A Better Life for Christian

My name is Chrissy Gerolimos. My husband (Al Santucci) and I were married in 2007 looking forward to having happy and healthy family. Currently, we live in Fair Lawn, NJ with our 4 beautiful boys. Christian, whose 15, Angelo & Stefan twin boys who are 11, and Mario who is a big 6. They are just like ordinary boys; they love animals, super heroes, fighting with each other, cartoons, video games and playing outside with their dad.Christian was born healthy, happy, and very bright. He was verbally advanced when he was young. However, when he was 3 years old he started becoming sick frequently with ear infections, high fevers, frequent falls with bruising, and was frequently hospitalized. He was failing to meet his milestones. He began to have problems with his eye sight and tasks that he could once accomplish became too difficult. Medical professionals were unsure of what the cause was. After multiple appointments with the pediatrician, the eye doctor, neurologists, geneticists, blood work, and hundred of tests at the Children’s Hospital in Washington (CHW), we finally learned of Christian’s diagnoses. He was then 5 years old! He was diagnosed with Leukodystrophy/ POLR3A. We met with the team of genetic professionals at CHW to hear the devastating news and that there is no cure.At this time , I was 6 months pregnant, and we learned that there was a 25% chance of our other children to have the disease. The twins Angelo and Stefan, were born healthy without any problems, but soon after were also diagnosed with Leukodystrophy/POLR3A. Mario, our youngest, has the gene, but is only a carrier. He is developing well at age 5. WHERE WE ARE AT NOW Christian has advanced disease; he is paralyzed, requires a wheelchair, tube feedings and is dependent on another for all of his care. He he no longer speaks and will become frustrated if he is unable to express his need. He suffers from tremors and leg cramps. In addition, he is on medication to control seizures. He still enjoys watching movies, listening to music, going for walks in his wheelchair, and being a practical joker. His twin brothers, Stefan and Angelo, have poor balance, poor hand eye coordination and tremors. Angelois now also wheelchair bound. Stefan will soon require a walkers and/or wheelchairs. They require help with simple tasks like dressing and feeding themselves. They enjoy Xbox, boy fights, and movies also. Mario is not physically affected by the disease, but will continue to need support to help him grow and cope with the families life challenges and losses. He enjoys playing along side his brothers with toy cars and riding his bike. HOW ARE WE DOING We believe things happen for a reason, however, we are not sure what that reason is yet. We hope in the future we will be able to share more on this topic. OUR PRACTICAL NEED A home that is handicapped accessible and friendly. We live in a small house in Fair Lawn. With 2 wheelchair-bound son's and Stefan who will be wheelchair dependent all currently need assistance with meals, we are unable to have meals together in our kitchen .Our one bathroom is small and difficult to use to care for our children and the hallway and doorways are narrow causing transportation difficulties with the wheel-chair. We need to make our house handicap friendly to provide for our family and children. We desire to provide them with the quality of life and positive family times our children deserve. HOW YOU CAN HELP We need the funds to make this happen.Please give as little or as much as you can to meet our first goal of $50,000. As we see funds come in, we will obtain estimates of the handicap renovations needed. We can't do this without the help of others who understand, and we are so very grateful for those in our life who care. Thank you for taking the time to read some of our story. https://rarediseases.org/rare-diseases/leukodystrophy/#general-discussion