WhyIFight Heather: “I WILL NEVER GIVE UP IN MY FIGHT AGAINST BATTEN DISEASE. THAT IS MY PROMISE.”
Heather’s fight began in 2007, when her oldest of two seemingly healthy sons was diagnosed with Batten Disease at age 4.
For seven years, Heather and her family lived out their worst nightmare. They fought to make life bearable for Nicholas, and to maintain any sense of normalcy. They fought, and continue to fight, for a cure for Batten Disease.
Batten disease has received little public awareness and exposure until recently, when Hollywood Producer Gordon Gray (Miracle) announced that both of his daughters were diagnosed with this rare, degenerative neurological disease. He, with the help of many Hollywood celebrities, launched a global fundraising campaign via social media, literally racing against the clock to find a cure. To date they have raised over $1 million, which is about half what is needed.
Heather’s own fight story takes place far from Hollywood. Nicholas passed away on his 11th birthday, in 2014. Heather and her family are determined to keep their promise to Nicholas to continue to fight for a cure. In 2009 they founded Our Promise to Nicholas Foundation.
Thank you, Heather, for sharing your story with us. As with many stories, we know this was a difficult one to share, and we welcome you to the Everybodyfights Community.
My story begins with the birth of my older son Nicholas. He was born on a beautiful Friday afternoon on May 9, 2003, only two days before Mother’s day. After a non-complicated pregnancy and birth he was born at 9 pounds 3 ounces. I had a huge, beautiful baby boy. He was high energy but met all milestones as a baby and toddler. We added to our family three years later with another son William. Life could not have been better.
The day after Nicholas’s 4th birthday, our life turned upside down. Nicholas’s teacher greeted me at the door when I arrived to pick him up at daycare. She told me she could not get a hold of me by phone, and Nicholas was rushed to the hospital by ambulance. I felt the blood drain in my face and as I held William in my arms. I met my husband at the hospital emergency department to see and hear Nicholas crying and screaming for me. My heart raced, trying to find out the details of what happened. The doctor said he had a seizure.
A month later Nicholas had his first seizure in front of me. I had never seen a seizure before. His entire body shook violently, facial twitches, eyes pinned to one side, his face was pale, lips were blue and he was vomiting at the same time. It was the most terrifying and longest three minutes of my life. I remember holding Nicholas in my arms and yelling, feeling so scared and out of control. Within the next year Nicholas had over 400 seizures. We tried numerous seizure medications, got to goal dose, and still his seizures did not reside. He had a MRI and eye exam, which were normal. The doctors said he “just had epilepsy” and would grow out of it as a teenager. These medications changed Nicholas from a sweet, fun loving, happy, outgoing boy to a child who was angry, insecure, psychotic and sad. But we did not give into his illness. We continued to keep Nicholas’s very active life he once enjoyed with swimming, soccer and flag football.
After trialing our eighth seizure medication combination Nicholas started hallucinating. We took him to Children’s hospital in Boston where he was admitted for a week-long EEG study to check the status of his seizures and try to find the correct seizure medications. At this time he had a MRI and more through eye examination. The ophthalmologist diagnosed Nicholas with congenital retina degeneration. This indicated he was going blind. They suggested that between the seizures and an eye disease, it could indicate another disease called Neuronal Ceroid Lipofuscinosis (NCL), also called Batten Disease. A brain MRI was completed and this time it did show significant brain atrophy. A skin biopsy was also taken which confirmed the Batten Disease diagnosis.
The hospital told us to take Nicholas home and do as much as we could with him while he was able to enjoy life. Batten Disease is an inherited genetic degenerative neurological brain disease. It is brutal, debilitating and attacks all functions of the body. He was missing a gene in his brain that is responsible for eliminating the buildup of intercellular wastes in the brain and nervous system. Over time the buildup of toxins would cause the cells to die. The death of the cells is devastating to the brain and body function. Causing seizures, blindness, dementia, immobility and death in all affected children. Currently, there is no cure for batten disease. We soon learned the cruelest aspect of the disease: children born with Batten disease are born with all functions intact and experience a rapid loss of function after a period of normal development. With the form of Batten Disease Nicholas had, statistics showed that most children die between the ages of 8-12.
We were devastated.
After about six months of crying every day, we picked up the pieces of our life together and tried to live the best we could for Nicholas. We were able to change his seizure medications to a combination so that he had less seizures and side effects. His wish was for a puppy so we went through Make a Wish Foundation and got a service dog that detected seizures. Life was a tiny bit better for him. Our families bonded together to help us cope with his diagnosis. Our community of Bedford, NH wrapped their arms around us, flooded us with love, meals, gifts, kind words and the drive to “get up and do something!” They encouraged us to fundraise to help cure Batten disease. In 2009, with the help of our family and close friends, we developed Our Promise to Nicholas Foundation.
Taking care of Nicholas for six years, as he rapidly declined due to the disease, was the most exhausting, stressful, and excruciating time of my life. By the time he was eight years old he needed a feeding tube, complete 24-hour care and was wheelchair-bound. He had over 3,000 seizures by the time he was ten, and it was just a way of life for us, as this disease slowly took him away from us. He remained happy most days, and we tried to make each day important. We visited Disney yearly until Nicholas was no longer able to fly comfortably. I was glad he had some dementia because I don’t feel he understood or knew he was sick. He just accepted life as it was but depended on me. I was grateful for the therapists and nurses who helped me give him the best care. I was determined to never give up my promise to him, which is to fight Batten Disease and take care of him the best I was able. That was my biggest battle.
Sadly, Nicholas passed away May 9, 2014, on his 11th birthday, and two days before Mother’s day. He had a rapid decline for 6 months and then he suddenlygot pneumonia. His body quickly shut down and was nearly in constant seizures from the deadly virus, and batten disease closed his brain. I will never forget the suffering he endured in the end of his life. All I could do was love him, hold him, and let him go to heaven when it was his time. The day Nicholas passed away our community gathered in our yard to release over 200 green balloons and they sang Happy Birthday. My husband and I cried at the sight. We are deeply moved and honored that Nicholas touched so many lives beyond our own.
Nicholas turned our world around. Our experience has given us the opportunity to meet many amazing people. We have been fundraising for 7 years and have raised over $350K. Currently our foundation is funding two promising research projects. One focuses on stabilizing mutated proteins in Batten Disease and the other is developing a natural history and biorepository database for INCL and INCL. We are also funding our third research symposium in Bethesda, Maryland, bringing expert researchers and scientists from all over the world together who specialize in batten disease. OPTN has started a sister organization called Batten Research Alliance (BRA) which is currently a portal website for scientists to submit their research proposals to be funded. OPTN has supported the funding of nursing care at the BDSRA, which is the national Batten Disease organization conference. During this four-day conference, each child with Batten Disease receives expert medical attention.
I miss Nicholas every day. I feel blessed he is my son. Although Nicholas is no longer fighting with me by my side, he is fighting with me in my heart. I will never give up in my fight against Batten Disease. That is my promise.