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 useless 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 her hands, causing her to be wrongly diagnosed with another genetic condition that is more common.

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

In CLOVES, the tissues grow uncontrollably and blood vessel abnormalities lead to deformities of the hands, arms, legs or feet. In Ms. Johnson Edwards’ case, this led to her hands and fingers becoming extremely swollen and unusable for many daily tasks

“I ignored the diagnosis for years,” says the PhD student. “I’d been dealing with this other problem all my life. So much of my life and how I understood myself revolved around a diagnosis that was taken from me.”

“In a strange way, it was like I was having an identity crisis and no longer knew who I was because this key part of my life had been removed.”

clove is a congenital condition, meaning it is present at birth, and is caused by a mutation in the PIK3CA gene, which is responsible for tissue formation while an embryo is in the womb.

Only 200 cases have been identified worldwide.

Tissues that grow uncontrollably and blood vessel abnormalities lead to deformities of the hands, arms, legs or feet. In Mrs. Johnson Edwards’ case, this led to her hands and fingers becoming extremely 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 conditions, nerve compression, health complications, and so on,” she said.

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

Although Ms. Johnson Edwards initially ignored her condition, she has since found a community through her advocacy work

“I decided that I would say yes to any opportunity that came my way to be involved in the world of rare diseases, especially the CLOVES community,” said Ms. Johnson Edwards.

For example, Mrs. Johnson Edwards uses dictation software to transcribe papers for school because typing puts too much strain on her hands. At home, she uses various “hands-free” devices, such as a hair dryer stand, to help with basic tasks.

“Most importantly, I have learned to utilize the people around me,” she said.

‘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.’

‘I have people around me who want to help with tasks that I can no longer do, such as washing the dishes. When I allow others to help me accomplish 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 further TikTok, where she has currently amassed almost 50,000 likes. She also connected with the nonprofit CLOVES Syndrome Community as her disease progressed.

“What I didn’t know then and 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, afraid that 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 because of my illness, I wanted to do everything I could to help others not feel the way I felt.”

“I decided that I would say yes to any opportunity that came my way to be involved in the world of rare diseases, especially the CLOVES community.”

“Five years later, I continue to work with the 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.”