Abram's Symptoms of "UBE2A Deficiency Syndrome"
Updated July 2017
OFFICIAL DIAGNOSIS IS:
UBE2A Deficiency Syndrome
Abram's was a sequence change where the "A" was a "G" so his gene was misspelled. Specifically his change is "c.67G>A, in exon 2 that results in an amino acid change, p.Gly23Arg. This particular amino acid change has been described in a large family with x-linked intellectual disability, speech anomalies, dysmorphic features, seizures and short statures that included several family members and was found to be segregate with the phenotype" (Abram's diagnosis was finally found by doing an "Intellectual Disability Panel" that focused on 169 different genes known to cause an Intellectual Disability. This test was run after they found a micro-deletion of Chromosome 7 (thought to be benign) and negative test results for Noonan Syndrome, William Syndrome and Fragile X.)
MEDICAL ISSUES THAT SHOULD BE NOTED FROM BIRTH:
CURRENT LIST OF DIAGNOSES (July 2017)
Other Issues of Note:
OFFICIAL DIAGNOSIS IS:
UBE2A Deficiency Syndrome
Abram's was a sequence change where the "A" was a "G" so his gene was misspelled. Specifically his change is "c.67G>A, in exon 2 that results in an amino acid change, p.Gly23Arg. This particular amino acid change has been described in a large family with x-linked intellectual disability, speech anomalies, dysmorphic features, seizures and short statures that included several family members and was found to be segregate with the phenotype" (Abram's diagnosis was finally found by doing an "Intellectual Disability Panel" that focused on 169 different genes known to cause an Intellectual Disability. This test was run after they found a micro-deletion of Chromosome 7 (thought to be benign) and negative test results for Noonan Syndrome, William Syndrome and Fragile X.)
MEDICAL ISSUES THAT SHOULD BE NOTED FROM BIRTH:
- Born via emergency C-section due to failure to progress/loss of heart rate, etc
- Desaturation of Color three times
- NICU stay of 7 days (an ENT had to come and do a nasal irrigation and suction him out as he had meconium aspiration and was filled with "copius amounts of mucus") and then his bilirubin went up to 19 and he was put under the lights
- His blood sugars were also up and down immediately after birth
- Issues with Acid Reflux - (was on medication for it as an infant)
- Labeled as "Colicky"
- Lactose Intolerance (now can tolerate some milk products)
- Swallow study showed "pooling" as he swallowed but no aspiration.
- Pin-point (tiny pupils) so doctors were concerned about Hydrocephalus
- Hours and sometimes days of non-stop whining/fussing/crying as if in pain (tylenol/ibuprofen would do nothing)
- Large soft spot that pulsates (Closed around the age of 3)
CURRENT LIST OF DIAGNOSES (July 2017)
- Suspected Autism Spectrum Disorder (2017) - being referred for further testing
- ADHD (2017)
- Self-Harming (2017)
- Hypotonia (2012)
- Mild Intellectual Disability (2014)
- Global Developmental Delay (2012)
- Renal Fusion (Fused horseshoe kidney) (working at 100% 60/40)
- Abnormal MRI: Cortical Dysplasia/Grey Matter Heterotopia & Pineal Cyst (2015)
- Abnormal Brain Scan - "Prominent Pineal Cyst which looks suspicious for a non-benign lesion with rough edges." Grown from 8.74 x 9.62 in 2013 to 11.2 x 11.3 in 2014 to 15mm in 2015
- Abnormal Genetic Test - Deletion of Chromosome Seven on just one copy. It is a 226kb deletion of 7q31.31 so rare that the clinical significance is unknown at this time.
- Epilepsy with Generalized Seizures (October of 2014)
- Hypertelorism
- Macroencephaly
- Slight Dysmorphia
- Retroganthia
- Macrocephaly
- Open Anterior Fontanelle (closed at the age of 3)
- Small Pupils Bilaterally
- Sleep Disturbances
- Transverse Palmar Crease on one hand
- Abnormal Involuntary Movement (this seems to fit into seizures)
- Esophageal Reflux (seemed to get better around age 2)
- Anemia
- Sensory Processing Disorder
Other Issues of Note:
- Self-harming issues
- Seizure-like episodes including: his head goes down, eyes go up and he is non-responsive, body is limp, head is limp and he is non-responsive, body is rigid and tight and he is non responsive, episodes of his eyes going crossed as if he's staring at his nose or cheeks and then they dart to the side and he shakes his head back and forth like he's literally trying to look into the back of his head
- Teeth Grinding
- Extremely fussy and Irritable as an infant
- Unable to bear weight on his legs/unable to stand until 17 months
- Foot Braces (SMOs - but will not tolerate them)
- Far Sighted (but currently not needing glasses)
- Depth Perception issues
- Large circumference Head
- Far set eyes
- His eyes look like they are crossing at times but the Opthamalogist says it is PseudoStrabismus
- Crawled at 14 months
- First Steps at 27 months (after 17 months of PT/OT)
- Sensory Processing Disorder
- Extremely noise sensitive - particularly to high pitched noises, screeches, other children's screams - making socializing for him difficult. He tends to have intense irritability around most other children and will cry/kick his feet into the ground
- Extremely temperature sensitive with food as well as with bath water, outside temps, inside temps, etc.
- Terrible sleep patterns since birth despite rigid schedules - fits of wakefulness and screaming. Waking every 90 minutes or so. Most nights he wakes up an average of 3-4 times
VIDEOS OF ABRAM'S SEIZURES AND OTHER ISSUES CAN BE FOUND ON YOUTUBE.