Chips, Cheese and Sometimes Marshmallows

Life with 2q23.1 microdeletion syndrome (chromosome 2)

Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...

Asia's List of Symptoms (2q23.1)

Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:

At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly.

~This list may be edited with new information~
There are additional symptoms with this rare syndrome that Asia does not have.

Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.

Conact Info and Support Group

2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions at

Tuesday, March 26, 2013

Purple Day!

 March 26, 2013 is "Purple Day". A global event for epilepsy awareness.
Asia has suffered from seizures since she was two years old and there are many like her. People are affected all over the world with this for many different reasons. There is little known about the causes of seizures and how to treat them. Many of the treatments are trial and error and this usually takes a very long time. With Asia, it has been hard to get her seizures under control. We have tried a combination of medications and different dosages, she has had a good couple of months-it's been 5years:) Even once under control- Dr's still don't know the cause. More funding and research is needed to help people suffering from seizures.
 Asia has lost so much from her seizures-I was actually studying her face yesterday and you can see the scars on her nose, chin and above her eyebrow from where she has hit her face when falling from a seizure attack-not only are her "normal" daily activities interrupted, she is in physical danger and she loses memories as well. Here are a few stats from the epilepsy foundation.

Incidence -- Seizures:

  • 300,000 people have a first convulsion each year.
  • 120,000 of them are under the age of 18.
  • Between 75,000 and 100,000 of them are children under the age of 5 who have experienced a febrile (fever-caused) seizure.

Incidence -- Epilepsy:

  • 200,000 new cases of epilepsy are diagnosed each year.
  • Incidence is highest under the age of 2 and over 65.
  • 45,000 children under the age of 15 develop epilepsy each year.
  • Males are slightly more likely to develop epilepsy than females.
  • Incidence is greater in African American and socially disadvantaged populations.
  • Trends show decreased incidence in children; increased incidence in the elderly.
  • In 70 percent of new cases, no cause is apparent.
  • 50 percent of people with new cases of epilepsy will have generalized onset seizures.
  • Generalized seizures are more common in children under the age of 10; afterwards more than half of all new cases of epilepsy will have partial seizures.

Prevalence -- Epilepsy:

  • Prevalence of active epilepsy (history of the disorder plus a seizure or use of anti epileptic medicine within the past 5 years) is estimated as nearly 3 million in the United States.
  • Prevalence tends to increase with age.
  • 326,000 children through age 15 have epilepsy.
  • More than 300,000 persons over the age of 65 have epilepsy.
  • Higher among racial minorities than among Caucasians.
  • Cumulative incidence (risk of developing epilepsy):
  • By 20 years of age, one percent of the population can be expected to have developed epilepsy.
  • By 75 years of age, three percent of the population can be expected to have been diagnosed with epilepsy, and ten percent will have experienced some type of seizure.

Epilepsy risk in special populations:

The basic, underlying risk of developing epilepsy is about one percent. Individuals in certain populations are at higher risk. For example, it is estimated that epilepsy can be expected to develop in:
  • 25.8 percent of children with mental retardation
  • 13 percent of children with cerebral palsy
  • 50 percent of children with both disabilities
  • 10 percent of Alzheimer patients
  • 22 percent of stroke patients
  • 8.7 percent of children of mothers with epilepsy
  • 2.4 percent of children of fathers with epilepsy
  • 33 percent of people who have had a single, unprovoked seizure


Safety kit
First Aid for Seizures
First aid for seizures involves responding in ways that can keep the person safe until the seizure stops by itself. Here are a few things you can do to help someone who is having a generalized tonic-clonic (grand mal) seizure:
  • Keep calm and reassure other people who may be nearby.
  • Prevent injury by clearing the area around the person of anything hard or sharp.
  • Ease the person to the floor and put something soft and flat, like a folded jacket, under his head.
  • Remove eyeglasses and loosen ties or anything around the neck that may make breathing difficult.
  • Time the seizure with your watch. If the seizure continues for longer than five minutes without signs of slowing down or if a person has trouble breathing afterwards, appears to be injured, in pain, or recovery is unusual in some way, call 911.
  • Do not hold the person down or try to stop his movements.
  • Contrary to popular belief, it is not true that a person having a seizure can swallow his tongue. Do not put anything in the person’s mouth. Efforts to hold the tongue down can injure the teeth or jaw.
  • Turn the person gently onto one side. This will help keep the airway clear.
  • Don't attempt artificial respiration except in the unlikely event that a person does not start breathing again after the seizure has stopped.
  • Stay with the person until the seizure ends naturally and he is fully awake.
  • Do not offer the person water or food until fully alert
  • Be friendly and reassuring as consciousness returns.
  • Offer to call a taxi, friend or relative to help the person get home if he seems confused or unable to get home without help.
Here are a few things you can do to help someone who is having a seizure that appears as blank staring, loss of awareness, and/or involuntary blinking, chewing, or other facial movements.
  • Stay calm and speak reassuringly.
  • Guide him away from dangers.
  • Block access to hazards, but don’t restrain the person.
  • If he is agitated, stay a distance away, but close enough to protect him until full awareness has returned.

Consider a seizure an emergency and call 911 if any of the following occurs:

  • The seizure lasts longer than five minutes without signs of slowing down or if a person has trouble breathing afterwards, appears to be in pain or recovery is unusual in some way.
  • The person has another seizure soon after the first one.
  • The person cannot be awakened after the seizure activity has stopped.
  • The person became injured during the seizure.
  • The person becomes aggressive.
  • The seizure occurs in water.
  • The person has a health condition like diabetes or heart disease or is pregnant.

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