Couple honored for work with Marfan foundation

Barbara and Steve Hawthorne, of Freehold, were honored by the National Marfan Foundation (NMF) with a Silver Service award for their contributions to the Marfan community. The Silver Service awards are part of the NMF's 25th anniversary celebration. These recognitions for 18 NMF members were based on nomination by their peers for outstanding volunteer service.

Steve is the president of the NMF's PennJersey Chapter. He has spearheaded the chapter's most successful fundraising event, Masquerade Madness, since its inception three years ago, raising more than $60,000.

Barbara, who is treasurer of the local chapter, works with Steve on Masquerade Madness. Additionally, she meets with local school nurses and physical education teachers to educate them about Marfan syndrome and related disorders. Her goals are to inform them how children with the disorder can be recognized in school and how affected children can participate in school activities.

According to a press release, the Hawthornes' commitment to supporting families with Marfan syndrome and related disorders was evident earlier this year as the PennJersey Chapter hosted the NMF's 22nd annual conference, which was held in Philadelphia in July. In addition to organizing the local volunteers, they played a key role in planning and organizing the children's and teenagers' programs at the conference.

Steve, 40, was diagnosed with Marfan syndrome in 1986. His 7-year-old son, also named Stephen, was similarly diagnosed. Last year, when the Marfan-like disorder Loeys-Dietz syndrome was defined, Steve and his son were rediagnosed with this Marfan-like condition.

"Barbara and Steve Hawthorne are exemplary in their commitment to the Marfan community. They are determined to do their part to improve the lives of families facing the same challenges as they are, despite having to deal with their own medical issues," said Karen Wolk, director of support services and volunteer development, NMF.

Marfan syndrome is a potentially fatal genetic disorder of connective tissue. Marfan syndrome and related connective tissue disorders affect approximately 200,000 Americans. Because connective tissue makes up the entire body, the disorder manifests itself in many body systems, including the skeletal system, eyes, lungs, blood vessels and heart.

According to the press release, affected people are frequently (but not always) taller than unaffected family members, with disproportionately long arms and legs, indented or protruding chestbone, and scoliosis. They may be nearsighted, have dislocated lenses and early cataracts. The life-threatening aspect of the disorder involves the aorta, which is prone to expand in affected people.

Without proper monitoring and medications to reduce the stress on the aorta, affected people are at high risk for aortic dissection or rupture, which could result in sudden death. Only through increased awareness, earlier diagnosis and proper treatment can people with the disorder expect to live a normal life span, according to the press release.

Loeys-Dietz syndrome (LDS) is a Marfan-related disorder that was first identified in 2005. This aortic aneurysm syndrome has some overlapping features with Marfan syndrome, but has clearly distinct features, including widely spaced eyes; cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat); and aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.

LDS management is similar to Marfan syndrome in many ways. However, because of the risk of aneurysms throughout the body, it is necessary to image the arterial system throughout the body (Marfan syndrome just requires aortic imaging). In addition, LDS has been found to lead to aortic tears at a smaller size, so surgery is often indicated earlier than in Marfan syndrome.

The NMF was founded in 1981 to provide accurate and timely information about Marfan syndrome and related disorders to patients, family members and physicians; to serve as a resource for medical information and patient support; and to support and foster research.

For more information about Marfan syndrome, Loeys-Dietz syndrome and the NMF, call the NMF at 800-8-MARFAN or visit the NMF online at www.marfan.org.