Maggie's medical mystery tour

Maggie's medical history

Maggie has had a complex medical history. We do not know the extent to which her medical challenges are directly related to Angelman Syndrome and which might be very individual. We list them here so others can see and compare.

Birth: required brief intubation at birth due to fear of aspiration of thick particulate meconium and lack of crying. Had a very cat-like cry in early infancy. Rarely cried.

Age 2 weeks to 12 weeks: Colic began and lasted until about age 12 weeks. Would scream for hours with her body totally tensed. Her only crying was this completely inconsolable screaming. After age 12 weeks, her crying disappeared and she didn't cry more than once or twice per month after that.

Hypertonia: first sign was when she flipped over at age 2 weeks because she was so stiff.

Nursing difficulties: milk would pour out of her mouth while she nursed and she regularly choked and gasped while nursing. She had a strong suck reflex but in hindsight, we can see that she couldn't coordinate her swallow. Would nurse for an hour at a time, every other hour. Despite round the clock nursing, dropped down the growth charts such that by age 12 weeks, she was in the 5th percentile for height, weight and head circumferance. At around age 12 weeks, Erin began pumping to prepare to go back to work. She would pump two bottles and THEN nurse Maggie. Suddenly Maggie could nurse without difficulty and began to gain weight.

Failure to thrive until approximately age 12 weeks. Reversed around the 12 week mark when Erin began pumping milk to go back to work. Maggie switched easily between bottles of pumped milk and nursing. Erin had such an excess milk supply due to Maggie's constant nursing that we could select the most high-fat bottles. Maggie grew from the 5th% at age 3 months to the 95% by age 5 months.

Reflux was probably evident from birth. She soaked her clothing with spit-up but we didn't realize this wasn't normal spit-up. Sometimes she effortlessly vomited her entire stomach contents.

Croup and pneumonia: first ER visit with croup that progressed to pneumonia at age 8 months.

Myoclonic jerks and constant arching backwards: By age 12 months, developmental delays were evident. Maggie would throw herself back from any upright sitting posture. The constant arching backwards and arching or jerking backwards in her sleep was identified as myoclonic seizures by age 16 months. First medications: clonazepam, .5 mgs and clonidine, .1 mgs, started at age 16 months, at bedtime, following an episode where Maggie was awake approximately 30 hours straight and could not fall asleep due to myoclonic jerks.

Age 13 months: Prader-Willi syndrome was diagnosed based on positive FISH test.

Age 14 months: Prader-Willi specialists suspected a mis-diagnosis and ordered a methylated analysis.

Age 15 months: Angelman Syndrome confirmed with methylation analysis.

Maggie and the Nueros

Like most people with angleman, Maggie has a seizure disorder, though it is not particularly severe and is largely controlled through medication. We have also had great success with seizure control through the ketogenic diet. Since Maggie receives most of her nutrition through a g-tube, compliance with the ketogenic diet has not been difficult. Maggie also takes clonazapam and Keppra (250 mg 2xday).

Maggie had her first identifiable seizure at about 24 months. The seizure presented as a series of myoclonic seizures accompanied by high levels of distress, hypersenstivity to light and other sensory inputs, and post-ictal lethargy. We have also observed atypical absence and partial complex seizures, two of which have required emergent interventions to end. Still, on the spectrum of intractable seizure profiles among people with angelman, Maggie's seizure disorder is rather moderate.

 

Acute Respirtory Distress Syndrome

Maggie's most serious health event occurred in September 2007. After a routine tonsilotomy, Maggie's breathing became laboured and she had excessive mucous discharge from her mouth and nose. We took her to emergency early that morning. she was exhausted from the laboured breathing and her oxygen saturation was very low. They intubated her and she spent the next 16 days in the ICU on a ventilator. Her x-rays (the image to the right is of an ARDS patient, though not Maggie) and vital signs showed that she had Acute Respiratory Distress Sydrome (ARDS). Maggie had gone into respiratory failure though the cause remains unknown.

The published mortality rate of ARDS in children is 50%. We stared at the numbers on her ventilator and her vital signs, terrified whenever her oxegyn saturation dropped lower than 80%.

Helping Maggie's Lungs Stay Healthy

Maggie is now on a twice daily inhaler.

Content 4

Content 5

 

Content 6