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

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

Awareness. Support. Research. 2/23/2013

(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!