* . *
  • About
  • Advertise
  • Privacy & Policy
  • Contact
Wednesday, June 25, 2025
Earth-News
  • Home
  • Business
  • Entertainment
    Netflix unveils Dallas immersive venue for fans of hit shows like ‘Squid Game,’ ‘Stranger Things’ – Houston Chronicle

    Step Inside Netflix’s New Dallas Immersive Experience Featuring Hits Like ‘Squid Game’ and ‘Stranger Things

    ‘Puttin’ on the Ritz’: Civic Players bring ‘Young Frankenstein’ to life – Yahoo

    Civic Players Deliver a Hilarious and Unforgettable Performance of ‘Young Frankenstein

    ‘Wheel of Fortune’: Amputee Wins $60,000 After Breaking Incredible ‘Curse’ – Hastings Tribune

    Wheel of Fortune’ Amputee Breaks Incredible ‘Curse’ to Win $60,000!

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    Safety concerns in Deep Ellum create apprehension as the entertainment district gains visitors – CBS News

    Safety Concerns Surge Amid Deep Ellum’s Booming Popularity and Growing Crowds

    Elisabeth Moss’ ‘Handmaid’s Tale’ Emmy chances, by the numbers – Yahoo

    Elisabeth Moss’ ‘Handmaid’s Tale’ Emmy chances, by the numbers – Yahoo

  • General
  • Health
  • News

    Cracking the Code: Why China’s Economic Challenges Aren’t Shaking Markets, Unlike America’s” – Bloomberg

    Trump’s Narrow Window to Spread the Truth About Harris

    Trump’s Narrow Window to Spread the Truth About Harris

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Trending Tags

    • Trump Inauguration
    • United Stated
    • White House
    • Market Stories
    • Election Results
  • Science
  • Sports
  • Technology
    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    China’s Military Introduces Mosquito-Sized Drones: A Game-Changing Surveillance Technology – Indian Defence Review

    China Unveils Mosquito-Sized Drones: Revolutionizing Surveillance Technology

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Promising Technology Stocks To Follow Today – June 22nd – MarketBeat

    Top Technology Stocks to Watch Today – June 22nd

    Technology Convergence Report 2025 – The World Economic Forum

    Technology Convergence Report 2025 – The World Economic Forum

    How AI can help make cities work better for residents – MIT Technology Review

    How AI can help make cities work better for residents – MIT Technology Review

    Trending Tags

    • Nintendo Switch
    • CES 2017
    • Playstation 4 Pro
    • Mark Zuckerberg
No Result
View All Result
  • Home
  • Business
  • Entertainment
    Netflix unveils Dallas immersive venue for fans of hit shows like ‘Squid Game,’ ‘Stranger Things’ – Houston Chronicle

    Step Inside Netflix’s New Dallas Immersive Experience Featuring Hits Like ‘Squid Game’ and ‘Stranger Things

    ‘Puttin’ on the Ritz’: Civic Players bring ‘Young Frankenstein’ to life – Yahoo

    Civic Players Deliver a Hilarious and Unforgettable Performance of ‘Young Frankenstein

    ‘Wheel of Fortune’: Amputee Wins $60,000 After Breaking Incredible ‘Curse’ – Hastings Tribune

    Wheel of Fortune’ Amputee Breaks Incredible ‘Curse’ to Win $60,000!

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    Safety concerns in Deep Ellum create apprehension as the entertainment district gains visitors – CBS News

    Safety Concerns Surge Amid Deep Ellum’s Booming Popularity and Growing Crowds

    Elisabeth Moss’ ‘Handmaid’s Tale’ Emmy chances, by the numbers – Yahoo

    Elisabeth Moss’ ‘Handmaid’s Tale’ Emmy chances, by the numbers – Yahoo

  • General
  • Health
  • News

    Cracking the Code: Why China’s Economic Challenges Aren’t Shaking Markets, Unlike America’s” – Bloomberg

    Trump’s Narrow Window to Spread the Truth About Harris

    Trump’s Narrow Window to Spread the Truth About Harris

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Trending Tags

    • Trump Inauguration
    • United Stated
    • White House
    • Market Stories
    • Election Results
  • Science
  • Sports
  • Technology
    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    China’s Military Introduces Mosquito-Sized Drones: A Game-Changing Surveillance Technology – Indian Defence Review

    China Unveils Mosquito-Sized Drones: Revolutionizing Surveillance Technology

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Promising Technology Stocks To Follow Today – June 22nd – MarketBeat

    Top Technology Stocks to Watch Today – June 22nd

    Technology Convergence Report 2025 – The World Economic Forum

    Technology Convergence Report 2025 – The World Economic Forum

    How AI can help make cities work better for residents – MIT Technology Review

    How AI can help make cities work better for residents – MIT Technology Review

    Trending Tags

    • Nintendo Switch
    • CES 2017
    • Playstation 4 Pro
    • Mark Zuckerberg
No Result
View All Result
Earth-News
No Result
View All Result
Home Health

Our Lives With Pompe Disease

March 2, 2024
in Health
Our Lives With Pompe Disease
Share on FacebookShare on Twitter

By Anthony Wu, as told to Lisa Fields

When 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 suggest, especially when someone is identified through newborn screening. It was very tough, because we did read everything we could on Google.

Newborn screening is a lifesaver. If you don’t have it, you’ll never know there’s a problem until a pain point presents itself. Once it does, you’ll have no idea that it’s Pompe, a rare disease that very few doctors know about.

We’ve met people who have older kids with Pompe. Some had to see 20 or 30 doctors before finding the diagnosis. With newborn screening, if you already you know you’re targeting Pompe, you can find help much more easily.

Our son has infantile Pompe disease, so he had some issues early on. He was a floppy baby before he started treatment. He was behind on all the milestones. He had a weaker heart, but not an enlarged heart. They were always running tests to make sure that he wasn’t getting worse.

After a few months, he started enzyme replacement therapy. Eugene had port surgery so he could get the medication without being stabbed with a needle all the time; he needs it every other week. It gave him a lot more energy. He was still behind with his milestones, but it helped him progress from being incredibly delayed to just being delayed.

Some people with Pompe develop antibody resistance, which makes the enzyme therapy less effective. This happened to Eugene a year and a half ago. He needed immunotherapy for 6 months. Now, the enzyme therapy is effective again.

Going to doctor appointments, caring for Eugene, and also working is very stressful. There’s a lot of fatigue, because certain things need to be done. We also have to make sure that we’re performing at our jobs to support him. It’s mentally tough and logistically taxing. But you have to deal with it to make sure that he’s in the best position to be healthy.

It’s hard to balance work with Eugene’s full-day infusions every 2 weeks. In some families, one parent quits their job or works part-time. My wife takes Eugene to the hospital most of the time. She’s amazing at figuring out how to balance that responsibility with work.

Eugene’s diet is very strict: Higher protein, very high vegetable, almost no processed sugar, low-carb. We’re insanely strict about this, but it’s easy because he doesn’t go to school yet. It might be a challenge when kids offer him sweets. We’ll have to teach him to say no, which could be very hard.

Every few months, Eugene sees the doctor for health checks. They run standard tests, including one to see if there’s enlargement of the heart. There are urine tests, muscle tests, and a lot of physical therapy tests to see where his delays are.

More tests could be done. But after a while, you have to wonder: Should we throw so many tests at him, or should we wait and see? Pompe can hit any muscle: arms, legs, respiratory, your hearing, and your heart. It’s very hard monitoring every muscle. We were told that it’s more important to watch the milestones.

We just want Eugene to have as normal a life as he can: friends, a social life, and learning. We haven’t figured out school yet, because he’s so young. He might miss school a fair amount. We don’t know.

Part of the Pompe process is that you just never know. We’re always monitoring, and the drug slows the process of muscle degradation. But you never know when or where it’s happening until a muscle starts weakening.

The tough part for the parent of a young child is that they don’t speak well. Eugene is 3, so he’s not able to describe things. He’ll say something like, “My back is ouch-y.” We don’t know what to do with that, but it’s a significant improvement from when he was 2, when he said one or two words.

Our hope is that if and when something more severe does happen, he’ll be older and actually be able to describe, “I have a pain. It is this severe, in this location in my body.”

It’s hard when you tell someone, “We have Pompe,” and they don’t have an emotional response, because no one knows what it is.

If you replace “Pompe” with a more common disease, people have appropriate reactions, because they know how severe it is. There aren’t many people to talk to about this.

When Eugene’s not going to the hospital, it’s just everyday normal life, learning and helping him communicate faster. We don’t know how much he’s aware that he’s sick. He won’t be able to understand for a while. Whenever possible, we make sure that he’s happy, because that’s more important. We want to protect him from feeling down.

We try to take him out as much as possible, to have him see as many things as possible. Anything that involves a lot of physical activity, we want to do that now because his condition is progressive. Going to parks, going to museums, things that involve a lot of walking — he’ll get tired, but he can do them.

Every month that he’s healthy is something that we cherish. You never know when we’ll have to deal with more things. We appreciate the family time we get with him in his current state.

>>> Read full article>>>
Copyright for syndicated content belongs to the linked Source : WebMD – https://www.webmd.com/children/features/pompe-disease-child?src=RSS_PUBLIC

Tags: healthlivesPompe
Previous Post

Large-scale study explores link between smoking and DNA changes across six racial and ethnic groups

Next Post

Diagnosing Pompe Disease

Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

June 25, 2025
Celtics reportedly trade Kristaps Porzingis to Hawks – FOX Sports

Celtics Make Bold Move, Trading Kristaps Porzingis to Hawks

June 25, 2025
April 7 – Ecology, Safeway, and Washington State University Partner to Feed Cougs Well – Washington State Department of Ecology (.gov)

April 7 – Ecology, Safeway, and Washington State University Partner to Feed Cougs Well – Washington State Department of Ecology (.gov)

June 24, 2025
Iranian missile strikes Israel’s ‘crown jewel of science’ – AP News

Iranian Missile Strikes Rock Israel’s ‘Crown Jewel of Science’ in Dramatic Assault

June 24, 2025
Drone footage reveals orcas using tools in a stunning first – CNN

Incredible Drone Footage Reveals Orcas Using Tools in the Wild for the First Time

June 24, 2025
Lifestyle Brand Life Time Takes 52K SF at PBC’s 10 Bryant Park – Commercial Observer

Lifestyle Brand Life Time Expands with New 52K SF Space at 10 Bryant Park

June 24, 2025
How to Watch Benfica vs Bayern München: Live Stream FIFA Club World Cup, TV Channel – Newsweek

How to Watch Benfica vs Bayern München Live: FIFA Club World Cup Streaming and TV Guide

June 24, 2025
Trump Policies Slam Brakes on NYC Economy – THE CITY – NYC News

How Trump’s Policies Put the Brakes on NYC’s Economic Growth

June 24, 2025
Main Line Health combines culinary creativity with healthy eating – 6abc Philadelphia

Main Line Health combines culinary creativity with healthy eating – 6abc Philadelphia

June 24, 2025
Sen. Murkowski on new memoir ‘Far From Home’ and adapting to Trump era politics – PBS

Sen. Murkowski on new memoir ‘Far From Home’ and adapting to Trump era politics – PBS

June 24, 2025

Categories

Archives

June 2025
MTWTFSS
 1
2345678
9101112131415
16171819202122
23242526272829
30 
« May    
Earth-News.info

The Earth News is an independent English-language daily published Website from all around the World News

Browse by Category

  • Business (20,132)
  • Ecology (698)
  • Economy (715)
  • Entertainment (21,611)
  • General (15,546)
  • Health (9,754)
  • Lifestyle (720)
  • News (22,149)
  • People (717)
  • Politics (722)
  • Science (15,933)
  • Sports (21,212)
  • Technology (15,701)
  • World (695)

Recent News

Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

June 25, 2025
Celtics reportedly trade Kristaps Porzingis to Hawks – FOX Sports

Celtics Make Bold Move, Trading Kristaps Porzingis to Hawks

June 25, 2025
  • About
  • Advertise
  • Privacy & Policy
  • Contact

© 2023 earth-news.info

No Result
View All Result

© 2023 earth-news.info

No Result
View All Result

© 2023 earth-news.info

Go to mobile version