Abby

 
 
Abby was born full term, 1 day before her due date quite small, she was 5 pounds 10 ounces and 18 inches long.  I have 3 other children that were all 8 pound 21 inch babies that always stayed at that top of the growth charts throughout childhood.  We are certain of Abby's due date due to very early ultrasound.  Before being discharged from the hospital there were several problems. 1) a heart murmur that turned out to be a bicuspid aortic valve w/ mild stenosis. 2) Tachypnea  3) Hyponatremia and 4) feeding difficulties.  In fact, Abby needed an ng tube before leaving the hospital.  Abby's feeding issues weren't much easier after we got home from the hospital.  I've had 3 other children and never had a child just not want to eat.  Abby's feeding difficulties continue through present.  She now has a g-tube that was placed at 18 months of age.  It seems to have helped her weight gain quite a bit.  But, she is still v ery small.  At 2 weeks of age Abby had what appeared to be a seizure, it wasn't, and the cause of these spasms are still unknown.  Abby had colic from 6 weeks through 14 weeks, reason unknown.  And she just wasn't growing properly.  I worked closely w/ nutrition specialists and it appeared that Abby was getting enough to eat by the amount of wet and soiled diapers she was having.  At 8 months of age Abby was hospitalized for RSV and after that was plateauing on the growth charts.  At 12 months of age Abby was only 14 pounds, the size of my 3 other children at 3 months and was put on cyproheptadine to improve her appetite.  She is still on that now.  She has also had issues w/ chronic constipation and is still on Miralax to help w/ that.  Here is a list of all of her issues.

Signs & Symptoms

 
Build / Stature
- Delayed bone age (approx 1 yr delayed)
 
Head
- Large head for body (head is 49 cm)
- Frontal bossing as an infant
- Late closure of fontanel
 
Face
- Micrognathia
 
Ears
- Slightly low set ears w/ folds on top
- Chronic ear infections (tubes being placed 1-22-09)
Eyes
- Large widely spaced eyes
- Right eye extropia
- Dark eyebrows
 
Mouth
- High arched palate
 
Skin
- A couple of very little cafe au lait spots
- Winter eczema
Hair
- Sparse fine hair
 
Spine
- 2 sacral dimples
 
Upper Limb
- Underdeveloped shoulder joints that pop out of place
- Simian crease
 
Lower Limb
- Slight asymetry, left side is smaller.  Left leg is 1/4 inch shorter than right
- Small feet
- Pronated ankles and flat feet
- Incomplete syndactyly of 2nd and 3rd toes
 
Alimentary Tract
- Slow moving stomach
- Chronic constipation
 
Cardiac
- Bicuspid aortic valve
 
Neurological Functional
- Hypotonia
 
Development
- Lagging in fine and gross motor skills
- Receptive language is above average
- Delayed speech (possible oral apraxia)
 
Feeding
- Will only drink about 4-6 oz of fluids daily
- Poor appetite
 
Others
- Fasting hypoglycemia
- Chronically elevated lactic acid - usually in the 3's
- A few episodes of metabolic acidosis, including chronically low CO2
- Has shown ketones in urine w/ low glucose levels
- Elevated triglycerides - 425
 
Laboratory Test and Findings
- Basic chromosome testing - normal
- Chromosome microarray - normal 
- DNA fish test. - normal 
- Michigan Newborn Screen - twice, both normal
- Head CT scan - normal (this was done due to possible seizure as newborn, cause still unknown)
- 2 EEG's - normalEndomysial IGA AB - negative
- TTG IGA AB - normal
- Urine organic acid - normal
- Plasma amino acid - normal
- Free T4 - normal
- Magnesium - normal
- Prealbumin - normal
- Phosphorus - normal
- TSH - normal
- MUPD7 - normal
- 11p15 lack of methylation - normal
- Pyruvate - high normal (.13)
- Creatinine phosphokinase - normal (110)
- Lactic acid - chronically elevated
- Free Fatty Acids - normal
- Carnitine - normal
- IGFBP-3 - normal
- Renal ultrasound - normal
- Urine creatinine, sodium and calcium - normal
- Uric acid - normal
- Growth hormone - normal
- Liver biopsy - normal
- Skin biopsy to test for VLCADD - normal

Contact: Stacey mom to Abby at stacy.deitrich@comcast.net

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