Rare Disease Stories

"Her sample was re-tested years later. Thanks to advances in genetic testing capabilities, we confirmed a diagnosis we couldn’t have found previously. "

lily | CDKL5 Deficiency Disorder

"Believe the mom gut, believe in what you do and never stop fighting for your child."

Beckett | SYNGAP1

"Knowing about the different types of genetic tests could have saved us years of searching."

Madden | Angelman Syndrome

"Before my daughter's diagnosis, she saw multiple doctors who assured me she was okay. One doctor even said he thought I was the problem."

Isabella | Rett Syndrome

"As scary as this disease can be, we at least had some awareness about what to expect because he was diagnosed early."

Maui | Tuberous Sclerosis Complex (TSC)

"Confirming our son’s diagnosis gave us peace. I could stop blaming myself and my diabetes for his problems."

Lennon | Mowat-Wilson Syndrome

"She was constantly screaming in pain. We didn’t know what the pain was about, but we know now"

Julia | Pitt-Hopkins Syndrome

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Disclaimer

Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.

Stories

Your story is still unfolding. Learn from others on the journey.

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Stories

Your story is still unfolding. Learn from others on the journey.

Want to share your story?

Contact us

Close

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