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Tuesday, October 8, 2013

Episode 106 (Epilogue): Down Syndrome

October is Down syndrome Awareness Month. There are three types of Down syndrome: trisomy 21 (a condition where individuals have 47 chromosomes in each cell instead of 46 as a result of nondisjunction) accounts for 95% of cases, translocation (occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome) accounts for about 4% of cases, and mosaicism (some of the cells contain typical chromosome amount, others have an extra) accounts for about 1% of cases. Each type occurs as a result of an extra copy of the chromosome 21. 

We first talked with Dr. Melissa Crenshaw, a pediatric clinical geneticist, about different types of Down syndrome, unique health risks of the Down’s population, and genetic screening options. Additionally, we discussed the new technology that has been shown to silence the chromosome responsible for eliciting the effects of Down syndrome. She informed us that this silencing technology is using the same naturally occurring process that silences the X chromosome in women, but that it is too early to accurately gauge the possible medical and health outcomes resulting from this treatment.

Next, we spoke with Anne Hathorn and Lisa Underwood, both mothers raising children with Down syndrome. These mothers were kind enough to share with us their birth stories, the way in which they were told that their children had Down syndrome, what resources were/are of particular help for them, and how their children have enriched their lives. Furthermore, Lisa Underwood shared with us information about Manasota BUDS, a group dedicated to Down syndrome advocacy. Manasota BUDS offers a support group for new parents of Down syndrome babies, a teen group, art therapy for children, a dad’s group, a lending library, scholarships for kids to attend camp or for people to attend meetings and conferences, and a group for pregnant women among the many resources they offer. They also offer informative kits to pregnant women who have had prenatal testing and diagnosis as well as new parents of Down syndrome babies, with books, videos, and information. On Saturday October 19th Manasota BUDS is holding the 12th Annual Buddy Walk, a walk for raising Down syndrome awareness! 

To learn more about Manasota Buds, visit
Birth in the News:

Links we mentioned on the show: (Lisa Underwood's advocacy group) (Down Syndrome Necklace)

From Melinda Coulter, Florida Agency for Persons with Disabilities: - this is the national organization - this is a Pinellas chapter - family network on disability - Project 10 (transition education network) - Florida Developmental Disabilities Council - Florida Developmental Disabilities Council’s publications page (check out child development section)  another good resource on their list is Planning Ahead - Florida’s Early Steps program through Children’s Medical Services (dept. of health) - Early Steps Provider Relations Liaisons by region in FL

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