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September benefit targets rare disorder in infants.

Byline: Randi Bjornstad The Register-Guard

Jennifer Knapp was lucky. When her now 15-year-old daughter was born, Knapp had a physician who previously had seen a case of congenital adrenal hyperplasia.

If he hadn't, the tiny girl might have died.

"From the beginning, her breathing reflex wasn't right, she vomited and she was too weak and lethargic to nurse," Knapp said. "But when this doctor saw her, he realized what was happening and knew exactly what was wrong."

The genetic condition, usually called simply CAH, occurs in one of about 15,000 births, the result of an inability of the baby's body to produce an enzyme necessary for the adrenal glands to make cortisol, a hormone that regulates blood sugar and blood pressure and also controls the body's reaction to stress. Lack of the enzyme also prevents synthesis of another hormone called aldosterone. That leads to low blood pressure and an imbalance of low sodium and high postassium in the blood.

In the most severe form of the disorder, called salt-wasting CAH, or SWCAH, the body can't maintain a proper fluid balance, setting up a lifelong possibility of acute adrenal crisis characterized by dehydration, vomiting, diarrhea, low blood sugar, shock and even death.

The condition also can involve excessive production of male sex hormones that can force early puberty in boys, abnormal genital development - referred to as "ambiguous genitalia" - in girls, and severe acne, according to information from the Mayo Clinic. Some children grow quickly in their early years but end up being shorter than average as adults. CAH affects males and females in equal numbers.

"Many people have never heard about CAH, but in the past few years, there's been more testing at birth to detect it," Knapp said. To help get the word out, she's organizing a public CARES Family Fun Dash and Splash event over Labor Day weekend to increase public awareness of the disorder and raise some money for the national nonprofit CARES Foundation that supports CAH research, education and family assistance programs.

Detection of the condition at birth is critical, although with some baby girls, it quickly becomes obvious because of their genital malformation.

"When those girls are born, they may look more like boys than girls, because the clitoris is enlarged, almost like a penis, and the labia is sometimes fused, so it looks almost like a scrotum with undescended testicles," Knapp said.

In many cases, baby girls with ambiguous genitalia undergo surgery as infants to reposition the clitoris and do necessary vaginal reconstruction. For some, further surgery may be required later, when girls have achieved most of their adult growth.

Until about 1950, when medical researcher Lawson Wilkins at Johns Hopkins Medical School figured out the relationship between underproduction of cortisol and overproduction of male sex hormones, the disorder wasn't recognized at all. "Until that time, many babies just wasted away and died from it," Knapp said.

Another Eugene mother, Sandy Alperin, said she and her husband, Dan Klute, almost lost the baby boy they adopted right after his birth 20 years ago to SWCAH.

"He was 11 days old, and he wasn't eating well. He just seemed ill, and I just had a sense something was wrong," Alperin said. "Then he got really sick, really dehydrated, so we took him to the hospital, but they didn't know what was wrong."

The baby went into acute arrhythmia and had to be given a massive infusion of insulin to stabilize.

"From then on, all our doctors were inundating us with medical books so we could learn about CAH," she said.

One of the greatest dangers still to children with CAH or SWCAH is sudden illness or accident, because any disturbance to the body from illness or injury can trigger an adrenal collapse.

In high school Alperin's son fell at school and broke his leg.

"By the time we got to the emergency room, his limbs were white," Alperin said. "He was having an acute episode. But we had to insist that they deal with that first and let the leg wait.a... You really have to be a strong advocate for your child with CAH."

Yet early on, she and her husband decided they would let their son, now a junior in college in Southern California, live as normal a life as possible, although he has had a number of trips to the hospital, Alperin said.

Treatment of CAH and SWCAH requires lifelong use of cortisol replacement medications, with frequent tweaking of dosages by doctors and extra doses always at hand in case of sudden adrenal collapse.

Many children with CAH and SWCAH receive care from pediatric endocrinologists rather than regular pediatricians because of the complexity of their treatment. Multiple drugs may be necessary, and medications taken for a long time, especially steroids, can affect bone growth and mass.

"Now that my daughter is older, she can carry medication with her that she would need to have injected in case of adrenal collapse," Knapp said. "She's mature enough now that she thinks she could even do it herself."

Part of Knapp's hope in organizing the Dash and Splash event is simply to meet other parents and children who live with CAH or SWCAH.

"I have felt really isolated ever since my daughter was born," she said. "Even though she's 15, it's just recently that I have actually met another mom of a child with CAH. I can't even express what that meant."

The two mothers sat and talked for three hours, Knapp said.

"I don't want other families to have to wait 15 years to find someone who understands their struggles and fears."

FUNDRAISER

What: A benefit to bring families together who have members with congenital adrenal hyperplasia and to raise funds for CARES Foundation. Activities include games for children 11 and younger; an all-age 1-mile family relay; "Kids Aquathon" with choices of lap swims of 25 yards or 50 yards and races of a quarter-mile and half-mile. Bring a picnic lunch and snacks or purchase at the park.

When: 9 a.m. to 1 p.m. Sept. 3

Where: Splash! at Lively Park, 6100 Thurston Road, Springfield Entry fees: From $5 to $30 per child, depending on activities Register: www.caresfoundation.org/events/Family_Fun/Registration.html Information: 541-302-2786 or cah932011@comcast.net
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Title Annotation:Health and Fitness; Congenital adrenal hyperplasia can be managed, but early detection is the key to living a healthy life
Publication:The Register-Guard (Eugene, OR)
Date:Aug 8, 2011
Words:1049
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