Month: June 2022

June 30, 2022June 30, 2022

24 New CLN6 Gene Mutations Found in Patients in Middle East, Africa

Batten Disease News Columns

Two dozen new mutations in the CLN6 gene were identified in nearly 100 people, mostly from the Middle East and North Africa, with CLN6 Batten disease, a study shows. These findings ... Read more

June 30, 2022June 30, 2022

Let’s Maintain Hope, Even When History Repeats Itself

Cystic Fibrosis News Today Columns

I recently watched the 2021 remake of “West Side Story.” It was my first viewing of the musical, a surprising twist if you’ve read my columns. In short, I’m obsessed ... Read more

June 30, 2022June 30, 2022

I Am Grateful My Son Has a Safe Space to Land

Hemophilia News Today Columns

I watch my son put pencil to paper and cannot help noticing the change in his face. The tension from just a few minutes ago gives way to peace. The ... Read more

June 30, 2022June 30, 2022

A Good Game Plan Helps Us Avoid Shoe-shopping Disasters

Angelman Syndrome News Columns

Shoe shopping with children can be frustrating. Keeping a tyke engaged while you try on multiple pairs of shoes takes time and patience. Shopping for shoes with a child with ... Read more

June 30, 2022June 30, 2022

Miraculous Innovations Paving the Way for Those With Rare Diseases

COVID-19 Columns, SMA News Today Columns

One day about 15 years ago, I was watching a funny show. It was lighthearted and entertaining, yet one comment made me think seriously. It still does. A person said, ... Read more

June 30, 2022June 30, 2022

Fatigue Was One of the First ‘Tells’ of My Primary Progressive MS

Multiple Sclerosis News Today Columns

In poker, a tell refers to a change in an opponent’s behavior or demeanor that may offer clues about the cards they’re holding. This could be a facial movement, an ... Read more

June 30, 2022June 30, 2022

Easing the Stress of Clinic Days for Pulmonary Hypertension Testing

Pulmonary Hypertension News Columns

The alarm sounds at an absurd hour on those days of the year when I am always up earliest. No food or coffee. And only enough water to take my ... Read more

June 30, 2022June 30, 2022

Do These Symptoms Mean My Disease Is Worsening?

COVID-19 Columns, Pulmonary Fibrosis News Columns

Living with a chronic illness is not for the faint of heart. In addition to the physical and emotional aspects of having a life-threatening lung disease like idiopathic pulmonary fibrosis ... Read more

June 30, 2022June 30, 2022

Our Strength Shows During Our Diagnosis, Recovery, and Healing

Cushing’s Disease News Columns

Dealing with a medical condition of any kind is difficult. Often the focus is on the things we’re no longer able to do. I’d like to take a different perspective ... Read more

June 30, 2022June 30, 2022

We Are Always Preparing to Manage Life on Our Own

ALS News Today Columns

When my 12-year-old son, Isaac, went to mow the grass last week, he noticed that one of the tires had come off the rim. My husband, Todd, purchased the zero-turn ... Read more

June 30, 2022June 30, 2022

UK Study: Fatigue Often Influences Quality of Life in MS

Multiple Sclerosis News Today

Fatigue is a common symptom among people living with multiple sclerosis (MS), and has a significant negative impact on physical and psychological function, as well as quality of life, a ... Read more

June 30, 2022June 30, 2022

Long-term Zeposia May Help Cognitive Function in Patients, Data Show

Multiple Sclerosis News Today

Long-term treatment with Zeposia (ozanimod) stabilizes or even improves cognitive function in adults with relapsing forms of multiple sclerosis (MS), particularly among those with greater brain volumes. That’s according to ... Read more

June 30, 2022June 30, 2022

Kaftrio May Ease CF Symptoms of Acid Reflux, Sinonasal Infection

Cystic Fibrosis News Today

Kaftrio, a triple combination of elexacaftor, tezacaftor, and ivacaftor sold as Trikafta in the U.S., may ease acid reflux and symptoms of nasal and sinus cavity infection in cystic fibrosis ... Read more

June 29, 2022June 29, 2022

Life Is Like a Box of Chocolates … and a Yo-yo

SMA News Today Columns

I’ve only seen snippets from the 1994 movie “Forrest Gump.” I know a couple of its famous lines, though: “Life is like a box of chocolates. You never know what ... Read more

June 29, 2022June 30, 2022

New Treatments Needed to Improve Quality of Life in AADC

AADC News

Aromatic l-amino acid decarboxylase (AADC) deficiency has a significant negative effect on patients, their families, and the healthcare system, according to a new review paper that called it “a debilitating ... Read more