Nicholas’s story

Nicholas was born on May 9th, 2003. He was a beautiful handsome healthy boy at 9lbs 3 oz and 22 inches. His only difficulties coming into our world was that he was extremely hungry and also always had a difficult time settling down to sleep. He needed a lot of love and patience but we figured out his needs to make him happy. He met all the age appropriate milestones for an infant.

Nicholas went to daycare full time at 4 months and I went back to my job as a renal dietitian at a dialysis center. He always had a difficult time leaving me in the morning but after 20 minutes he was able to join into the class activities. He grew into a happy, caring and social boy that everyone wanted to be around. He started off as a leader and he had a lot of good friends. He always welcomed the new kid into class with open arms and got everyone to play trains, race cars and superheroes. He was also able to communicate to me that his feet hurt often by holding them and crying. Around the age of 2, I noticed that although Nicholas was very social he did not pronounce words correctly. I told our pediatrician my concerns and he was tested by a state program called “birth to 3″ but he did pass with flying colors. Our doctor at the time told me his speech would take time because he had so many ear infections as a infant he heard words incorrectly. And his feet were just “growing pains” I excepted that and moved on.

We moved to NH from CT when my husband finished his medical fellowship. Nicholas started a new preschool at age 3. He settled into class very well.

Two days after Nicholas turned 4 he had a seizure at school. We thought this seizure was going to be a one time thing as we had celebrated a lot for his birthday. We also thought maybe things were over done and he was over tired. A month later he had his first grand mal seizure which lasted about 25 minutes. We scheduled to see a neurologist for a MRI and EEG study. The MRI at that time came back normal, but when we went back to review his initial MRI a year later and there was a possible slight cerebellar atrophy.

We started Nicholas on numerous epilepsy medications. But, he was never controlled after 1 1/2 years having had over 75 seizures we still thought this was just the path of epilepsy. He was on Carbatrol, Tegretol, Depakote and lastly Trileptal. Always reaching a maximum dose and never under any control. Also leaving him zoned, tired, agitated and extremely hungry. I always felt he was a time bomb for another seizure but we did not let that slow down our busy schedule. Nicholas was still involved in swimming, T-ball, gymnastics, tae kwon doe, flag football and soccer. He loved being involved so we didn’t stop in his activities unless he had a seizure or indicated he didn’t want to attend.

Turning 4 years old it was a difficult year for Nicholas. I noticed a lot of changes. His behavior became extremely difficult. He had a lot of out outburst, agitations, obsessive behaviors, became very emotional as well as violent at times and started to be distant from friends. Settling down to sleep at night continued to be difficult. I was on my way to find a behavior specialist to help me understand him better. I thought this behavior was related to the birth of his brother William in the fall of 2006. Nicholas next was diagnosed with ADHD and put on Concerta by our neurologist. That helped a little with his behavior by slowing him down but that also left him more anxious and zoned. Which was not my goal for his behavior. During this year Nicholas started to watch television close and put books to his face when looking at them. I alerted our pediatrician and we went to two different ophthalmologist. The first ophthalmologist reported he was fine and scheduled a visit in one year, the second ophthalmologist reported that he was only near sighted and we obtained glasses.

Nicholas breaking point was at the end of August 2008 when he was supposed to start kindergarten at the age of 5. He had started to hallucinate one night by telling us he was seeing “flying dragons” and was extremely agitated for hours. He continued to be uncontrolled on his seizure medications and went through a weekend with 8 seizures over a 3 day span. He was admitted to Children’s hospital in Boston emergency department. Nicholas was diagnosed with toxic encephalopathy due to  his seizure medications (although he was not at a toxic dose). We were sent home on a lower dose of Trileptal. A few days later he continued to have seizures and hallucinate. We stopped his seizure medications completely at home and held him on Ativan (used for cluster seizures). He finally stopped hallucination. We were once again admitted to Children’s hospital two days later for a week long EEG study. In which electrodes were placed on his head and they watched his brain activity during day and night for a span of 4 days. The doctors were still puzzled why he did not have seizure control for the past year. I reviewed with them in detail Nicholas history from birth and stressed that Nicholas had not progress since the age of four. We were then scheduled to see an ophthalmologist at their hospital (since Nicholas could not even see the TV in our room), genetic testing and another MRI.

The ophthalmologist reported that Nicholas had congenital retina degeneration and is actually legally blind. And the doctor alluded that he may have NCL but did not give us any details. He then had a MRI done which showed significant brain atrophy from the past year. Having these findings both pointed toward the diagnosis of NCL/ Batten disease. Lastly he had a skin biopsy done which came back positive for Batten disease.

Since the diagnosis we are better able to provide Nicholas with the services that he needs. We started him into a new kindergarten class and he is now joined by a LPN. He receives PT,OT and speech all twice a week. In Speech has started to learn sign language for use at a later time. Nicholas continues to take only Ativan for his seizure control which is not a long term plan but he has had good seizure control for now and he is more himself. He seems happier overall and life is easier. We try to make everyday a “good day” that counts.

Nicholas is currently still very active. He only continues to be involved in soccer but he still enjoys swimming, playing on the play ground and being with friends.

We hope to be eligible for a Batten disease study to slow or stop the disease. So in the mean time we are focusing on enjoying Nicholas today and fund raising for a cure.

We love you Nicholas!

4 Responses

  1. RisaI wish says:

    My younger sister is a classmate of his right now. She speaks very highly of Nicholas. I wish him and his family the best of luck!

  2. Jennifer rogers says:

    Heather, My name is Jennifer and I am the owner of hollywoodhounds. I have been touched by your story and I would just like you to know that our thoughts and prayers are with you and your family. If you need anything we are here for you . Sincerly, Jennifer rogers

  3. Donna Gartelman says:

    I didn’t see the story on the news last Thursday, but from the advertisement of the news piece, I had a feeling that your son’s disease was the same as my grand-niece in Corinth, NY. My suspicions were right, she too has a form of Batten Disease, late infantile NCL. My thoughts and prayers are with you and Nicolas, as well as with Kaitlin Bowman. Kaitlin’s mom is a great advocate for her and I know how much advocacy is needed for these children affected with Batten Disease. In August there is a benefit for Kaitlin which I participate. If, I can help with any of Nicholas’ benefits, please let me know. I live in New Ipswich, NH and would like to help.

  4. Sean X. says:

    I will say prayers for Nicholas. That’s all I can do. I’m disabled Veteran. There are so many people that are worse off than I am. I thank God I’m not as bad as others with grater disabilities. Each day we wake is a blessing. Keep the Faith.

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