Colton's XXXtraordinarY Cause

In the months following Colton’s birth, we noticed that he was failing to thrive and was not meeting developmental milestones.

 

By the time he was 9 months old, we were referred to a geneticist. While we thought that we were just covering our bases, we discovered something totally unexpected: Colton had 48XXXY.

 

Boys with 48XXXY often face physical struggles due to low muscle tone, complications with language and speech, developmental and behavior problems, and varied health issues.

 

Thankfully, because we received a diagnosis early on, we were able to begin hormone treatments and therapies right away. We feel that early intervention will result in very positive outcomes for our son.

 

His story has given us an enlightened perspective on parenting and on life in general. We have been amazed at the kinship we feel with other families who share in the special journey of parenting a child with unique needs. Through it all, we have been inspired to do more - not only for our son, but for all of the children who are diagnosed with a rare disease or syndrome.

 

Today, we are working to spread awareness, not only for 48XXXY, but for all X & Y variations. Current research indicates that (although Colton’s variation 48XXXY is extremely rare) 1 in 500 births have X & Y Chromosomal variations and of those born with this, 7 out of 10 children will never be diagnosed. Failure to diagnose and treat these children can leave them struggling with learning disabilities, language impairment, motor planning deficits, reading dysfunction, attention disorders and behavioral problems which can impact their entire lives.

 

Through Colton’s diagnosis, we have been connected with other families in the community that have children with other rare syndromes and diseases.  Although our original vision was to focus only on X&Y variations, we have discovered the importance of bringing awareness to all rare diseases and syndromes, and saw an opportunity to do that with Colton’s XXXtraordinarY Cause.  

In addition to raising funds and awareness for X & Y Variations, each year Colton's XXXtraordinarY Cause will honor a child in the local community (Red Hook/Rhinebeck/Pine Plains, and surrounding area) with a rare disease or syndrome at A Rare Affair, our annual event. Half of the profits from this event will go to The Focus Foundation (the first and only research-based agency exclusively dedicated to identifying and assisting families and children who have X & Y Chromosomal Variations). The remaining half of the profits will either assist in the medical expenses of the child we honor, or go to a foundation that supports awareness and research for their specific syndrome/disease.