Jacob’s Story

Jacob was born on November 28th, 2002 (Thanksgiving Day). He was 4 1/2 wks early. He was placed into our arms by his loving Birthparents, Christy and David.

Jacob began to have problems at one week old. When we were finally able to bring him home from FL., he just kept getting worse. It was unknown to all that Jacob would become a special needs child. Over the yrs. he has endured so many tests, therapies and surgeries. Through it all, Jacob remains to show us that he is a fighter.

Jacob was diagnosed with Cerebral Palsy at the age of 15 months. At the time that news was not easy to handle. Still, Jacob worked hard with his therapy and we did make progress. It was very slow progress but it was progress. At 19 1/2 months old, Jacob had greater difficulty eating and drinking. He then stopped eating and drinking all together. Jacob had always had silent reflux, which we tried to control with medications. Then it came to a point where he had to have a feeding tube placed at the age of 20 months. Again, that news was hard to hear but we worked through it. The feeding tube became a part of him and saved his life. We’ve had our ups and downs with trying to get him to eat but are thankful that we still have this tube to keep him nourished.

In July 2007, we took Jacob out of state to a feeding clinic in Richmond, VA. It was an attempt to wean him from his feeding tube. While there, Jacob began to have seizures. At one point, they were every two minutes apart. We stayed in Richmond working with a neurologist hoping we could complete the program. After nine long weeks, we returned to MI with Jacob eating 100% oral and a diagnosis of epilepsy. Eating 100% oral did not last long. The stress was too hard on his system and the seizure were not under control. We had a strong feeling something else was going on aside from his diagnosis of Cerebral Palsy. Because of his difficult to control epilepsy, Jacob was under the care of a different neurologist. We told him Jacob was now heat intolerant, his chronic fatigue was worse, his speech was fluctuating more and he was becoming more unsteady. Jacob then had a muscle and skin biopsy to test for Mitochondrial Disease. Labs were coming back negative for Mito.

On April 14, 2008, the Neurologist’s nurse called and said the doctor wanted to see us first thing in the morning. We were then given the most devastating news. Jacob has a rare degenerative neurological disease called Neuronal Ceroid-Lipo fuscinoses (NCL or Batten Disease). We are currently testing for which form of this disease Jacob has. It is believed he has an unknown variant of the late infantile form (LINCL). No matter what form he has, the outcome of this disease is always fatal.

Since his diagnosis, we have seen progression of the disease. He has lost skills he once had. He has lost muscle tone and his gait has become even more unsteady. He began treatment for mild sleep apnea. His fatigue has increased and he spends a lot of time needing additional rest. A retina specialist confirmed early stages of retina degeneration.  A recent MRI shows mild loss of white matter and other areas of deterioration. His behavior is difficult to control even with medication and the supervision of a behavioral specialist.

We are racing the clock to discover which form of NCL Jacob has, and then an additional race against time to do fundraising for research which may find treatment or a cure. Right now the clock ticks faster every day. We are spending what time we can with him and trying to build on the memories. His life is so precious and we are truly thankful for each day God Blesses us with him. Please keep Jacob and our family in your prayers.