Abigail has a new diagnosis after a 3 hour genetics appointment late last month. We were referred to genetics at Hopkins by her orthopedic and the NICU follow-up team.
My family has a history of a connective tissue disease called Ehlers-Danlos syndrome (EDS). I have it, my mom has it, my brother... you get the idea.
EDS affects connective tissue, skin, joints, and blood vessel walls. People with EDS also have a defect with the collagen they produce. There are 6 types and my family has the Classical type.
As many of you know Abigail still receives physical and occupation therapy several times throughout the month. She struggles with weak muscle tone and hypermobility. She requires the use of orthotics in her shoes to give her the extra support she needs to walk and run. Since I have a long family history of EDS her orthopedic along with the NICU follow-up team wanted to investigate if her weak muscle tone was just a "preemie thing" or something more. We were referred to genetics and after several months of waiting, we finally got an appointment.
To determine if someone has EDS the doctor has to do a detailed physical examination. Doctors will look for the following characteristics:
-soft skin
-easy bruising
-smooth skin
-joint hypermobility
-skin hyperextensibility
-joint instability
With this new diagnosis of EDS her doctors can come up with the right treatment plan for her. Abby does have GI issues which is common in people with EDS. Her GI doctor has already changed her medical plan for Abby.
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