Articles tagged with 'Rare' | Checkup Newsroom

Today is Rare Disease Day and we’re sharing the story of one of our patients, 3-year-old Greyson, who was diagnosed with PURA Syndrome when he was 2 years old. Only about 500 people in the world share the same diagnosis.Greyson’s diagnostic odyssey …

When it comes to treating spinal muscular atrophy (SMA), time is of the essence. Every day that passes without treatment can lead to a lesser quality of life and, tragically, even death. But a new and simple screening for newborns has the potential …

It’s one thing to have had a baby in the unprecedented times that defined 2020. It’s another thing altogether to deliver a baby with a serious medical condition in a year already filled with so much uncertainty and hardship, but that was …

Today is SCN2A Awareness Day, a day recognizing a rare cause of epilepsy, intellectual disability, and autism. The SCN2A gene is found on chromosome 2 position 24.3, thus the significance of 2/24.To help raise awareness of this rare genetic cause of …

San Angelo Standard-Times - Sometimes when water touches her skin, the feeling is comparable to burning acid, said San Angeloan Madisyn Metaxas. Madisyn, 19, has suffered outbursts of pain that, at times, left her entertaining the idea that …

If you’re like most people, you’ve probably never heard of congenital hyperinsulinsim. That’s likely because it only affects between 80 and 120 babies each year. But for those who are affected, it can be a life-changing event, …