Marfan Syndrome - Families Seek Answers About Marfan Syndrome At Annual Conference

Families Seek Answers About Marfan Syndrome At Annual Conference
Main Category: Conferences
Also Included In: Genetics
Article Date: 02 Jul 2010 - 1:00 PDT


The night after her 11-year-old daughter was fitted with her back brace to correct scoliosis, Peggy Maderer Henderson went into her bedroom, closed the door and burst into tears.

It wasn't because her daughter was upset-she had actually been excited, in the way children can be. But Henderson, 35, knew there would come a time when the brace would not be fun, when the trips to the cardiologist would become old, when the inability to be a "normal" child would grind on her. Henderson had already lived it.

But because of the 26th National Marfan Foundation (NMF) Annual Conference held in Houston July 8-11, 2010, her daughter Breya will have an opportunity her mom didn't have-the ability to connect with other pre-teens who also have Marfan syndrome. Both will travel here from Austin for the conference.

Dianna Milewicz, MD, PhD, President George H.W. Bush Chair of Cardiovascular Medicine and professor and director of the Division of Medical Genetics at The University of Texas Medical School at Houston, part of UTHealth, is chair of the Professional Advisory Board of the National Marfan Foundation. She is spearheading the conference initiative with Joseph Coselli, MD, chief of the Division of Cardiothoracic Surgery and professor of surgery in the Michael E. DeBakey Department of Surgery at Baylor College of Medicine.

The conference, which will be held at the Intercontinental Houston Hotel in the Galleria area, enables people with Marfan syndrome and related connective tissue disorders to meet leading Marfan syndrome researchers and physicians and learn about new medical and genetic research.

Henderson inherited the gene defect that causes Marfan syndrome from her mother, who wasn't diagnosed until Henderson received her diagnosis in the fifth grade after doctors found she has scoliosis.

When she was in the sixth grade, she underwent major back surgery. Despite that, Henderson was active-doctors didn't tell her people with Marfan need to avoid contact sports-and her lungs collapsed when she was a teenager. She is monitored yearly for an enlarged aorta.

"My daughter has started to have complications and I thought it was a good idea for her to go," says Henderson. "It's hard at that age to deal with the issues such as peer pressure and she will get to be around other kids who are going through the same thing. It's a lot to understand and emotionally deal with. As a parent, I struggle with how much to tell her and how to help her. But I think it's time she found out more because it's part of her everyday life now. It's hard to find clothes and shoes...she wears a size 11 shoe and is 5-foot-6."

Margaret Null of Magnolia will also be at the conference, but for a different reason. She wants to learn more about aortic disease, something the foundation has worked hard to educate people about.

Null's middle brother died suddenly last November at the age of 51.

"My brother had just had a physical. He was in good health and didn't have high blood pressure, didn't smoke and didn't have any heart-related issues that he was aware of," says Null, who will be seeing Milewicz as well as other physicians and researchers at the conference. "He was at a deer lease with friends and his son. He put a domino down, took a breath and fell over. He never regained consciousness. The autopsy showed an aneurysm at the aortic root where it goes into the heart. His death took us all by surprise."

Equally surprising was the discovery that her youngest brother, 47, also had a deadly aneurysm. Family members were scanned after her brother's death. Null said her mother's father died suddenly before the age of 50 and they wonder now if it was from a ruptured or dissected aorta.

"I got an echocardiogram and nuclear stress test and I'm fine. I go back in a year for a retest. But I was shocked to hear that when my younger brother was tested, he had the same thing.

The aneurysm measured a little smaller than the point where they usually do surgery but because of what happened to our middle brother, the doctor told him that he couldn't reassure him that it wouldn't burst in six months. So he went ahead and had the surgery."

The middle brother has three children. One daughter, 18, has some Marfan features such as unusual height, Null says.

"I'm going to the conference to find out more about Marfan and related diseases and to see if we are in one of the categories as a family. I'd like to know if there is a genetic link," she says.

Source:
University of Texas Health Science Center at Houston
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Families Seek Answers About Marfan Syndrome At Annual Conference