Author: Lance Garrison

Doctors can’t cure Pompe disease. But treatment can help babies, children, and adults with the condition live longer, and often with fewer complications.In 2006, the FDA approved the first treatment for Pompe disease. It consists of regular IV infusions of a man-made enzyme called alglucosidase alfa. The drug does the job of an enzyme in your body that doesn’t work correctly when you have Pompe disease. This process, known as enzyme replacement therapy (ERT), is still the only treatment approved for the condition.Before ERT was available, newborns diagnosed with the classic infantile form of Pompe disease rarely lived longer than…

When two parents each pass on a mutated copy of a particular gene to their baby, that child can get Pompe disease. Because this rare condition doesn’t affect you if you carry just one faulty gene, parents usually don’t realize they could pass it to their children.“Most of our families come to us without any knowledge of the disorder,” says Damara Ortiz, MD, director of the Lysosomal Storage Disorders Program at UPMC Children’s Hospital of Pittsburgh.The gene linked to Pompe disease is known as the GAA gene. In healthy people, it produces the GAA enzyme. This enzyme breaks down a…

By Anthony Wu, as told to Lisa FieldsWhen our 3-year-old son, Eugene, was 2 weeks old, he was diagnosed with Pompe disease. My wife, Jung, and I found out this important information because we live in New York City, and Pompe disease is included among New York state’s newborn screening tests. We had never heard of the condition before.At the doctor’s office, we were told not to Google Pompe disease because everything we could read about it online was very bad. They told us that there have been helpful medical developments, so the prognosis is better than what articles would…

Getting a diagnosis of Pompe disease can be tricky. That’s partly because the disorder is so rare. It affects only about 1 in every 40,000 people in the United States.“It’s really not on most pediatricians’ radar,” says Gerard Vockley, MD, PhD, chief of genetic and genomic medicine at UPMC Children’s Hospital of Pittsburgh. DID YOU KNOW? It can take as long as 13 years after symptoms start to get the right diagnosis. Another reason is that some of the symptoms of Pompe disease, like muscle weakness and breathing problems, are also signs of other, more common conditions. The condition is…

Doctors and scientists have made big breakthroughs in treating multiple myeloma. They’ve helped people with the disease to keep it in check and live longer, healthier lives. Despite this, the condition still affects some groups unequally. These populations face differences in care.Multiple myeloma is a type of blood cancer. It happens when white blood cells (plasma cells) build up in your bone marrow until they crowd out healthy cells. Because healthy plasma cells normally make antibodies that target and attack germs, you’re then more exposed to infection.Researchers haven’t closely studied multiple myeloma in Hispanic people. In the first and largest…

Multiple myeloma can be a deadly disease. But if you’re Black or African American, you’re particularly vulnerable. Research shows you’re more than twice as likely to be diagnosed with this blood cancer and to die from it.There are several reasons for this, but one concern is that Black people aren’t adequately represented in clinical trials. These are research studies that use humans to find out how safe and effective an experimental treatment is.While Black people make up a fifth of everyone diagnosed with multiple myeloma, between 2003 and 2017 only 4.5 percent of people in drug trials for multiple myeloma were Black. But it’s…

A look at possible reasons why multiple myeloma affects Black people more than white people, including genes, health care disparities, and the role of MGUS.

Amid all the talk about the potential influence of Christian nationalism in a second Trump administration, and in the country as a whole, the phrase’s popularity has far outrun any coherent definition.My colleague David French made an effort to remedy that issue in his column this week. I’m going to make my own attempt here, by suggesting four broad ways one could define a term like Christian nationalism:Definition One: The belief that America should unite religion and politics in the same manner as the tribes of Israel in Leviticus and Deuteronomy (the more extreme case) or Puritan New England (the…

Another way Fed economists try to filter out the noise in the data is to focus on “core” inflation measures, which are those that exclude food and energy. Whenever I write about core inflation, I get mail claiming that it’s a trick to minimize inflation. I love a good conspiracy theory, but that’s not what’s going on. In fact, when food and energy prices are falling, core inflation is higher than the headline number that includes everything. While food and energy should be included when looking at long-term price trends, the reason to leave them out when looking at short-term…

March 1, 2024 – High blood pressure. High triglycerides. An expanding waistline. High fasting blood sugar. Abnormal cholesterol. If you have three or more of these ailments, you may have metabolic syndrome – a common, yet often overlooked condition. Metabolic syndrome, also known as insulin resistance syndrome, raises your risk of type 2 diabetes, heart disease, and stroke.But now researchers are finding that stress plays a critical role, and managing that stress could help reduce the risk of metabolic syndrome, as well as treat diseases linked to it.While managing psychological distress can be complicated at times, there are easy, affordable ways to lower stress levels,…