Dec 17 2024 16 mins
Sometimes seeing a rare genetic disorder come across your desk can be intimidating- How do I begin? What can I do for therapy? How do I evaluate? I’ve been there, and today, I’m going to walk you through this case step by step – so the next time, you’ll feel empowered, not intimidated.
Coffin-Siris Syndrome is a rare genetic disorder that affects multiple areas of the body including; developmental delay, cognitive delay, hypotonia, difficulties with feeding, communication, vision, and hearing. Coffin-Siris syndrome is not progressive but often prevents individuals from driving or living independently.
A g-tube was placed at 18 months due to failure to thrive. However, oral feedings are still encouraged and she is presented with food multiple times throughout the day. She receives occupational therapy, physical therapy, and speech therapy.
Previously, progress was being made; she had 10 consistently used signs and was able to complete a puzzle with minimal assistance, but 2 weeks ago, she had a major seizure that resulted in several setbacks.
She’s up for re-evaluation and so mom and I have started talking about what her goals can be moving forward. Check out this episode to find out the speech therapy goals, strategies for improving communication, and working through any future medical setbacks.
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