Doctors noticed something was not quite 'right' with Lindsey Johnson Edwards' hand when she was still in her mother's womb, leading her to be incorrectly diagnosed with another genetic condition which is more common. Her family later learned that the diagnosis was wrong.
At age 13, she was diagnosed by doctors at Boston Children's Hospital diagnosed with CLOVES syndrome.
CLOVES, otherwise refer as Congenital Lipomatous (fatty) Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/skeletal/spinal anomalies is a congenital condition, meaning it is present at birth, caused by a mutation of the PIK3CA gene, which is responsible for tissue formation while an embryo is in the womb. Tissues growing uncontrollably and blood vessel abnormalities lead to deformities of hands, arms, legs, or feet.
The 28-year-old PhD student said, "For years I ignored the diagnosis. I had spent my entire life bearing this other problem. So much of my life and how I understood myself revolved around a diagnosis that was being taken from me.
"In a strange way, it’s like I went through an identity crisis, no longer knowing who I was because this key part of my life had been removed.
"I do not have function in my right hand, and my function in my left hand fluctuates depending upon a variety of factors like swelling, weather, nerve compression, health complications, and so on.
"While I have learned to use my limbs in unique ways in order to maximize my limited function, I do rely on assistive technology, disability aids, and other people.
"I decided that I was going to say 'yes' to any opportunity that came my way to be involved in the rare disease world, specifically the CLOVES community,' she added.
Ms Johnson Edwards uses dictation software to transcribe papers for school, as typing puts too much stress on her hands. At home, she uses several 'hands-free' devices, such as a blow dryer stand, to help with basic tasks.
"Most importantly, however, is that I have learned to utilize the people around me. I have always been as self-sufficient and independent as possible, but as my disease has progressed, I have come to terms with my limits and seen the beauty of dependency."
Just 200 cases of the condition have been identified worldwide.
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