Update on Hannah's DX

I thought I would make a full list of all Hannah's diagnosis and challenges :

-SCAR9 Spinocerebellar ataxia, autosomal recessive 9 - defects on ADCK3 OR CABC1 on chromosome 1q42.2

 -She has two mutations in her ADCK3 gene: p.Y607* (c.1821C>A) and p.T445K (c.1334C>A)

 -Gastroparesis (complete paralysis in her stomach) 

 - GJ- Peg Tube permanently nothing by mouth but small amounts of water throughout the day.

Pediasure Peptide 1.0 at a rate of 50 continously 24/7 via pump by J-Tube

-Autism (high functioning)

-Sensory Integration Dysfunction Disorder

-Low muscle tone

-Receives Occupational Therapy, Speech Therapy, Physical Therapy, and Adaptive Physical Education

-Requires a 1-1 teacher at all times during school, is in a 8-1-1 class room for children with Autism and behavioral difficulties

-Intellectual disability

-Eosinophilic Esophagitis (EOE) Rare Disease NIH

-anxiety

-Chronic constipation

-Short stature, growth retardation her height

is 4'5 legally anything under 4'12 is

considered dwarfism without the gene.

- She has stumpy hands, feet, limbs, and torso

her shoes are still a size 3 in kids technically                                                  she's in preschool shoes lol 3.5 is school age

-Acanthosis Nigricans (and isn't diabetic) 

-Prominent Fetal Finger Pads (which is rare)

-Infantile Cerebral Palsy

-Heart Murmur

-ASD - Atrial Septal Defect

-Hemoglobin C Disease Trait

-Scoliosis with Kyphosis 

-Ataxia

-muscle weakness

-mitochondrial disorder

XR SPINE-ENTIRE THORACIC AND LUMBAR

There is a levoconvex scoliosis of the thoracolumbar spine

measuring approximately 7 degrees.

There is mild-to-moderate narrowing of the medial compartment of

the knee and a rather comparatively diastatic appearance of the

lateral compartment with a somewhat diminutive lateral femoral condyle, possibly a congenital variation.

Soft tissues appear prominent about the ankle, particularly

 SPINE THOR-LUM-STANDING

INDICATION: Scoliosis.

FINDINGS: There are 12 rib-bearing thoracic vertebral bodies and 5

ribless lumbar type vertebral bodies.

There is a 11 degree thoracic levoscoliotic curvature measured from

T6-12. Rotatory grade 2.

There are no vertebral body segmentation anomalies.

There is 12 mm right superior pelvic tilt. There is 8 mm positive

coronal imbalance. Thoracic kyphosis of 41 degrees. Lumbar lordosis

and 32 degrees. 13 mm positive sagittal imbalance. 

IMPRESSION:

Scoliotic curvature and additional findings as above.

MRI SPINE CERVICAL

FINDINGS: The alignment is anatomical. A mild amount of central disc protrusion

is seen at the C5-C6 level and C6-C7 level.

Blood Type - AB POS (RARE)