Jonathan is a wonderful happy young man. He was diagnosed at about 1 year with dandy walker malformation being the closest diagnosis they could kind of find for him. At 2.5 he had his first seizure and at about 9 years of age they began to get out of control with a VNS put in in 2006 to help try and gain control of the seizures. The VNS along with various types of medications seemed to help and give him some life. Intermittently during this time he would have these 8 – 12 month periods of unexplained loss of physical ability, speech, and overall quality of life. They were often accompanied with more seizure activity. Although no one could explain the why’s of it, he would always seem to bounce back.
In October of 2011 amidst some of his ‘loss of ability’ he had a rapid decline of his entire function. He started having thalamic storms, raging episodes. He was hospitalized for 3 months and between UCSF and childrens hospital no one could seem to explain his body shutting down. In November of 2011 it was discovered that he had hydrocephalus and a shunt put in. In 2012 it took months of recovery but he seemed to find a new baseline normal. In spring of 2013 a certain medicine was stopped as no one thought it to be making much of a difference, in just a few weeks he experienced a rapid decline in function. By mid august he was admitted to children’s hospital where extensive work ups could not explain why and what was happening to him. In order to preserve his breathing, he was transferred to Stanford where after many days and teams of doctors trying to discover what was going on, and where we had gotten to the point that we were going to take him off of life support and let him go peacefully. One doctor tried Sinemet – a med used for the treatment of Parkinson disease. Although he didn’t have that they thought he might have dystonia. In the 24hours after being put on the medicine he had a remarkable recovery and was taken off life support and had movement that he hadn’t had in months. We went home and he did really well. In 2014 he had a couple setbacks and additional month long hospitalizations that included treatment for cellulitis in his knee, pulmonary edema, injury to his urethra, which has caused a neurogenic bladder. They additionally found out thru new genetic testing that he has a tubb3 mutation – a missense of the 292g gene. There are only a few diagnosed cases of this and it lends itself to some of the dandy walker brain issues, in that discovery they found out that he is currently the only one who has a 292t gene. All that said, he has a greater quality of life and is dependent on the Sinemet for every day life.
He is a happy young man, who loves to smile and give people flowers. He adores music and people and digging in the dirt!!! He has brought us nothing but joy and was able to be the best man in his older brothers wedding last year. Every moment we have with him is to be treasured. We have no idea what the future holds but our goal is to make as many memories with him as possible. Thank you to Sweet Nectar and the beautiful gift they have given us in these photos.” -written with love by Karen Garcia (Jonathan’s Mom)
photography by Brittany Wilbur
