“I only received my diagnosis X years later when my child got theirs”
- A woman has heart issues – either WPW or CM, but it’s always been considered just heart disease as she does not really have other symptoms
- She becomes a mom, and her child has X, Y, Z symptoms and goes to the pediatrician, who then recommends they see a cardiologist
- Child gets diagnosed with HCM and the pediatric cardiologist orders genetic testing and receives a Danon diagnosis
- Through genetic counseling, mom gets genetic testing and learns about her Danon diagnosis…many years after her heart symptoms appear
“Multiple family members were diagnosed with HCM so we pushed for genetic testing as we knew something was up”
- Multiple family members are diagnosed with HCM
- One had genetic testing done as they had multi-systemic issues and felt it was suspicious
- Following a positive Danon diagnosis, the rest of family members decide to get tested
“My child had an unusual retinal scan”
- My child was having issues with their vision so we went to see a specialist
- During the visit, they ordered a retinal scan and the ophthalmologist ordered a genetic test for ophthalmic diseases
- When the test came back negative, we were sent to get a mitochondrial test done, which also came back negative.
- Eventually, we found our way to getting tested for genetic heart diseases and that’s when we learned bout our Danon diagnosis
“Our ophthalmologist happen to have seen a similar retinal scan”
- We went to see an ophthalmologist at a major academic institution who happened to see a Danon patient a few weeks prior
- They recognized the similarities in both retinal scans and recommended we get genetic testing
- Sure enough, the test revealed that the individual had a LAMP2 mutation
“I had a heart transplant years ago. I wasn’t diagnosed until years later.”
- I received a heart transplant in my early 40s and didn’t think
- They recognized the similarities in both retinal scans and recommended we get genetic testing