Raising Alyssa

lyssa Holyoak notices a smudge of chocolate on her thumb. The tousled-haired 3 1/2-year-old grins and pops her thumb into her mouth to suck the sweet icing.

"Just like any kid would," her mother, Peggy, says, smiling proudly as she recalls the moment.

Just like any kid. For Alyssa to be like others her age is her family's dream.

Alyssa was born 10 weeks premature and with Noonan Syndrome. The genetic disorder affects people in 200 different ways and produces symptoms that can be mild to severe. It can deform the heart and lungs, as well as stunt mental and physical growth.

Because the symptoms can be so varied and mild, Noonan Syndrome is tricky to diagnose and can be missed. The disorder occurs in 1 in 1,000 to 2,500 births.

A specialist recently diagnosed Alyssa as mentally retarded. Yet, she comprehends what's going on around her and relates to people. She loves to hear stories and, when asked, she points to objects she recognizes in books. Sometimes she'll name the object, proclaiming, "apple, cat."

"She loves a good joke," Peggy says with a laugh. Good thing. Alyssa's dad, Val, is known for his corny jokes.

Alyssa's droopy eyelids, curly ears, wide turned-up nose, high-arched palate and barrel chest mark her as a Noonan Syndrome child. Because her eyes don't coordinate with each other, she wears an eye patch over one eye, and then the other, for two hours a day, so the brain won't choose one eye over the other.

She just started walking this year. She stomps on stiff legs. Plastic braces keep her ankles straight so she doesn't walk on the insides of her feet. Until a few weeks ago, she used a tot-sized walker for balance; now, she'll have nothing to do with it. "That's for babies" is her attitude, her mother says. "She doesn't even hold our hands. We walk into Fred Meyer now, and she just lets go. We have to watch her now because she'll take off."

Alyssa is learning to crawl, an activity that will help her brain coordinate different parts of her body. In September, she could manage two "steps" before she fell on her nose. The other day, she crawled all the way down the hallway of the family's Astoria home. "She's not fast, and she might pause, but she does it," Peggy says.

Alyssa is fed through a tube in her tummy. Like many Noonan children, she was born with a poor sucking reflex. Her medical treatment, which included having tubes down her throat after she was born, caused her to gag easily and she still doesn't like someone else to put anything in or near her mouth.

Her parents worry that Alyssa won't get enough nourishment to sustain her as she gets older, unless she eats.

Alyssa also lags behind in her ability to talk. "I love you," is her longest sentence. Her family teaches her some sign language to broaden her communication skills. Alyssa blends gestures, sign language and spoken words to make her desires known. She puts her palms together and opens them to simulate the opening of a book. She points to the back door and says "side" to let her mother know she wants to go outside.

The Holyoaks focus on loving Alyssa for who she is, not for what she may, or may not accomplish. There is a buoyancy about them that stems from hope and faith.

"We haven't looked at it is a bad or awful thing," Peggy says. "She's just brought us so much happiness."

Shortly before she turned 3 last May, Alyssa Holyoak needed lots of concentration and the aid of a tot-sized walker to walk. She's now walking on her own. Alyssa was born with Noonan Syndrome, a genetic condition causing heart, lung and other physical deformities.

Finding out more about Noonan Syndrome

When 9-year-old Darcie Robinson was diagnosed with Noonan Syndrome last year, her mother, Wanda, found no one to turn to for emotional support and information about the disorder.

So, the Maryland mother started The Noonan Syndrome Support Group Inc., a nonprofit group offering support, networking and information to people affected by the disorder, their families and to medical professions.

"People with Noonan Syndrome want the same things out of life as everyone else, to live life to the fullest and reach their true potential" Robinson said.

The group also puts on an annual conference. Peggy Holyoak hopes she and Alyssa can attend next year's.

Noonan Syndrome is a genetic condition that causes heart defects, alters physical features and can stunt physical and mental growth.

It is believe up to 1 in 1,000 children are born with this condition. The wide variety of symptoms, which can be mild to severe, make it difficult to diagnose, and researchers believe many cases are missed.

The condition was first noted in 1963 by a pediatric cardiologist for whom it is named. However, it was apparently also described in 1883 by a German doctor.

Two-thirds of the people diagnosed with Noonan Syndrome have congenital heart defects. Other symptoms include physical deformities including wide-spaced eyes with droopy lids, curly ears, short necks with excess skin, highly arched palates, barrel chest and short stature.

Some hearing loss is common. Most children with Noonan have problems eating and talking. But their intelligence often ranges from mildly mentally retarded to superior.

There is no cure for Noonan Syndrome but a number of complications can be treated by surgery, medicine, special education or speech therapy.

Wanda Robinson,
The Noonan Syndrome Support Group, Inc.,
P.O. Box 145
Upperco, MD 21155, USA
1-888-686-2224 within the USA
or 410-374-5245
info@noonansyndrome.org

Thank you for your kindness and generous support!
* The Noonan Syndrome Support Group, Inc. is a 501 (c)(3) tax exempt, non-profit organization.

Contributions are tax-deductible to the extent allowed by law.

Raising Alyssa

Faith drives family as child with Noonan Syndrome grows

Finding out more about Noonan Syndrome