vd & sms

 It is Vetran’s day and by golly it makes me grumpy. I don’t want everyones false sincerity, or to simply like a facebook post about today, or to tell me they get it because their dead grandpa’s cousins neighbor served. If you are the spouse/parent/child we’ll talk. If not thank you for your kindness today, and I would apperciate it tomorrow and the day after that, and the day after that. 

That said, I took Samara to the genetics today, and maybe she has a disorder, and it almost all fits in. I am reading and it all clicks in place, except for a few minor things with her appearance. I have never read anything and boom, it made sense so perfectly. Pray my insruance company covers this testing. They can be fickle on things, but pray they will. 

I am copy and pasting this, and then bold-ing the symptoms that fit. 

It is called Smith-Magenis syndrome

Major Physical Features (> 75% of affected individuals)

• Characteristic facial appearance; flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults; dark eyebrows that meet in midline (synophrys). (Note: these facial characteristics can be subtle.)
• Low muscle tone (hypotonia)
•  
• Middle ear problems (chronic ear infections) and laryngeal anomalies
• Hoarse voice, hypernasal speech
• Short fingers and toes
• Hyporeflexia
• Signs of peripheral neuropathy
• Markedly flat feet
• Distinct, broad-based gait (walking pattern)
• Decreased sensitivity to pain

Major Developmental & Behavioral Features* (> 75% of affected individuals)

• Developmental delay
• Variable levels of intellectual disability (mild – moderate)
• Generalized complacency/lethargy (infancy)
• Mouthing objects or hands that persists beyond early childhood
• Speech delay and articulation problems
• Sensory integration issues
• Teeth grinding
• Delayed toileting skills (delayed potty training and/or persistence of nighttime bedwetting (enuresis) for age)
• Maladaptive behaviors such as: hyperactivity, impulsivity, attention seeking (especially from adults); easy excitability or distractibility; sudden mood shifts; explosive outbursts; prolonged tantrums; and aggressive or destructive behavior
• Sleep disturbance (chronic)
  • Frequent nighttime awakenings
  • Increased daytime sleepiness/naps
  • Early morning awake times (5:30 a.m. – 6:30 a.m.)
• Inverted circadian rhythm of melatonin
• Stereotypic/repetitive behaviors such as arm hugging/hand squeezing when excited, “lick and flip” behavior (i.e., quick flipping pages of books/magazines with/without licking finger)
• Self-injurious behaviors: head banging, hand biting, picking at skin, sores and nails, pulling off finger- and toenails (older ages), inserting foreign object into ears, nose or other body orifices.
• Positive behavioral features
  • Endearing/appealing personalities
  • Excellent long term memory for names, places, events
  • Great sense of humor

Common Features (50% – 75% of affected individuals)

• Hearing impairment (conductive with/without sensorineural hearing loss)
• Short stature (especially in early childhood)
• Scoliosis (curvature of the spine)
• Eye problems, including strabismus (an eye that turns in or out), myopia (nearsightedness), small cornea (microcornea) and/or iris anomalies
• History of constipation
• Hypercholesterolemia/hypertriglyceridemia
• Abnormal EEG without seizures

Characteristic During Infancy

• “Cherubic” facial appearance (rosy cheeked- appearance)
• Happy disposition
• <span style="color: rgb(0, 0

, 0);”>Infrequent crying and diminished vocalizations for age

Low muscle tone (hypotonia) persisting into childhood

Feeding problems (poor suck/swallow, transitioning from pureed to textured foods)

Delayed gross motor and fine motor skills

Less Common Features (25% – 50% of affected individuals)

• Congenital heart defects / murmurs
• Lowered immune function
• Seizures
• Thyroid function adnormalities

Occasional Features (<25% of affected individuals)

• Renal/urinary trace abnormalities
• Forearm abnormalities
• Cleft lip/palate ( not cleft, but abornmal)                                                                                                         
• Retinal detachment

I don’t know, it is rare, but she is related to my mother, so nothing surprises me. I suppose we jus wait now and find out. 

If she does hve it, it will only be justifiction for things like medicaid and keeping her out of school. 

So with that, enjoy your day. I love all my military families… and t-o the rest of you. I have love for you too,