At Jacob’s two-month check-up, his pediatrician noticed Torticollis and Plagiocephaly and she referred us to physical therapy. We had an evaluation the next day with a physical therapist, and she noticed that he had nystagmus in his eyes. Our physical therapist spoke with our pediatrician, and we were referred to neurology. We originally were told we would have to wait four months for an appointment, but our pediatrician called on our behalf and they managed to fit us in that day. The neurologist agreed that something was “off” with his eyes, and he wanted an MRI done. When we went for the MRI, the findings came back as normal. We felt a huge rush of relief until he began having seizures.

     His seizures began three days before the end of my maternity leave, and we immediately were admitted to the hospital for three days. His seizures prompted them to send out the “seizure panel” of genetic testing. After a few weeks, I received a call from the neurology department, and they asked us to come in that day to discuss the results and we were then informed of his diagnosis of ADSL deficiency- Type I. That appointment was the worst hour we had ever experienced, and we were given no additional resources or options, we were simply told there was no treatment or cure and that we would follow up with our neurologist in two months. 

     Jacob’s diagnosis turned our whole world upside down and everything changed in that single moment. Our family is incredibly fortunate that we have an amazing support system, especially when Jacob’s daycare decided that they could no longer accommodate his medical needs. We completely understood, but we did not have a lot of options as there are no specialty daycares or schools in Connecticut for children under three. Jacob’s grandmothers both decided that they would care for him so my husband and I could continue to work to support our family and we are so grateful for this incredible gift they have given us. We also have developed a wonderful system in his medical providers, however this one took a little work.

     We simply were not receiving the level of care that we knew Jacob deserved, so it took some time and advocating to get him what he needed but we now have an incredible team of providers who are dedicated to helping our family. All these people make up what we call Team Jacob. 

     The best word to describe life with Jacob is unpredictable. One of the things we have desperately been trying to manage is his neuro-irritability and despite the best efforts of our providers, we simply haven’t found something that consistently works for him. He will have some days where he cannot seem to settle within his own body, and he will cry and thrash all day long and there seems to be no rhyme or reason to what causes this. Some nights he will sleep mostly through, some nights he won’t even make it to midnight. This makes it very hard for our family to function, but we get through it together and our unconditional love for him fuels us through the most difficult times. We have no idea what the future holds for Jacob, but we will do anything to help him, and we will never stop looking for answers!