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.
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.
ReplyDeleteSure is Tim. Sure is. :D
ReplyDeleteI had to wear those awful braces myself.
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!
ReplyDeleteWhen did she sit independently??
ReplyDeleteDid she have difficulty with speech development?
ReplyDelete