Memorial created 09-9-2009 by
Harley Kayleen Carson
January 15 2008 - August 24 2009
Harley at only a few months old! Look at how beautiful she is...
Harley had a fatal, rare, genetic, mitochondrial disorder called Alpers Syndrome: a rare, progressive neurodegenerative disease of the brain that occurs in infants and children.
First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy or after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. Pathologically, there is degeneration of the cerebral grey matter.
There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.
Harley started showing symptoms and was hospitalized on 3/15/09. She passed away 8/24/09 at 19.5 months old. We love and miss you, Honey Bear. You will never be forgotten.
Our sweet Honey Bear...
Here's the section for anyone studying genetics or for anyone doing research on mitochondrial disorders. I took this from the report Harley's geneticist (Dr. Stephen Amato, Phoenix, Arizona) gave us. I hope one day it will help further the research being done on mitochondrial disorders (especially Alpers Syndrome):
Harley was found to have 3 potentially pathologic mutations. One mutation had been reported before, a mutation involving DNA in the gene at position 911 with a T to G transversion and a substitute of L to R at position 304 in the protein. There were 2 other potentially pathologic mutations, a 3240 to 3242 duplication that lead to a duplication of arginine at position 1081 and a mutation at position 1174 C to G in the DNA of the gene with alteration of L to V at position 392. Parental studies were carried out and Harley's mother, Katie, was identified as having 2 of those mutations in what would be termed cis position that is in the same gene on the same chromosome. Those are the 2 previously unidentified mutations with L392V and R1081 duplication. Cameron had the mutation previously identified in the literature at position C911 T to G, resulting in a L to R switch at position 304.
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