Texas woman, 28, with extremely rare disease that means her hands are permanently swollen reveals struggles of daily life

A woman in Texas was born with unusable hands due to an extremely rare genetic condition that affects only 200 people worldwide.

Lindsey Johnson Edwards, 28, was still in her mother’s womb when doctors noticed something wasn’t quite “right” with her hands.

Medical experts noticed growths on his hands, which led to him being incorrectly diagnosed with another genetic condition that is more common.

However, his family later learned that the diagnosis was wrong, and at age 13, doctors at Boston Children’s Hospital diagnosed him with a condition called CLOVES, or congenital lipomatous (fatty) overgrowth, vascular malformations, epidermal nevi, and scoliosis. /skeletal/spinal anomalies. .

“For years I ignored the diagnosis,” the doctoral student said. ‘I had spent my entire life enduring this other problem. “A lot of my life and how I understood myself revolved around a diagnosis that was being taken away 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.”

CLOVES is a congenital disease, that is, present from birth, caused by a mutation of the PIK3CA gene, responsible for the formation of tissue while the embryo is in the uterus.

Only 200 cases have been identified worldwide.

Uncontrolled growing tissues and blood vessel abnormalities cause deformities in the hands, arms, legs, or feet. In the case of Ms. Johnson Edwards, this caused her hands and fingers to become very swollen and unusable for many daily tasks.

“I have no function in my right hand and my function in my left hand fluctuates depending on a variety of factors such as swelling, weather, nerve compression, health complications, etc.,” he said.

“Although I have learned to use my limbs in unique ways to maximize my limited function, I rely on assistive technology, handicap aids, and other people.”

For example, Ms. Johnson Edwards uses dictation software to transcribe schoolwork because writing puts too much strain on her hands. At home, she uses various “hands-free” devices, such as a hair dryer holder, to help her with basic tasks.

“However, the most important thing is that I have learned to use the people around me,” he said.

“I have always been as self-sufficient and independent as possible, but as my illness has progressed, I have come to accept my limits and seen the beauty of dependency.”

‘I have people around me who want to help me with tasks that I can no longer do, like washing the dishes. When I allow others to help me achieve what I can no longer do, I give people a tangible way to show that they care.’

Although Ms. Johnson Edwards initially chose to ignore her diagnosis, sharing it on social media has helped her connect with other patients.

She started sharing her journey Tik Tok, where it has currently racked up almost 50,000 likes. He also connected with the nonprofit CLOVES Syndrome Community as his illness progressed.

“What I didn’t know then and what I know now is that the CLOVES Syndrome Community would soon become my family,” she said.

“I had spent much of my life resisting any kind of involvement in the rare disease community, fearing I would fall back into the “I’m just a patient” mentality that dictated much of my childhood.”

‘But… I changed my mind. Feeling so alone and sad about my illness, I wanted to do everything I could to help others not feel what I felt.’

“I decided I was going to say ‘yes’ to any opportunity that came my way to get involved in the world of rare diseases, specifically the CLOVES community.”

“Five years later, I continue to work with CLOVES Syndrome Community and our partners, but I also share my story on social media as a way to educate others about my disease and advocate for my community.”