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, February 5, 2013

Therapy Horse Riding

There really isn't a lot of extracurricular activities out there for kids with special needs. Here is one thing that I have found and I have always wanted to get Asia into-is a horse riding therapy program. Her older sister rides a horse and every time she sees her, a picture or a horse she says "on". She gets in the saddle, relaxes and just rides. She of course is being pulled around and someone is by her side but, she calms right down. After awhile she may say "done" but she has loved it. This may be very therapeutic. It could help with strengthening her muscles, motor skills, communication, concentration and other areas of need. As noted below by Hoofbeats, Asia never crawled and her disorder can show traits of someone with Autism-areas that riding has been shown to help with. Riding therapy would be great. This spring I will look into it again. I have found a couple of programs within my area (Utah county) but it would still be a drive. Her sisters horse is now in Northern Utah county so maybe I will check these ones out and possibly be scheduled at the same time?? Check out both of these sites-they list some great reasons for riding therapy.

Courage Reins

Hoof Beats

There really is something to this type of therapy-The following was taken off of the Hoof Beats site.

Hoofbeats to Healing is dedicated to providing therapeutic horse back riding in Utah. Using an effective natural approach to therapeutic horse back riding via Missouri Fox Trotter horses. Based on the theory of Cross hemispheric integration. Which is if a child didn't crawl correctly their brain may not be mapped correctly.
Effective with disabilities including, but not limited to;
  • RAD ( Reactive Attachment Disorder )
  • Visual Impairment - Learning Disabilities - Cerebral Palsy -
  • Spina Bifida - Developmental Disabilities - Autism
  • Head Trauma - ADD/ADHD - Stroke/Heart Attack Patients -
  • Spinal Cord Injuries - Emotional Disabilities - Multiple Sclerosis
  • Hearing Impairment -and more.

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