Pompe Disease: All You Should Know About This Genetic Disorder
Pompe Disease: All You Should Know About This Genetic Disorder
Mar 3, 2022
onlymyhealth.com
Pompe disease is a rare, progressive illness that shares symptoms with other neuromuscular conditions. Because of this, delays in diagnosis are common. Increasing awareness and education around #Pompe disease is vital to accelerate diagnosis. On #InternationalPompeDay, we are shining a light on the Pompe community and sharing their perspectives through the #PompePearls of wisdom initiative. Learn more as people living with Pompe disease share their experiences about living with this condition. |
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Pompe disease is a rare, progressive illness that shares sy…
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Pompe Disease - Symptoms, Causes, Treatment | NORD
Pompe Disease - Symptoms, Causes, Treatment | NORD
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rarediseases.org
"I started noticing it was more and more difficult for me to get up or to walk one flight of stairs. The first time I went to the doctor, they told me everything seems fine,” explains Sean. But everything wasn’t fine. After the weakness in his muscles steadily progressed, Sean needed a clear, definitive answer. With genetic testing, he learned he had #Pompe disease. https://bit.ly/3ePinCt | Sanofi
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“We are not just keeping her alive. We want to give her a life that any other child is entitled to,” says Patricia Ng, mother of Chloe Mah who suffers from Pompe disease. Chloe was diagnosed with the rare fatal condition at 7 months and was not expected to live past her first year. She is celebrating her 12th birthday this year. Read more: https://tdy.sg/3xipTQB Video: Raj Nadarajan/ TODAY | TODAY
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Living with Pompe disease means lots of appointments and lots of specialists. I’ve seen 15 DIFFERENT types of specialties over the years, and yesterday I added a new one to the list: endocrinology. They’re taking a deeper look at my bone density, which can look a little different when you’re in a wheelchair. I’ll be having (another) DEXA scan soon so we can figure out the best course of action moving forward. One more step in taking care of my health 💪 Also… can we talk about how pretty this lo
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