Genetic Testing: A Waiting Game For Results

Pins and needles. That’s what we sit on as we once again wait for genetic testing results.

It's suspected that Brantley has a genetic condition beyond Autism. Despite extensive genetic testing, no definitive answers have been found to date. Many of his symptoms and characteristics resemble those of various genetic disorders, with Sanfilippo Syndrome being the closest match.

Sanfillipo is a rare lysosomal storage disease that is often referred to as childhood dementia because of its symptoms. Unfortunately, it typically comes with a short life expectancy. Previous testing found that Brantley did have a deficiency in the enzyme associated with Sanfilippo, however, his levels were higher than those with the condition, indicating he does not have this particular syndrome.

To our surprise, Brantley’s geneticist has issued new lab orders for additional testing, focusing on lysosomal storage diseases, including Sanfilippo.

We submitted a urine sample this week and additional blood will be taken during an upcoming surgery for more genetic analysis. Stay tuned as we await results and hope for more insight into the vibrant, blue-eyed boy who has our hearts.