Mackenzie Plick, 4, Bound Brook
Mackenzie was born on December 19, 2012. She was a beautiful, happy and seemingly healthy baby. Her first year of life was marked by the enjoyments of hitting all of the expected milestones.
When Mackenzie was 1.5 years old she began losing skills that had previously been easy for her. She no longer was able to pull to stand or walk. As time went on she began to lose her fine motor skills as well. Even with physical and occupational therapy Mackenzie was not regaining her skills. The doctors ran numerous tests, and (incorrectly) diagnosed Mackenzie with mitochondrial disease.
After meeting with many specialists, her diagnosis started to be questioned. After much more testing Mackenzie was finally diagnosed with Tay-Sachs disease. Tay-Sachs disease is a rare genetic neurodegerative disorder that has no treatment or cure. Most children affected by this disease die by the age of 5.
After her diagnosis, Mackenzie's family took her to Minnesota to speak with more specialists who are trying an experimental drug treatment. They are hoping this experimental medication will slow the progression of the disease. In the meantime we are hoping for a more effective treatment to help children with this disease live a healthier life.
"Although Mackenzie suffers from seizures, feeding difficulties and movement issues she continues to be the light of our life. She does not speak but shows love with lots smiles and snuggles."
Steps Together is assisting the Plick family as Mackenzie's mom, Colleen, is no longer able to work as she needs to be home to care for Mackenize. The family's health coverage was provided by Colleen's job which has made the financial impact of this crisis two fold. Mackenie's dad, Brian, was able to obtain insurance through his job but his monthly income has been reduced as a result. The family has incurred costs of hospital stays, testing and travel expenses. Steps Together is also committed to raising awareness about Tay-Sachs.
To learn more about Tay-Sachs, please visit www.curetay-sachs.org.