Our families are the heart of Dup15q Alliance. In fact, the Dup15q Alliance was built throughout the years by driven parents with a goal of providing support and investing in research to create a better tomorrow for all families affected by dup15q syndrome.
Whether you are a new family, have been engaged in the alliance for a while, or watch from afar, we want you to know we are here to support you. We are parents, grandparents, professionals, and advocates providing support for patients, families, and caregivers. We are passionate about personal connections, family support, community awareness, and scientific research.
We hope you continue to be inspired by all that is happening at Dup15q Alliance. We have exciting plans for 2023 – please help us keep up our momentum by making a gift to our annual campaign before December 31st.
COMMUNITY SURVEY
We know that every family’s dup15q syndrome journey is unique, which is why in 2021 we surveyed our community on their needs, allowing us to expand our programs and services to meet the evolving needs of our families. We asked you, our families, to rank the top two most important priorities for the Alliance to focus on in the coming.
Here are the results:
Research 72%
Clinics 71%
Support 68%
UPDATED HEALTHCARE NEEDS
We have recently updated the Healthcare needs for individuals with dup15q based on the most recent NIH 15q Duplication Syndrome Gene Review as well as recent research publications. It is important to acknowledge that there is a wide range of developmental disabilities experienced by individuals with dup15q syndrome.
To establish the needs of those diagnosed with Dup15q syndrome, a complete review of symptoms, physical examination, assessments of possible feeding difficulties associated with hypotonia, neurologic examinations including assessment for seizure activity and baseline EEG, and consultation with a clinical geneticist and/or genetic counselor are recommended. A need for ongoing specialist care is frequent.
It is suggested that a multidisciplinary team evaluate infants for motor and speech development and later assist in referrals for appropriate educational programs. Supportive care may include: occupational and physical therapy, alternative and augmentative communication, behavioral therapy (e.g., applied behavioral analysis therapy), psychotropic medications for behavioral manifestations, and standard management for seizures. It is also notable that behavioral changes may be indicators of physical problems such as constipation or pain. Individuals with Dup15q syndrome should be carefully examined if there is an acute change in behavior. It is recommended that periodic surveillance be conducted for neurodevelopmental and/or developmental/behavioral, and monitoring for evidence of seizures and/or change in seizure type.
This information is not intended to, nor does it, constitute medical advice for treatment or otherwise. Ultimately, the course of action in treating a given patient must be individualized after a thorough discussion with the patient’s physician(s).
CONNECTIONS, EDUCATION, AND EVENTS
We know the importance of connections and creating a community where families can ask questions, learn about dup15q syndrome, get involved and advocate for families affected by the syndrome. We hope that as part of Dup15q Alliance you will find friendship, support, answers, and hope.
Each Month Dup15q Alliance Offers Connection Chats, in addition to sharing educational webinars and in-person events.
You’re Invited to the 2023 Dup15q International Family Conference
Sonesta Hotels and Resorts
Nashville Airport
600 Marriott Drive, Nashville, TN 37214
Registration opens in early 2023.
GET INVOLVED
Dup15q Alliance would not exist without all of our community volunteers! Founded by a handful of concerned parents in 1994, today we have over 2200 registered families. With the help of these families and their supporters we’ve organized numerous conferences, facilitated the creation of dup15q clinics, advanced research into dup15q syndrome, made progress in governmental advocacy, and held dozens of fundraising and awareness events. Thank you to those who generously give both their time and financial support to help Dup15q Alliance grow.
SHARE YOUR FAMILY STORY
“Life with Extra” looks different for every family. While each individual with dup15q is unique, the Dup15q community experiences ‘Life with Extra’ on a daily basis…extra services, therapies, medications, expenses, one on one time, doubt, anxiety, and concern. But with this also comes ‘Extra’ love and support.
Sharing your family story is one of the greatest gifts you can give. Your story is vital to raising awareness, understanding, and compassion, as it helps people feel connected and impacted. You are an empowered activist changing the future!
Share Your Family Story!
Sharing your family story is one of the greatest gifts you can give. Your story is vital to raising awareness, understanding, and compassion, as it helps people feel connected and impacted. You are an empowered activist changing the future!
Blog Spot – Super Duper Coral
Coral and Our Family Our daughter, Coral, was born on July 28th, 2016. Three days later she stopped breathing. After numerous tests that returned as “normal”, the genetic testing report showed that she had a rare chromosomal duplication, Dup 15q. Dup 15q is...
Reid – Family Story
Hi Kelly & Adam, we’d love for you to start by introducing yourself. Our son Reid was diagnosed with Dup15q Syndrome in July 2021. He was 2.5 years old and we finally had an answer after about a year of knowing that something wasn’t quite right. The genetic test...
