Month: July 2021

July 30, 2021July 30, 2021

I’m Proud to Support My Friends in the Paralympic Games

SMA News Today Columns

After an extra year of waiting, the Tokyo Olympics are finally underway! I’m generally not much of a sports fan, but I always look forward to the Olympics. Even for ... Read more

July 30, 2021July 30, 2021

The Painful Tooth: My Weekend of Agony

Multiple Sclerosis News Today Columns

I’ve written about trigeminal neuralgia (TN), which entails severe facial pain, many times. Let me count the ways. Please excuse me while I go off and search through my columns. ... Read more

July 30, 2021July 30, 2021

Psychosis From Cushing’s Treated With Surgery Plus Metopirone

Cushing's Disease News

A young woman with psychosis stemming from Cushing’s disease made a complete recovery through a combination of brain surgery and Metopirone (metyrapone) treatment, according to a case report. The researchers ... Read more

July 30, 2021July 31, 2021

Starting ERT Before Kidney Disease Onset Leads to Better Outcomes

Fabry Disease News

In people with Fabry disease, starting enzyme replacement therapy (ERT) before the onset of chronic kidney disease — known as CKD — is linked with better outcomes, according to a ... Read more

July 30, 2021July 30, 2021

Pivotal EB-101 Cell Therapy Trial Adds 2nd Site on Other US Coast

Epidermolysis Bullosa News

The pivotal VIITAL study of EB-101, Abeona Therapeutics‘ experimental therapy for recessive dystrophic epidermolysis bullosa (RDEB), now has a second clinical site on the other U.S. coast — at the UMass ... Read more

July 30, 2021July 30, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Fragile X News Today

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more

July 30, 2021July 30, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Cushing's Disease News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more

July 30, 2021July 30, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Cold Agglutinin News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more

July 30, 2021July 30, 2021

FRAXA Funds Study of High-fat, Low-carb Diets on Fragile X Seizures

Fragile X News Today

A $90,000 grant from the FRAXA Research Foundation will fund a preclinical study that aims to assess the potential benefits of a diet that is high in fat and low ... Read more

July 30, 2021July 30, 2021

Music Therapy Seen to Make Mice in Rett Model More Sociable

Rett Syndrome News

A music-based intervention helped to normalize certain social behaviors in a mouse model of Rett syndrome, researchers reported. Findings also suggested that repeated, regular exposure to music altered the activity of ... Read more

July 30, 2021July 30, 2021

CAD Patients Show ‘High Disease Burden’ Based on Healthcare Use

Cold Agglutinin News

People with cold agglutinin disease (CAD) use more healthcare resources than people without the disorder, both before and after a diagnosis, according to a recent Danish study. Study findings indicated ... Read more

July 30, 2021July 30, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Sarcoidosis News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more

July 30, 2021July 30, 2021

The People We’ve Met Due to My Son’s Disability Are a Blessing

Muscular Dystrophy News Columns

My 2-year-old son, Alfie, lives with LAMA2-related muscular dystrophy. Obviously, it is hard, stressful, and heartbreaking to raise a child with a disability. I wouldn’t wish this condition upon anyone. ... Read more

July 30, 2021July 30, 2021

I’m Finally Falling Asleep Without Battling Anxiety

Cystic Fibrosis News Today Columns

This column’s title may seem strange to some, but it’s not for those of us who’ve faced sleep disorders due to anxiety. For years I wondered if I would wake ... Read more

July 30, 2021July 30, 2021

Helping Others During Times of Grief

Sanfilippo News Columns

Grief has been a prevalent part of my life for the past year or so. My mom unexpectedly passed away early last year, and because of the pandemic, her burial ... Read more