In October of 2007, Victor was seen at Wake Forest University Baptist Medical Center by a wonderful geneticist and genetic counselor. The visit was very comprehensive, and the doctor and counselor were very kind and caring toward all of us. They took many measurements of Victor, examined him thoroughly, and compiled a complete medical and developmental history. The doctor told us that she thought Victor had a genetic condition, and would have to take some blood samples to run a microarray analysis of his DNA. We had been planning to update our Caringbridge website in November with the results of this test, however the test came back negative. More tests were then ordered for Angelman Syndrome and Mowat Wilson Syndrome, which all came back negative. Then in February 2008 the microarray analysis was redone for Victor, using a new SignatureChip WG version, which was more comprehensive than the previous version run in October. In March our geneticist told us that they had found single copy deletion of Chromosome 18q21.2 - 21.31. This area includes the TCF4 gene, the loss or mutation of which is associated with a condition called Pitt Hopkins Syndrome. This diagnosis is extremely rare, with only a handful of people in the world so far diagnosed with this syndrome. The geneticist is very encouraged about Victor's development, and thinks he is making great progress. We are also thrilled about all the new things Victor is learning, and we continue to be amazed with our little blessing each and every day.
