Site update..

I just wanted to let all of our visitors know- We will be updating this site over the next few months. Please come back and visit us again in the very near future to see all of our changes.


~~ Renee Wohlfarth



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Thank-you for helping us raise awareness for 2q23.1 Microdeletion/Duplication Syndrome!

Awed. Humbled. Thankful. Those are the closest words we can convey of how we are feeling as we look back on the amazing response from our friends and family for 2q Awareness Day. So many wonderful pictures. So many beautiful, touching, and encouraging posts. Our children have made tremendous progress this year and it is because we have such a supportive and loving group behind (and often times, beside) us.

There were over 1000 people in pictures from around the World on Facebook, Twitter, and Instagram, and over 900 visitors to this website. We accomplished our goal of raising the level of awareness and knowledge.

Thank-you so much for participating and helping us raise awareness for 2q23.1 Microdeletion/Duplication Syndrome.

~~~ The families

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2q23.1 Microdeletion/Duplication Syndrome Awareness Day


Logo created by Season Atwater

What is 2q23.1 Microdeletion/Duplication Syndrome? 2q23.1 Microdeletion/Duplication Syndrome is an extremely rare genetic condition that affects approximately 200 people worldwide. Cases have been reported in Argentina, Australia, Belgium, Belarus, Canada, China, France, Italy, New Zealand, the Netherlands, Spain, the United Kingdom, and the United States.

On February 23, we are holding a virtual World Awareness Day. Our goal is to reach out to the newly diagnosed with raising awareness about 2q23.1 Microdeletion/Duplication Syndrome.

How can you help? It’s easy. Find something blue to wear and take a picture of yourself wearing it. post it on one of our social media sites listed below, using the hash tag #2qworldawarenessday. Then share this information with everyone you know and ask them to do the same. With your help we can reach thousands of people.


Thanks so much!

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Updates Coming Soon!

Editors Note: I just wanted to give a heads up to all of our visitors – We will be undertaking many updates during the next several months. We encourage you to visit us again in the near future to see all of our changes :)

-Loren Pugliesi, M.S.G.C.

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2q23.1 Awareness Day

Awareness. Support. Research. 2/23/2013

awareness logo

(Logo created by the families of children with 2q23.1 deletion/duplication syndrome)

This year on February 23, 2013 will be the first annual 2q23.1 Awareness Day. With goals to educate the global community and promote AWARENESS of 2q23.1 Microdeletion/duplication Syndrome, we hope to find other families around the world with a 2q23.1 Microdeletion/duplication Syndrome diagnosis and offer SUPPORT. We wish to inspire medical professionals to RESEARCH 2q23.1 deletion/duplication syndrome, so that there can be a better understanding of symptoms and expected outcomes.

2q23.1 deletion/duplication disorders are extremely rare, with only around 70 documented cases in the scientific literature. These disorders typically fall into Autism Spectrum Disorder, which causes a lot of confusion. The chromosome mutations and symptoms have great variation in each child. Most commonly, children with this disorder experience seizures, intellectual disability, microcephaly (small head size), speech impairment, distinct facial features, and developmental delay. Even though these children seem widely spread throughout the world, and so few in number, more diagnoses are continued to be made at a growing rate. We need to spread awareness to the medical professionals to help assist in accurate diagnosis of children with these symptoms.  We need to spread awareness to geneticists so that research on 2q23.1 deletion/duplications can be funded. We need to spread awareness to families to help give support and a sense of community. And we need to spread awareness to society as a whole, to help make this disorder less misunderstood.

Check back soon for more details on 2q23.1 Awareness Day!

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Welcome to! This site is specifically designed for individuals and families experiencing life with 2q23.1 (MBD5) deletion/duplication disorders. We aim to provide educational materials, communication forums, and various resources for all types of questions and needs. To find out more about 2q23.1 disorders, please visit our “education” tab, as well as our “about 2q23.1 – frequently asked questions” link. For more detailed information, visit our “resources” tab to view helpful videos on basic genetics, read current findings on the MBD5 gene, and read scientific papers published on children with 2q23.1 deletion/duplications. We invite you to check out our family friendly “communications” tab to read personal stories, reach out to other families using our blog, and utilize our listing of additional support sites (located under our “resources” tab), including a mother’s personal journey, entitled “Lemonade Lifestyle”. We ask that you give us feedback through our “suggestion box” (located under our “communications” tab), so that we can make this site as useful as possible to our families, friends, and the general public!

Loren Pugliesi, MSGC – Website Creator

Sarah Elsea, Ph.D., FACMG – Website Supervisor

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