At 9 months old, it became apparent that something was abnormal about Taylor’s eyes. His family had done countless tests and retests — and the best answer they were given was “it could be” a number of rare genetic eye defects. They worked with geneticists locally who left them with more questions than answers.
As he grew, Taylor’s vision declined to the point where he had lost all functional use of his vision. Then, Taylor'[s hearing started to rapidly decline as well.
“He always had several ‘mysteries’ about him — as we call them — things that I strongly felt had to be connected to whatever was effecting his vision and hearing lost: Unexplained weight gain, insulin resistance, constant colds and sickness, and many other things his pediatricians always attributed to poor diet,” his mother recalled.
Finally, Taylor’s Ear, Nose and Throat doctor listened and referred him to the Children’s Hospital of Wisconsin. “At his first appointment with the genetics department, we immediately felt this time someone wanted to help us,” she said. “They truly listened to what we were saying and connected us with a case study focusing on genetic disorders effecting the eye.”
Upon evaluation of Taylor by the genetics team, it was determined that he likely had an extremely rare condition, called “Alstrom Syndrome.”
Upon reading the list of symptoms, the family finally felt it had an answer to all the mystery surrounding Taylor. A primary complication of this syndrome is cardiomyopathy (as well as other internal organ complications). Taylor’s heart was checked as soon as possible.
Again, local doctors were unwilling to do any type of cardio evaluation based off a “hunch.”
“At the end of our rope, we called the Children’s Hospital and they scheduled a full cardio- screening for him,” she said. “I cannot express how grateful we are to be connected with the Children’s Hospital of Wisconsin and their amazing team who has always listened, even when others did not.”