Extremely exciting and pivotal research for Sanfilippo syndrome coming out
of the lab of Alexey Pshezhetsky. This paper explains so much about the early
behavioral presentation of Sanfilippo syndrome. The paper deserves a blog to
help frame the findings. BTW, not all bad behavior stems from bad parenting.
Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptictransmission
Jonah was a runner, at one years old I could hardly keep up with him. Taking Jonah anywhere was terrifying. That kid would escape and be climbing up a guard rail before you even realized you weren't holding his hand anymore. Jonah was making all his milestones; we had no reason to suspect that something was wrong. He was hyper, but more than that he had no sense of danger.
Jonah was pushing 2, we had just received his diagnosis. The early days were hard on us. Jeremy and I thought we were going to watch him slowly die, but instead we were on constant suicide watch. Such insult to injury.
He once broke away from me at Prospect Park and sprinted towards Dog Beach, I jaunted along after him. Dog Beach was what the locals called the swimming hole for dogs, it was a smallish pond that was not railed off. You could walk right into it from land. I had his stroller with me, so I couldn’t run fast, I thought surely, he wouldn’t run into the water. When he made no sign of slowing down, I ditched the stroller and started sprinting after him. His foot reached the water’s edge and the other followed, I was not going to make it in time. I started screaming for someone to help. The clueless dog owners just stared at him in disbelief. Jonah was up to his waste and still running. A Hasidic Jewish man took one look at the runaway child and lunged after him. Seconds after Jonah went under the water, he lifted him up. Jonah was unfazed, I was crest fallen. The Hasidic man was drenched, his nice dress shoes ruined his cloak soaked his hat floating away. If he hadn’t been there.
All parents have one or two stories like this. Jeremy and I have too many to count. I tell this one to remind people to help when a mother is screaming for help. There must have been a dozen people that could have grabbed Jonah and they just stood there. Actually, the airport incident at JFK had even more bystanders that stood by passing judgment. I started putting a vest on him with a leash attached to it. Talk about judging eyes.
This research has given us a new idea on how to approach treating the disease. A theory that I hope turns to reality. Stay tuned.
https://pubmed.ncbi.nlm.nih.gov/34156977/
