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
-Eosinophilic Esophagitis (EOE) Rare Disease NIH
-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
-ASD - Atrial Septal Defect
-Hemoglobin C Disease Trait
-Scoliosis with Kyphosis
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
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.
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)