About Ellie

On April 22, 2011 we received a huge blessing to our family. Elizabeth Mabel, “Ellie,” for short, had finally arrived. From day one, she has been the sweetest baby who's soul will fill your heart with overwhelming love. With this gift has come extraordinary challenges that leave her family and doctors with several unanswered questions about her health and prognosis. 

At 5 years of age, here is a synopsis of Ellie's medical chart

Clinical Findings:

Failure to Thrive
Global Developemental Delays
Complex Developmental Brain Disorder
Heart Defect -Patent Ductus Arteriosus
Delayed Mylenation
Microcephaly
Extreme Short Stature
Dysmorphic Features
Hypotonia
Osteopenia-Delayed Bone Age
GI Issues
High Cholesterol/Triglycerides
Corticol Visual Impairment
Farsighted/Esotropia
Sensory Processing Disorder 

Tests:

Karyotype / Chromosome analysis - Normal
Gene Sequencing (single) - Normal
DNA Microarray - Normal
SNP array on DNA from tissue samples - waiting for results
Whole Exome Sequencing - Negative results
MRI - Normal with Delayed Mylenation, Thin Corpus Collosum

Rett Syndrome -Negative
Prader-Willi Syndrome - Negative
Cohen Syndrome - Negative 

Other Tests:
Metabolic Screen, Amino Acid Blood, Pyruvic Acid, Lactate, Ammonia, Organic Acids, ect
EEG
Full Skeletal Survery
Abdominal Ultrasound
Barium Enema Study

Here is the story of how it all began....