ABOUT CRELD1 WARRIORS
CRELD1 Warriors is committed to advancing research for mutations in the CRELD1 gene, which leads to a rare condition that can cause serious medical challenges across multiple systems. Because this condition is so rare, little research has been done — and families are left with more questions than answers. Every donation directly supports scientific efforts to better understand CRELD1, discover potential treatments, and bring hope to the children and families affected. Together, we can drive progress where it’s needed most.
WHAT IS CRELD1?
CRELD1 (Cysteine Rich With EGF Like Domains 1) is a Protein Coding gene. Sequence changes in the CRELD1 gene are typically associated with the cause of atrioventricular septal defect.
New types of sequence changes in different parts of the CRELD1 gene can cause an extremely rare genetic disorder when both copies of the gene don’t function properly. This manifests as a wide range of neurodevelopmental and multi-systemic disorders, ranging from mild movement disorders to severe developmental and cognitive delays. This newly identified CRELD1-related disorder, otherwise known as Jeffries Lakhani Neurodevelopmental Syndrome (JELANS), is also characterized by treatment resistant epileptic seizures, adrenal insufficiency, severe bilateral neural hearing loss, immature eye development, neuromuscular disorders, acute respiratory distress, immune related issues, and more.
There are six things that are known to be associated with CRELD1-related disorder:
1) Heart issues - atrioventricular septal defect (AVSD)
2) Neuromuscular issues
3) Seizure activity
4) Global developmental delay and cognitive delay/ learning differences
5) Respiratory issues
6) Immune-related issues.
Not all children diagnosed will necessarily have all of these conditions. The most common characteristic found in the children who have been found to have CRELD1-related issues is intractable seizures. However, it is thought that there are likely to be other children with different presentations, who are lesser known because of how the studies have been conducted.
Also, not all children with sequence changes in the CRELD1 gene will have severe global and developmental/cognitive delays.
Because of the National Institutes of Health (NIH) study, CRELD1 is now on the map with genetic testing.
Research on CRELD1 shows that the gene itself is associated with immune dysfunction, which is a common trait with our CRELD1 children. However, it’s not always that they get sick more easily than others, it’s that their bodies do not handle the viral load normally. CRELD1 is being studied for its connection to the immune system further. https://pubmed.ncbi.nlm.nih.gov/33169013/
It’s important for any new parents that have their child diagnosed with CRELD1-related sequence changes via genetic testing, that they know of the full range of possibilities their children might experience. You will learn from our CRELD1 Warriors that all of them really are unique in their conditions and demonstrate the full spectrum of capabilities. We continue to share everything we learn from our own experiences and with the other families in our CRELD1 family.
But we are fighting back!
OUR MISSION:
Our Mission CRELD1 Warriors was founded by parents of children diagnosed with a CRELD1 gene mutation, also known as Jeffries-Lakhani Neurodevelopmental Syndrome (JELANS).
Our mission is to provide support for families caring for a child with CRELD1 gene mutations, to raise awareness of this extremely rare disease and to support vital medical research to help us find an effective treatment.
OUR WARRIORS
Though the CRELD1 family is small, we have a mighty community with mighty Warriors. Sharing our stories is the most powerful tool when it comes to navigating, diagnosing, and managing CRELD1.
We forever remember and honor our dear Warriors that are now dancing freely in the skies - Hayden, Samuel, Ayla, Lola, Hannah, Matilda, Zoë, Zedekiah, and Lynnon.
Welcome to our CRELD1 family!
*WARRIOR STORIES COMING SOON!