JP has always been a happy kid, easy going and full of life. He loves sports that involve a ball. He played baseball, basketball and lacrosse in the past. About the age of 3, we noticed JP was very clumsy. He fell a lot and we thought he just had “low muscle tone”. We put him on a swim team, got him PT and hired a personal trainer to work with him a couple days a week. JP was also struggling in school. Going into 2nd grade he was diagnosed with ADD. JP got an IEP and we had a tutor coming to the house working with him. Even with all the support at school and at home, the gap wasn’t closing of where he should be compared to his classmates. At the age of 7, around the same time of getting him extra help we noticed his eyes didn’t move up and down and he couldn’t converge. Again, we got him help by sending him to a vision therapist weekly. He started having accidents in his pants, couldn’t get to the bathroom fast enough.
We knew something wasn’t right at his point. We brought him to many doctors to find out what was going on. We would google search his symptoms. We started changing his diet, adding different vitamins, trying different things. In the winter of 2013 we met with his neurologist and he said that he was going to send us to Boston Children’s Hospital. We scheduled an appointment and met with a neurologist. After JP’s exam he wasn’t too concerned. We were just finishing up and the doctor asked us if there was anything else going on. At that time, Mollie started to speak up. As she was speaking up, I was trying to hush her and say it was nothing what she was going to share with the doctor. She continued to tell the doctor that when JP laughs he kind of loses control of his head and shoulders and flops over. At that time, the doctor said if we wanted to do a skin biopsy to rule out some diseases he would do one. We didn’t hesitate and scheduled the appointment for the skin biopsy right away. We went out in June for the procedure. The doctor told us that it takes three months for them to grow the cells and we scheduled our appointment for September 18th to get the results. We came home, JP finished 4th grade and Mollie finished 7th and we all had a great summer. The last week of August we went to Orlando, FL for our family vacation. We swam with the dolphins at Discovery Cove, went to Sea World for a few days and Busch Gardens. While we were in Florida we noticed JP was having these drops again when he was just standing there. He wasn’t laughing, just standing watching TV and would lose control of his head and shoulders.
School started and JP loved his teachers and Mollie was excited being on team 8-2. We knew that JP was going to be in good hands at Arongen and have a great year. The second day of school we got a call that JP fell to the ground and hit his head but he has ok. The school nurse asked us if maybe these could be seizures?!?! I called our pediatrician and the doctor called me back. I described what happened and asked if maybe he could be having seizures. The doctor didn’t think with all the “other” symptoms that JP was experiencing that now he had seizures.
The next morning JP was brushing his teeth in the bathroom getting ready for school and I watched him have about 6 drops with his head and shoulders. At that time, I went downstairs, called in sick to my job and brought JP to Albany Med. He was admitted for four days. The results from the 30 minute EKG showed no seizures but a lot of seizure like activity. JP was then put on seizure meds. We went home and our life had changed. Our son had epilepsy!
A week after getting out of Albany Med we drove to Boston Children’s and this is where our life did change forever! We were given the devastating news that JP has Niemann Pick Type C (NPC) disease. NPC is a rare neuro-degenerative disease that primarily strikes children before or during adolescence. NPC is an inherited cholesterol metabolism disorder. Symptoms can include deterioration of memory and balance, lung and liver failure, delayed motor development and seizures. The disease usually appears in early childhood, leading to neurological problems that there is no cure for at this time. This disease is known as childhood Alzheimer’s. While there is not yet a specific treatment for NPC, supportive therapies are available. These include medications to control seizures, abnormal posturing of limbs and tremors. Physical, speech, and occupational therapy are also used to help with daily functioning.
This is a horrible disease that he is battling. It has been almost 2 years since his diagnosis and we have learned a lot. He is now on seizure meds, cataplexy meds and a drug that is hopefully slowing down the progression of the disease. He is also getting a spinal tab every two weeks at Albany Med of a trial drug to help slow down the progression. He usually receives this on a Thursday morning. He has now received twenty injections and he seems to be handling them very well. He does get a hearing test every month because hearing loss is part of the disease and also a side effect of the trial drug. We are concerned because he has been losing hearing every month. Another concern for us and his doctors is that he has lost 25 pounds since he was diagnosed. We are always encouraging him to eat throughout the day and to finish his meals. He does have cataplexy, sudden drops of the head and shoulders especially when laughing, but it seems to be under control with his new meds.
JP loves school and is always willing to give his best