EXPANDING OUR FOOTPRINT AND SERVICE TO OUR COMMUNITY As 2019 comes to an end and we are quickly coming upon a new year and a new decade, the volunteer team here at the IMDSA would like to highlight some of the accomplishments from this past year with you. None of this would be possible without the continued support of ALL of our volunteers, parents, self-advocates, researchers and partners who have committed to donating their time to continue our mission of promoting awareness, fostering research and providing support for the mosaic Down syndrome (mDs) Community. We are a small community, but we are making a huge impact!

SUPPORTING OUR COMMUNITY For many, receiving a diagnosis of mosaic, translocation, or mosaic translocation Down Syndrome comes with many questions. In the past, information and support was rare, given that only approximately 2%-4% of the total Down Syndrome community population falls into this category and given the variability and often delayed diagnosis for individuals in our community. The IMDSA has made significant strides in changing that by providing various efforts to reach out. In 2019 we were able to increase of scope of support to our community with the following efforts:  2019 Research and Retreat: We were able to get over 38 families, researchers and self-advocates together at Jellystone Park in Cave City, Kentucky for several days of making connections and participating in research. With the generous sponsorship and private donations IMDSA was able to sponsor 4 families to attend our R&R this past summer in Cave City, KY. We hope to be able to do that again for 2020.  Virtual Meetups: We hosted our first Virtual Meetup via conference call. We plan to do more in 2020 and expand the scope of topics. We always welcome your input on future topics. Parent Swag Bags: We mailed 17 new parent swag bags to all our new families that received a mDs diagnosis, FREE. It's our goal to make sure any new parent knows that they aren't alone a raising a child with mDs. We want to thank one of our self advocates Rachael Peace who helps mail these swag bags out to the new families!  We hope to double that in 2020!  Facebook Birth Club Groups: We started private birth clubs within Facebook. Now families can connect with other families that have kids close in age. This will allow for an opportunity to discuss and share challenges and successes as well as further foster supports systems for communities. Dads Facebook Group: We established a group on Facebook for Dads of children with mosaic Down Syndrome to provide another venue for support to our community.

PARTICIPATING IN RESEARCH

The IMDSA continued to partner with a core team of researchers on studies that will   benefit the full spectrum of the Down Syndrome community. We sincerely ​thank our core group of researchers for all their efforts and their support, specifically Dr. Colleen Jackson-Cook and Dr. Ruth Brown, who volunteer their time to assist on grant proposals, ​attend conferences with our team, and ​speak directly to members of our community. We look to develop and ​expand our relationship with the research ​community; but none of our success would be possible without our core team of research partners.  We would also like to thank all of the self-advocates and parents that volunteered to participate in these research studies as your participation is pivotal to ​the success of these programs and progress in the field. 

Several of the research studies include:

New Cell Line Study - NIH Funded Research Project entitled, “Generation of isogenic trisomy 21 iPSC resource”, led by Colleen Jackson-Cook (Virginia Commonwealth University) and Anita Bhattacharyya (Waisman Center, University of Wisconsin-Madison).

While we have known for many years that people with Down syndrome, or mosaic Down syndrome, have an extra chromosome 21 in at least a portion of their cells, we still have limited knowledge about how this extra chromosome causes the health and learning problems experienced by people with this condition. Animal studies have been helpful in providing insight, but some of the complex traits associated with Down syndrome (or mosaic Down syndrome) cannot be fully reproduced with animal models (usually mice) since there are many differences in how the brain and other organs function between humans and other animals. Studies looking at humans have also been helpful to gain knowledge, but sometimes the information can be difficult to interpret because of the large number of differences in the genetic backgrounds from one person to another. One powerful approach that Drs. Jackson-Cook and Bhattacharyya are using in this new study is to create cell lines from people with mosaicism for trisomy 21.

Since people with mosaicism have both trisomic and disomic (normal) cells that are genetically identical, except or the presence or  absence of an additional chromosome 21, they provide an ideal model system for recognizing trisomy 21-specific changes in cells. The types of cell lines that this team is creating are called “pluripotent stem cells”, which means that researchers can add reagents in the lab and convert these cells (originally collected from blood or skin samples) into cells that mimic the functions of any organ (including brain, heart, etc). Prior to this project, there was only 1 pluripotent stem cell line available to researchers that was derived from a person with mosaicism. This team plans to create 6 new cell lines and will make these cell lines readily available to scientists to help advance research related to Down syndrome and mosaic Down syndrome.

Dr. Jackson-Cook and Bhattacharyya presented this project at the T21 Research meeting that was held in Barcelona in June of 2019 and have received several requests from investigators who are excited to use this valuable resource to move the research field forward. These researchers are continuing with the recruitment of participants for this study, with people who have approximately 50% of their cells with trisomy 21 being especially helpful for this project. 

 Cryptic Mosaic Down Syndrome Study  “Cryptic” is a term that is not often used and is defined as something that is “obscure” or “camouflaged”. The leadership of the IMDSA receives many questions from individuals, worldwide, regarding the possibility that an individual might have mosaic Down syndrome that has gone undetected (or camouflaged). Typically, these inquiries are received from a parent(s) having a child with developmental delay and other health problems. Many of these parents have experienced an “odyssey” that has involved visiting numerous health care providers to try to understand the cause of their child’s conditions, but have been unsuccessful in gaining a diagnosis. As a result of this uncertainty, the parents are frustrated and fearful that their child may not be receiving optimal health care and/or behavioral/educational interventions.

Through the generosity of donors contributing funds to the IMDSA, our group has been able to initiate the Cryptic Mosaic Down Syndrome Study. Queries similar to the one described above are reviewed by an IMDSA volunteer (Megan Shoup) and Dr. Colleen Jackson-Cook to determine if the individual is a good candidate for this study (review of the child’s physical findings, medical history, and previous test results). To date, 6 families have participated in this study, with the costs of the testing being covered by the IMDSA (through donations). These evaluations have resulted in the identification of one child who has low level mosaicism for trisomy 21; one child who has a different chromosomal condition (but now the parents have answers for why their child has health and developmental concerns); 3 children who did not have mosaicism (but now know that this is not the cause of their child’s problems); and one child who meets the study eligibility criteria, but has not yet provided a specimen for testing.

Through this program, IMDSA personnel have also been able to route individuals to appropriate health care services to enable them to gain knowledge that could help with the management of their child. This study is just one example of how IMDSA (through the generosity of donors) is helping to make a difference in people’s lives

LEAF Study – Dr. Ruth Brown’s study (Life Experience and Feelings study)  is now fully funded by the National Institute of Health (NIH). She currently has 37 participants. The  goal of this study is to get at least 75 participants with mosaicism for Down syndrome by June 2020.  To make sure that goal is reached, Dr. Ruth Brown is traveling across the country to meet with families. She has several dates and locations already planned. For more information, please click link to learn more. https://www.imdsa.org/sys/website/?pageId=1851856 Other Research Activities - In September, Dr. Colleen Jackson-Cook represented the IMDSA at a 2-day NIH-sponsored workshop entitled, “Planning a Virtual Down Syndrome Cohort Across the Lifespan”. This workshop, which was led by Melissa Parisi of the NIH, provided the starting point for enhancing research on Down syndrome. In ​a follow-up to this meeting, Dr. Jackson-Cook is now representing the IMDSA as a member of several international scientific committees that have been created  to address existing needs in the field, including (but not limited to):  Identifying a minimal common data set for research Establishing optimal practices for the collection of research specimens and establishment of biobanks Identifying existing cohorts (with Dr. Jackson-Cook’s mosaic Down syndrome repository being recognized as a research resource)  Enhancing community outreach efforts. The personnel of the IMDSA and their scientific advisors have also been active in identifying collaborations with new research teams, including a group at the Massachusetts Institute of Technology (MIT) that includes Hiruy Meharena. They have also continued their collaborations with Stephanie Sherman’s excellent research team at Emory University, and the research team at the Linda Crnic Institute for Down Syndrome, who are leading the Human Trisome Project (the Executive director of the Linda Crnic Intstitute is Dr. Joaquín M. Espinosa). The IMDSA also deeply values our collaborations and the sponsorships that have been provided by the Global Down Syndrome Foundation, LuMind IDSC Foundation, specs4us, and Mass ​Mutual.    I                                                                              PROMOTING AWARENESS  We were able to have a presence in several conferences across the US in 2019 including the following:                                National Down Syndrome Congress Convention in Pittsburg, PA Massachusetts Down Syndrome Congress Conference in Worcester, MA Attending these conferences ​allows us to meet new families and create broader awareness to other organizations about mosaic Down syndrome and the goals of the IMDSA. This awareness allows for educators, medical professionals, as well as state, local and other DS organizations to look to the IMDSA as a resource for questions on the diagnosis and a source to connect families receiving an mDs diagnosis.     THANK YOU FOR ANOTHER GREAT YEAR! It is critical to emphasize that the IMDSA is an all-volunteer virtual organization made up of a small group of volunteers, including parents, self-advocates, researchers and core allies. We thank all of our volunteers and active supporters for your contribution to the success of the achievements for 2019! Your input, including all your fundraising efforts and donation of time, is critical for our continued growth. As we enter a new decade, we are committed to building on this success and your continued input and support is critical. The year 2020 will be our 21st year, and we are proud to continue to pursue the goals in our mission. We look forward to seeing many of you in Brea, California for our next Research & Retreat in July 2020!  For more information on the 2020 R&R please go here    Please feel free to reach out to us with any questions or activities that you would like to see us consider in the coming year.  Also, please consider donating to the IMDSA as a part of your year-end gift giving. Your contribution is critical to maintaining the programs we are able to provide. We sincerely appreciate your consideration.               We are a small community, but with your support, we will continue to make a huge impact!