You guys!! It’s another week closer to summer vacation and I’m not even close to ready!! This week especially has been riddled with curve balls, mostly good, so I’m not complaining but a few that needed some attention. One of them is the cause I’m highlighting today. You’re probably wondering what the hell 48XXXY means! Well I’ll tell ya, it’s a rare genetic syndrome in which males have two extra X chromosomes. And my little cousin Colton has it and was diagnosed with it last year. Colton’s deficiencies were caught early on by his parents, Michelle and Erik and they were addressed immediately. Boys who have 48XXXY have physical struggles due to low muscle tone, complications with language and speech, developmental and behavior problems, and varied health issues. Colton is extremely fortunate in that he has available to him the best doctors and therapists working in this very, very small field. They’ve been able to consult and work with Dr. Sprouse, a X & Y Variation Specialist located in Maryland (Colton lives in Upstate NY) via the Focus Foundation. We are encouraged by Colton’s progress and know it’s due to the early detection and attention he has received.
Michelle and Erik have been working tirelessly to create a foundation in Colton’s name to raise awareness around his genetic syndrome. They’ve launched Colton’s XXXtraordinarY Cause which aims to spread awareness of 48XXXY and other X & Y Variations, as well as assist with the medical funds of children who are battling rare diseases and/or syndromes. While Colton’s specific syndrome is rare, current research indicates that 1 in 500 births have X &Y Chromosomal Variations. Of those born with this variation, 7 out of 10 children will never be diagnosed and therefore will not receive the appropriate treatment. A lack of diagnosis and treatment can leave children struggling with learning disabilities, language impairment, motor planning deficits, reading dysfunction, attention disorders and behavioral problems that will affect them for a lifetime.
During Colton’s journey to diagnosis, Michelle joined a private Facebook Group created for support and information sharing about 48XXXY and she has cultivated friendships with other mom’s who are having a similar experience. That’s where she met Kaitlin, mom to Wylie. Wylie is a 2 year old boy living in Colorado who was diagnosed with 48XXXY last year (around the same time as Colton). Kaitlin seemed lost when it came to treatment for Wylie. Her local doctors were not familiar with 48XXXY Syndrome and advised her to see specialists. Kaitlin contacted a doctor on the west coast but they were not able to fit Wylie in for several months. Michelle urged Kaitlin to contact Dr. Sprouse and make the trip to Maryland. She was dedicated to trying to make the trip with Wylie, but she wasn’t sure if it was realistic for her. Kaitlin is a single mom, studying to become an EMT without a stable income who did not have the resources to get to Maryland. Michelle reached out to another mom in the group for help. Together they pooled some resources together and were able to cover the flight and hotel for Wylie and Kaitlin to go to Maryland. They were able to get some really great medical treatments for Wylie by taking the trip, but since then they have learned that Wylie has a brain tumor. The neurologist in Colorado was not able to give her any clear cut answers as to what they should expect. The don’t know if the tumor is stable, or if it will continue to grow. Continuing growth will further impact his development or possibly cause death. The doctors are now calling it a waiting game. The X&Y specialist in Maryland has arranged for Wylie to see an endocrinologist and neurologist that she works close to at Children’s National in Washington DC at the end of June (like RIGHT NOW).
Wylie needs our help. As a mother, I have one major fear. Not being able to help my children if they were to become sick. Helpless is not something I can relate to and I don’t believe any parent can when it comes to our children. We want to fight for them every single day. If there’s a will, there’s a way. Well, there IS a way for Wylie. Michelle and Erik launched Colton’s XXXtraordinarY Cause just this week in conjunction with his Second Birthday (Happy Birthday Colton!!) via a fundraiser. They are taking all of the money from this fundraiser and supporting Wylie and Kaitlin so they can make the trip to Maryland to see the specialists Wylie needs. The details of the fundraiser are here: Colton’s XXXtraordinarY Cause you can buy a tee shirt for a very reasonable $18 or make a flat donation to supporting Wylie on his medical journey.
Today is Pay It Forward Friday – if you’re a follower of this blog you know Friday is dedicated to giving back, to making a difference no matter how small. Sometimes I ask to pay it forward by doing a good deed, giving a hug, making a new friend…but today I ask for a donation. NO PARENT SHOULD EVER HAVE TO STRESS OVER HEALTHCARE FOR THEIR CHILD. EVER. (yes, I’m YELLING!). One of the goals for WHY AM I YELLING? is one day have our own charity for these exact reasons. Until we can make that a reality, I will continue to highlight causes, especially for children that are imperative to contribute to. Today please give up your latte and make a donation to a VERY WORTHY cause. For more information on X & Y Syndromes go here http://www.thefocusfoundation.org/
Please share this message wtih your friends…48XXXY is a very rare syndrome and it needs some attention! These are the boys you’re helping…Colton on the left and Wylie on the right.