Ian's Story

Medical and Developmental History
Ian was the result of a twin pregnancy that was complicated by pre-term labor beginning at 25 weeks.  Ian's mother reported that she took Terbutaline to halt the symptoms but still required bed rest at 29 weeks gestation.  Ian and his twin sister were born at 34 weeks and 5 days' gestation and Ian was anoxic; which is a total decrease in level of oxygen at birth.   He required ventilator support for several days.  Ian has been diagnosed with microcephaly of unknown origin, (a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the average for the person's age and sex.) cerebral palsy, attention deficit hyperactivity disorder, and sensory integration disorders. Ian has a history of failure to thrive and significant feeding issues due to trouble with fine motor skills.  Ian was diagnosed with urinary reflux as an infant and was on antibiotics for first year.  Ian receives occupational therapy, physical therapy, speech language therapy, special educational service, and goes horse back riding.  

Recent Findings
Ian was diagnosed with a subtype of ADHD in which inattentive symptoms are predominant such as; slower processing speed, difficulty with information processing, increased mental errors, and difficulty with efficient verbal retrieval from long term memory.  This subtype is called Sluggish Cognitive Tempo and causes Ian to take longer to process questions and come up with answers.  In addition, skills such as calculating, reading, and abstract reasoning can sometimes provide a greater challenge, as he has difficulty adequately selecting the important information which he needs to process. 


In the summer of 2009 Ian had a brief illness in which he lost much of his muscle strength and control throughout his body.  He was hospitalized for two days for medical testing for the etiology but there were no conclusive findings.  Ian did slowly regain much of his strength but he is not as independently mobile as he was in June 2009.  For instance, he is not able to walk up down up/down the steps without assistance from his parents, he will not walk on the grass or mulch, and his falling has increased.  He was falling frequently in the classroom and hallways even with an adult to assistant him. Data taken for one week demonstrated an average of 10 falls per day.  A wheeler/walker was provided and this was very successful in reducing falls.  Ian also began having low grade fevers in the afternoon and his parent & teacher reported they thought he might be having seizures.

In December 2009, Ian lost most of his muscle strength again, including his ability to walk and talk.  After visits to the hospital, neurologist, geneticist, and several scans, they found elevated levels of prolactin.  Next week, March 2010 a spinal tap and MRI will be completed.  Ian has regained some of his strength but parents report he is not as independent as he was prior to his December illness.  He is now falling with the walker,and his parents need to carry him up the steps.  He needs adult assistance for more tasks; such as toileting, fine motor skills, and even eating has become more labor intensive.  Within the last month, all service providers working with Ian have noticed a decrease in skills.  Currently doctors are looking into the following neurotransmitter diseases as a possible diagnosis to explain Ian's decrease in skills; Succinic Semialdehyde Dehydrogenase Deficiency, Tyrosine Hydroxylase Deficiency,  Guanosine Triphosphate Cyclohydrolase I Deficiency, and Aromatic L-Amino Acid Decarboxylase Deficiency.