Amy’s Story

Site created on December 19, 2009


Amy died.  After careful consideration and knowing that Amy had 2  unknown genes that cause Batten disease - Chad and I decided to have her autopsied. The night that she died, we were in touch with the team at Beth Israel Decentness Hospital at Harvard University. We followed Amy to the mortuary - I packed her in wet ice myself. At 6:30am I followed her to the pathologist office and they removed her brain taking only a small lock of her hair which they gave to me. Her brain went to the Airport and I came home alone. For three months we'd wait on the autopsy report and the findings of Amy's disease. She'd had whole exome - whole genome - all mt and nuclear DNA testing for mitochondrial disease and testing for Huntington's disease and all of the 'known' at that time Spinocerebellar CAG repeat diseases tested for. Nothing was found - but Amy died. She left us and she seizure to death.
The results of her autopsy and the neuro-pathological research and findings on Amy's brain are complete. Amy had severe Cerebellar disease - so severe in fact that her brainstem and pons were gone. The cerebellum was heavily damaged. This can be seen in diseases like Niemann Pick type C BUT the purkenje cells in NPC appear as though they were torpedoed. Amy's purkenje cells are gone. Her brain died. This is more commonly seen in Huntington's Disease or Huntington like Diseases. Amy's brain looked like what they would see in Spinocerebellar Ataxia type 1 or type 2. Very few know of these very rare diseases that are CAG repeat diseases and the best known CAG repeat disease is Huntington's disease.
We had to have this done. We had to know what killed our child. Knowing doesn't bring her back. 

Newest Update

Journal entry by Amy ❤✞✞ Bac ❤✞✞

Twenty months since you left us sweetie. I photo-shopped your picture into Bell as you wanted to be Princess Bell in Disney World. You would have been beautiful. You were always beautiful. We donated your van to a little girl with spino-muscular atrophy, she needed the van and we did not. I've written 50 novels and published them on amazon - every dime they earn goes to research in Spinocerebellar Ataxia - we've set it up so that even after we're gone the money will still go directly to research. Daddy and I opened an endowment in your name to help other special needs families. We've given to make a wish in your name and we're involved in fund raising for research. We're doing good and positive things in your name. The novel or yours has been a 3 week number 1 best seller twice in a year and a number 1 best seller for three times in a year. "Something's the Matter With Amy." Someone left a single star and we thought that would drag down the novel from best seller - but amazingly people saw that and felt it was your stalker and downloaded the book again! KDP said the rating of the book doesn't count, it's how many times it's been downloaded. We do a give a way and the book is downloaded like CRAZY keeping it up in first place. On another note, we donated one of your oil paintings to the Walk - and - Roll ataxic foundation  - sold for 1600 dollars AND the buy GAVE it BACK to Daddy and ME! So much good is being done in your name sweetie. You're still with us. Every step we take we feel you with us - guiding us and guarding us. Yesterday, Daddy found a turtle in the road and he got out and saved it - busy interstate. We thought of you and how you'd want that turtle saved. We bought a huge angel for your grave - four feet tall - you'd love it. Dr. Chung is still close to me - she's the best geneticist in the world - still at Columbia University.  Dr. Bash is around as well, friends on facebook - he loves watching your old videos - he says he'll never forget his  pony girl. All the team at St. Joes follow on your facebook page - and the nurses - Whitney is still closest to me.  Charlotte died. Mrs. Patt comes around sometimes. I still talk to Mama Carrero and Mrs. Ruth, Mr. Litchfield and Mr. Boatman and your music teacher. They're all kind and don't forget me. 
It's hard without you. My days were therapy and Doctors and AFOs and shoes and feeding tube and finger pricks for blood sugar and shots you were so good to endure. The wheelchair and the lift, the bathchair and straightening your hair. We had fun. Feeding ducks and walking around the pound. Going to the Regency Square - the ladies in the ice cream parlor still ask after you. The movie theater gave out free tickets to the Lion King because it was your favorite. Daddy cries but I'm not supposed to know. I cry and he holds me. The house is empty Amy.  The house is quiet without you here. We still play Disney movies - they have a new channel - Disney Plus and it's an app. We leave it on. Finding Dory - remember when you and I went to see that and I took you out to Chinese and lifted up in my arms and carried you to your chair and you were tall as me? I never complained. No matter the pullups or the seizures or you pulling out the mic-key button. I never fussed. We were in this together. I'd have taken care of you forever.
Remember how you cried Meniere's disease because that's what I was diagnosed with. I didn't have Meniere's sweetie. I have Spinocerebellar Ataxia. After you died I knew I had to figure out the shaking and jerking. I had the MRI in December when you died in October - cerebellar disease. I had a follow up a few months ago and was accepted into the ataxic research program - same one you were in. You diagnosed me. When your autopsy came in - I was diagnosed and my mom too. I don't know how you stood these constant jerks. I admire you more now than before. I started the anti-seizure medication last week - I was already on Levo-dopa - and I'm on the gut medication as that's shutting down. I take drops like you to dry up the drool that chokes me. I'm using thickner. Daddy picked up my scooter  - I have a power chair as well.
I love you, Amy. I'm not afraid of dying. You're in heaven - heaven is where you are. We'll have so much fun baby, just like we use to have. I'm sorry I gave you this disease. I'm sorry my mom died. I missed my mom all my life and now I'm missing my child. I love you, babymine. I Love you forever. You'll leave a legacy behind. Mommy and Daddy have things set up so that you'll help other children like you for years and years to come. Your life was worth living. You were a gift that will keep on giving. We honor you Princess Amy - All my love forever and ever and ever and ever. Mommy-me - forever - Christy - Amy's mom
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