Lia Porcano was born in March 2018—and her parents Rosalyn and Justin could not have been more excited. But when Lia’s newborn screening test came back abnormal, the parents’ concern…
Eight years: that’s how long it has been since Moxie Garrison was diagnosed with Marfan syndrome. Now nine years old, the spunky and resilient third grader approaches every challenge head-on.…
Amber Freed has long been a tireless advocate for the rare disease community. After two years of IVF, she became pregnant with her two children: Maxwell and Riley. About four…
In 2020, Lily Tyson, aged 12 at the time, was diagnosed with a rare chromosomal disorder called Turner syndrome. More recently, Lily began experiencing various eye issues: redness, pain, blurred…
When Jen and Will Fox remember their son Dalton, they think about his infectious smile, his passion for adventures, and his absolute adoration of baseball. Dalton, who was diagnosed with…
When Eric and Samantha Rovinetti learned that they were pregnant with their first child, they were overjoyed. They could not wait to welcome baby Adrianna into the world. But shortly…
Charlie and Megan Hieb would do anything to help their daughters, Nora and Lucy. They would truly go to the ends of the earth to ensure that their daughters…
If you’ve ever wanted to run around Philadelphia in your underwear for a good cause, I have an event to tell you about! As first reported by the Philly…
Right now, there are only an estimated 10 people in Ireland who have been diagnosed with a form of mucopolysaccharidosis type I (MPS I) called Hurler syndrome. This is the…
Seven years ago, David and Amber Negele married. The pair couldn’t wait to begin their blissful wedded life together. Just a few years after their marriage, David and Amber decided…
James Clarke, now 42 years old, has always loved sports. He watched as Doddie Weir, a Scottish rugby union player, tirelessly worked to raise motor neuron disease (MND) awareness. Doddie…
In March 2022, T. Kavinraj began experiencing a number of worrying health symptoms. He had a splitting headache and could not stop vomiting. In fact, his condition was so bad…
Gonzolo and Jennifer Garcia were so excited when they learned that they were pregnant with their son, Asher. But during the 20-week ultrasound, they found out that Asher would be…
Before you read on, make sure you have read Part 1 of our interview. In Part 1, Bridget discusses what STXBP1 disorders are and the diagnostic journey her family went…
In June 2022, 16-year-old Patrick McLaughlin was officially diagnosed with aplastic anemia, a rare form of bone marrow failure. Inspired by Patrick's journey and his resilience throughout this process, the…
Within the first few months after Reuben Jayce-Mills was born, he seemed to be progressing fairly normally. But when Reuben turned nine months old, his parents noticed some concerning…
Shortly after he was born, Asa Burnside was diagnosed with Niemann-Pick disease type A, a rare genetic metabolic disorder. Since then, Asa has brought so much joy to his family’s…
Don't forget to take a look at Part 1 of our interview, where Jessica discussed her trigeminal neuralgia journey, what this condition is, and why she decided to start the…
Before you read Part 2 of Lindsey's interview, make sure to go back and take a look at Part 1! In Part 1, we discussed Finn, the diagnostic journey for…
At the beginning of our interview, Lindsey Curley explains to me that there is a difference between listening and understanding. Listening is important, of course; she wants people to listen…
When Lauren Atkins and William Bromley welcomed their son Charlie into their lives, they were thrilled. Jessie, their daughter, may have been even more thrilled, already having a soft spot…
As we know, many treatments for rare diseases are quite expensive - and this price doesn't even factor in travel, lodging, appointments, and more. To help with this, the government…
When Hailey Huddleston was just two years old, she had her first seizure. At first, her parents – Tim and Lisa – weren’t sure if Hailey was having a night…
At 13 years old, Emma Woods was diagnosed with Turner syndrome, a rare chromosomal condition. Unfortunately, Turner syndrome can cause a number of health or developmental problems, such as heart…
In 2018, Ethan Lambert was born. His parents, Kassondra and William, were thrilled with the new addition to their family. For the first year, Ethan seemed to be developing fairly…
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