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Today is PCDH19 Female Epilepsy Awareness Day

November 9, 2014

Today, November 9th is PCDH19 Female Epilepsy Awareness Day. The PCDH19 Alliance wants to encourage supporters to wear purple and if possible a ladybug pin. Talk about PCDH19 Epilepsy and Epilepsy in general at your local school or workplace. Bring purple cupcakes or treats to work or school to share and raise awareness. Share the PCDH19 Ladybug Logo. 

Learn more about the Alliance and what YOU can do to help bring awareness to your community through their site here!

The Alliance

The PCDH19 Alliance was started by three parents of girls affected by PCDH19 Related Epilepsy in an effort to support ongoing research into this debilitating disorder. The PCDH19 Alliance is 100% volunteer run.Our mission is to improve the lives of children and families who are affected by PCDH19 Related Epilepsy. The Alliance focuses on raising and directing funds to scientific research with the goal of finding better, more effective treatments and, ultimately, a cure; providing information and support to affected families; and assisting the efforts of the medical community, so that no family suffers without a diagnosis and the most appropriate medical treatment.

What Is PCDH19 Female Epilepsy?

PCDH19 Female Epilepsy is a condition with a wide spectrum of severity in seizures, cognitive delays and other symptoms, which are all caused by a mutation of the PCDH19 gene on the x chromosome.  Males with the mutation, who will be largely unaffected, will pass the mutation onto 100% of their daughters and none of their sons.  Women with the mutation have a 50% chance of passing it to their daughters and will pass it to 50% of their sons.  Recently, scientists have discovered some unaffected females and are studying to learn what is protecting them from the disorder. Mosaic males are also affected.

Incidence?

 It now suspected that 1 in 10 girls that begins having seizures before the age of 5, may have PCDH19 Epilepsy.

What Are The Symptoms Associated With PCDH19 Female Epilepsy?

Seizure Clusters – The most consistent feature of this condition is seizures that come in clusters and last for days or weeks at a time and do not respond well to available medications.

  • The first seizures usually occur between 3 months and 3 years of age with an average of 9 months.
  • At first, the seizures usually occur in the setting of a fever, and later they come with no known trigger.
  • Sometime loss of hearing, and loss of skills are experienced after seizure clusters
  • Seizures are often drug resistant and difficult to control

Seizure Types – The most common seizure types for PCDH19 Female Epilepsy.

  • Generalized tonic-clonic,
  • Tonic, clonic, 
  • Complex partial, 
  • Atypical absence, 
  • Atonic drop, 
  • Myoclonic seizures.  
  • These seizure types may be accompanied by rapid oxygen desaturations and cyanosis.

Psychiatric – Autism spectrum disorder or autistic features (estimated at 60%), behavioral problems, Agression,  ADD, ADHD, anxiety, and obsessions (OCD).
In adolescents and adults, depression, bipolar, schizophrenia, psychosis and other mental illness have been reported. 

Cognitive/Intellectual – It is estimated that about 70% of PCDH19 patients have intellectual disability of varying degrees, ranging from mild to severe.
The course of development usually follows one of three paths:

  • Normal development from infancy, but with regression after seizure
    onset;
  • Normal development and intellectual ability from
    birth without regression;
  • Delayed from birth and remains delayed through
    adulthood.

Other PCDH19 Symptoms that can be present

  • Sleep disturbances, trouble falling and/or staying asleep
  • Ictal Apnea – Many individuals also stop breathing during their seizures and have rapid and sometimes prolonged oxygen desaturations.
  • Hypotonia
  • Fine and Gross motor deficits
  • Language delay or non-verbal
  • Sensory integration issues
  • Dysautonomia
  • Delayed tooth eruption seems common.
  • Issues with constipation (whether due to disorder or medications) are very common.


Personality
Anecdotally, the girls often have stubborn, determined independent personalities.  They seem to universally love water and swimming as well as music.  The are impish and have a sense of humor.  They are very affectionate, and often do not develop stranger anxiety.

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