Joseph's Genetics Appointment

Joseph had an appointment with a genetics physician today. He did have an evaluation in Atlanta, Georgia, and was found to be negative for Williams and DiGeorge Syndromes. Joseph's doctors in California felt it was valuable to have him followed also by the physician here.



The genetics doctor at Children's Hospital of Orange County (CHOC) said there was no need to repeat the blood testing, which we expected. However we did also find out some other information.



Joseph has Microcephaly and his brain growth is at a much slower rate than the norm. His Craniostenosis will not prevent brain growth in and of itself. His brain will continue to grow at its own rate, it would just cause his head to be mis-shapen. The Microcephaly and the Craniostenosis are separate problems though.



Joseph will also be referred to Endocrinology for his own very short stature, although that appointment won't happen for at least 3 months.



They also confirmed the diagnosis of Fetal Alcohol Syndrome, and that Joseph is on the more severe end of the spectrum. Having the additional report will also help for other services he needs.



We have found that Joseph really needs the very intensive one on one that he receives educationally being homeschooled.



Jennifer