And there it is...
Punnett Squares? Let's use hemophilia as an example. A person with hemophilia has to have both parts of the gene (hh). A person who doesn't carry the gene for hemophilia will be NN (for normal). A person who does carry the gene is Nh, but remember, both halves of the gene are required to have the disease, so Nh is a carrier but doesn't have hemophilia. Say NN and Nh got together and had a child, the child would either be NN or Nh but he wouldn't have hemophilia. Let's say the parents were Nh and Nh. The child could be NN, Nh, or hh.
We have been asked by TCH and Baylor to participate in research to study the ASXL3 gene. So far there have been two more little girls with a similar mutation to the same gene. One is in Germany and one is here in Houston! At the very SAME clinic! So if you happen to the the mom whose daughter has a ASXL3 mutation, PLEASE CONTACT ME! Hopefully this research will help other parents to understand what their children with this mutation need, like early intervention speech therapy, augmented communication devices, physical therapy, etc. They can look to Della's life and know what to expect. I still hope that we can find someone who is 20 or 30 years older than Della and has the mutation. As honored as we are to be "pioneers," finding someone who has walked the path before us would be a great blessing.
Note: I wrote this back on August 6, 2012 which was the day we met with a large team of doctors at Texas Children's Hospital and got Della's genetic results back. It really has taken me all this time to process this information. Now when ASXL3 is searched, this post will come up (instead results solely made up of genetic testing done on rats).