge about RCDP in an accessible and engaging format.

RCDP and its broader implications

The study of RCDP is crucial for understanding neurodevelopmental and neurodegenerative disorders linked to plasmalogen deficiencies, including Alzheimer’s, ALS, and Autism. Dr. Goodenowe’s presentation, Rhizomelic Chondrodysplasia Punctata (RCDP): A Rare Children’s Disease That May Be The Key To Reversing Neurological Decline in Aging, sheds light on RCDP and its broader implications.

 

Dr. Goodenowe’s research examines the role of plasmalogens in human health and how their levels change with age. His published work and lecture series look at what plasmalogen biochemistry can tell us about both RCDP and the aging brain.

More than just research

If you're a parent seeking information on plasmalogens and the research program for a child with RCDP, or if you wish to connect with other parents who are currently navigating this journey, please reach out.

Our family support group provides a platform to share experiences, challenges, and achievements, fostering a supportive network for anyone dealing with RCDP. We also welcome individuals interested in neurodevelopmental disorders and plasmalogen research. Join our community to contribute to the growing understanding of these complex conditions.

Please reach out to our team, and we can connect you.

Email us at communityhealth@drgoodenowe.com or join our Facebook support group for families.