For the past seven years, my sweet husband (Constantin, now 34 years old) has been struggling with Wilson Disease (WD). Constantin's symptoms started when our son Traian was only 3 months old, and we were just learning how to be parents.
Some of Constantin's first symptoms included excess saliva, toe and hand cramps, tongue and body tremors, dystonia, slurred speech, and balance loss. It took us 6 months from the start of his serious symptoms to get a diagnosis. By many measures though, we consider ourselves very fortunate to have gotten a diagnosis within that timeframe, especially when we have heard the plight of others in the WD community. It was quite traumatic at the time though watching the healthiest person I knew, literally fall apart, while I was trying to care for our baby...
Part of the reason Constantin is a survivor is because he was diagnosed “early” enough to catch the fatal onset of the disease (although genetic testing at birth would have been the most ideal solution). However, getting a diagnosis was no easy matter. We ran from doctor to doctor, and every time the doctors were either baffled, told us what Constantin didn’t have, or we were provided a wrong diagnosis. The first diagnosis we received was anxiety and depression, but we never gave up searching for answers because that just didn’t seem correct. I, along with my in-laws, knew that there was something more going on. It wasn't until he took an MRI, and the neurologist saw the "panda eyes" that we were finally on the path toward a diagnosis. The MRI, plus lab and genetic testing, and the discovery of Kayser-Fleischer Rings in his eyes solidified the diagnosis.
Over this period of about 6 to 8 months, the neurological manifestations of WD took my husband suddenly from a very healthy, active lifestyle and holding a full time job in Washington, D.C. to completely debilitating neurological effects of not being able to perform any basic function without assistance. Constantin's symptoms greatly worsened 3 weeks following the start of the chelation therapy medication. The doctors tried to save his liver by getting as much copper out of his body as quickly as possible. As a result, his neurological system was compromised.
Seven years into this WD journey, daily life is still a struggle and Constantin still requires regular assistance from caregivers, family and me. However, his determination to get better means he attends regular therapy (aquatic, modified yoga, neurofeedback, acupuncture, acupressure, speech, etc.) and his many bumps, cuts and bruises are marks of him pushing his limits to overcome. Even these many years later, we are defying the odds and continue to see improvement, although it’s truly a game of patience.
Our hope is to raise awareness for WD, so that we can prevent future generations from the same devastating situation. Early diagnosis and treatment is the key!