I have a son, Preston, and when he was nine months old, he was diagnosed with Niemann-Pick disease type AB.
We took him to a regular doctor visit, and they noticed his liver and spleen were enlarged. They sent him over to our local hospital for blood work and an ultrasound. Immediately after getting the results, they sent us to Atlanta, GA. The doctors there really expected him to be a lot worse than he was, but he wasn’t.
He had started sitting up, feeding himself finger foods and pushing backwards in his walker. Recently, he has stopped doing all of these things. He is now in the hospital in Macon, GA with pneumonia. He is currently 23 months old. Many of the doctors we have talked to, do not have a lot of information on this disease and we have been left in the dark.
We have finally met another family who is going through the same thing, except this is the second time around for her. We are very blessed with our little angel and hope for a miracle!