Joel’s Story
Joel was diagnosed with a POGZ mutation in January of 2015 and ended up being one of the 5 patients mentioned in Dr. White’s initial research paper.
He’s had an interesting life, to say the least. Our first adventure began when he was only 5 weeks old. While he had low tone and feeding issues from day one, when he was 5 weeks old he stopped breathing and went cyanotic, and we went to the ER for the first (but far from the last) time. Originally diagnosed with acid reflux, he was eventually diagnosed as having partial complex seizures in his left temporal lobe (that’s why he stopped breathing). He also has dysphagia and aspiration problems which resulted in putting in a feeding tube, sucrase isomaltase deficiency, global delay, hypotonia, developmental speech disorder, autism, sensory integration dysfunction, impulse control problems, combative and destructive behaviors, chronic sleep problems, hyperopia (his prescription is +6.5) and assorted GI issues. The list goes on.
He has been hospitalized several times for vomiting and a lack of bowel sounds. We always thought it was due to his sucrase isomaltase issues (he can’t process sucrose or maltose sugars), but with so many parents talking about CVS, we are going to have to take a good long look at that too.
His physical attributes include a flat nasal bridge, microcephaly, overly large toes, a bifid uvula, very early (1 month) closure of cranial sutures and soft spot. He was also tongue-tied at birth and experiences occasional bradycardia (low heart rate).
His long-term memory (especially regarding his character toys) is extremely good, but he struggles a lot with short-term stuff, especially names. He also struggles very much with hoarding and transitions, as might be expected from someone with Autism. However, he is VERY loving and needs a lot of cuddles, which you might not expect from someone with Autism.
We never expected to have a community of parents and family members of people just like Joel. We’ve felt alone for over 7 long years thinking there was no one who could understand Joel. We are overjoyed to have found others who understand Joel’s struggles, and to have a name to put to what it is our son deals with every day. I teared up yesterday, because I truly never expected to have people to talk to who know what we go through every day, or to have folks to get ideas and advice from, or to be able to get an idea what the future holds for Joel through the stories of people with older White Sutton kids. With this foundation and the vibrant community springing up around White Sutton Syndrome (and with Joel’s continued progress) the future is bright!
