Gianluca Hill

My son, Gianluca, started with diagnostic testing, bloodwork, and specialist visits at just 7 weeks old. At first, doctors thought he had a birth defect in which the bones in a baby’s skull join together too early causing limited space for the brain to grow. Thankfully that was ruled out. Then we discovered he had mild hearing loss. No one could explain why. Then we started noticing quite a bit of developmental delay with his gross motor skills (rolling, then crawling, then walking) and his speech. After visits to many more specialists and 2 different rounds of genetic testing, we finally had a diagnosis that explained everything. My son was diagnosed with a very new, very rare genetic condition called ADNP (Activity Dependant Neuroprotective Protein) syndrome. I was relieved to get a diagnosis so that I can make sure my son gets the best care and therapies to progress, and I have an idea what to expect for his future. Although the road ahead will continue to have potential health risks for him, I am so thankful that, through lab testing, I now have a diagnosis for my son.