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 seizures 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. So far, all blood tests for the genes known (at this time) to cause NCL have been normal. We have been working with researchers here in the USA and other countries.

When Jacob was diagnosed, we were told by the neurologist that Jacob would become blind and unable to walk in about a year. We are now over three years since his diagnosis and Jacob has his vision and can still walk. Dr.’s don’t know everything! Since his diagnosis, we have seen progression of the disease. Jacob’s MRI’s are no longer normal and showing some loss of white/grey matter. His EEG’s remain abnormal. They do not show any epileptic discharges but his brain waves have slowed. We have seen some short term memory loss, worsening gait, more severe behavior issues and a decline in his speech (over summer 2011). Jacob went through a series of testing to determine where his overall skills are at. Although it appears Jacob is advancing, when you add his increase in age to what he can do academically and physically and compare to previous professional testing, he is getting even further behind. He has a severe deficit in visual processing. Visual processing is not an actual problem with the eye but the neurological connection for the mind/body to react to what one sees. An example would be that Jacob sees a wall and yet walks into it. He sees it, knows it is there but the reaction he has come upon the wall is missing. We continue to learn ways to work with him making things like his school work easier to do by minimizing what he sees on the page. He can easily go into sensory overload by noise or his surroundings. I could list many more things but overall, I like to think he is doing awesome!

This past summer (2011), we attended the Batten Disease conference in MN. While there, we met a researcher who works with unknown NCL’s. As I sat during his presentation, words became so familiar. I quickly grabbed the binder I brought with summary reports, test results and images of biopsies. I showed the researcher what I had and I was amazed at how intersted he was and he was putting things together before my eyes! Up until now, nobody has tried putting everything in Jacob’s medical history together. The most recent biopsy Jacob had revealed a lot of abnormal mitochondria. We have a summary report and images that were clearly marked with each type of abnormal mitochondria. We have continued to work with this researcher sending what we had, MRI cd and what he obtained from others who have done testing. Jacob still has a unspecified form of NCL but now he has NCL and mitochondrial overlapping. Just as I had suspected, he does in fact have mitochondrial issues which really does explain his history. I don’t have any specific detail on the mitochondrial aspect. He is now taking what is called a “mito coctail” which are additional suppliments.

We are racing the clock to discover which form of NCL Jacob has. Right now the clock ticks faster every day. We are hopeful that there will be a treatment or cure for this disease. His life is so precious and we are truly thankful for each day God Blesses us with him. We are thankful for the support we get from our “Batten family”. Please keep Jacob and our family in your prayers.