Kian
Kian

 
 
Signs & Symptoms
Prenatal Findings
- Born at 36 weeks, 3 days in NICU 4 days in Pediatrics. High respirations, Low Calcium, Low Magnesium, Low Blood Sugar, Jaundice
 
Build / Stature
- Large in size, at 12 months old he wore 2 T and bigger clothing, size 5 diapers, 30 lbs
 
Head
- Extremely large head circumference (began to even out at 12 month check up, but he fits in adult sized hats)
 
Face
- Fine hair on face, mainly on forehead area, moustache area, and sideburn area
 
Ears
- Slightly low set ears
 
Eyes
- Right eye drift (went away at 10 months)
- One odd grey spot in the white area of his left eye
- Eyes tend to become bloodshot (severely) without provocation. This started at approximately 8-9 months
- Very large eyes (but mom has them too)
 
Teeth
- Large gap between his two front teeth
- Teeth had 2 discolored marks, brown stripes, which are now starting to go away 
 
Skin
- 3 odd light marks (lighter than regular skin pigment) on his back. The smallest one continues to get lighter and lighter (almost white now)
- identical rug-burn like (looked like scabs but were NOT) markings on both knees, about 1 inch long. Appeared at 2 months of age, disappeared at 10 months of age with no assistance
 
Lower Limb
- Somewhat flatter-than-normal feet
 
Respitory System
- Asthma
- Breathing issues (nothing structurally wrong, not asthma like, not allergen related, but he has high respirations and struggles to breathe even though his pulse ox level is at 100 %
- Laryngomalacia (went away by 11 months of age)
- Micro-aspirates on thin liquids, only able to drink thickened things. Fine with all foods
 
Alimentary Tract
- Acid Reflux
 
Immune System
- Allergies (Dog, Cat, Mold, Dust Mite)
 
Neurological Structural
- Benign External Hydrocephalus (extra fluid on the outside of the brain)
 
Neurological Functional
 
- Seizures (semi-controlled by medications). Have happened stemming from the left side AND right side, and he has had every type except Grand Mall
- Hypotonia (possibly causing breathing issues due to lack of muscle tone in his chest/airway systems??)
 
Development
- Developmental Delays (cannot sit unassisted, cannot crawl, but CAN roll around)- Non-Ambulatory (at this point)
- Slow but steady development, has not regressed
 
Feeding
- Eats every food placed in front of him, even if he seems to not like it at first
 
Personality
- Generally happy demeanor, will smile and laugh for no apparent reason
- Hyperactive looking movements, Flails arms and legs with no apparent reason WHY
 
Misc
- Mouthing behaviors (raspberries, frequent drooling, biting, etc.)
 
Laboratory Test and Findings
NORMAL TESTS
- First 2 EEG's (one 30 minute, one 3 day)
- Blood Sugar
- 5-6 CT Scans
- Approximately 4-5 Chest X-Rays
- Sinus X-Ray
- PH Probe
- Apnea Sleep Study
- Angelman's Syndrome Testing
- Tubor Sclerosis
- Other Chromosomal Testing (the one where they put 2 different colored sets of the same chromosomes together to look for abnormalities.)
ABNORMAL TESTS
- Most recent EEG (30 minutes, showed signs of a Left Sided seizure)
- MRI showed slower than normal growth of the frontal lobe and some thickened parts of the cortex, but nothing major. Taken at 4 months
- X Chromosome
 
TESTS PENDING
- MRS (Creatine)

Contact: Courtney mom to Kian at CourtneyRemy@msn.com

Kian's Page: http://www.caringbridge.org/visit/kianremy 

Any troubles with e-mails send to swanusa@undiagnosed-usa.org