mDs Newsletter - January 2023
Happy New Year! We can't wait to see you at the 2023 Research & Retreat in San Diego, CA this summer! The IMDSA Newletter is published 4 times per year: January, March, June, and September. If you are a self advocate living with mDs and would like to share your story in our newsletter, please contact me at: Margaret.Hamburger@gmail.com.
2023 Research & Retreat - San Diego, CA - July 27-30
Mark your calendar to attend the 2023 Family Research Retreat in sunny San Diego, July 27-30. We have got an amazing retreat planned! We will gather on Wednesday evening (July 26th) for a welcome reception at the Residence Inn San Diego La Jolla. On Thursday and Friday informative workshops will be held at the University of California San Diego campus by leading experts in various fields. Lunch will be provided on Thursday and Friday. You may participate in research on Thursday or Friday evening or Saturday morning.
Registration Opens March 6
On March 6th, IMDSA R&R Registration will officially open. The cost to attend is $225 per family, or $105 per individual. Registration includes: Family Welcome Reception, 2 day Conference Workshops & Lunch (provided both days) , Family Research and a Pizza Party Celebration. Look for an email reminder to register starting March 6 along with our complete agenda and speakers. Conference Registration does NOT include hotel accommodations. A block of hotel rooms have been negotiated for IMDSA families at the Residence Inn San Diego La Jolla, CA. Scholarships will be awarded to two qualifying families.
Book Your Hotel Room Now to Secure hotel discount!
A special IMDSA room rate (1 King Bed with Sleeper Sofa (non-smoking) $299 USD/Night) has been negotiated with the Residence Inn San Diego La Jolla, CA.
A block of rooms have been reserved for IMDSA families that choose to arrive and depart between July 25, 2023 - July 30, 2023. The parking fee has been discounted to $18 per vehicle daily. The room block is limited, so book now to make sure you have your family's accommodations to attend the 2023 Research Retreat.
The IMDSA room rate is available until June 24th or until the group block is sold-out, whichever comes first. Each suite features a king size bed and sleeping sofa, a dining and sitting area with a fireplace, a kitchen that includes a microwave and dishwasher, a flat-screen TV and FREE Wi-Fi. A breakfast buffet and evening reception are offered guests Monday through Thursday. A grocery shopping service with a 24-hour marketplace is offered. Access to fitness center and business center is available.
Residence Inn San Diego La Jolla
8901 Gilman Drive La Jolla, California 92037
Family Scholarships are Available
Due to fundraising and sponsors, two lucky families will be awarded scholarships to attend the 2023 Research Retreat. Each Family Scholarship includes: Family registration (limited meals are included) and hotel costs (Wednesday, July 26 thru Sunday, July 30, 2023 only!). All other meals, activities, and travel costs (airfare, rental car) are not covered by the scholarship. The application deadline to apply is March 31, 2023. We encourage qualifying families to apply.
Research Opportunities at the Retreat
IMDSA recognizes that there is very little information on mosaic Down syndrome. The only way to discover more about this rare form of Down syndrome is through research. IMDSA works with various researchers to discover more about mosaic Down syndrome. If you are a parent or an individual with mosaic Down syndrome, you might consider participating in one of our Research programs.
More information will become available in March.
Crypto mDs Study is Actively Recruiting
The IMDSA is collaborating with Colleen Jackson-Cook, PhD to conduct the Crypto mDs study and is actively recruiting new participants. The primary aim of this study is to determine what percentage of individuals who have traits similar to those seen in people with Down syndrome and previously normal chromosome test results but actually have undetected mosaicism. While most people with mosaic Down syndrome are recognized through routine chromosomal testing, some individuals experience a diagnostic journey before mosaicism is finally recognized. If you know of someone who would might benefit from participating in this research project, please share this information.
Eligibility criteria are:
1. Individuals must have been evaluated by a geneticist/dysmorphologist if specialist is available in their geographic area
2. The individual must have received a previous “normal” chromosome (or microarray) test result
3. The parent/individual must provide a history of the evaluations that have been obtained for the study participant and
4. The parent/individual should provide a list of traits leading them to suspect a diagnosis of mosaic Down syndrome
More Information about this study can be found on the IMDSA website: http://imosaic Down syndromea.org/cryptic-mosaicism-study.
Dr. Jackson-Cook, who is an American Board of Medical Genetics and Genomics certified clinical cytogeneticist and PhD medical geneticist, has evaluated people with mosaic Down syndrome for many years. Summary Results from this study can be found here:
2023 Photo Awareness Campaign
It's time to send in your photos for our 2023 mDs Awareness Campaign. The Awareness Campaign runs every year through the month of March to celebrate World Down Syndrome Day and raise awareness of individuals born with the condition know as mosiac Down syndrome. Our 2023 goal is to release 1-2 photos and captions each day to surpass the number of images shared in 2022 when 80 families participated. If you would like to raise awareness of yourself or your loved one, please submit a photo along with a favorite quote.