This has been a big question asked many times on this site and rightfully so.
We all want our children to be healthy and have the best outcome in life. Yet we would never not want our child who has Pachygyria. We love them dearly. Do we have another child or play it safe without? How will we know?
The best way to find out is to have genetics done on your child. Talk with the genetic specialist who will be able to look at your history and the genetic test outcome.
I was already pregnant with Ashley when we found out Corey had Cerebral Palsy. It wasn’t till years later the final diagnosis was given or put into the words of Pachygyria. Ashley is a typical, healthy child.
We did do genetics on Corey to find out the likelihood Ashley would carry it on to her future children and I was interested in the research programs. Emory Genetics did the first test which was negative. Univ. of Chicago did the second test which was also negative. Dr. Dobyns research did several other tests which also came out negative. I think that was a good sign for Ashley being typical. It is likely that her children will also be typical. The doctors did not have information on what would happen if Corey had children. (2015 Corey has 2 GENE TUBG1 Lissencephaly mutation mild and SCN9A gene – first generation).
Later we found it was reassuring to family members who were contemplating getting pregnant and wanted to know if they could also have a child with Pachygyria.
On the other side, there are families that do have multiple children with Pachygyria. From my conversations with the research doctors, it seems the families with multiple cases have genetic markers found in the first test or two. India families that are intermarried have many children with Pachygyria and large families, sometimes 6 children with Pachygyria in one family. That is mainly where the researchers go for candidates to test. I have heard of a family in the US with multiple members having Pachygyria but I do not know if it was a mild case or the genetic results.
From the current families with mild cases on this site, they all have typical children beforehand and/or after.
It would be interesting and helpful for other families to add their point of view and information they have gathered on this subject. Thank you!
PS. If you do go through genetic testing, consider signing up for one or more of the Pachygyria research programs. It would be wonderful to have a cure or more readily available information on Pachygyria. Check into the research requirements first prior to doing the genetic testing. They may offer it for free or need a sample of the blood along with the results from the lab.