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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
Any
troubles with e-mails send to
swanusa@undiagnosed-usa.org
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