Our first baby arrived in 1997 after an uneventful pregnancy with the exception of some mild hypertension and edema in the last 2 weeks. At 41-1/2 weeks, her mom went into the hospital in early labor, and the fetal monitors immediatedly showed recurrent late decelerations. It was decided that a C-section was indicated, and 3-1/2 hours later our little girl was born! We found out later that at delivery she was in respiratory distress with thick meconium, had tracheal suctioning and oxygen administration. Shortly after delivery they told us that she might have Downs syndrome due to her eye shape, sparse light-color hair, tongue protrusion, hypotonia, a questionable EKG, and elevated thyroid levels (TSH, T4) that would remain elevated for the next several months. We took her home three days later, and waited for the next week or two for the genetic tests to come back, which turned out to be normal, to our relief! In the meantime, she had difficulty feeding with a poor feeding effort, hypothermia, and circumoral and peripheral cyanosis. We went to the cardiologist and found she had an atrial septal defect with aneurysmal tissue, which was expected to and did heal on its own.

All of her milestones were delayed, and at 18 months she began receiving services through Early Childhood Education, including speech therapy, PT, and OT. She walked at about 20 months, and her first words were at age 4-5 years. She used sign language and a picture exchange communication system (PECS) to communicate. Her language disorder has been described as verbal apraxia and aphasia, with a higher receptive than expressive ability, difficulty with using her articulators due to motor planning and low tone, and difficulty coordinating breath and voice. As her expressive abilities progressed, she became more dysfluent with stuttering, tapping, and blocking features. She has fine motor delays with low hand strength, and has had difficulty with writing, use of fasteners and latches, and opening containers. She had issues with safety awareness of her surroundings, walking into objects, tripping, and not breaking her falls, which have improved. She has had difficulty with gross motor activities such as coordination and motor planning for bicycling, swimming, and ball skills. She is in a special education classroom and mainstreams for music, art, social time, and gym, in addition to her adaptive PhysEd.

In the early years, we did not know what the cause was for her delays as her genetic testing was negative. An MRI done at age 5 showed what was thought to be 3 small areas of periventricular heterotopia, a neuronal migration defect, though later thought by experts not to be typical for heterotopia or neuronal defect in appearance, number, or location with some extension into the caudate, but no alternative diagnosis could be given. Her psychological testing puts her at a mild to moderate level of cognitive dysfunction. At age 8, she had 2 partial complex seizures and was put on Trileptal. She has been seizure free since, but EEGs continue to show epileptiform activity as of 2008, so she remains on medication. She does have inconsistencies and fluctuations in her performance, recall, and speech fluency.

In her personality, she was a very easy-going baby who rarely cried. She was a very happy and smiley, engaging toddler, very friendly and affectionate with others, though a little shy. As she has gotten into her preteens, she has become more independent, sassy, and stubborn, having some remaining shyness and anxiety in new situations, though overall still good natured, humorous, and fun-loving. It has been our greatest challenge, joy and privilege to be her parents!

Marisa’s Story was submitted by her mother.

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