Thursday, June 4, 2009

Her List of Symptoms

I am sure that there are other Moms (and Dads) out there whose kid has RS. Maybe they know it and maybe they don't. I thought it would be helpful to create a list of everything that seems notable for Abs so someone searching will have a basis of comparison.

Misc. Characteristics:
- Is a twin
- Was a triplet but Baby C was lost in utero
- Ventriculomegaly and Aqueductal Stenosis was found via ultrasound at 17 weeks gestation
- RS was missed on first MRI (only 1.5 tesla)
- RS diagnosed at 23 months when neurogeneticist ran 3 tesla MRI
- Terrible sleeper. Trouble falling and stay asleep. Needs a lot of time to unwind before sleep.
- Hearty appetite (despite being so tiny).

Physical Characteristics:
- Small Stature
- Failure to Thrive
- Less than 2nd percentile for weight and height
- Enlarged Head
- Protruding Forehead / Plagiocephaly
- Small lower body
- Poor muscle tone
- Enlarged Rib Cage
- Feet turn slightly inward
- Thin hair
- Thin nails
- Very small feet for her body size
- Head in 90th percentile

Neuro Findings:
- Enlarged 3rd and 4th ventricles
- Fused Cerebellum
- Rhombencephalosynapsis
- Plagiocephaly
- Hydrocephalus / Increased fluid in frontal lobe
- Posterior Corpus Callosum Hypoplasia/Dysplasia

Medical Characteristics:
- Allergic to milk & eggs
- Strabismus requiring double eye muscle surgery
- Esotropia
- Asthma
- Seasonal Allergies
- RSV at 9 months

Fine Motor Characteristics:
- In OT since 20 months
- Flapping and twisting of hands
- Twisting of feet
- HypoReactive Sensory Intergration Disorder
- Oral Motor Sensory needs
- Requires a great deal of sensory input

Gross Motor Characteristics:
- In PT since 4 months old
- Severely delayed milestones (rolled at 10 months, crawled at 14 months, stood at 18 months, walked at 20 months)
- Ataxia
- Hypotonia
- Balance issues
- Poor Muscle Tone
- Poor Balance
- Walks with an unusual gate
- Has not mastered kicking, steps, throwing while standing at 2 years of age

Speech Characteristics:
- On target for her age with speech
- Requires no ST
- Has wide array of language

Personality Characteristics:
- Easygoing
- Playful
- VERY silly
- Can be temperamental
- Very stubborn
- Loves quiet activities like watching TV or coloring.
- Tends to observe activity before she joins in

I may add to this list as things come to mind.


  1. My feet were turned in as a kid too, I had to wear braces. And those personality characteristics are pretty much spot on for me...scary.

  2. Sure is Tim. Sure is. :D

    I had to wear those awful braces myself.

  3. Please join our Facebook page "Cerebello-Trigeminal-Dermal Dysplasia aka Gomez-Lopez-Hernandez Syndrome". The main characteristic of GLHS is rhombencephalosynapsis. We would love to have you join us so we can share stories!