After a Multitude of Tests, an Answer From Grandmother's Memory

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After a Multitude of Tests, an Answer From Grandmother's Memory

New York Times

My daughter's second pregnancy was a nightmare. A screening blood test

suggested that her unborn baby might have Down syndrome. Rejecting

amniocentesis, which could provide an exact diagnosis but carried the risk

of miscarriage, my daughter decided to continue the pregnancy regardless of

the outcome. By 28 weeks, with preterm labor and high blood pressure, she

was on strict bed rest.

As a nurse practitioner working in obstetrics, I take care of patients with

difficult pregnancies all the time. The old obstetrical saw, " sick baby,

sick mother, " kept running through my mind. Then, six weeks before the due

date, my daughter's water broke. Hours later, she delivered her second

daughter.

Right away, I could see there was something different about the tiny baby in

the incubator. Unlike most newborns, who spring back automatically into the

fetal position, my granddaughter was limp. The pediatrician examined her

with a concerned frown. My daughter covered her with kisses and named her

Beth.

Beth was adorable, with blue eyes and a big smile. But at 5 months, she

could barely hold her head up. Her thigh muscles, normally firm and chubby

in a growing baby, felt soft and skinny.

At every checkup, the pediatrician poked and prodded, worried that Beth

might have a childhood muscular disorder. But every time he was about to

order more tests, Beth would fool us. At 51Ž2 months, she held her head

erect. At 14 months, she was walking, evidence that her muscular development

was within normal bounds. She was smart and active, although she seemed

disorganized, all knees and elbows. If she doesn't grow out of it, the

doctor said, we'll do more testing.

By the time Beth was 2, her parents had consulted four pediatricians, a

cardiologist and a dermatologist. Beth had blood tests, cystic fibrosis

screening and thorough goings-over. Most frustrating of all, every doctor

agreed that Beth had a " problem, " although none could explain her easily

bruised skin, poor muscle tone or why she quickly became fatigued.

Once when I picked Beth up, noticing how " floppy " she was, a featherweight

sack of bones held together by tissue-paper skin, I recalled a patient I had

taken care of years before. When I had helped her move into position for her

pelvic examination, she would warn me that her knee might dislocate. She

had, she told me, Ehlers-Danlos syndrome. Snippets of information began to

come back to me.

Ehlers-Danlos syndrome is a group of related connective tissue disorders.

Normally connective tissue provides support to the skin, ligaments, organs

and muscles. Patients with the condition, however, have a defect in their

collagen, the protein that gives connective tissue its strength, making

their skin abnormally elastic, their body tissues fragile, their joints

hypermobile.

My daughter said a few doctors had mentioned the condition, but none had

patients with it. And the syndrome, first described in the early 1900's by

Dr. Ehlers and Dr. Danlos, was difficult to diagnose.

Found in all racial and ethnic groups and affecting males and females

equally, the disease can be so mild that it is never discovered or so severe

that it disables. Characteristic signs may reveal themselves only as a child

grows. While there are six distinct subtypes of the syndrome that vary in

severity, the symptoms often overlap.

When Beth was 3, a medical geneticist diagnosed her disease as

Ehlers-Danlos. At first, Beth seemed to have the type called hypermobility,

characterized by velvety skin, hypermobile joints, joint pain and easy

bruising. But by the time Beth was 5, her high forehead, wispy hair,

transparent skin and larger-than-usual eyes suggested the more serious

vascular type, which can result in organ or vascular rupture.

A skin biopsy snipped from Beth's arm ruled this out, but the test could not

say which type of Ehlers-Danlos she did have. At age 6, Beth's symptoms -

elastic skin, widened scars, easy bruising, anal prolapse, joint

hypermobility, lax muscles and little fatty cysts or " spheroids " on her

forearms and shins - indicated the so-called classical type of the syndrome.

Today, Beth is 7, a beautiful girl who plays the piano and likes to race her

sister and brother. Her life expectancy and intellect are normal. But she

experiences joint pain, bruising, muscle weakness, constipation and

intermittent rectal prolapse.

She wears soft leg braces to help prevent knee dislocations that occur

without warning. When she rides her bicycle, she puts on shin guards, elbow

pads and a helmet. If her symptoms progress, she may become all too familiar

with chronic pain.

But Beth is lucky. Her parents persisted in seeking evaluation and

diagnosis, which can be, for Ehlers-Danlos patients, a long and difficult

journey. Only 5 percent of the 1 in 5,000 to 1 in 10,000 people living with

the syndrome have received a proper diagnosis.

An accurate diagnosis is both possible and important, helping families plan

for routine and emergency care and allowing Ehlers-Danlos patients to lead

informed, more comfortable lives.

I plan to dance at Beth's wedding. I hope Beth will be dancing too.