Abby's Inspiring Journey
Abigail Alvey's journey is a poignant narrative of courage, determination, and the unwavering spirit to defy the odds.
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Abigail Alvey's journey is a poignant narrative of courage, determination, and the unwavering spirit to defy the odds.
Abigail Alvey went through an emotional rollercoaster of a diagnostic journey that is all too common for children diagnosed with Niemann-Pick Type C. At just 2 weeks she scared her parents with bruising all over her body. Doctors quickly worked through to determine what was the cause and she was hospitalized for weeks. She almost went through a life risking surgery for a inaccurate diagnosis of a disorder called Biliary Atresia. Her family decided to take her to a hospital that had an appropriate specialist at Children's Hospital of Philadelphia (CHOP). Abigail spent months going through intensive testing and traveling back and forth from hospitals to home only to determine that she was "fine" and the problem with her liver had resolved with only minimal scaring and a swollen spleen.
She would go home with some medication and a central line for a little while, but otherwise started growing and developing like normal for the first two years of her life. Everyone thought how lucky she was to have avoided such a terrible diagnosis.
It wouldn't be until she was 2 that we started noticing a worsening mass in her abdomen which was her spleen enlarging more. Health professionals would continue to dismiss our concerns.
We eventually went to see hemonc and genetics and they too couldn't figure out if there was a problem. They even ran a test that tested for similar disesase but excluded NPC.They offered a whole exome test, but advised it would cost thousands.
Another year would pass before we started to notice weakness, shaking, more falls, worsening speech, and cognitive delays.
After she would start to show signs of collapsing when excited (Ataxia) we said enough was enough to the medical gaslighting and decided to take Abby back to CHOP. They had her seen by someone new. A world-renowned expert in his field Dr. Can Ficicioglu, MD, PhD, is Director of the Newborn Metabolic Screening Program and the Lysosomal Storage Diseases Program. After reviewing her history and then seeing us right before her 4th birthday we received the worst birthday gift you can imagine. He took seconds to look at her and tell us she had Niemann-Pick Disease. We returned to Virginia devastated and awaited the confirmation. Abby would be confirmed to have NPC and we were told to go make memories as there is no cure or approved treatments.
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