Woman unites experts, parents with interest in rare medical disorder

With her computer in her Upperco home, Wanda Robinson has started an international, Internet support group for families and medical experts on Noonan's syndrome, a rare genetic disorder. She has child with the disorder.

By MIKE BLANKENHEIM
Times Staff Writer

Parents whose children have the rare genetic disorder Noonan's syndrome say they've felt alone and lost. Noonan's typically includes heart disorders and sometimes learning disabilities.

Even though the syndrome was first medically noted in 1963, knowledge, diagnosis and treatment of it remains fragmented.

That's changing.

Medical professionals and parents from all over the world credit Wanda Robinson of Upperco with using a unique combination of '90s Internet technology and old fashioned volunteerism to help advance science and unite Noonan's families.

``It takes a while for these rare syndromes to get in into the medical literature and become generally recognized,'' said Dr. Jacqueline Noonan, the Kentucky cardiologist who discovered Noonan's syndrome. ``It's generally the parents of patients who are the go-getters to spur public awareness. What Wanda is doing is great.''

One of Robinson's children has a mild case of Noonan's syndrome. Fifteen months ago, Robinson used the Internet to start the Noonan syndrome Support Group, a tax-exempt non-profit organization.

``It's not me,'' Robinson said. ``It's the people in the group. I'm just providing the method for them to come together.''

The group was organized with 15 members, now nearly 500 families belong. Since it founding in June of 1996, the group and Robinson has been:

Organizing a November conference on Noonan's outside Baltimore that will be attended by Noonan's families and experts from the United States and Europe.

The meeting and group's accomplishments are of great importance for medical and lay people in this country with an interest in Noonan's, said Karen Eanet. She is a genetic counselor with the Greater Baltimore Medical Center.

``It's a great opportunity for a families to meet with physicians who really know about this condition,'' Eanet said. ``It's a great opportunity for professionals who have a lot of experience looking into Noonan's syndrome to meet a large group of patients.''

Assisting Dr. Peter Bowers, a Yale University fellow in pediatric cardiology.

Bowers said that in the search for genetic causes of Noonan's, Yale will pay to have blood drawn, shipped and tested. Robinson will contact members of the support group to see if they are interested.

``To date, there's been no well organized or efficient way to accomplish our goal,'' Bowers said. ``We really needed someone like Wanda to mobilize forces. Now we have that.''

Started an interactive Internet Web page that includes general information about Noonan's, the group's activities, its members and even an online discussion group.

For Diane and Bob Bleyhl of Santa Rosa, Calif., the page proved a godsend. Their 2-year-old son, Alex, has spent much of his young life battling heart deficiencies and a variety of infections.

``Because of what Wanda put on the Internet, we were able to get Alex diagnosed,'' Diane Bleyhl said. ``We took the information we found on the Internet to our geneticist and said `We think Alex has Noonan's.' He said `I think you're right.' ''

``It's meant we know what to expect,'' Bleyhl said. ``We've been able to talk to other parents. And since we've been listed on the Web page for other people to call, we've helped other parents.''

Robinson, 45, runs a small licensed day-care operation from her home outside Hampstead. To protect the privacy of her children, she requested that the specifics of her family's situation with Noonan's not be published.

``What's most important is that we're helping other people get a handle on this,'' she said. ``I know how that can feel. When we started this, I felt like we were the only family in the world who had a kid with Noonan's.''

Wanda's husband, Dave Robinson, is unabashedly proud of her.

``She's received letters from medical professionals all over the world thanking her,'' he said. ``It's truly amazing what's been done, and it's hardly been a year.''

For more information on Noonan's syndrome, the group can be reached at (888) 686-2224. The group is self-funded and does accept donations.

Related info:
The Noonan Syndrome Support Group, Inc. Web Site