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Get to Know CRELD1 Warriors

Updated: Jun 7

About CRELD1 (Cysteine Rich With EGF Like Domains 1)

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 (AVSD).

However, new types of sequence changes in different parts of the CRELD1 gene can cause a multisystem syndrome, when both copies of the gene don’t function properly (autosomal recessive inheritance). This manifests as a wide range of neurodevelopmental disorders, ranging from mild movement disorders to severe developmental and cognitive delays.

First discovered in 2017 by the National Institutes of Health (NIH) , CRELD1-related disorder is also characterised by multiple, frequent, treatment resistant epileptic seizures, adrenal insufficiency, hypotonia, cardiac dysrhythmias, bilateral neural hearing loss, immature eye development, acute respiratory distress and submucosal cleft palate.

We are only aware of 21 children who have been diagnosed with CRELD1-related disorder globally.

The majority of our population is based in the U.S., with families also in the UK, Australia and Canada.

Clinical Features of our Community

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 and

6) Immune-related issues.

Not all children diagnosed will necessarily have all of these conditions. The most common characteristic found in the children with 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.

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.

Our Mission

Our very small but mighty CRELD1 community started as a Facebook Group in 2019 as a way to connect and support families around the world that have received a CRELD1 diagnosis. We have since registered CRELD1 Warriors as a charity and our mission is to provide support for families caring for a child with CRELD1, to raise awareness of the condition and to support medical research.

We have worked closely with Yale School of Medicine to publish the first medical paper on CRELD1 and now we aim to build upon this research to learn more about potential therapies.

I am Especially Proud of...

My pride in this community stems from our love, empathy and support for each other as a family, despite the fact we’ve never even met in person. While we are an extremely small group of families across the globe, we are mighty in our strength as parents caring for our CRELD1 children and our determination to find solutions to make their lives easier.

Excited to REN Because...

CRELD1 Warriors is a young and growing community, eager to learn from and connect with fellow rare disease organizations. We're proud to join REN to raise awareness for CRELD1 and ensure that no family feels alone on their journey. We look forward to sharing experiences, learning together, and ultimately finding a cure for CRELD1. Alone we are rare, but together we are very strong. 

My Journey and Motivation...

We first heard about CRELD1 when our daughter Lola started having frequent seizures at just three months old. Lola had severe developmental delay, was struggling with feeding and mobility and often experienced upwards of 80-100 'twitches' and prolonged seizures every day.

By pure chance, a mother from Canada in one of the epilepsy Facebook groups recognised Lola's seizures from those that her son was having. Her son and daughter had both been diagnosed with a newly identified CRELD1-related disorder. We quickly established many similarities in our children's symptoms and experiences. Despite taking this information to our geneticists in the UK, it was not treated as significant, or investigated further. ​

A few weeks before Lola's third birthday, and just four days after her little brother Alfie was born, our worst nightmare became a reality when we tragically lost Lola. Her cause of death was put down to Sudden Unexpected Death in Epilepsy (SUDEP), a tragic outcome for many children with severe epilepsy. ​

We quickly learnt that this wasn't the end of our nightmare, as her brother Alfie started having the same seizures at three months old. After continuing to present evidence to our geneticist, we soon had confirmation that Lola and Alfie were both diagnosed with the same CRELD1 gene sequence variation. ​

While this diagnosis has simply turned our lives upside down, we have found an incredible community of inspirational families from across the U.S., Canada and UK that are all caring for children with CRELD1. These families give us hope, ideas, love and support as we all fight this together.

We decided to form the CRELD1 Warriors charity to build a community of support, and because very little is known about this condition. We have committed our lives to searching for guidance, answers and support to help us deal with this ever challenging condition and give our son Alfie, and our other CRELD1 children, the best possible chance at life.

By Adam Clatworthy - co-founder of CRELD1 Warriors

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