Baldwinsville, Ny
USA

315-802-8202

THE PURPOSE OF MY BLOG IS TO FIND OTHERS OUT THERE SIMILAR TO OUR DAUGHTER'S CONDITION.  TO HAVE OUR STORY BE HEARD AND SPREAD AROUND. TO GET GUIDANCE, MEET NEW PEOPLE, A VIRTUAL COMMUNITY OF HOPE! WE'RE HOLDING ON TO THE POSSIBILITIES! LET YOUR VOICES BE HEARD. EVEN IF IT'S JUST A HELLO 

A Mother's Journey~Ezra Monet

Update on Hannah's DX

Christina Manning

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)

  

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