1 month ago
A female successful Texas was calved pinch with unusable hands owed to an highly uncommon familial information that affects conscionable 200 group worldwide.
Lindsey Johnson Edwards, 28, was still successful her mother's womb erstwhile doctors noticed thing was not rather 'right' pinch her hands.
Medical experts noticed growths connected her hands, starring her to beryllium incorrectly diagnosed pinch different familial information which is much common.
However, her family later learned that nan test was wrong, and astatine property 13, doctors astatine Boston Children's Hospital diagnosed her pinch a information called CLOVES - aliases Congenital Lipomatous (fatty) Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/skeletal/spinal anomalies.
Lindsey Johnson Edwards, 28, was still successful her mother's womb erstwhile doctors noticed thing was not rather 'right' pinch her hands. Years later, she was diagnosed pinch CLOVES syndrome
In CLOVES, tissues turn uncontrollably and humor alloy abnormalities lead to deformities of hands, arms, legs, aliases feet. In Ms Johnson Edwards' case, this led to her hands and fingers becoming highly swollen and unusable for galore regular tasks
'For years I ignored nan diagnosis,' nan PhD student said. 'I had spent my full life base this different problem. So overmuch of my life and really I understood myself revolved astir a test that was being taken from me.'
'In a unusual way, it’s for illustration I went done an personality crisis, nary longer knowing who I was because this cardinal portion of my life had been removed.'
CLOVES is simply a congenital condition, meaning it is coming astatine birth, caused by a mutation of nan PIK3CA gene, which is responsible for insubstantial statement while an embryo is successful nan womb.
Just 200 cases person been identified worldwide.
Tissues increasing uncontrollably and humor alloy abnormalities lead to deformities of hands, arms, legs, aliases feet. In Ms Johnson Edwards' case, this led to her hands and fingers becoming highly swollen and unusable for galore regular tasks.
'I do not person usability successful my correct hand, and my usability successful my near manus fluctuates depending upon a assortment of factors for illustration swelling, weather, nervus compression, wellness complications, and truthful on,' she said.
'While I person learned to usage my limbs successful unsocial ways successful bid to maximize my constricted function, I do trust connected assistive technology, disablement aids, and different people.'
Though Ms Johnson Edwards initially ignored her condition, she has since recovered a organization done her defense work
'I decided that I was going to opportunity “yes” to immoderate opportunity that came my measurement to beryllium progressive successful nan uncommon illness world, specifically nan CLOVES community,' Ms Johnson Edwards said
For example, Ms Johnson Edwards uses dictation package to transcribe papers for school, arsenic typing puts excessively overmuch accent connected her hands. At home, she uses respective 'hands-free' devices, specified arsenic a rustle dryer stand, to thief pinch basal tasks.
'Most importantly, however, is that I person learned to utilize nan group astir me,' she said.
'I person ever been arsenic self-sufficient and independent arsenic possible, but arsenic my illness has progressed, I person travel to position pinch my limits and seen nan beauty of dependency.'
'I person group astir maine that want to thief pinch tasks I tin nary longer do, for illustration washing nan dishes. When I let others to thief maine execute what I tin nary longer do, I springiness group a tangible measurement to show that they care.'
Though Ms Johnson Edwards initially chose to disregard her diagnosis, sharing it connected societal media has helped her link pinch different patients.
She began to stock her travel connected TikTok, wherever she has presently wracked up almost 50,000 likes. She besides connected pinch nan nonprofit CLOVES Syndrome Community arsenic her illness progressed.
'What I didn’t cognize past that I cognize now is that nan CLOVES Syndrome Community would soon go my family,' she said.
'I had spent truthful overmuch of my life resistant to immoderate benignant of engagement successful nan uncommon illness community, fearful that I would autumn backmost into nan “I’m conscionable a patient” mindset that dictated truthful overmuch of my childhood.'
'But...I had a alteration of heart. Feeling truthful unsocial and sorrowful because of my disease, I wanted to do thing I could to thief others not consciousness nan measurement I was feeling.'
'I decided that I was going to opportunity “yes” to immoderate opportunity that came my measurement to beryllium progressive successful nan uncommon illness world, specifically nan CLOVES community.'
'Five years later, I proceed to activity pinch CLOVES Syndrome Community and our partners, but I besides stock my communicative of societal media arsenic a measurement to amended others astir my illness and advocator for my community.'
