Is there any medicine for developmental retardation caused by gene?

Posted by sunricez @sunricez, Aug 21 4:42am

My daughter is 4 years old. She grows very slowly, not only moving ability but thinking ability . She start to walk after 2 years old , and can make different noises by now but never say a single word like "papa"or "mama" . She knows some words we speak and could obey some simple orders. The gene examination shows that there is a problem in the gene ARHGEF9 protain transmission or sth like that. I wonder if there is any medicine or therapy could improve her progress of glowing? The only thing I hope is my girl could take care of herself when she getting older. Thanks very much.

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John, Volunteer Mentor | @johnbishop | Aug 21 7:30am

Hello @sunricez, Welcome to Connect. I can't imagine how difficult it must be for both you and your daughter. You are not alone with your concerns for your child and I'm hoping other members may have some experience with such a rare condition as ARHGEF9 gene mutation. I was able to find some research on the condition that might be helpful including the following story.

-- Ivan's Story - ARHGEF9 Gene Mutation: https://www.rarediseaseday.org/heroes/ivans-story/.

I also found another site - Simon's Searchlight, that has some support and other information to learn more about the condition that might be helpful: https://www.simonssearchlight.org/research/what-we-study/arhgef9/.

I did see a few research study opportunities in the Simon's Searchlight link above. Have you looked into any research opportunities for treating your daughter?