Ok guys, I feel like I have been on an emotional roller coaster ride since I first wrote my post about Sean’s genetic diagnosis, 7q11.23 Micro-Dup Syndrome or Dup7 for short, a few weeks ago. While writing it, I realized I knew the bear minimum and had the hardest time get my thought together to share. My first thought afterwards was, “How can I fully share our story if I cant fully explain it to myself and family?” I then began asking myself, “Wait what is this 7q11.23 exactly? Why do I keep hitting these brick walls looking for information? Why can’t anyone explain anything to me? Why do I feel like my doctors cant answer my questions?” I felt and still feel like I need guidance!
So, my original post about Dup7 was really about me, talking through Sean’s diagnosis like I had never done before. I realized that I never fully sought out the information, before now, that I needed to help benefit Sean and our family for the long haul.
In the last few weeks I have became a woman on a mission. Thank goodness, I have an incredible research partner better known as, my mother, who helped me do some more in-depth research. In our week to two-week long journey (mind you this has been a very recent epiphany!), we ran into many brick walls and lot of the same information repeated over and over again. Again because Dup7 is such a new and rare diagnosis there isn’t a lot of research that has been done.
Thankfully, I finally found an amazing support group Duplication Cares. Duplication Cares is a none profit organization created specifically to provide support for families who have children diagnosed with Dup 7. It was created by mothers who have children that were the first to be diagnosed with . I promise you they were the answer to my prayers. I spoke to an incredible momma, Tricia Scott, who was able to fill me in on a few Dup 7 specifics. ( you can find them at http://www.duplicationcares.org)
1. There are only about 1000 known cases of Dup 7 (short for 7q11.23 micro-dup) known world wide
2. The first known diagnosed case was in 2005, only 13 years ago!
3. Primary issues:
Speech and communication delays
learning and behavioral disabilities
possible kidney issues
( this chart shows some of the different diagnosis that can be associated with Dup 7)
I think what I have loved most about finding Duplication Cares, is that I am finally speaking to mothers, from around the world, who have been or are currently in my same spot. Mothers who know the frustrations and concerns. These women are helping each other find answers, doctors, and treatments that will help our children live their best lives. I am beyond grateful for their help.
You might now be asking, what do I do with this information now, right? I have found a support group but what about doctors? That is exactly what I was thinking… I think as a special needs parent, you come to find out how hard it is to find help. Especially those of us who have kids with rare genetic disorders that doctors do not know anything about.
We (as their parents) are having to do most of the leg work in order to get the referrals we need to get our children where they need to go. This where I find myself currently at. Yes I have already seen a local pediatric cardiologist but who wouldn’t want their child to see the doctor who has already treated others with the same condition? With that being said, I have been in touch with Boston Children’s Hospital, University of Louisville, and now with a Doctor at Stanford University.
( I am shareing this graphic as well to show how a lot the same issues are found in Autism as well. Which, again, Sean was diagnosed with in May 2018)
I am hoping the doctor at Stanford, who is a pediatric cardiologist, can give us a little more insight on Sean’s current heart readings. We are also on the cancellation list to go back to the University of Alabama in Birmingham, as soon as possible to see the geneticist who originally saw Sean. Currently the only opening they have is for December.
We are also hoping to see a nephrologist here locally to get a base line check of Sean’s kidneys. We are also set up to see Sean’s neurologist next week to see if his genetic diagnosis changes any of the current treatment. (Which is to only see him if Sean is having some kind of issue or changes in his current behavior).
This where are at currently with all of Sean’s progress. Next week we start talking about school for when he turs three in January. Can I tell you how stressful that has made me! Anyway, I hope to give an update on how that goes and give you fellow moms and dads out there an idea of how that process goes. Until next time! I hope you ll have an amazing day.
Love- A gulf Coast Mommy