Amy Laughs With The Angels

Nell and Gary Ruggles praised God for their firstborn after years of hoping and praying for a child. She was a small-boned and petite waif of a girl, with blonde fuzz on her head, a slightly reserved attitude and cautious, measured body movements. When Amy was happy, she blossomed, and could make the world smile with her musical laughter, but when she was unhappy, her weak little cry was heartbreaking.

The two of them gave Amy everything a little girl could want, and they showered her with love. They sang, read, played and did everything they could to offer her the best start in life she could have.

When Amy was a little over a year old, Nell became pregnant again, this time with twins. Gary couldn’t have been more pleased. Coming from a large family himself, he pictured his children having the same experiences he cherished growing up with many siblings.

Around the time Sarah and Seth were born, Amy seemed to regress. She seemed less social, and she seemed to need more help than she had just the month before. She cried more, and seldom showed her exuberant side.

Their regular doctor suggested Amy might be jealous of the twins and just temporarily regressing, but Gary and Nell worried. A second opinion with a pediatrician in the city nearby concurred with their own doctor and suggested they give Amy more one-on-one time with each of them.

A few months later, Amy’s deterioration was undeniable. Both doctors they had consulted now agreed there was something different about Amy, but didn’t know what.

The doctors at City Pediatric Specialists were baffled. By now, the twins were catching up with Amy’s development. Finally, a developmental specialist, who had studied under Dr. Andreas Rett, diagnosed Amy with Rett Syndrome just a few minutes into their consultation.

Just as they had been told, Amy became socially uninterested, almost always turned inward. She never smiled anymore. She developed unusual ways of holding her wrists and hands, chewed her fingers, stumbled and shuffled when she walked. She had already lost the ability to control her urine and bowels, and she stopped speaking. Her cry became even more heart shattering than it was in her infancy.

Today Amy is eight and a half. Her almost seven-year-old twin siblings help their parents take care of Amy. They keep the diaper supply stocked in the bathroom, bring toys within reach of Amy where she sits, put her mitts on when her hands get irritated by her gnawing, and take turns feeding her.

Amy seldom cries anymore. She shows little pleasure or displeasure. She shows almost no interest in Sarah and Seth, even when they clown around, trying to make her laugh.

But sometimes, in the middle of the night, Nell and Gary can hear her laughing in her room, a melodic laughter that sounds almost like bells chiming in the distance. As they listen hard, they sometimes even think they hear more than one note at the same time. They say Amy laughs with the angels.

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Osler said “Listen to your patient, he is telling you the diagnosis”. Duvefelt says “Listen to your patient, he is telling you what kind of doctor he needs you to be”.

BOOKS BY HANS DUVEFELT, MD

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