December 6, 2011

More than tremors

He was used to working with his hands; hands that were calloused by years of dedication to their trade. The work performed by those hands produced such quality that it attracted the attention of the military (for specialty contracted projects) and the respect of those who worked around him. He was good at what he did. For many years his hands had been the tool that provided for his family.

But now those hands were beginning to shake. 

My Uncle Paul (my father's brother) was officially diagnosed with Parkinson's disease in 2006. He wasn't surprised. His father had lived many years with the same diagnosis. The symptoms came on gradually but steadily.

First the shaking was slight enough that he could figure out ways to complete his specialty welding tasks. But over time the shaking grew too severe to accomplish the intricate projects assigned to him. He had no choice but to relinquish his welder and walk away from his job years earlier than planned.

He began to take medicine for Parkinson's. But something was off. He was feeling worse. Thinking it was because of dosage issues, my Uncle Paul took himself off of all medication and, interestingly, felt much better. This greatly puzzled his doctor who began to dig deeper for clues. 

Then came my son's diagnosis of Fragile X Syndrome in February 2011. As I began to investigate this syndrome that would forever change the course of my family, I uncovered facts concerning carriers. I read about a syndrome Fragile X carriers can have - Fragile X-associated tremor/ataxia syndrome (FXTAS). The symptoms matched my uncle's symptoms.

Fragile X–associated tremor/ataxia syndrome (FXTAS) is an “adult onset” neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe. FXTAS affects the neurologic system and progresses at varying rates in different individuals. (FXTAS.org) 

Symptoms in males (provided by FXTAS.org):

Both the type and severity of FXTAS symptoms vary among individuals. Some will have multiple symptoms that progress rapidly, others few symptoms that remain mild over many years. The most common symptoms in males are:
  • “Intention” or “action” tremor (trembling hands that occur when one reaches for something or is otherwise using one’s hands. The tremor is not as noticeable at rest).
  • Balance problems, called “ataxia,” which might result in occasional or frequent falls or the need for the person to hold on to a railing or cane.
  • “Parkinsonism,” which can include general shaking of body parts, muscle rigidity, a shuffling gait and slowed speech.
  • Cognitive/intellectual decline, including short-term memory loss, loss of math or spelling skills, difficulty making decisions, and other intellectual functions.
  • Numbness or burning of the hands and feet (neuropathy).
  • Low blood pressure (orthostatic hypotension).
  • Personality or mood changes, which might include increased irritability, outbursts of anger, and inappropriate or impulsive behavior not typical of or consistent with the person’s previous personality.
  • Difficulty with organizing, planning, anticipating, and carrying out of  everyday life tasks and activities (“executive function skills”).
  • Difficulty learning new tasks.
  • In advanced cases, loss of bowel or bladder control, impotence (autonomic dysfunction).
  • Specific findings on a brain MRI called “increased signal intensity in the middle cerebellar peduncles (MCP) sign”. These findings are evident to neuroradiologists (radiologists with additional expertise in neurological conditions).
  • Click here to see video of patient attempt at drawing a spiral; left and right hands.
  • Click here to see video showing balance and gait problems
Symptoms in Females (provided by FXTAS.org):

Females can experience the same neurological symptoms as males, but almost always with less severity. Most affected women have some degree of tremor and/or ataxia. While the psychiatric and mood disorders are also less frequent in females, they are at higher risk for anxiety and depression in general. Additional symptoms affecting some females include:
  • Fibromyalgia and/or generalized muscle pain
  • Thyroid disorders, usually hypothyroidism
  • Seizure disorders

I contacted my father who passed along the information. In March 2011 my uncle was tested for the Fragile X premutation and the results came back positive.


Uncle Paul is taking things in stride. He has always been an upbeat man, strong in his faith, and is handling this as well as anyone can. He continues to stay active by doing some small farming. He currently is on medication for a couple symptoms (restless leg syndrome and stiffness/arthritis) and has an appointment in March 2012 to re-evaluate medication options.

All photos in this post were provided by the family
For more information on Fragile X associated tremor/ataxia syndrome (FXTAS) please visit FXTAS.org.

For more information on Fragile X Premutation, please read the carrier {Fragile X Premutation}.

5 comments:

  1. Thanks for sharing your story. My father is experiencing some of this, age 63, and my hope is that he will get the right care for his condition. Local doctors don't know about FXTAS so I want him to go to a Fragile X clinic to get the right recommendations for his care.

    ReplyDelete
  2. My husband has had FXTAS since 1999, or even earlier. I care for him at home, and it's been quite a journey! He is still healthy other than his brain bing impaired, so he can't do much. Please contact me any time if you'd like. tcorcoran53@verizon.net.
    Terri

    ReplyDelete
  3. We lost my dad three weeks ago to FXTAS, after living with it for 28 years. My grandmother before him, and now two of his brothers. My sister and I live in fear of the day our hands begin to tremor, as we will know the cause. Hopeful for treatment solutions soon! Take care.

    ReplyDelete
    Replies
    1. my husband has been bed fast for two years. he knows everyone...other wise in good health ecept for total incontance. he has recently started apahia, spatiavision. we have two frigle x grand kids, so worried for our daughter. i am 24 hour care giver and cannot help her the way i would like to. sure hope help for families like comes soon. we have known since 2011.

      Delete
    2. my husband has been bed fast for two years. he knows everyone...other wise in good health ecept for total incontance. he has recently started apahia, spatiavision. we have two frigle x grand kids, so worried for our daughter. i am 24 hour care giver and cannot help her the way i would like to. sure hope help for families like comes soon. we have known since 2011.

      Delete

December 6, 2011

More than tremors

He was used to working with his hands; hands that were calloused by years of dedication to their trade. The work performed by those hands produced such quality that it attracted the attention of the military (for specialty contracted projects) and the respect of those who worked around him. He was good at what he did. For many years his hands had been the tool that provided for his family.

But now those hands were beginning to shake. 

My Uncle Paul (my father's brother) was officially diagnosed with Parkinson's disease in 2006. He wasn't surprised. His father had lived many years with the same diagnosis. The symptoms came on gradually but steadily.

First the shaking was slight enough that he could figure out ways to complete his specialty welding tasks. But over time the shaking grew too severe to accomplish the intricate projects assigned to him. He had no choice but to relinquish his welder and walk away from his job years earlier than planned.

He began to take medicine for Parkinson's. But something was off. He was feeling worse. Thinking it was because of dosage issues, my Uncle Paul took himself off of all medication and, interestingly, felt much better. This greatly puzzled his doctor who began to dig deeper for clues. 

Then came my son's diagnosis of Fragile X Syndrome in February 2011. As I began to investigate this syndrome that would forever change the course of my family, I uncovered facts concerning carriers. I read about a syndrome Fragile X carriers can have - Fragile X-associated tremor/ataxia syndrome (FXTAS). The symptoms matched my uncle's symptoms.

Fragile X–associated tremor/ataxia syndrome (FXTAS) is an “adult onset” neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe. FXTAS affects the neurologic system and progresses at varying rates in different individuals. (FXTAS.org) 

Symptoms in males (provided by FXTAS.org):

Both the type and severity of FXTAS symptoms vary among individuals. Some will have multiple symptoms that progress rapidly, others few symptoms that remain mild over many years. The most common symptoms in males are:
  • “Intention” or “action” tremor (trembling hands that occur when one reaches for something or is otherwise using one’s hands. The tremor is not as noticeable at rest).
  • Balance problems, called “ataxia,” which might result in occasional or frequent falls or the need for the person to hold on to a railing or cane.
  • “Parkinsonism,” which can include general shaking of body parts, muscle rigidity, a shuffling gait and slowed speech.
  • Cognitive/intellectual decline, including short-term memory loss, loss of math or spelling skills, difficulty making decisions, and other intellectual functions.
  • Numbness or burning of the hands and feet (neuropathy).
  • Low blood pressure (orthostatic hypotension).
  • Personality or mood changes, which might include increased irritability, outbursts of anger, and inappropriate or impulsive behavior not typical of or consistent with the person’s previous personality.
  • Difficulty with organizing, planning, anticipating, and carrying out of  everyday life tasks and activities (“executive function skills”).
  • Difficulty learning new tasks.
  • In advanced cases, loss of bowel or bladder control, impotence (autonomic dysfunction).
  • Specific findings on a brain MRI called “increased signal intensity in the middle cerebellar peduncles (MCP) sign”. These findings are evident to neuroradiologists (radiologists with additional expertise in neurological conditions).
  • Click here to see video of patient attempt at drawing a spiral; left and right hands.
  • Click here to see video showing balance and gait problems
Symptoms in Females (provided by FXTAS.org):

Females can experience the same neurological symptoms as males, but almost always with less severity. Most affected women have some degree of tremor and/or ataxia. While the psychiatric and mood disorders are also less frequent in females, they are at higher risk for anxiety and depression in general. Additional symptoms affecting some females include:
  • Fibromyalgia and/or generalized muscle pain
  • Thyroid disorders, usually hypothyroidism
  • Seizure disorders

I contacted my father who passed along the information. In March 2011 my uncle was tested for the Fragile X premutation and the results came back positive.


Uncle Paul is taking things in stride. He has always been an upbeat man, strong in his faith, and is handling this as well as anyone can. He continues to stay active by doing some small farming. He currently is on medication for a couple symptoms (restless leg syndrome and stiffness/arthritis) and has an appointment in March 2012 to re-evaluate medication options.

All photos in this post were provided by the family
For more information on Fragile X associated tremor/ataxia syndrome (FXTAS) please visit FXTAS.org.

For more information on Fragile X Premutation, please read the carrier {Fragile X Premutation}.


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5 comments:

  1. Thanks for sharing your story. My father is experiencing some of this, age 63, and my hope is that he will get the right care for his condition. Local doctors don't know about FXTAS so I want him to go to a Fragile X clinic to get the right recommendations for his care.

    ReplyDelete
  2. My husband has had FXTAS since 1999, or even earlier. I care for him at home, and it's been quite a journey! He is still healthy other than his brain bing impaired, so he can't do much. Please contact me any time if you'd like. tcorcoran53@verizon.net.
    Terri

    ReplyDelete
  3. We lost my dad three weeks ago to FXTAS, after living with it for 28 years. My grandmother before him, and now two of his brothers. My sister and I live in fear of the day our hands begin to tremor, as we will know the cause. Hopeful for treatment solutions soon! Take care.

    ReplyDelete
    Replies
    1. my husband has been bed fast for two years. he knows everyone...other wise in good health ecept for total incontance. he has recently started apahia, spatiavision. we have two frigle x grand kids, so worried for our daughter. i am 24 hour care giver and cannot help her the way i would like to. sure hope help for families like comes soon. we have known since 2011.

      Delete
    2. my husband has been bed fast for two years. he knows everyone...other wise in good health ecept for total incontance. he has recently started apahia, spatiavision. we have two frigle x grand kids, so worried for our daughter. i am 24 hour care giver and cannot help her the way i would like to. sure hope help for families like comes soon. we have known since 2011.

      Delete