We hosted the big Wow in 2015 and 2016 because our youngest son, Alex, was diagnosed in 2010 at the age of 21. Once he was a very active kid and was in Community College at the time, working to transfer to NC State for a degree in Forensics. Alex was diagnosed with Wilson's Disease in July 2010 after several months of neurological decline. In the fall of 2009, he began having issues with speech, drooling and coughing while swallowing that gradually worsened. He had issues with walking and balance and when we looked back, realized the hand tremors we saw over a year ago were probably earlier symptoms.
After a visit to our family doctor, she sent told me that he had a very abnormal neurological exam with cog-wheel rigidity and sent him to Duke Neurology. He had a CT scan which showed basal ganglia infarcts or stroke-like damage. However, it was bilateral, which is not like a stroke. Plus it continued to worsen. The MRI confirmed the damage and the radiologist suggested Wilson's Disease. After much web-surfing, we both had come to that conclusion also and the neurologist decided to do lab testing for Wilson's disease.
All of his lab results confirmed it with a Ceruloplasmin level of 3 (normal is 20-60) and his copper in the blood is paradoxically low since the copper is retained in his tissues and organs like brain and liver.
Alex began de-coppering treatment with Trientine 500 mg, three times a day in August 2010.
He initially declined with treatment and then stabilized, even walking again after spending 8 weeks at Wake Med Rehab. But then he declined even worse possibly due to extremely high levels of urinary copper being released too quickly. We drove 12 hours one night and admitted him to University of Michigan Hospitals Emergency Department and he was admitted to the GI service. Dr. Askari changed his medication to Zinc and he has improved slightly.
Unfortunately the treatment was too late and Alex requires fulltime care for all of his activities of daily living. With constant therapy, he is beginning to walk with the aid of a walker and an assistant and can eat some soft foods. He is happy and we try to include him in many family outings and events.
Our hope is to raise awareness leading to earlier diagnosis and better medications for safer treatments so that others will not suffer the devastating liver and/or neurological effects of this awful disease.
We hope that the video demonstrates to people, not familiar with this disease, how devastating it is. Alex and I are on the right side in the video.