We wanted to tell you a little about our older son Joseph and why he is now with our family in a heavenly way. Joseph loved to read, do math, play baseball, watch the Red Sox, eat chips and salsa, drink hot chocolate, play with his Hot Wheels cars, play the piano, ride his bike and scooter, swim in our pool, play Wii, write stories and music, and be with his family.
Late summer and fall of 2012 Joseph was dizzy at times, said he had a hard time hearing in class, and we noticed his right eye was at times off center. From late summer to late fall 2012 we had his hearing checked, auditory processing testing done, speech and language testing done, cognitive testing done, and an eye examination done. His hearing was normal, his auditory processing skills reduced, speech and language skills reduced, and cognitive skill reduced and the eye specialist suggested surgery. We received a second opinion from a behavioral optometrist who after intake paperwork and an examination showed that light therapy and eye training could improve his vision. I sought out a pediatric neurologist that was highly recommended and finally got an appointment with one in October. All paperwork along with our own concerns and the school’s concerns were sent. I received a call from that neurologist’s office and I was told by their office that “the neurologist was not going to see Joseph because it sounded like his issues were behavioral.” I continued to seek another pediatric neurologist who gave us an appointment, listened to our concerns, and scheduled an MRI for the earliest date possible at any location in January, 2014. On January 24, 2014 our sweet Joseph was diagnosed with a terminal brain disease. We saw a specialist in Boston, conferred with another specialist in Minnesota, as well as other specialists in the United States and France. After sending Joseph’s paperwork, blood work, and MRI report we were told that this particular disease was not treatable at the stage it was found and could expect 6 to 12 months more of Joseph’s beautiful life.
First, this disease of X-ALD affects approximately 1 in 20,000 boys. Second, NYS passed a law mid-summer 2013 that all newborns would be screened for ALD, prior to this even if a parent had genetic testing done ALD was not one that was tested for. Third, ALD is identified if either you have a family history (which we did not), another sibling who has passed away from the disease, or you get a concussion or sports injury and have an MRI done and it is detected very early. Fourth, by the time a child shows symptoms of ALD it is too late to treat, as in Joseph’s case. Therefore unless these circumstances occur for it to be detected, early bone marrow transplant is not an option at all. Fifth, approximately 95% of time X-linked ALD is from the mother and her DNA make up which she unknowingly passes to her child. After having my DNA and Matthew’s tested, neither of us carry the gene for X-ALD. They said that this is rarely ever the case. I was told that by the expert we saw in Boston that in 5-7% of cases they call it a de novo mutation. That means in 5-7% of the cases of X-ALD there is no link to the mother and it is considered a random, unexplained, unfortunate occurrence. Over the course of 2013 Joseph gradually lost skills. In the middle of April 2013 he completely lost his vision. In April and May of 2013 his ability to speak became one or two words at most and by late summer and fall it became vowel like sounds, crying at times, and thankfully smiling and laughing. By November and December of 2013 his walking declined significantly until he was unable to handle more than transferring into his swing, his adaptive chair for meals, and his bed. His hearing and comprehension continued to decline but we truly believe he could still hear mom, dad, Matthew and those he loved and knew best until his last day with us. His sense of smell became very heightened and he would smell mom, dad, and Matthew and at times would say our names and have a big smile on his face after smelling each of us. He liked to hold one of our hands especially at mealtime and bedtime.
We always said that we would always do the best we could as a family and that’s what we did. We loved each other, stayed as happy as we could, and made the days count instead of counting the days. Joseph was so brave and Matthew was the best brother ever. Matthew was even given a framed official Best Brother Certificate from the Town of Poestenkill for his endless acts of love, loyalty, bravery and courage for Joseph. We went on our Make A Wish trip to Give Kids the World Village in Kissimmee, Florida and had the best week of our lives. With the help of close family, close friends, and our church family we were hugged in support, help, and love to make our days filled with love and joy. We are also grateful for the unending support for our family from Dr. Wayne Hogan in Mechanicville, Dr. Joanne Porter from the Journeys Program at Albany Medical Center and those on our Hospice team. Joseph went to heaven on March 7, 2014 and we will remember and love him forever. Joseph brought endless joy to our family and he used to say “It’s so great being a part of this family!” and when asked last year what his best day ever was he said “All the days!” All of the days were certainly a gift and joy that we as a family will always treasure with Joseph! We set up Joy From Joseph, Inc. in honor of Joseph to keep his memory alive to help other children and families facing life threatening diseases and terminal illnesses.