The Hoffmanns’ Journey with MED12-related syndrome

What do you do for fun?

Horse riding, ice skating, kayak paddeling, swimming, and hiking.

Tell us about the biggest hardship you face.

It is difficult to find others that are affected. There are various gene databases that are not networked.

What motivates you to participate in research? How has participating in research been helpful for you?

Identify possible causes and develop therapeutic procedures.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

It might be a real big fortune that we could find this.

What is one question you wish researchers could answer about this genetic change?

Are epigenetic research approaches imaginable that influence the sequence in MED12?

What have you learned about your or your child’s genetic condition from other families?

Unfortunately nothing up to now.

If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?

Share personal experiences and research.