February is Rare Disease Awareness Month, a time dedicated to highlighting the challenges faced by individuals and families affected by rare and neglected diseases. With over 300 million people worldwide living with rare diseases, raising awareness is crucial in driving research, funding, and support.
Nonketotic Hyperglycinemia (NKH) is a devastating genetic disorder that affects approximately 500 children worldwide. At NKH Crusaders, we are dedicated to supporting families, advocating for better treatments, and funding groundbreaking research in pursuit of a cure.
Throughout February, NKH Crusaders will be sharing real-life stories of those affected by NKH. By spreading awareness and supporting research efforts, we can help improve the lives of those impacted by NKH and other rare diseases.
What is Nonketotic Hyperglycinemia (NKH)?
Nonketotic Hyperglycinemia (NKH), also known as Glycine Encephalopathy, is a rare genetic disorder that disrupts the body's ability to break down glycine, an essential neurotransmitter. This results in toxic levels of glycine accumulating in the brain, leading to severe neurological symptoms.
NKH is caused by mutations in the GLDC and AMT genes, which are responsible for breaking down glycine. When these genes do not function properly, glycine builds up, leading to significant health challenges such as:
Seizures
Cognitive and Developmental delays
Muscle weakness
Respiratory issues
Lethargy and coma in severe cases
Cortical Vision Impairment
Chorea
Feeding difficulties
There are different forms of NKH, ranging from classic severe, classic attenuated, variant, and atypical NKH, but all require lifelong medical management. Most infants diagnosed with classic NKH face significant challenges and a shortened lifespan, making research into treatments and potential cures absolutely essential.
The Reality of Living with NKH
For families affected by NKH, daily life is filled with uncertainty and challenges. Many children with NKH require 24/7 medical care, specialized diets, and various medications to manage symptoms.
Parents and caregivers often become experts in managing seizures, respiratory support, and physical therapies, all while navigating a complex medical system with limited research available on their child's condition. The emotional and financial toll can be overwhelming, which is why support networks like the NKH Crusaders Support Group play a crucial role in providing guidance and community.
Despite these challenges, NKH families remain hopeful and determined to fight for better treatment options. Advances in genetic research and experimental therapies offer a glimmer of hope for a future where NKH is not a life-threatening diagnosis.
Rare Diseases and the Power of Awareness
Rare diseases, including NKH, often go unnoticed by the general public, leading to limited research funding and fewer treatment options. Since NKH is classified as an orphan disease—meaning it affects fewer than 200,000 people—it does not receive the same level of financial support and attention as more common medical conditions.
This is why raising awareness is critical. When more people understand the challenges of NKH and other rare diseases, we create opportunities to:
Drive funding for research that could lead to better treatments and, ultimately, a cure.
Increase medical community awareness, improving diagnosis and treatment options.
Build stronger support networks for families and caregivers navigating life with NKH.
Social media plays an important role in sharing knowledge and advocating for our children. By telling our stories, we can educate the public and encourage people to support NKH research through donations and advocacy efforts.
One of the biggest awareness events of the year is Rare Disease Day, which will take place on February 28, 2025. We encourage everyone to participate by sharing information about NKH and joining our mission to fund a cure.
NKH Crusaders: Fighting for a Cure
At NKH Crusaders, our mission is simple: we fight for a future where NKH is no longer a life-threatening diagnosis. Since 2010, we have been funding critical NKH research at leading institutions, including Dr. VanHove at the University of Colorado, who is focused on developing medications specifically for NKH.
Currently, the only available treatments for reducing glycine levels are sodium benzoate and the ketogenic diet—both of which are experimental and come with serious risks.
Sodium benzoate, while used to lower glycine, can lead to liver toxicity, metabolic imbalances, and gastrointestinal issues. It requires close medical monitoring to ensure it does not cause more harm than good.
The ketogenic diet, which is high in fat and low in carbohydrates, has been shown to help some NKH patients manage seizures and glycine levels. However, it can also cause kidney stones, acidosis, and severe nutritional deficiencies if not carefully regulated.
These treatments are not cures, and their effectiveness varies from patient to patient. That’s why fundraising and awareness are so crucial. Our children’s futures depend on scientific breakthroughs, and those breakthroughs depend on the generosity and advocacy of people like you.
You can support our mission by making a donation here: Donate to NKH Research.
Real-Life Stories: Voices from the NKH Community
One of the most powerful ways to spread awareness about NKH is by sharing the personal stories of those who live with it every day. This February, we are proud to highlight real-life stories from NKH families—stories of strength, resilience, and hope.
Each NKH journey is unique, but they all share a common thread: the unwavering love and determination of families fighting for their children. By amplifying these voices, we not only raise awareness but also inspire action.
If you would like to share your NKH story and be featured on our platform, please fill out this form to submit your personal journey with NKH.
Alone we are rare, Together we are strong.
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