Amy Haven ✞Finding Amy✞

First post: Dec 20, 2009 Latest post: Jun 11, 2020

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.