“The first thing I asked was his life expectancy. ‘5-10 years.’ The tears did not stop pouring. How could it be true? Why should his life be cut short? Once we got out of the initial haze of disbelief, we immediately knew we had to take action.”
‘There are only 150 known cases.’ What?! There was no cure, no treatment. ‘Leo will never walk, talk, or live a normal life.’: Mom raises awareness for son’s rare Infantile Neuroaxonal Dystrophy
‘He said they were ‘non-symptomatic.’ I was sent off feeling relieved it wasn’t worse—if only I knew.’: Woman shares journey with Tarlov Cyst Disease to raise awareness
“When I woke up, I had lost sensation completely in my left leg, and I lost control of my bladder. The pain was excruciating.”
‘When they laid him on my chest, I was completely silent.’: Rainbow baby with rare genetic condition helps mom find new appreciation for life
“Finally, we had an answer. I’m not sure if there’s anyone else currently alive with it. Every milestone was like winning the lottery.”
‘My dad put on the car flashers and whizzed around curves to find meds. I’ll NEVER forget the pain.’: Mom diagnosed with Achalasia urges ‘celebrate the little victories’
“Would I need my esophagus REMOVED? My mind was filled with questions. The nurse couldn’t even PRONOUNCE the disease.”
‘How will I know if the surgery fails?’ The doctor said, ‘Oh, you’ll know.’: Woman battles Intracranial Hypertension, ‘I’ve never been happier’
“’She’s just a kid, why does she have migraines?’ Family and friends didn’t empathize. I thought getting a diagnosis would clear up the ‘hypochondriac talk,’ but it made it worse.”
‘My femur snapped in the kitchen. It was the best day of my life.’: Woman raises awareness for ultra-rare bone disease
“I did catastrophic damage to my bones trying to live a normal life. It’s all I wanted, just to be normal. Soon, I lost the ability to walk.”
‘We sat in a dark room listening to our baby cry as they pried his eyelids open with clamps.’: Newborn diagnosed with ultra-rare Norrie Disease
“This wasn’t right. I was supposed to be blissfully loading my baby into the car, excited to get him home. Instead, my 5-pound baby, was to have eye surgery at 1 week old.”
‘It started very slowly. First, it was the shakiness of her hands. ‘GOD PLEASE, HELP!’ Next thing I knew, my precious 3-year-old was convulsing uncontrollably.’: Mom shares ‘unexpected blessing’ of daughter with Rett Syndrome
“‘How is this even the same girl?’ I wish I could remember the last time she said ‘mama.’ If I knew I may never hear it again, I would’ve recorded it to play whenever I needed the reminder.”
‘He’s so cold.’ She ripped off the blankets, just watched him breathe. I could see she was scared to tell me.’: Mom shares son’s Angelman Syndrome journey, ‘He constantly defies the odds’
“He was so yellow he looked like an old-school baby doll. He was labeled ‘Failure to Thrive.’ Those three words were a punch in the gut. I felt like I failed my newborn.”
‘Where do you get your energy?’ Apparently, I’m good at pretending. My condition was URGENT.’: Woman diagnosed with Addison’s disease, Type 1 Diabetes, ‘My diseases will NEVER stop me’
“I felt embarrassed, since there was ‘nothing wrong’ with me. I wouldn’t have survived much longer.”
