Tag Archives: misdiagnosed

Rye’s Syndrome Awareness

Reye’s Syndrome, a deadly disease, strikes swiftly and can attack any child, teen, or adult without warning. All body organs are affected with the liver and brain suffering most seriously. While the cause and cure remain unknown, research has established a link between Reye’s Syndrome and the use of aspirin and other salicylate containing medications, over the counter products, and topical use products.

Reye’s Syndrome is a two-phase illness because it is almost always associated with a previous viral infection such as influenza (flu), cold, or chicken pox. Scientists do know that Reye’s Syndrome is not contagious and the cause is unknown. Reye’s Syndrome is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, Sudden Infant Death Syndrome, or psychiatric illness.

Reye’s Syndrome tends to appear with greatest frequency during January, February, and March when influenza is most common. Cases are reported in every month of the year. An epidemic of flu or chicken pox is commonly followed by an increase in the number of cases of Reye’s Syndrome.

When Reye’s Syndrome develops, it typically occurs when a person is beginning to recover from a viral illness.

Abnormal accumulations of fat begin to develop in the liver and other organs of the body, along with a severe increase of pressure in the brain. Unless diagnosed and treated successfully, death is common, often within a few days, and even a few hours. A person’s life depends upon early diagnosis. Statistics indicate an excellent chance of recovery when Reye’s Syndrome is diagnosed and treated in its earliest stages. The later the diagnosis and treatment, the more severely reduced are the chances for successful recovery and survival.

Rye’s Syndrome Awareness

Rye's Syndrome Awareness

Reye’s Syndrome, a deadly disease, strikes swiftly and can attack any child, teen, or adult without warning. All body organs are affected with the liver and brain suffering most seriously. While the cause and cure remain unknown, research has established a link between Reye’s Syndrome and the use of aspirin and other salicylate containing medications, over the counter products, and topical use products.

Reye’s Syndrome is a two-phase illness because it is almost always associated with a previous viral infection such as influenza (flu), cold, or chicken pox. Scientists do know that Reye’s Syndrome is not contagious and the cause is unknown. Reye’s Syndrome is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, Sudden Infant Death Syndrome, or psychiatric illness.

Reye’s Syndrome tends to appear with greatest frequency during January, February, and March when influenza is most common. Cases are reported in every month of the year. An epidemic of flu or chicken pox is commonly followed by an increase in the number of cases of Reye’s Syndrome.

When Reye’s Syndrome develops, it typically occurs when a person is beginning to recover from a viral illness.

Abnormal accumulations of fat begin to develop in the liver and other organs of the body, along with a severe increase of pressure in the brain. Unless diagnosed and treated successfully, death is common, often within a few days, and even a few hours. A person’s life depends upon early diagnosis. Statistics indicate an excellent chance of recovery when Reye’s Syndrome is diagnosed and treated in its earliest stages. The later the diagnosis and treatment, the more severely reduced are the chances for successful recovery and survival.

Angelman syndrome

Understanding AS
Angelman syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy, autism or Prader-Willi syndrome. Due to these similarities, misdiagnosis is a prevalent problem.

Late or misdiagnosis may cause individuals to lose opportunities for early intervention programs, resources, personalized support and life-saving treatments.

That’s why it’s important to increase awareness and understanding of Angelman syndrome, a disorder that occurs in roughly 1 in 15,000 live births.

Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

The Angelman Syndrome Foundation website is the best place to keep abreast of current information regarding research, education, general information and therapies for Angelman syndrome. If you have any questions or would like additional information please email the ASF at info@angelman.org.

Diagnosis
50% of individuals with Angelman syndrome are originally misdiagnosed.

A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly.

For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis.

Proper diagnosis is key to providing the best treatment to individuals with neurogenetic disorders – disorders that share similar symptoms including developmental delays, seizures, motor issues, and lack of cooing, babbling, or speech.

Symptoms of Angelman syndrome:

  • Developmental delays – vary from individual to individual
  • Seizures
  • A happy demeanor – frequent laughing, smiling and excitability
  • In infants 0-24 months:
    • Lack of cooing or babbling
    • Inability to support one’s head, pull oneself up to stand, and delayed motor skills
  • In young children:
    • Lack of speech, although some develop the ability to speak a few words
    • Delayed ability to walk, unstable gait or balance issues

 

Facts About Angelman Syndrome
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