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...The test uses a small sample of blood taken from a newborn's heel. NBS programs test over 4 million babies per year....

...On the surface, this can be a valid question for a perplexing situation....

...The neurologist had me do a muscle biopsy and a blood test for Pompe. He then referred me to see

...There are many challenges to living with a rare disease. The challenges may be physical, mental, and emotional....

...Depending on your insurance, you may need a referral from your PCP to see a specialist....

...Clinical trials follow a plan, which you may hear called a protocol....

...A new diagnosis or unexpected symptoms can be a scary experience....

...If you have a family history of a genetic condition like Pompe disease, you may want to get tested to see if...

...Only a fraction of employees report a disability to an employer....

...However, being prepared for a potential emergency can make a nightmare of a situation slightly more manageable to navigate....

...And I always keep in mind that people are more likely to leave a review for a negative experience than a positive...

...If you have a family history of a genetic condition like XLH, you may want to get tested to see if you...

...Abnormal results on the following tests can be a sign....

...when beginning Trikafta, a drug I began on May 11th after receiving a late-in-life diagnosis of cystic fibrosis on May 1st....

...People with IgAN have a buildup of IgA in their glomeruli. IgA is a protein that plays a role in the...

...I am a complicated rare disease patient....

...An example of this would be taking a drug once a week when it was meant to be taken every

...What you eat can play a big role in your lung health....

...Adult-onset Still’s disease (AOSD) is a rare type of autoinflammatory arthritis....

...If We can't confirm a winner or fulfill a prize, We'll stop and end the Promotion....