Amy’s Story
Our daughter Amy has a very rare form of Batten disease - so rare in fact that we're only 1 of two families with this Turkish variant NCL in the United States of America. Amy ran and played soccer, baseball, was on the swim team, she sang in church, and was learning the piano. She was diagosed with high functioning autism, mainstreamed into a normal classroom and  doing well but at age 8 she was diagnosed with Lennox Gastaut syndrome. In 2011 the MRI changed and showed atrophy - then began our journey into diagnosis and genetic testing and the finding of this very rare variant gene --- following is the little information that is known of this genetic mutation - Amy carries 3 CLN8 Turkish variant genes:

All children have developmental delay before the onset of symptoms at 2-7 years of age: myoclonic seizures and an unsteady gait are commonly the initial symptoms; other seizures follow soon after. Cognitive decline and visual impairment usually occur. Behavioural abnormalities are frequent. Rapid disease progression with loss of cognitive skills is observed over two years from the time of diagnosis. By the age of 8-10 years severe deterioration of neurological and cognitive skills is apparent together with medication resistant epilepsy. Spasticity, dystonic posturing, tremors, and other extrapyramdal signs are also observed commonly. In the second decade of life children are unable to walk or stand without support. The life-expectancy of children affected for the CLN8 LINCL IS NOT YET KNOWN. THE ELDEST PATIENTS KNOWN are now in their second decade

Newest Update

Journal entry by Christy ❤✞✞ Amy's mom ❤✞✞

Our beautiful daughter fought a short battle with her disease. She was diagnosed with Lennox Gastaut Syndrome and for five years we believed her to have Batten disease. Amy was doing well, she was g-tube fed and she was on oxygen as needed. She lost her ability to walk in 2016 but she crawled for a time. She grew into an amazingly beautiful young girl, her sweet 16 was very special. 
My husband Chad developed cancer and in Feb. of 2017 he had surgery. Everything went wrong and he spent all of 2017 and the first month of 2018 in the hospital. I was torn between him and Amy as he was fighting for his life. He came home and Amy became worse. 
On September 6th Amy looked bad, she looked very unwell, but she was still smiling and laughing and I made a doctor appointment for the 11th thinking she'd bounce back. She didn't. We took the ambulance to the hospital and they found her oxygen was 84 and nothing could get that number up. Her heart wasn't right either and she was having continuous myoclonic seizures. The doctor told me that Amy was at the end of her life. I thought the doctor meant another year, but she said a week maybe. 
We came home on hospice and oxygen. Everything changes. Round the clock nurses and aids, the oxygen tank blaring loud, the suction machine blaring, the pulse ox going off all the time. And Amy rarely was awake and the seizures were constant. Nothing stopped the seizures. Myoclonus had a hold of Amy. We were certain this was Batten disease and we wanted to help other children like Amy get diagnosed.
So we spoke to the doctor that cared the most at Columbia University and arrangements were made to see that Amy's brain went to Beth Israel Hospital for testing. We put a man on the moon 50 years ago, children should be diagnosed! No one should go undiagnosed.
I kept thinking that Amy was strong, she'd pull through this. We needed time and we got that time. September came and went and we were into October. The jerking was a nightmare, the nurses said she was jerking herself to death, the doctor said the seizures were killing her.
She was always a sweet darling child that was more angel than human and we have video to prove how precious she was.
The morning of October 10th Amy had lost almost everything. She couldn't suck, she couldn't swallow, she couldn't hold her head up, it was stuck to the side. She was blind, everything was shutting down and she was in pain. We took the ambulance to the hospital, I was still hoping for a miracle and they tried more drugs there to stop the seizures, but all the drugs failed and would continue to fail that week as the seizures became worse and worse.
We were in a battle, one that we weren't winning and we were fighting hard. Chad and I put on Amy's favorite song, we pleaded with her to not leave us, we prayed over her and more than 4000 people praying with us. She was a good girl, she honestly was an angel
On Friday night October 12th I made my last video with her, Chad kissed her and at 6:36pm she started to have the grand mal (tonic clonic) and nothing worked until they put her under but even that didn't last. The seizures wouldn't let up. More medications, nothing NOTHING was working! How could this be?
Lennox Gastaut, the doctor said and her degenerative disease. The criteria for LGS - slow and spike wave EEG - yes.... Intractable epilepsy - yes.... motor and mental decline - regression - yes...
The seizures continued until Sunday night October 14th at 10:36 then they just stopped. She reached out and patted me on the back. I never left her, not even the room for a minute. I did eat on Sunday by the bed, but I kept hoping for a new miracle.
I didn't get a miracle nor did Amy. The beautiful baby that came into my life and made Chad and I a family was leaving us. The seizure started again and it lasted until 11:34 then it stopped and Amy gasped and it was awful. I held her, Chad held her, we cried. I screamed as she left us. I begged God to let her stay. She was Chad and my only child - we adore her - she was the best child any parents could ever hope to have. Everything that we did we did for her. We didn't know how to live without her. She was our world and she was gone and we were left behind. And our lives will  never be the same. The joy left us.
We packed her head in wet ice as we knew to do. I stayed with her until 4:30 in the morning. I closed her eyes, I held her hand. I cried and kissed her. Chad never left my side. We didn't know what to do. We followed her to the mortuary in our car and saw her safely put on ice. At 6:30 she was taken to the pathologist for the autopsy and her brain and tissue and blood put on a plane for Beth Israel. At 9:50am I got the call that her brain had arrived safely.
The arrangements were made for the funeral - Chad and I were walking around in a daze. Amy had hung on for a month and 8 days - she had fought to stay with us and we'd fought for her to stay with us.
We didn't know if there'd be anyone at the funeral. Chad only has his parents and brother and I only have two cousins. We ordered pink flowers and we prayed everything would look nice. The Pastor was to come, I chose the scripture to read and we could only hope that those that knew Amy would attend.
Going into the funeral Chad and I expected maybe 10 people. We were overwhelmed. All of the nurses that ever cared for Amy were in the room. Amy's doctors were at a table together talking. A nurse flew in from Maryland, another from Washington, DC another from New York and one from Baylor!!! The room was PACKED with medical people. All of the doctors from St. Joseph's Children's hospital were there!! And all of the nurses. The social workers, the hospice team. 79 medical people came to our child's funeral on a Saturday afternoon. Our pharmacist and facebook friends flew in from Alabama and Texas and Atlanta.
Amy and us had touched so many lives, met so many people in Disney World, we'd made friends with Doctors and research specialists and more. We were HUMBLED by how many people filled that room. There was no empty place to sit!!
Amy's school teachers came! Her chorus teacher, her special education teachers for 4 years that she attended school here in Tampa. It was amazing and uplifting and humbling and that was our daughter! All of these people were here because they knew her for the angel that she was. 
Everyone stood up - even the lead doctor - and spoke about Amy at the open mic. Chad and I had spent 900 dollars on a ball gown for her. Miss Universe had sent her tiara and Miss America had sent her sash - Miss Kentucky sent her gown but we'd already bought one and Miss Florida sent us her shoes - rhinestone slippers that were beautiful. 
Our neighbors came and brought her jewelry. She wore her pinky pie pony ring and in her hand she held her small pooh bear and PVC Christopher Robin. We put her favorite toys out on the table for the children that came to take home. And as I was crying and we had lunch catored in, I looked up and Amy's life long best friend from fifth grade until she couldn't attend school any longer a year ago walked into the room crying. Krystal had been our daughter's best friend 7 years and she came to Amy's funeral - Krystal is special needs as well. 
My cousins Marcha and Janie  were the biggest support to us. They didn't leave us alone as we said goodbye to Amy and closed the coffin. I'd never see her again and I was crying so hard - I still cry hard every single day. I cannot say what it's like to lose a child - there are no words - the agony is beyond the heart dying in your chest.
On Monday morning Chad and I woke early and we rented a cargo van - we were taking Amy to the cemetery ourselves, our final trip out with our girl. We had all the paperwork in hand as we were going into Georgia and with the funeral directors help, we loaded Amy's coffin into the van, all of the flowers and there were so many and all pink that there wasn't room for everyone of them.
We drove onto I-75 and we cried and cried and we cried more. 
Six hours later we were in Georgia - my brother who is handicapped was there waiting for us with my cousin Melanie. The funeral home in Georgia was ready, they took Amy out of the cargo van and lowered her into the vault. I was hysterical knowing this was final, I'd never lay eyes on my precious child again. I kept screaming, Melanie holding me, Allen holding me and Chad bent over crying like I'd never known anyone to cry.
She was buried, her suffering at an end. The seizures had won. The epilepsy started early in her life and it took her life. We couldn't leave. Chad and I knew everywhere we went was for and with Amy. And in the cemetery we sat until we met the man about the headstone.
We buried Amy in a plot that my great great grandfather bought back in 1887 - my 2 greats grandparents were behind her, my grandparents to one side with my mother by my grandmother and then Amy with room for me and room for Chad. And many great great aunts and uncles and cousins long dead.
We finally pulled ourselves together and left - the headstone ordered. We stayed the night in a hotel and then headed back south into Florida the next morning. We turned in the van and came home to the silent house. We couldn't forget how she died. And we needed to remember how she lived. Her photos were printed up and placed everywhere, a blanket for our bed ordered with her photos on the blanket. Pillows, a purse, a wallet, buttons, magnets, everything we could find had her photo printed on it and was hanging in the house. WE commissioned another painting done of her with pooh and piglet and eyore. 
And then we left. Chad and I ran away to the Withlocoochee River - we tramped through the woods and saw a bear and snakes and springs that ran into the river. We cried and we cried more. And we had to come back here, to her house, the house we bought for her. 
Chad's still battling cancer, we're thankful he's retired and can stay home. And somehow we've survived without Amy. Our church family has saved us!!! Every Sunday all day with them, ever Wednesday and Tuesday now as well.  Grief counseling twice a week. And clinging to one another and still we want her back.
The death certificate came in and I couldn't look at the thing - and then finally the doctor contacted us. We were so certain it was Batten disease. It wasn't.  Her cerebellum is heavily damaged. Spinocerebellar Ataxia, she had died from a disease that is like Huntington's disease - a dominant gene that is likely CAG repeat.
The diagnosis for Amy - Hereditary ataxia inherited maternally - this is what the death certificate reads, a document issued nearly 9 weeks before the autopsy report came in. What the MRI showed, the diagnosis given in 2011 by one doctor was the correct diagnosis. Seizures - regression - decline - myoclonic - chorea - nastagmis - dystonia - autonomic dysfunction - dysarthria - dysmetria - ataxia - EVERYTHING that happened to our child over the course of 8 years was and is a part of this diagnosis. My mother - my grandmother - my mother's cousins - my mother's grandfather - his mother - my mother's great grandmother - all of her first cousins!!! It was never MS or a wasting disease - it was Spinocerebellar Ataxia.
The diagnosis was there all the time. The diagnosis was Amy's MRIs changing over time. Children aren't supposed to die of diseases like this- this happens to older  people. And it happens slowly over decades. But in children, it speeds up and it's souped us it murdered our innocent child. 
She fit the criteria for Lennox Gastaut Syndrome - but like autism - that's a spectrum and no two children will be the same. How many other children with seizures and ataxia and autonomic dysfunction are out there that have this and are slowly dying? Slowly losing skills? Or quickly losing as our Amy did?
I thought having a diagnosis would make me feel better. Nothing is making me feel better. The joy in my life, the beauty that defined this life for me has died. There is nothing that can compare to losing a child and we have no other children. Our home is empty of the sounds of Disney Princesses and Winnie the Pooh and My Little Pony. The house is empty.
We love you Amy - Mommy and Daddy adore you. You came into our lives and you blessed us a million ways. We couldn't save you and God knows we tried - we went far and wide even the NIH in Maryland. You made us whole. You made us a family sweetheart and we're coming. Heaven is forever and you're healed. You're always our angel. We look for you in the clouds  - as innocent as you are you'll be with Jesus. 
Wait for us baby girl. 
https://www.youtube.com/watch?v=a8evM7gGFl4
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