Monday, January 9, 2012

Spinocerebellar Ataxia

Spinocerebellar Ataxia (degeneration)- SCA is a progressive neuro degenerative disease that are many types and each type is a disease in itself. SCA can happen to anyone at any age, the earlier the age of onset – the more rapidly the disease will progress. It is much like Huntington’s Disease and is often inherited. A part of the brain known as the cerebellum (the little brain) is shrinking (in atrophy) which is what is the main feature of this disease.

Ataxic gait, the child will fall often and not be able to move her arms to catch herself becoming seriously injured. Speech impairment – the child will have slurred speech and a stutter, sometimes they won’t use the right words and even have times where they’re not able to speak at all. There is usually deformity of the spine – a child can look like they have a hunch back. Spasms, movement disorders like dystonia and chorea and myoclonic seizures are very common. Also autonomic dysfunction – including marbling of the skin – dysautonomia – low blood pressure. There can be paralysis below the waist with the muscles of the thighs and calves temporarily paralyzed. As time passes, the disease will progress, the child will not be able to walk, talk, write, will be confined to a bed and breathing will become very difficult. A child cannot survive this disease as the cerebellar and spine degenerate (shrink.)

Treatment and Diagnosis
There is no known treatment– supportive care is all that is offered. . Diagnosis is very difficult as it can mimic many other diseases. Most often it’s mistaken as MS. Because a child can have intractable epilepsy, it can often be mistaken for a seizure syndrome. Sometimes it can take years to get diagnosed. Diagnosis usually is not made until the disease starts to progress and an MRI is done showing atrophy (shrinkage) of the cerebellar and spinal cord. There are 29 known types of SCAs that can be genetically tested for. Sadly, the largest group of people with this disease, genetic testing holds no answers. Diagnosis is often made from the MRI results and the clinical presentation of the disease.

The National Ataxia Foundation

Amy's Story
My daughter Amy had a diagnosis of autism with seizures at an early age. She was considered high functioning autist. She was verbal and potty trained by age 3 and at age 5 she was in a normal classroom and doing well in school with an IQ of 96. Amy passed the state standardized testing for 1st grade and was mainstreamed.

At age 7 years and 9 months we noticed that she seemed to be struggling and the school system repeated her testing and found her IQ was 86, the neurologist did another VEEG and determine Amy had Lennox Gastaut syndrome, a rare intractable seizure syndrome. Within the year Amy would be struggling to speak clearly, her words often stuttered. She’d fall all the time, the neurologist said it was akinetic seizures. Then her rectum prolapsed, she was found to have dysmotility of the intestines and GERD and malnourished, a g-tube was placed. Within a year we’d also have the Vegus nerve stimulator implanted to help control the seizures, but the falls were often. We also noticed her walk was changing, she was hunched over like a hunchback and her feet stomped. She couldn’t handle the stairs in our home any longer and often when standing up, she passes out. Then we noticed her eyes darting all the time, she couldn’t hold them still, nastagmus – and it was getting worse. She had developed movement disorders like dystonia which was crippling her and chorea, daily these massive jerks that come out of nowhere and some could knock her down while others paralyzed her.

All of Amy’s MRIs in the past had been normal so the neurologist could not explain what was happening to our child. We went to a major university hospital and they did an MRI and it showed atrophy of the cerebellum – a part of the brain known as the little brain. The testing for SCA began. That summer Amy had a seizure that lasted for hours, her body was then stuck in dystonic posturing for days, her vision was affected, it was devastating and a fight for her life with long term care in the hospital began.

That’s also when the psychiatric problems began, mania being a major problem and a devastating part of this disease. On Sept. 28, 2011 the team of doctors at Baylor College of Medicine diagnosed Amy with an unknown at that time SCA neuro-degenerative disease and a rare seizure syndrome. Amy’s IQ was found to be 54, she struggles to walk and to talk. She’s now in a special school where there is full time nurses on staff. She also is in physical therapy and speech therapy daily.

We know the disease will take our child in time, but we don’t dwell on that hard and painful reality. We focus on being a happy family every second we can and take many photos and videos. We also use those videos to chart the major changes happening in our little girl. We are her parents and can remember clearly watching her ride her bike with no problem, swim, jump rope and run to the mailbox. We remember her laughter and her being near normal doing what children are suppose to be doing. And to see this change, to watch her decline is heartbreaking. No parent should go through what we have! To be miss-diagnosed and we were many times! To be told it was status (unchanging) and Amy would hold her ground many times. To believe that this was going to be okay and told so by many doctors. Each doctor had a different diagnosis – from Alternating hemiplegia of childhood to a stroke to a seizure syndrome to it just being related to autism. It took a massive, major and devastating change in Amy’s MRI showing a major part of her brain was shrinking and her spinal cord before all the doctors would agree.

On Dec. 2nd the Neurologist here at our local university (which is accepting people with ataxia into a research study) assured us our daughter will not survive. That it’s a matter of time and we need to live in the present and make the most of our time. It was hard to hear. BUT we needed to hear that from another doctor after all the misdiagnosis. No parents should go through what we have been through. But sadly with SCAs, our story is not unique. We cling to our faith for a miracle. Also, my mother died when I was young of what the doctors believed was MS, she carried the diagnosis of MS for 10 years as she declined, much like my child is. I watched my mother’s speech become slurred, her stumble down the hall, bouncing off the walls, crawling and finally in a wheelchair then a bed and she died when I was too young to lose my mother. I have watched my daughter follow almost the exact same path these last two years and four months.

My older brother has been having trouble and he had an MRI showing spine and cerebellar degeneration. All the doctors now agree that what took my mother as a young woman is now taking my child. Spinocerebellar degeneration – and I had never even heard of this disease.

Contributed by MOM Christy Bac- mother of Amy Bac 10 years old (Amy's full story)

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