July 30, 2021
It’s been two months since our last update. Imogen has been diagnosed with two pieces of her puzzle. Lipodystrophy and a Scleroderma-like disorder. Her genetics testing came back with no answers and more variants of unknown significance. They were primarily looking for disorders in the progeroid family, which are a type of premature aging syndromes. We are very thankful she is not diagnosed with this and it allowed us to begin treatments. We have also moved off the ICU floor and breathing support is back down to high-flow.
Lipodystrophy prevents her body from producing and maintaining healthy fat tissue. She is on a one-a-day injection for this.
Her Scleroderma-like diagnosis affects her skin, joints, GI system and muscles. Her treatment for this is a combination of a few different medicines including steroids that suppress her immune system.
We might not see much for improvement in her conditions for up to six months since she started her treatments in mid-June.